Cluster composition

Functions

CategoryNameIntersectionWithQueryPValueGenesInTermGenesInQueryGenesInTermInQueryID
GeneOntologyMolecularFunctiontransporter activity

SLC16A13 SLC4A7 TIMM23B SLC22A15 TIMM23 ABCC5 KCNK16 CALHM6 SLC35E2B CYB561A3 ABCA7 SLC35E2A TRPM8 CACNA1G RFT1 ATP1B3 ABCC10

2.13e-04128910017GO:0005215
GeneOntologyMolecularFunctiontransmembrane transporter activity

SLC16A13 SLC4A7 TIMM23B SLC22A15 TIMM23 ABCC5 KCNK16 CALHM6 SLC35E2B CYB561A3 ABCA7 SLC35E2A TRPM8 CACNA1G ATP1B3 ABCC10

2.45e-04118010016GO:0022857
GeneOntologyMolecularFunctionglycerophosphodiester phosphodiesterase activity

GDPD2 GDPD5

3.68e-0461002GO:0008889
GeneOntologyMolecularFunctionmacromolecule transmembrane transporter activity

TIMM23B TIMM23 ABCC5

6.52e-04341003GO:0022884
GeneOntologyMolecularFunctionactive transmembrane transporter activity

SLC16A13 SLC4A7 ABCC5 SLC35E2B CYB561A3 ABCA7 SLC35E2A ATP1B3 ABCC10

6.54e-044771009GO:0022804
GeneOntologyMolecularFunctiondolichyl-phosphate-mannose-protein mannosyltransferase activity

POMT2 POMT1

6.82e-0481002GO:0004169
DomainArp1

ACTR1B ACTR1A

2.73e-052982IPR029909
DomainPMT_4TMC

POMT2 POMT1

2.73e-052982PF16192
DomainPMT_4TMC

POMT2 POMT1

2.73e-052982IPR032421
DomainPMT

POMT2 POMT1

2.73e-052982PF02366
DomainGlyco_trans_39/83

POMT2 POMT1

2.73e-052982IPR003342
DomainGlyclTrfase_39-like

POMT2 POMT1

1.62e-044982IPR027005
DomainMAPEG-like_dom

TMEM79 LTC4S

5.63e-047982IPR023352
DomainGP_PDE_dom

GDPD2 GDPD5

5.63e-047982IPR030395
Domain-

TMEM79 LTC4S

5.63e-0479821.20.120.550
DomainGlyceroP-diester-Pdiesterase

GDPD2 GDPD5

5.63e-047982IPR004129
DomainGP_PDE

GDPD2 GDPD5

5.63e-047982PS51704
DomainGDPD

GDPD2 GDPD5

5.63e-047982PF03009
DomainMIR

POMT2 POMT1

1.19e-0310982PS50919
DomainMIR

POMT2 POMT1

1.19e-0310982PF02815
DomainSugar_P_trans_dom

SLC35E2B SLC35E2A

1.19e-0310982IPR004853
DomainMIR

POMT2 POMT1

1.19e-0310982SM00472
DomainMIR_motif

POMT2 POMT1

1.19e-0310982IPR016093
DomainTPT

SLC35E2B SLC35E2A

1.19e-0310982PF03151
DomainABC_transporter_CS

ABCC5 ABCA7 ABCC10

1.39e-0342983IPR017871
DomainABC_tran

ABCC5 ABCA7 ABCC10

2.04e-0348983PF00005
DomainABC_TRANSPORTER_2

ABCC5 ABCA7 ABCC10

2.04e-0348983PS50893
DomainABC_TRANSPORTER_1

ABCC5 ABCA7 ABCC10

2.17e-0349983PS00211
DomainABC_transporter-like

ABCC5 ABCA7 ABCC10

2.30e-0350983IPR003439
DomainLY

LDLR ROS1

2.74e-0315982SM00135
DomainLDLR_classB_rpt

LDLR ROS1

2.74e-0315982IPR000033
DomainActin_CS

ACTR1B ACTR1A

3.12e-0316982IPR004001
DomainACTINS_2

ACTR1B ACTR1A

3.52e-0317982PS00432
DomainActin/actin-like_CS

ACTR1B ACTR1A

3.95e-0318982IPR020902
DomainACTINS_ACT_LIKE

ACTR1B ACTR1A

4.40e-0319982PS01132
Pubmed

The interactome of metabolic enzyme carbonic anhydrase IX reveals novel roles in tumor cell migration and invadopodia/MMP14-mediated invasion.

