Cluster composition

Functions

CategoryNameIntersectionWithQueryPValueGenesInTermGenesInQueryGenesInTermInQueryID
GeneOntologyMolecularFunction4-hydroxybutyrate receptor activity

SLC52A1 SLC52A2

2.74e-0521052GO:0062124
GeneOntologyMolecularFunctionchannel activity

TSPOAP1 TRPC4 SLC26A9 OCA2 ANO8 KCNJ8 KCNJ9 KCNJ11 LRRC8B SLC12A7 UNC80

1.00e-0452510511GO:0015267
GeneOntologyMolecularFunctionpassive transmembrane transporter activity

TSPOAP1 TRPC4 SLC26A9 OCA2 ANO8 KCNJ8 KCNJ9 KCNJ11 LRRC8B SLC12A7 UNC80

1.02e-0452610511GO:0022803
GeneOntologyMolecularFunctionmonoatomic anion transmembrane transporter activity

SLC26A9 OCA2 ANO8 SLC18A1 LRRC8B SLC12A7

1.47e-041511056GO:0008509
GeneOntologyMolecularFunctionmonoatomic ion channel activity

TSPOAP1 TRPC4 SLC26A9 OCA2 ANO8 KCNJ8 KCNJ9 KCNJ11 LRRC8B UNC80

1.54e-0445910510GO:0005216
GeneOntologyMolecularFunctionnuclear retinoic acid receptor binding

PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14

2.00e-04551054GO:0042974
GeneOntologyMolecularFunctiontransporter activity

ABCA4 SLC52A1 XKR9 TSPOAP1 ABCA13 TRPC4 SLC26A9 OCA2 ANO8 SLC18A1 KCNJ8 KCNJ9 KCNJ11 LRRC8B SLC52A2 SLC12A7 UNC80

3.87e-04128910517GO:0005215
GeneOntologyMolecularFunctionriboflavin transmembrane transporter activity

SLC52A1 SLC52A2

4.05e-0461052GO:0032217
GeneOntologyMolecularFunctionATP-activated inward rectifier potassium channel activity

KCNJ8 KCNJ11

4.05e-0461052GO:0015272
GeneOntologyMolecularFunctioninward rectifier potassium channel activity

KCNJ8 KCNJ9 KCNJ11

4.21e-04281053GO:0005242
GeneOntologyMolecularFunctiontransmembrane transporter activity

ABCA4 SLC52A1 TSPOAP1 ABCA13 TRPC4 SLC26A9 OCA2 ANO8 SLC18A1 KCNJ8 KCNJ9 KCNJ11 LRRC8B SLC52A2 SLC12A7 UNC80

4.32e-04118010516GO:0022857
GeneOntologyMolecularFunctionchloride transmembrane transporter activity

SLC26A9 OCA2 ANO8 SLC18A1 SLC12A7

5.20e-041251055GO:0015108
GeneOntologyMolecularFunctionvitamin transmembrane transporter activity

ABCA4 SLC52A1 SLC52A2

8.89e-04361053GO:0090482
GeneOntologyMolecularFunctionubiquitin-like ligase-substrate adaptor activity

PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14

9.22e-04821054GO:1990756
GeneOntologyMolecularFunctionmonoatomic ion transmembrane transporter activity

TSPOAP1 TRPC4 SLC26A9 OCA2 ANO8 SLC18A1 KCNJ8 KCNJ9 KCNJ11 LRRC8B SLC12A7 UNC80

9.37e-0479310512GO:0015075
GeneOntologyMolecularFunctionG-rich strand telomeric DNA binding

CTC1 POT1

1.46e-03111052GO:0098505
GeneOntologyMolecularFunctionenzyme-substrate adaptor activity

PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14

1.59e-03951054GO:0140767
GeneOntologyMolecularFunctionsingle-stranded telomeric DNA binding

CTC1 POT1

2.06e-03131052GO:0043047
GeneOntologyMolecularFunctionphosphatidylinositol-3-phosphate binding

HIP1 ZFYVE26 VPS13B

2.06e-03481053GO:0032266
GeneOntologyMolecularFunctioninorganic anion transmembrane transporter activity

SLC26A9 OCA2 ANO8 SLC18A1 SLC12A7

2.10e-031711055GO:0015103
GeneOntologyMolecularFunctionmonoatomic anion channel activity

SLC26A9 OCA2 ANO8 LRRC8B

2.14e-031031054GO:0005253
GeneOntologyMolecularFunctionintramembrane lipid transporter activity

ABCA4 XKR9 ANO8

2.45e-03511053GO:0140303
GeneOntologyMolecularFunctionATPase-coupled transmembrane transporter activity

ABCA4 ABCA13 KCNJ8 KCNJ11

2.63e-031091054GO:0042626
GeneOntologyMolecularFunctionsequence-specific single stranded DNA binding

CTC1 POT1

2.75e-03151052GO:0098847
GeneOntologyMolecularFunctionnuclear receptor binding

PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14 NR0B1

3.10e-031871055GO:0016922
GeneOntologyMolecularFunctionvoltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential

KCNJ8 KCNJ11

3.54e-03171052GO:0099508
GeneOntologyCellularComponentcullin-RING ubiquitin ligase complex

DCAF15 PRAMEF1 PRAMEF2 PRAMEF13 KLHL20 FBXL6 PRAMEF14 KLHL12 CRBN

1.45e-062121079GO:0031461
GeneOntologyCellularComponentubiquitin ligase complex

DCAF15 PRAMEF1 PRAMEF2 PRAMEF13 KLHL20 FBXL6 PRAMEF14 KLHL12 CRBN

8.27e-053521079GO:0000151
GeneOntologyCellularComponentCul2-RING ubiquitin ligase complex

PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14

9.77e-05471074GO:0031462
GeneOntologyCellularComponenttransferase complex

DCAF15 PRAMEF1 PRAMEF2 PRAMEF13 VIRMA KLHL20 FBXL6 CCNE1 RPAP1 UBE2I CCNB3 PRAMEF14 KLHL12 CRBN RABGGTA

1.14e-0496310715GO:1990234
GeneOntologyCellularComponentinward rectifying potassium channel

KCNJ8 KCNJ11

1.55e-0441072GO:0008282
GeneOntologyCellularComponentmicrotubule organizing center

RTTN CCNE1 FANCE CEP68 FRY EYS USO1 CCNB3 NR0B1 NINL ZFYVE26 KLHL12 HERC2

8.34e-0491910713GO:0005815
MousePhenoincreased male germ cell apoptosis

HIP1 POT1 PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14 PRR19 SHOC1 GPAT2 VPS13B

4.00e-071899110MP:0014052
MousePhenoabnormal male germ cell apoptosis

HIP1 POT1 PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14 PRR19 SHOC1 GPAT2 VPS13B

3.02e-062369110MP:0008280
MousePhenoabnormal male germ cell physiology

HIP1 POT1 PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14 PRR19 SHOC1 GPAT2 VPS13B

4.07e-062449110MP:0020362
MousePhenoabnormal germ cell physiology

HIP1 POT1 PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14 PRR19 SHOC1 GPAT2 VPS13B