SLC4A7 HM13 LDLR C2CD2 IGF2R LNPK PBXIP1

8.69e-07176101728692057
Pubmed

ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1.

POMT2 TMEM67 LAMC3 POMT1 HM13 ABCA7 LDLR DMXL1 IGF2R RNFT1 TMED9 RFT1 ATP1B3 PBXIP1 ADGRA3

2.01e-0612011011535696571
Pubmed

Characterization of SARS-CoV-2 proteins reveals Orf6 pathogenicity, subcellular localization, host interactions and attenuation by Selinexor.

TIMM23B HM13 ACTR1A ESYT2 FASN IGF2R CLNS1A TMED9 ATP1B3

3.11e-06408101933766124
Pubmed

Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis.

SLC4A7 TMEM237 AHCTF1 HM13 C2CD2 ESYT2 FASN LNPK RFT1 PBXIP1

6.34e-065681011037774976
Pubmed

Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2.

POMT2 POMT1

8.35e-062101219880378
Pubmed

SLC35E2 promoter mutation as a prognostic marker of esophageal squamous cell carcinoma.

SLC35E2B SLC35E2A

8.35e-062101235247439
Pubmed

Physical and functional association of human protein O-mannosyltransferases 1 and 2.

POMT2 POMT1

8.35e-062101216698797
Pubmed

POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.

POMT2 POMT1

8.35e-062101218513969
Pubmed

POMT1 and POMT2 gene mutations result in 2 cases of alpha-dystroglycanopathy.

POMT2 POMT1

8.35e-062101234565739
Pubmed

Hormonal regulation of mitochondrial Tim23 gene expression in the mouse mammary gland.

TIMM23B TIMM23

8.35e-062101211165051
Pubmed

Beta-centractin: characterization and distribution of a new member of the centractin family of actin-related proteins.

ACTR1B ACTR1A

8.35e-06210127696711
Pubmed

Walker-Warburg syndrome.

POMT2 POMT1

8.35e-062101216887026
Pubmed

Mammalian O-mannosylation of cadherins and plexins is independent of protein O-mannosyltransferases 1 and 2.

POMT2 POMT1

8.35e-062101228512129
Pubmed

Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity.

POMT2 POMT1

8.35e-062101214699049
Pubmed

Effect of Tim23 knockdown in vivo on mitochondrial protein import and retrograde signaling to the UPRmt in muscle.

TIMM23B TIMM23

8.35e-062101229949403
Pubmed

Different roles of the two components of human protein O-mannosyltransferase, POMT1 and POMT2.

POMT2 POMT1

8.35e-062101221782786
Pubmed

Interrogating the protein interactomes of RAS isoforms identifies PIP5K1A as a KRAS-specific vulnerability.

SLC4A7 TMEM237 MARK1 ABCC5 HM13 ESYT2 IGF2R LNPK RFT1

9.21e-06467101930194290
Pubmed

The STUbL RNF4 regulates protein group SUMOylation by targeting the SUMO conjugation machinery.

SLC4A7 TMEM237 AHCTF1 HM13 LDLR ESYT2 FASN IGF2R TMED9 ZMYM1 LNPK CDC20 ATP1B3 PBXIP1

1.01e-0512031011429180619
Pubmed

Multilevel proteomics reveals host perturbations by SARS-CoV-2 and SARS-CoV.

TMPPE VPS18 TMEM237 POMT1 LDLR C2CD2 BLVRA IGF2R TMED9 RFT1 FITM2 ABCC10 ADGRA3

1.26e-0510611011333845483
Pubmed

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

TIMM23B LAMC3 SLC35E2B ABCA7 LDLR C2CD2 ACOX3 ACTR1A GDPD5 FASN IGF2R PCNX1 ABCC10

1.93e-0511051011335748872
Pubmed

SARS-CoV-2 Nsp6 damages Drosophila heart and mouse cardiomyocytes through MGA/MAX complex-mediated increased glycolysis.

TIMM23B HM13 ACTR1A ESYT2 FASN IGF2R CLNS1A TMED9 PCNX1 ATP1B3

2.22e-056571011036180527
Pubmed

Isolation and characterization of two serpentine membrane proteins containing glycerophosphodiester phosphodiesterase, GDE2 and GDE6.

GDPD2 GDPD5

2.50e-053101215276213
Pubmed

Tim50 is a subunit of the TIM23 complex that links protein translocation across the outer and inner mitochondrial membranes.

TIMM23B TIMM23

2.50e-053101212437925
Pubmed

Downregulation of VEGFR3 signaling alters cardiac lymphatic vessel organization and leads to a higher mortality after acute myocardial infarction.

FLT4 LDLR

2.50e-053101230420641
Pubmed

Deletion of haematopoietic Dectin-2 or CARD9 does not protect from atherosclerosis development under hyperglycaemic conditions.

CLEC6A LDLR

2.50e-053101231868000
Pubmed

Mutant huntingtin does not cross the mitochondrial outer membrane.

TIMM23B TIMM23

2.50e-053101232821928
Pubmed

Development of renal failure in PargParp-1 null and Timm23 hypomorphic mice.

TIMM23B TIMM23

2.50e-053101231326434
Pubmed

POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo.

POMT2 POMT1

2.50e-053101218490429
Pubmed

Defective mitochondrial protein import contributes to complex I-induced mitochondrial dysfunction and neurodegeneration in Parkinson's disease.

TIMM23B TIMM23

2.50e-053101230405116
Pubmed

Effects of deletion of macrophage ABCA7 on lipid metabolism and the development of atherosclerosis in the presence and absence of ABCA1.

ABCA7 LDLR

2.50e-053101222403608
Pubmed

Lymphatic vessel insufficiency in hypercholesterolemic mice alters lipoprotein levels and promotes atherogenesis.

FLT4 LDLR

2.50e-053101224723556
Pubmed

POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.

POMT2 POMT1

2.50e-053101220816175
Pubmed

The emerging physiological roles of the glycerophosphodiesterase family.

GDPD2 GDPD5

2.50e-053101224373430
Pubmed

Protein O-mannosylation is crucial for E-cadherin-mediated cell adhesion.

POMT2 POMT1

2.50e-053101224297939
Pubmed

Cigarette smoke extract stimulates PCSK9 production in HepG2 cells via ROS/NF‑κB signaling.

LDLR ROS1

2.50e-053101233760160
Pubmed

Deletion of hematopoietic Dectin-2 or CARD9 does not protect against atherosclerotic plaque formation in hyperlipidemic mice.

CLEC6A LDLR

2.50e-053101230867470
Pubmed

NOX4-TIM23 interaction regulates NOX4 mitochondrial import and metabolic reprogramming.

TIMM23B TIMM23

2.50e-053101237044213
Pubmed

Pseudosarcomatous myofibroblastic proliferations of the genitourinary tract are genetically different from nodular fasciitis and lack USP6, ROS1 and ETV6 gene rearrangements.

USP6 ROS1

2.50e-053101229617048
Pubmed

Identification of 18 mouse ABC genes and characterization of the ABC superfamily in Mus musculus.

ABCC5 ABCA7 ABCC10

4.04e-0523101310708515
Pubmed

Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import.

TIMM23B TIMM23

4.99e-054101219111522
Pubmed

The TIM17.23 preprotein translocase of mitochondria: composition and function in protein transport into the matrix.

TIMM23B TIMM23

4.99e-054101210393182
Pubmed

Tight junction-based epithelial microenvironment and cell proliferation.

CLDN15 CLDN24

4.99e-054101219029935
Pubmed

Expression of the murine Pomt1 gene in both the developing brain and adult muscle tissues and its relationship with clinical aspects of Walker-Warburg syndrome.