9.00e-062679110MP:0020363
MousePhenodecreased male germ cell number

HIP1 POT1 OCA2 PRAMEF1 PRAMEF2 PRAMEF13 FANCE ENO4 PRAMEF14 PRR19 NR0B1 SHOC1 HERC2 GPAT2 VPS13B

1.49e-056409115MP:0004901
MousePhenodecreased testis weight

HIP1 PRAMEF1 PRAMEF2 PRAMEF13 FANCE ENO4 PRAMEF14 PRR19 NR0B1 SHOC1 GPAT2

2.74e-053709111MP:0004852
MousePhenoabnormal germ cell morphology

HIP1 POT1 OCA2 PRAMEF1 PRAMEF2 PRAMEF13 FANCE ENO4 LPIN1 CCNB3 PRAMEF14 PRR19 NR0B1 VPS13A SHOC1 HERC2 GPAT2 VPS13B

3.20e-059469118MP:0002208
MousePhenoabnormal male germ cell morphology

HIP1 POT1 OCA2 PRAMEF1 PRAMEF2 PRAMEF13 FANCE ENO4 LPIN1 PRAMEF14 PRR19 NR0B1 VPS13A SHOC1 HERC2 GPAT2 VPS13B

3.36e-058599117MP:0006362
MousePhenodecreased germ cell number

HIP1 POT1 OCA2 PRAMEF1 PRAMEF2 PRAMEF13 FANCE ENO4 PRAMEF14 PRR19 NR0B1 SHOC1 HERC2 GPAT2 VPS13B

3.41e-056879115MP:0002209
MousePhenoabnormal foam cell morphology

HIP1 POT1 OCA2 PRAMEF1 PRAMEF2 PRAMEF13 FANCE ENO4 LPIN1 CCNB3 PRAMEF14 PRR19 NR0B1 VPS13A SHOC1 HERC2 GPAT2 VPS13B

3.58e-059549118MP:0009840
MousePhenoincreased kidney weight

DOCK11 OCA2 PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14 ELMOD1

4.37e-05145917MP:0003917
MousePhenoabnormal testis weight

HIP1 PRAMEF1 PRAMEF2 PRAMEF13 FANCE ENO4 PRAMEF14 PRR19 NR0B1 SHOC1 GPAT2

4.53e-053919111MP:0004850
MousePhenoabnormal gametogenesis

HIP1 POT1 OCA2 PRAMEF1 PRAMEF2 PRAMEF13 FANCE ENO4 LPIN1 CCNB3 PRAMEF14 PRR19 NR0B1 VPS13A SHOC1 HERC2 GPAT2 VAV1 VPS13B

4.81e-0510709119MP:0001929
MousePhenoanisopoikilocytosis

SPTA1 CCNE1 VPS13A

1.70e-0417913MP:0002641
MousePhenoabnormal spermatogenesis

HIP1 POT1 OCA2 PRAMEF1 PRAMEF2 PRAMEF13 ENO4 LPIN1 PRAMEF14 PRR19 NR0B1 VPS13A SHOC1 HERC2 GPAT2 VPS13B

2.34e-049109116MP:0001156
MousePhenoabnormal spermatogonia proliferation

PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14

2.42e-0447914MP:0002685
MousePhenosmall testis

HIP1 KLHL1 POT1 OCA2 PRAMEF1 PRAMEF2 PRAMEF13 FANCE ENO4 PRAMEF14 PRR19 NR0B1 SHOC1 GPAT2 VPS13B

2.56e-048239115MP:0001147
MousePhenoabnormal sex determination

HIP1 KLHL1 POT1 OCA2 PRAMEF1 PRAMEF2 PRAMEF13 FANCE ENO4 LPIN1 PRAMEF14 PRR19 NR0B1 SHOC1 GPAT2 VPS13B

3.58e-049459116MP:0002210
MousePhenoabnormal kidney weight

DOCK11 OCA2 PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14 ELMOD1

4.11e-04208917MP:0002707
Domain-

PIDD1 PRAMEF1 PRAMEF2 PRAMEF13 FBXL6 LRR1 RNH1 LRRC1 LRRC8B RABGGTA

9.43e-06321101103.80.10.10
DomainL_dom-like

PIDD1 PRAMEF1 PRAMEF2 PRAMEF13 FBXL6 LRR1 RNH1 LRRC1 LRRC8B RABGGTA

1.14e-0532810110IPR032675
DomainK_chnl_inward-rec_Kir_cyto

KCNJ8 KCNJ9 KCNJ11

8.17e-05161013IPR013518
DomainIRK

KCNJ8 KCNJ9 KCNJ11

8.17e-05161013PF01007
Domain-

KCNJ8 KCNJ9 KCNJ11

8.17e-051610132.60.40.1400
DomainK_chnl_inward-rec_Kir

KCNJ8 KCNJ9 KCNJ11

8.17e-05161013IPR016449
DomainRiboflavin_transptr

SLC52A1 SLC52A2

8.66e-0531012IPR009357
DomainDUF1011

SLC52A1 SLC52A2

8.66e-0531012PF06237
DomainPRAME_family

PRAMEF1 PRAMEF2 PRAMEF13

1.40e-04191013IPR026271
DomainVPS13_C

VPS13A VPS13B

1.73e-0441012PF16909
DomainSHR-BD

VPS13A VPS13B

1.73e-0441012IPR009543
DomainVPS13_C

VPS13A VPS13B

1.73e-0441012IPR031645
DomainSHR-BD

VPS13A VPS13B

1.73e-0441012PF06650
DomainLRR_1

PIDD1 FBXL6 LRR1 RNH1 LRRC1 LRRC8B RABGGTA

1.87e-042191017PF00560
DomainATG_C

VPS13A VPS13B

2.86e-0451012PF09333
DomainAutophagy-rel_C

VPS13A VPS13B

2.86e-0451012IPR015412
Domain-

KLHL1 KLHL20 KLHL12

4.09e-042710132.130.10.80
DomainLeu-rich_rpt

PIDD1 FBXL6 LRR1 RNH1 LRRC1 LRRC8B RABGGTA

6.75e-042711017IPR001611
DomainVPS13_N

VPS13A VPS13B

7.94e-0481012IPR026854
DomainChorein_N

VPS13A VPS13B

7.94e-0481012PF12624
DomainGal_Oxidase_b-propeller

KLHL1 KLHL20 KLHL12

8.13e-04341013IPR015916
DomainSM22_calponin

VAV1 CNN3

1.54e-03111012IPR003096
DomainABC_A

ABCA4 ABCA13

1.84e-03121012IPR026082
DomainARM-type_fold

HIP1 DOCK11 RTTN VIRMA FOCAD AP2A1 USO1

2.44e-033391017IPR016024
DomainLRR_6

FBXL6 LRR1 RNH1

3.28e-03551013PF13516
DomainCyclin_C

CCNE1 CCNB3

3.73e-03171012PF02984
DomainCyclin_C-dom

CCNE1 CCNB3

3.73e-03171012IPR004367
DomainCyclin_C

CCNE1 CCNB3

3.73e-03171012SM01332
DomainKelch

KLHL1 KLHL20 KLHL12

3.82e-03581013SM00612
DomainGal_Oxase/kelch_b-propeller

KLHL1 KLHL20 KLHL12

4.01e-03591013IPR011043
DomainBACK

KLHL1 KLHL20 KLHL12

4.20e-03601013SM00875
DomainBACK

KLHL1 KLHL20 KLHL12

4.40e-03611013PF07707
DomainBACK

KLHL1 KLHL20 KLHL12

4.40e-03611013IPR011705
DomainLeu-rich_rpt_Cys-con_subtyp

FBXL6 RNH1

4.66e-03191012IPR006553
DomainLRR_CC

FBXL6 RNH1

4.66e-03191012SM00367
DomainLRR

PIDD1 LRR1 LRRC1 LRRC8B RABGGTA

4.72e-032011015PS51450
DomainCH

GAS2L3 VAV1 CNN3

5.26e-03651013SM00033
Pubmed

E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins.

DOCK11 MUC19 PIDD1 SLC26A9 GFPT1 NUP205 FOCAD MST1 PARP4 FRY RPAP1 KCNJ9 VPS13A OR4B1

7.14e-087361081429676528
Pubmed

The promoter of the oocyte-specific gene, Oog1, functions in both male and female meiotic germ cells in transgenic mice.

PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14

2.60e-0718108423894331
Pubmed

Oogenesin is a novel mouse protein expressed in oocytes and early cleavage-stage embryos.

PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14

2.60e-0718108412890732
Pubmed

Oocyte-specific gene Oog1 suppresses the expression of spermatogenesis-specific genes in oocytes.

PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14

2.60e-0718108429731491
Pubmed

Identification of a new expanding family of genes characterized by atypical LRR domains. Localization of a cluster preferentially expressed in oocyte.

PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14

2.60e-0718108414675769
Pubmed

A dual-activity topoisomerase complex regulates mRNA translation and turnover.

HIP1 CTC1 INPP5E RTTN GADD45A ANO8 FOCAD CCNE1 LLGL2 RPAP1 AP2A1 KCNJ11 NINL ZFYVE26 HERC2 SLC52A2

3.18e-0711051081635748872
Pubmed

Pramel7 mediates ground-state pluripotency through proteasomal-epigenetic combined pathways.

PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14

3.29e-0719108428604677
Pubmed

Preferentially Expressed Antigen in Melanoma (PRAME) and the PRAME Family of Leucine-Rich Repeat Proteins.

PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14

4.10e-0720108426694250
Pubmed

Oog1, an oocyte-specific protein, interacts with Ras and Ras-signaling proteins during early embryogenesis.

PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14

4.10e-0720108416580637
Pubmed

Pramel7 mediates LIF/STAT3-dependent self-renewal in embryonic stem cells.

PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14

4.10e-0720108421425410
Pubmed

Sertoli cell-only phenotype and scRNA-seq define PRAMEF12 as a factor essential for spermatogenesis in mice.

PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14

6.16e-0722108431729367
Pubmed

Rare independent mutations in renal salt handling genes contribute to blood pressure variation.

KCNJ8 KCNJ9 KCNJ11 SLC12A7

6.16e-0722108418391953
Pubmed

Oogenesis specific genes (Nobox, Oct4, Bmp15, Gdf9, Oogenesin1 and Oogenesin2) are differentially expressed during natural and gonadotropin-induced mouse follicular development.

PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14

7.44e-0723108419480014
Pubmed

MAGE-B4, a binding partner of PRAMEF12, is dispensable for spermatogenesis and male fertility in mice.

PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14

1.06e-0625108437451217
Pubmed

Incomplete reactivation of Oct4-related genes in mouse embryos cloned from somatic nuclei.

PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14

1.06e-0625108412620990
Pubmed

Expression profiling in transgenic FVB/N embryonic stem cells overexpressing STAT3.

PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14

1.25e-0626108418500982
Pubmed

Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.

TSPOAP1 CTC1 ABCA13 SMCHD1 DUOX2 CPZ UBE2I VPS13A CD44 HERC2 UNC80

1.26e-065521081110737800
Pubmed

Differences in gene expression between mouse and human for dynamically regulated genes in early embryo.

PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14

1.70e-0628108425089626
Pubmed

Thirteen Ovary-Enriched Genes Are Individually Not Essential for Female Fertility in Mice.

PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14

2.26e-0630108438786026
Pubmed

LSM14B is essential for oocyte meiotic maturation by regulating maternal mRNA storage and clearance.

PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14

2.96e-0632108437889087
Pubmed

Retinoic acid receptors are required for skeletal growth, matrix homeostasis and growth plate function in postnatal mouse.

PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14

4.27e-0635108419389355
Pubmed

A ubiquitin-based effector-to-inhibitor switch coordinates early brain, craniofacial, and skin development.

KLHL1 MUC19 KLHL20 KLHL12 DNAH5

7.94e-0687108537495603
Pubmed

Linkage and association analysis of spectrophotometrically quantified hair color in Australian adolescents: the effect of OCA2 and HERC2.

OCA2 HERC2

9.55e-062108218528436
Pubmed

Disruption of Kir6.2-containing ATP-sensitive potassium channels impairs maintenance of hypoxic gasping in mice.

KCNJ8 KCNJ11

9.55e-062108217445233
Pubmed

Effects on sperm morphology by alleles at the pink-eyed dilution locus in mice.

OCA2 HERC2

9.55e-0621082863229
Pubmed

Associations of OCA2-HERC2 SNPs and haplotypes with human pigmentation characteristics in the Brazilian population.

OCA2 HERC2

9.55e-062108228081795
Pubmed

ATP-sensitive K+ channels in pig urethral smooth muscle cells are heteromultimers of Kir6.1 and Kir6.2.

KCNJ8 KCNJ11

9.55e-062108218945825
Pubmed

Expression of ATP-sensitive potassium channels in human pregnant myometrium.

KCNJ8 KCNJ11

9.55e-062108221418633
Pubmed

Consequences of cardiac myocyte-specific ablation of KATP channels in transgenic mice expressing dominant negative Kir6 subunits.

KCNJ8 KCNJ11

9.55e-062108216501027
Pubmed

Molecular characterization of radiation- and chemically induced mutations associated with neuromuscular tremors, runting, juvenile lethality, and sperm defects in jdf2 mice.

OCA2 HERC2

9.55e-062108210441737
Pubmed

A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.

OCA2 HERC2

9.55e-062108218252222
Pubmed

Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.

OCA2 HERC2

9.55e-062108218252221
Pubmed

Kir6.1 Heterozygous Mice Exhibit Aberrant Amygdala-Dependent Cued Fear Memory.

KCNJ8 KCNJ11

9.55e-062108231808063
Pubmed

Riboflavin uptake transporter Slc52a2 (RFVT2) is upregulated in the mouse mammary gland during lactation.

SLC52A1 SLC52A2

9.55e-062108226791833
Pubmed

Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse.

OCA2 HERC2

9.55e-06210821495987
Pubmed

Kir6.2-containing ATP-sensitive K(+) channel is required for cardioprotection of resveratrol in mice.

KCNJ8 KCNJ11

9.55e-062108224498880
Pubmed

Memantine improves cognitive deficits via KATP channel inhibition in olfactory bulbectomized mice.

KCNJ8 KCNJ11

9.55e-062108234715352
Pubmed

Gender is a major factor explaining discrepancies in eye colour prediction based on HERC2/OCA2 genotype and the IrisPlex model.

OCA2 HERC2

9.55e-062108223601698
Pubmed

Pleiotropy in microdeletion syndromes: neurologic and spermatogenic abnormalities in mice homozygous for the p6H deletion are likely due to dysfunction of a single gene.

OCA2 HERC2

9.55e-06210827604002
Pubmed

The effects of mutant p-alleles on the reproductive system in mice.

OCA2 HERC2

9.55e-06210824435358
Pubmed

Further insight into the global variability of the OCA2-HERC2 locus for human pigmentation from multiallelic markers.

OCA2 HERC2

9.55e-062108234795370
Pubmed

A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice.

OCA2 HERC2

9.55e-06210829689098
Pubmed

VIRMA promotes the progression of head and neck squamous cell carcinoma by regulating UBR5 mRNA and m6A levels.

VIRMA UBR5

9.55e-062108238577917
Pubmed

Complete Deletion of Slc52a2 Causes Embryonic Lethality in Mice.

SLC52A1 SLC52A2

9.55e-062108233518683
Pubmed

Identification of receptors for pig endogenous retrovirus.

SLC52A1 SLC52A2

9.55e-062108212740431
Pubmed

Molecular and functional characterization of the endothelial ATP-sensitive potassium channel.

KCNJ8 KCNJ11

9.55e-062108228893911
Pubmed

KATP channels are necessary for glucose-dependent increases in amyloid-β and Alzheimer's disease-related pathology.