POMT2 POMT1

4.99e-054101217456771
Pubmed

Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.

LDLR IGF2R TMED9 ATP1B3

5.61e-0571101412754519
Pubmed

Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism.

POMT2 SLC4A7 LAMC3 POMT1 FAN1 MICU1 ACTR1A USP6 TAS2R14 ZMYM1 ABCC10

7.99e-059251011128986522
Pubmed

Dectin-2 recognition of house dust mite triggers cysteinyl leukotriene generation by dendritic cells.

CLEC6A LTC4S

8.30e-055101219124755
Pubmed

Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality.

POMT2 POMT1

8.30e-055101215383666
Pubmed

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

POMT2 POMT1

8.30e-055101217878207
Pubmed

ER-export and ARFRP1/AP-1-dependent delivery of SARS-CoV-2 Envelope to lysosomes controls late stages of viral replication.

SLC4A7 TMEM237 TIMM23B TIMM23 ABCC5 HM13 ESYT2 IGF2R RFT1 ATP1B3 FITM2

1.03e-049521011138569033
Pubmed

Interpreting cancer genomes using systematic host network perturbations by tumour virus proteins.

HM13 ESYT2 IGF2R RNFT1 LNPK RFT1 FITM2 PBXIP1

1.07e-04499101822810586
Pubmed

Depletion of the 110-kilodalton isoform of poly(ADP-ribose) glycohydrolase increases sensitivity to genotoxic and endotoxic stress in mice.

TIMM23B TIMM23

1.24e-046101215282315
Pubmed

Association of polymorphisms of ABCA1 and ROS1 with hypertension in Japanese individuals.

LDLR ROS1

1.24e-046101218097620
Pubmed

A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.

TIMM23B TIMM23

1.24e-046101224051375
Pubmed

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.

POMT2 POMT1

1.24e-046101219299310
Pubmed

New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing.

VPS18 MARK1 AHCTF1 ACTR1A STARD9 CLNS1A ADAMTS20 IGSF1

1.29e-04513101825798074
Pubmed

Evolutionarily conserved regulators of tau identify targets for new therapies.

HM13 ESYT2 FASN IGF2R CLNS1A TMED9 LNPK ATP1B3

1.34e-04516101836610398
Pubmed

Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8.

G6PC3 LNPK RFT1

1.58e-0436101338070861
Pubmed

The proximal proteome of 17 SARS-CoV-2 proteins links to disrupted antiviral signaling and host translation.

SLC4A7 MARK1 AHCTF1 HM13 IGF2R G6PC3 TMED9 LNPK CDC20 ATP1B3 PBXIP1

1.68e-0410071011134597346
Pubmed

Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology.

TIMM23B TIMM23

1.74e-047101221984432
Pubmed

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.

TMEM67 TMEM237

1.74e-047101226595381
Pubmed

Role of Bax and Bak in mitochondrial morphogenesis.

TIMM23B TIMM23

1.74e-047101217035996
Pubmed

Interactions between the evolutionarily conserved, actin-related protein, Arp11, actin, and Arp1.

ACTR1B ACTR1A

1.74e-047101212857853
Pubmed

Tim50, a component of the mitochondrial translocator, regulates mitochondrial integrity and cell death.

TIMM23B TIMM23

2.31e-048101215044455
Pubmed

Tissue distribution and hepatic and renal ontogeny of the multidrug resistance-associated protein (Mrp) family in mice.

ABCC5 ABCC10

2.31e-048101215802388
Pubmed

The dynamin-related GTPase Drp1 is required for embryonic and brain development in mice.

TIMM23B TIMM23

2.97e-049101219752021
Pubmed

Volumetric imaging reveals VEGF-C-dependent formation of hepatic lymph vessels in mice.

FLT4 LDLR

2.97e-049101236051444
Pubmed

Excess of ovarian nerve growth factor impairs embryonic development and causes reproductive and metabolic dysfunction in adult female mice.

FASN IGF2R NANOS3

3.51e-0447101332892421
Pubmed

Mitocytosis, a migrasome-mediated mitochondrial quality-control process.