KCNJ8 KCNJ11

9.55e-062108237129980
Pubmed

Variants at the OCA2/HERC2 locus affect time to first cutaneous squamous cell carcinoma in solid organ transplant recipients collected using two different study designs.

OCA2 HERC2

9.55e-062108228456133
Pubmed

Involvement of riboflavin transporter RFVT2/Slc52a2 in hepatic homeostasis of riboflavin in mice.

SLC52A1 SLC52A2

9.55e-062108223911957
Pubmed

Targeting the E3 ubiquitin ligases DCAF15 and cereblon for cancer therapy.

DCAF15 CRBN

9.55e-062108232200025
Pubmed

Genotyping of five single nucleotide polymorphisms in the OCA2 and HERC2 genes associated with blue-brown eye color in the Japanese population.

OCA2 HERC2

9.55e-062108219472299
Pubmed

Kir6.1/K-ATP channel modulates microglia phenotypes: implication in Parkinson's disease.

KCNJ8 KCNJ11

9.55e-062108229540778
Pubmed

International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels.

KCNJ8 KCNJ9 KCNJ11

1.29e-0515108316382105
Pubmed

Mbd3, a component of the NuRD co-repressor complex, is required for development of pluripotent cells.

PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14

1.30e-0546108417287250
Pubmed

DUX is a non-essential synchronizer of zygotic genome activation.

PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14

1.81e-0550108431806660
Pubmed

Transcriptome analysis of mouse stem cells and early embryos.

DOCK11 SMCHD1 PRAMEF1 PRAMEF2 PRAMEF13 GFPT1 SLC18A1 PRAMEF14

1.85e-05363108814691545
Pubmed

Differential expression of PRAMEL1, a cancer/testis antigen, during spermatogenesis in the mouse.

PRAMEF1 PRAMEF2 PRAMEF13

1.92e-0517108323565261
Pubmed

Mouse Pramel1 regulates spermatogonial development by inhibiting retinoic acid signaling during spermatogenesis.

PRAMEF1 PRAMEF2 PRAMEF13

1.92e-0517108337781892
Pubmed

Pramel15 facilitates zygotic nuclear DNMT1 degradation and DNA demethylation.

PRAMEF1 PRAMEF2 PRAMEF13

2.30e-0518108339181896
Pubmed

Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.

OCA2 CD44 HERC2

2.72e-0519108322561518
Pubmed

Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome.

SLC52A1 SLC52A2

2.86e-053108224139842
Pubmed

Molecular basis and characteristics of KATP channel in human corporal smooth muscle cells.

KCNJ8 KCNJ11

2.86e-053108212934053
Pubmed

Analysis of two KCNJ11 neonatal diabetes mutations, V59G and V59A, and the analogous KCNJ8 I60G substitution: differences between the channel subtypes formed with SUR1.

KCNJ8 KCNJ11

2.86e-053108219139106
Pubmed

GPR43 activation enhances psoriasis-like inflammation through epidermal upregulation of IL-6 and dual oxidase 2 signaling in a murine model.

FFAR2 DUOX2

2.86e-053108228212864
Pubmed

Unique properties of the ATP-sensitive K⁺ channel in the mouse ventricular cardiac conduction system.

KCNJ8 KCNJ11

2.86e-053108221984445
Pubmed

Placental stem cell markers in pre-eclampsia.

CD34 CD44

2.86e-053108218048043
Pubmed

SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation.

SLC52A1 SLC52A2

2.86e-053108226976849
Pubmed

Cardiac sulfonylurea receptor short form-based channels confer a glibenclamide-insensitive KATP activity.

KCNJ8 KCNJ11

2.86e-053108218001767
Pubmed

The Expression of Riboflavin Transporters in Human Colorectal Cancer.

SLC52A1 SLC52A2

2.86e-053108229715086
Pubmed

Mapping of the physical interaction between the intracellular domains of an inwardly rectifying potassium channel, Kir6.2.

KCNJ8 KCNJ11

2.86e-053108210559219
Pubmed

Sulphonylurea receptor 2B and Kir6.1 form a sulphonylurea-sensitive but ATP-insensitive K+ channel.

KCNJ8 KCNJ11

2.86e-05310829130167
Pubmed

A mechanism for ATP-sensitive potassium channel diversity: Functional coassembly of two pore-forming subunits.

KCNJ8 KCNJ11

2.86e-053108211136227
Pubmed

Investigation of genotype-phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing.

ABCA4 EYS

2.86e-053108234315337
Pubmed

Abnormal spermiogenesis in two pink-eyed sterile mutants in the mouse.

OCA2 HERC2

2.86e-05310825565073
Pubmed

Expression of functional Kir6.1 channels regulates glutamate release at CA3 synapses in generation of epileptic form of seizures.

KCNJ8 KCNJ11

2.86e-053108217883401
Pubmed

Riboflavin Transporter Deficiency

SLC52A1 SLC52A2

2.86e-053108226072523
Pubmed

Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations.

OCA2 HERC2

2.86e-053108223118974
Pubmed

Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype.

OCA2 HERC2

2.86e-053108219208107
Pubmed

The central region of Gadd45 is required for its interaction with p21/WAF1.

GADD45A CCNE1

2.86e-053108210912791
Pubmed

Novel riboflavin transporter family RFVT/SLC52: identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52.

SLC52A1 SLC52A2

2.86e-053108223506902
Pubmed

The huntingtin interacting protein HIP1 is a clathrin and alpha-adaptin-binding protein involved in receptor-mediated endocytosis.

HIP1 AP2A1

2.86e-053108211532990
Pubmed

Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain.

SLC52A1 SLC52A2

2.86e-053108220463145
Pubmed

An interaction network of the mammalian COP9 signalosome identifies Dda1 as a core subunit of multiple Cul4-based E3 ligases.

DCAF15 LRR1 KLHL12 CRBN

3.51e-0559108419295130
Pubmed

UBE2S interacting with TRIM21 mediates the K11-linked ubiquitination of LPP to promote the lymphatic metastasis of bladder cancer.

GFPT1 UBR5 HERC2

3.72e-0521108337422473
Pubmed

Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries.

ANKFY1 TSPOAP1 VIRMA FOCAD RPAP1 UBR5 RAB3GAP2 VPS13B

4.17e-05407108812693553
Pubmed

Host E3 ligase HUWE1 attenuates the proapoptotic activity of the MERS-CoV accessory protein ORF3 by promoting its ubiquitin-dependent degradation.

ANKFY1 SMCHD1 GFPT1 NUP205 AP2A1 RNH1 UBR5 USO1 RAB3GAP2

4.52e-05534108935032548
Pubmed

Dimerization quality control ensures neuronal development and survival.

KLHL1 KLHL20 KLHL12

5.62e-0524108330190310
Pubmed

mTORC2 interactome and localization determine aggressiveness of high-grade glioma cells through association with gelsolin.

MAPKAP1 GFPT1 NUP205 AP2A1 RNH1 USO1 RAB3GAP2

5.62e-05312108737120454
Pubmed

Human eye colour and HERC2, OCA2 and MATP.

OCA2 HERC2

5.71e-054108220457063
Pubmed

Analysis of the human VPS13 gene family.

VPS13A VPS13B

5.71e-054108215498460
Pubmed

Assembly limits the pharmacological complexity of ATP-sensitive potassium channels.

KCNJ8 KCNJ11

5.71e-054108211825905
Pubmed

Genetic analysis of three important genes in pigmentation and melanoma susceptibility: CDKN2A, MC1R and HERC2/OCA2.

OCA2 HERC2

5.71e-054108220629734
Pubmed

Localization to mature melanosomes by virtue of cytoplasmic dileucine motifs is required for human OCA2 function.

OCA2 AP2A1

5.71e-054108219116314
Pubmed

Expression of mRNA transcripts for ATP-sensitive potassium channels in human myometrium.

KCNJ8 KCNJ11

5.71e-054108212356945
Pubmed

Atm-, p53-, and Gadd45a-deficient mice show an increased frequency of homologous recombination at different stages during development.

OCA2 GADD45A

5.71e-054108214500365
Pubmed

Expression of ATP-sensitive K+ channel subunits during perinatal maturation in the mouse heart.

KCNJ8 KCNJ11

5.71e-054108216085792
Pubmed

Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel.

KCNJ8 KCNJ11

5.71e-054108228842488
Pubmed

HIP1 functions in clathrin-mediated endocytosis through binding to clathrin and adaptor protein 2.

HIP1 AP2A1

5.71e-054108211517213
Pubmed

KAP1 facilitates reinstatement of heterochromatin after DNA replication.

VIRMA GFPT1 NUP205 RPAP1 AP2A1 RNH1 UBR5 USO1 RAB3GAP2 DNAH5

7.07e-057041081029955894
Pubmed

Mapping the interactome of HPV E6 and E7 oncoproteins with the ubiquitin-proteasome system.

DCAF15 KLHL1 KLHL20 FBXL6 LRR1

7.34e-05138108528786561
Cytoband1p36.21

PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14

1.55e-056310841p36.21
GeneFamilyPRAME family

PRAMEF1 PRAMEF2 PRAMEF13 PRAMEF14

1.84e-0624684686
GeneFamilyPotassium voltage-gated channel subfamily J

KCNJ8 KCNJ9 KCNJ11

2.75e-0516683276
GeneFamilyKelch like|BTB domain containing

KLHL1 KLHL20 KLHL12

5.26e-0442683617
GeneFamilyATP binding cassette subfamily A

ABCA4 ABCA13

1.23e-0314682805
GeneFamilyBasic leucine zipper proteins|BTB domain containing

ANKFY1 KLHL1 KLHL20 KLHL12

1.63e-03134684861
GeneFamilyCyclins

CCNE1 CCNB3

4.95e-0328682473
ToppCellPND28-Immune-Immune_Myeloid-Monocytic-Macrophage-AM-AM_prolif|PND28 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

CTC1 FFAR2 CCNE1 LRR1 USO1 CD44 ZFYVE26

2.58e-0717710871d5a071157c755f3a27a5c3143015da04ee0b0dc
ToppCellfacs-Thymus-Thymus_Epithelium-18m-Lymphocytic-thymocyte|Thymus / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

ABCA4 ABCA13 SPTA1 NRK DNAH5 UNC80

5.84e-0618410862cbed6462fea2622871bb7e49b0df3d984239281
ToppCellfacs-Thymus-Thymus_Epithelium-18m-Lymphocytic|Thymus / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

ABCA4 ABCA13 SPTA1 NRK DNAH5 UNC80

5.84e-061841086ea7a7e2bac46d4d2c31a5d576b38a032b5335062
ToppCellfacs-Thymus-Thymus_Epithelium-18m-Lymphocytic-proliferating_thymocyte;_DN_to_DP_transition,_dividing_(some_are_Cd8+/_Cd4+,_some_undergoing_VDJ_recombination)|Thymus / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

ABCA4 ABCA13 SPTA1 NRK DNAH5 UNC80

5.84e-0618410862b19a8c5f823e00812908b23e66bb4e563278aff
ToppCellTracheal-NucSeq-Epithelial-Epi_airway_neuro-secretory-Neuroendocrine|NucSeq / Cell types per location group and 10X technology with lineage, and cell group designations

TMPRSS13 HLA-DOA FFAR2 SLC26A9 NR0B1 UNC80

8.38e-06196108695544097577f20ed7f4144bd940471cde0617554
ToppCellSepsis-ICU-NoSEP-Lymphocyte-T/NK-NK_CD56bright|ICU-NoSEP / Disease, condition lineage and cell class