TIMM23B TIMM23

3.70e-0410101234048705
Pubmed

Comprehensive interactome profiling of the human Hsp70 network highlights functional differentiation of J domains.

SLC4A7 TMEM237 AHCTF1 HM13 DMXL1 MICU1 ESYT2 IGF2R CLNS1A MRPS9 LNPK ATP1B3 PBXIP1

3.74e-0414871011333957083
Pubmed

LMBR1L regulates lymphopoiesis through Wnt/β-catenin signaling.

AHCTF1 TIMM23 HM13 ESYT2 FASN IGF2R TMED9 LNPK RFT1 ATP1B3

4.22e-049421011031073040
Pubmed

FAM105A/OTULINL Is a Pseudodeubiquitinase of the OTU-Class that Localizes to the ER Membrane.

SLC4A7 HM13 ESYT2 IGF2R LNPK RFT1 PBXIP1

4.43e-04468101731056421
Pubmed

AGO61-dependent GlcNAc modification primes the formation of functional glycans on α-dystroglycan.

POMT2 POMT1

5.41e-0412101224256719
Pubmed

Transcription mapping and expression analysis of candidate genes in the vicinity of the mouse Loop-tail mutation.

TIMM23B TIMM23

6.38e-0413101210920231
Pubmed

C5orf51 is a component of the MON1-CCZ1 complex and controls RAB7A localization and stability during mitophagy.

VPS18 SLC4A7 DMXL1 ESYT2 IGF2R LNPK DOP1B

6.86e-04504101734432599
Pubmed

Dissociation of the glucose and lipid regulatory functions of FoxO1 by targeted knockin of acetylation-defective alleles in mice.

LDLR FASN

7.43e-0414101222055502
Pubmed

Genetic and structural characterization of the human mitochondrial inner membrane translocase.

TIMM23B TIMM23

7.43e-0414101210339406
Pubmed

Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.

KCNK16 FITM2

7.43e-0414101222158537
Pubmed

Quantitative Proteomics Links the LRRC59 Interactome to mRNA Translation on the ER Membrane.

SLC4A7 ESYT2 IGF2R LNPK RFT1 PBXIP1

8.09e-04375101632788342
Pubmed

Identification of G Protein-Coupled Receptors (GPCRs) in Primary Cilia and Their Possible Involvement in Body Weight Control.

PRLHR GALR2

8.55e-0415101226053317
Pubmed

LC-MS/MS Based Quantitation of ABC and SLC Transporter Proteins in Plasma Membranes of Cultured Primary Human Retinal Pigment Epithelium Cells and Immortalized ARPE19 Cell Line.

ABCC5 ABCC10

8.55e-0415101228112518
Pubmed

Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification.

TIMM23B TIMM23

1.10e-0317101211709546
Pubmed

Congenital Muscular Dystrophy Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY

POMT2 POMT1

1.10e-0317101220301468
Pubmed

A BioID-Derived Proximity Interactome for SARS-CoV-2 Proteins.

ABCC5 POMT1 HM13 C2CD2 IGF2R ATP1B3 FITM2 RNF182

1.20e-03719101835337019
Pubmed

Ecm29-mediated proteasomal distribution modulates excitatory GABA responses in the developing brain.

ACTR1A CACNA1G

1.24e-0318101231910261
Pubmed

SREBP-2-deficient and hypomorphic mice reveal roles for SREBP-2 in embryonic development and SREBP-1c expression.

LDLR FASN

1.38e-0319101226685326
Pubmed

Feto-maternal cholesterol transport regulated by β-Klotho-FGF15 axis is essential for fetal growth.

LDLR FASN

1.38e-0319101237541847
Pubmed

HIV-host interactome revealed directly from infected cells.

HM13 FASN IGF2R PBXIP1

1.62e-03172101427375898
Pubmed

Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism.

VPS18 SLC4A7 TIMM23 LDLR MICU1 FASN TMEM242 VSIG10L MRPS9 TMED9 FITM2

1.65e-0313271011132694731
Pubmed

Multifunctional strands in tight junctions.