HIP1 KLRC4 FOCAD KRBA1 LRRC1 RABGGTA

9.40e-062001086c2df917900872453ea17a39928e39d071a6d3339
ToppCellP07-Hematopoietic-Erythroid|P07 / developmental_time, Lineage, Cell group, Cell type, Cell type_cellcyc-phase

HLA-DOA SPTA1 TRPC4 GADD45A MST1

9.82e-0611710851820396bd590020a83fac3416d559e32f41eab61
ToppCellP07-Hematopoietic-Erythroid-enucleate_erythrocyte|P07 / developmental_time, Lineage, Cell group, Cell type, Cell type_cellcyc-phase

HLA-DOA SPTA1 TRPC4 GADD45A MST1

9.82e-06117108543c7257788fe3d53d663365d1754aee6ad88bbc5
Diseasegastric adenocarcinoma (is_implicated_in)

ABCA13 UBR5 CD44

6.30e-06111013DOID:3717 (is_implicated_in)
DiseaseSKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1

OCA2 HERC2

1.16e-0521012227220
DiseaseSKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

OCA2 HERC2

1.16e-0521012cv:C1856895
DiseaseBrown-Vialetto-Van Laere syndrome (implicated_via_orthology)

SLC52A1 SLC52A2

3.47e-0531012DOID:0050694 (implicated_via_orthology)
DiseaseCoats plus syndrome

CTC1 POT1

3.47e-0531012cv:C2677299
DiseaseCohen syndrome (implicated_via_orthology)

VPS13A VPS13B

3.47e-0531012DOID:0111590 (implicated_via_orthology)
Diseaseselenium measurement, response to dietary selenium supplementation

SLC18A1 LRRC8B DNAH5

4.25e-05201013EFO_0006331, EFO_0600021
Diseasesuntan, skin pigmentation

OCA2 HERC2

6.93e-0541012EFO_0003784, EFO_0004279
Diseaseeye color

OCA2 NUP205 EYS HERC2

2.64e-04901014EFO_0003949
Diseasemean corpuscular hemoglobin concentration

FFAR2 SPTA1 POT1 RTTN GADD45A FOCAD KRBA1 UBR5 VPS13A SLC12A7 ZNF654 VPS13B

3.98e-04110510112EFO_0004528
Diseaseretinal vasculature measurement

CTC1 OCA2 FRY EYS LRRC8B HERC2 SLC12A7 DNAH5

4.09e-045171018EFO_0010554
Diseasehair colour measurement, eye colour measurement, skin pigmentation measurement

OCA2 HERC2

5.13e-04101012EFO_0007009, EFO_0007822, EFO_0009764
Diseasepigmentation disease (is_implicated_in)

OCA2 HERC2

6.25e-04111012DOID:10123 (is_implicated_in)
Diseasekidney cancer (implicated_via_orthology)

LLGL2 LRRC1

6.25e-04111012DOID:263 (implicated_via_orthology)
Diseasetransferrin saturation measurement

FFAR2 DUOX2

1.35e-03161012EFO_0006333
Diseaseskin sensitivity to sun

OCA2 HERC2

1.91e-03191012EFO_0004795

Protein segments in the cluster

PeptideGeneStartEntry
PQLGISLQACLLQIV

ELMOD1

96

Q8N336
RPGVCLQLQDVHLLQ

CTC1

396

Q2NKJ3
ILLQCLLENTPVLED

CEP68

691

Q76N32
LVECIGQELIFLLPN

ABCA4

1221

P78363
ILQVPCLQGTILSEN

ALPK2

1451

Q86TB3
PQQIFIQIAELLDLC

CCNE1

271

P24864
ALQVGCLLRLEPNAQ

AP2A1

936

O95782
GIQQAKVQILPECVL

CRBN

176

Q96SW2
VNLREEILGCLVPIN

ABCA13

2671

Q86UQ4
ELGVCPQQDILLDNL

ABCA13

3916

Q86UQ4
LQLPVEALQKGCPQL

FBXL6

316

Q8N531
INILNVLKCDINIPI

CCNB3

1246

Q8WWL7
PLAALCALVNNLIEI

ANO8

766

Q9HCE9
LCEVLNLDPRQVLIA

OCA2

456

Q04671
EILEQILELPLQQFC

TSPOAP1

1311

O95153
QQQALLLLPVCLALT

GSG1L2

6

A8MUP6
QCPEGIVLLLLQAIL

KCNJ9

131

Q92806
QLALIVCPLEQLLQG

NUP205

871

Q92621
LAIRNQLPLVVDAIC

ANKFY1

661

Q9P2R3
LAQLLNEDPVLQLKC

RAB3GAP2

176

Q9H2M9
SPLQGLINCLKEILV

KRBA1

206

A5PL33
NQLDVVLPVRLELCL

FFAR2

171

O15552
ECPLAITVLILQNIV

KCNJ8

151

Q15842
QICPLQIQLGDILVI

EYS

76

Q5T1H1
LLPGQCQLVTLLDDN

LLGL2

81

Q6P1M3
ALLCQGLVVDVPALL

INPP5E

491

Q9NRR6
LIQFPCKIGQLINLR

LRR1

261

Q96L50
SGKQCLPLVQLIQQL

HERC2

1001

O95714
LCLAQQILNLPEIVF

KIAA2026

311

Q5HYC2
PIIIQLLSDRCLQVL

DUOX2

661

Q9NRD8
ECPLAILILIVQNIV

KCNJ11

141

Q14654
LAQALEALQPALQCL

MOAP1

146

Q96BY2
GILLCQIPIDLTLQN

MUC19

1161

Q7Z5P9
IDIIVIRQPNGNLQC

LPIN1

31

Q14693
QCRIIIPQDVGLTIL

HSPA12A

501

O43301
PVQNIVGILCRGLLL

PARP4

441

Q9UKK3
ELPQEIGNLKNLLCL

LRRC1

211

Q9BTT6
NCLIVEENLLNTLPL

LRRC8B

776

Q6P9F7
CGIVTQPLQEVLLLK

OOSP1

81

A8MZH6
GNTLTILLICIDPQL

OR2AE1

41

Q8NHA4
QVLPLDQQLVLVRNC

NR0B1

276

P51843
ENVQELLPAACLLQL

KLHL12

101

Q53G59
GNVQTLLPAACLLQL

KLHL20

136

Q9Y2M5
LLPAACLLQLAEIQE

KLHL20

141

Q9Y2M5
LLSVLHQLLEGQCNP

CPZ

81

Q66K79
SRVELGQPNILICIV

HLA-DOA

121

P06340
SPQELINILILLEVC

DOCK11

1306

Q5JSL3
GLCLVPLSLAQIDLN

CD44

11

P16070
LLEELDNGVLLCQLI

GAS2L3

71

Q86XJ1
LLNVDPDNVVLCLLA

GADD45A

46

P24522
LEQLLQPIVLGQCTA

GPAT2

401

Q6NUI2
QPLLLIQEICANLGL

ENO4

371

A6NNW6
PVNLLNDIVILQLNG

ELANE

111

P08246
LLCAQLQLPQLSDLG

FANCE

326

Q9HB96
FPLNVLCLLPQLIQH

FRY

2141

Q5TBA9
LLLLLTQCLGVPGQR

MST1

6

P26927
CEQLLLLVSQLRAPG

GUSBP1

116

Q15486
LPCLQNILGVILFLR

SLC12A7

126

Q9Y666
IVLIPCIGVLEQNNF

KLRC4

91

O43908
LLLAQSEVRPQCLLL

CD34

231

P28906
VCPETNQVLINIGLL

DCAF15

481

Q66K64
LALLKVLLQPQVLCD

FOCAD

196

Q5VW36
GQLLPHLLDQLEICQ

DNAH5

1686

Q8TE73
QLIRCLQNPLENLEL

PRAMEF13

286

Q5VWM6
LHLCVQQPLQLLQVE

PIDD1

51

Q9HB75
PCILHFQILLQNPLQ

PCDHB3

101

Q9Y5E6
IQILVIIQLPFCGPN

OR4B1

156

Q8NGF8
IIPQNIIILPDCLGI

NRK

1456

Q7Z2Y5
FQLLLDIQSPLLEQC

RTL3

291

Q8N8U3
LLQSCLLVEPDLVIQ

RTTN

1691

Q86VV8
GIVVEDCLILLQNLL

USO1

226

O60763
PKQCLILGEQIDLLQ

SMCHD1

1896

A6NHR9
ISILVGNICLQLAPE

SLC26A9

131

Q7LBE3
CLQGILSVIPLQLLA

GFPT1

661

Q06210
QLIRCLQNPLENLEL

PRAMEF14

286

Q5SWL7
CQAVGILEQLAELLP

RABGGTA

546

Q92696
AAGQCRLAPLIQVIL

HIP1

216

O00291
NNGILPLSNECLLLI

POT1

441

Q9NUX5
QGLSALLPCVLALVQ

SLC52A2

151

Q9HAB3
ILSVRLEQCPLQLNN

MAPKAP1

141

Q9BPZ7
LLATLCQLQELLPEV

SHOC1

1071

Q5VXU9
QLIRCLQNPLENLEL

PRAMEF1

286

O95521
QLIRCLQNPLENLEL

PRAMEF2

286

O60811
LEQQLPVLLQTLLGN

NINL

41

Q9Y2I6
GIQLRTPQLGILLCL

REELD1

436

A0A1B0GV85
IILCELINKLQPGSV

CNN3

56

Q15417
IVCLGFLLLLNVGQL

TMEM35B

116

Q8NCS4
LLPLNLEVVVERNLC

VPS13A

1286

Q96RL7
EGQKQLPLIGCVLLL

TMPRSS13

161

Q9BYE2
ALNIVECLLQLGVVP

UNC80

676

Q8N2C7
QILLGIQELLNEPNI

UBE2I

111

P63279
TQVPLVLQALLSCLE

ARHGAP40

286

Q5TG30
QGLSALLPCVLALVQ

SLC52A1

151

Q9NWF4
QLLAELQCQLSLPQA

PRR19

146

A6NJB7
PLNISLVEGQRCNVL

SPATA31D1

731

Q6ZQQ2
VLLCQLLNNLLPHAI

VAV1

41

P15498
LALQLCESFLIPQLQ

ZNF654

276

Q8IZM8
AELLPLLQQCQVVRL

RNH1

21

P13489
CLLELDQQIKALGVP

SPTA1

2101

P02549
ALLAQLCQPQVLPNL

RPAP1

1181

Q9BWH6
LCSIQGLAVNIDPIL

VPS13B

946

Q7Z7G8
LIIENILFLGKQCLP

ZMYM1

556

Q5SVZ6
ILQSLCDQDIALILP

VIRMA

1286

Q69YN4
EDILQALVVCPNLLR

ZFYVE26

51

Q68DK2
LLPVLVLCVLLLQAQ

WFDC10A

6

Q9H1F0
ININCIDPLGRTALL

TRPC4

61

Q9UBN4
NIGRILGLCLLQNEL

UBR5

2531

O95071
LEGCPQLILQLYILL

XKR9

141

Q5GH70
NQLRILLLQNDPCLL

ZC3HAV1L

151

Q96H79
LALLDGALQLCILQP

SLC18A1

266

P54219
TIENLLAAACLLQLP

KLHL1

281

Q9NR64
LAAACLLQLPQVVEV

KLHL1

286

Q9NR64