CLDN15 CLDN24

1.69e-0321101211283726
Pubmed

Claudin-based barrier in simple and stratified cellular sheets.

CLDN15 CLDN24

1.69e-0321101212231346
Pubmed

Limb-Girdle Muscular Dystrophy Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY

POMT2 POMT1

1.69e-0321101220301582
Pubmed

Tight junction proteins.

CLDN15 CLDN24

1.69e-0321101212475568
Pubmed

Tight junctions of the blood-brain barrier.

CLDN15 CLDN24

1.69e-0321101210690502
Pubmed

The roles of claudin superfamily proteins in paracellular transport.

CLDN15 CLDN24

1.69e-0321101211247307
Pubmed

Ltap, a mammalian homolog of Drosophila Strabismus/Van Gogh, is altered in the mouse neural tube mutant Loop-tail.

TIMM23B TIMM23

1.86e-0322101211431695
Pubmed

Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database.

ABCC5 ABCC10

1.86e-032210128894702
Pubmed

Structure and function of claudins.

CLDN15 CLDN24

2.03e-0323101218036336
Pubmed

Perinatal deiodinase 2 expression in hepatocytes defines epigenetic susceptibility to liver steatosis and obesity.

LDLR FASN

2.03e-0323101226508642
Pubmed

The claudins.

CLDN15 CLDN24

2.03e-0323101219706201
Pubmed

The DNA sequence and analysis of human chromosome 6.

KCNK16 CALHM6 MEI4 IGF2R ROS1 ABCC10 OR2H2

2.29e-03622101714574404
GeneFamilyDolichyl D-mannosyl phosphate dependent mannosyltransferases|Phosphatidylinositol glycan anchor biosynthesis

POMT2 POMT1

3.97e-049612430
GeneFamilyATP binding cassette subfamily C

ABCC5 ABCC10

8.53e-0413612807
GeneFamilyClaudins

CLDN15 CLDN24

2.71e-0323612488
CoexpressionMILI_PSEUDOPODIA_HAPTOTAXIS_DN

POMT2 TMPPE SLC16A13 SLC4A7 ABCC5 SLC35E2B LDLR ESYT2 G6PC3 SLC35E2A TMED9 CDC20 FITM2 ADGRA3

5.23e-0770310114MM1055
CoexpressionMILI_PSEUDOPODIA_HAPTOTAXIS_DN

POMT2 TMPPE SLC16A13 SLC4A7 ABCC5 SLC35E2B LDLR ESYT2 G6PC3 TMED9 CDC20 FITM2 ADGRA3

2.20e-0668110113M5314
ToppCell343B-Myeloid-Macrophage-SPP1+_Macrophage_3|Myeloid / Donor, Lineage, Cell class and subclass (all cells)

POMT2 CLDN15 TAS2R14 VSIG10L CACNA1G ADGRA3

9.55e-0714410165e948d4cb913ccd8f82262a1b4d20967aadab3ab
Drug4-hydroxyderricin

LDLR ACOX3 FASN

2.76e-067993CID006438503
DiseaseCobblestone Lissencephaly

POMT2 POMT1

3.01e-053942C0431376
DiseaseMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

POMT2 POMT1

9.98e-055942cv:C4284790
Diseaselissencephaly (is_implicated_in)

POMT2 POMT1

9.98e-055942DOID:0050453 (is_implicated_in)
DiseaseWalker-Warburg syndrome (is_implicated_in)

POMT2 POMT1

9.98e-055942DOID:0050560 (is_implicated_in)
DiseaseMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1

POMT2 POMT1

9.98e-055942236670
DiseaseQualitative or quantitative defects of alpha-dystroglycan

POMT2 POMT1

1.49e-046942cv:C2936406
DiseaseWalker-Warburg syndrome (implicated_via_orthology)

POMT2 POMT1

2.09e-047942DOID:0050560 (implicated_via_orthology)
Diseasehemoglobin measurement, mean corpuscular hemoglobin concentration

TMPRSS6 TMEM79

2.78e-048942EFO_0004509, EFO_0004528
DiseaseCongenital muscular dystrophy

POMT2 POMT1

6.49e-0412942cv:C0699743
DiseaseMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K

POMT2 POMT1

8.91e-0414942C1836373
Diseasenephroblastoma (is_implicated_in)

IGF2R BRCA2

8.91e-0414942DOID:2154 (is_implicated_in)
Diseasealpha-Dystroglycanopathies

POMT2 POMT1

8.91e-0414942C2936406
DiseaseMuscle eye brain disease

POMT2 POMT1

8.91e-0414942C0457133
DiseaseFukuyama Type Congenital Muscular Dystrophy

POMT2 POMT1

8.91e-0414942C0410174
DiseaseMuscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1

POMT2 POMT1

8.91e-0414942C4284790
DiseaseWalker-Warburg congenital muscular dystrophy

POMT2 POMT1

1.03e-0315942C0265221
Diseasemelanoma

FASN BRCA2 CLNS1A ADAMTS20 ROS1

1.20e-03248945C0025202
Diseasemuscular dystrophy (is_implicated_in)

POMT2 POMT1

1.32e-0317942DOID:9884 (is_implicated_in)
DiseaseMalignant Glioma

DMXL1 BRCA2 ROS1

1.47e-0370943C0555198
Diseasemixed gliomas

DMXL1 BRCA2 ROS1

1.47e-0370943C0259783
DiseaseFamilial aplasia of the vermis

TMEM67 TMEM237

1.84e-0320942cv:C0431399
DiseaseJoubert syndrome 1

TMEM67 TMEM237

2.03e-0321942C4551568
Diseasehemoglobin measurement, mean corpuscular hemoglobin

TMPRSS6 TIMM23

2.23e-0322942EFO_0004509, EFO_0004527
DiseaseGlioma

DMXL1 BRCA2 ROS1

2.73e-0387943C0017638
Diseaseplatelet component distribution width

VPS18 FLT4 SLC4A7 TMPRSS6 ABCC5 RPP14 CLNS1A NANOS3

2.85e-03755948EFO_0007984
DiseaseHMG CoA reductase inhibitor use measurement

LDLR BRCA2 NANOS3 PCNX1

3.17e-03189944EFO_0009932

Protein segments in the cluster

PeptideGeneStartEntry
YLGLSFSWVLLALAL

ESYT2

131

A0FGR8
VYLWSASSGDILQLL

CDC20

206

Q12834
LSLLGWILSIITTYL

CLDN24

16

A6NM45
AVLGRLSALYALWSL

ACOX3

586

O15254
ALWSLSRHAALLYRG

ACOX3

596

O15254
LLALAVVSVGLWTLY

B4GALNT3

26

Q6L9W6
LLGASLTLLLYVALW

ADGRA3

996

Q8IWK6
RLYSTWIGGSILASL

ACTR1B

336

P42025
LLGDRWILTAAHTLY

C1R

491

P00736
TGSRLLTGSSYLQLW

DMXL1

121

Q9Y485
LKSWLIISLGLYSQV

FLRT2

16

O43155
WLTGLLYHLSLFITR

ADAMTS20

6

P59510
LSRSLPLFLTLAWIY

ABCA7

546

Q8IZY2
LWTDYLGLAHLVRAL

NANOS3

6

P60323
LSSSFLVLSYLLTRW

RFT1

411

Q96AA3
SRLRLLGNYSLWLEG

LY6G6F

81

Q5SQ64
WRTSTDYLLTRLLGE

MAB21L4

246

Q08AI8
LSRFSYAWLAPLLAR

ABCC10

221

Q5T3U5
LILVSYGAITWAVLR

OR2H2

211

O95918
SLLILSWIAISRYAT

GPR82

106

Q96P67
LLSRSYLAVWALSSL

LPAR2

181

Q9HBW0
YLAVWALSSLLVFLL

LPAR2

186

Q9HBW0
STYLWTGLLAISLFL

GPR155

456

Q7Z3F1
VYRSLAAIWILLGLA

KCNK16

231

Q96T55
SLNRRLYAWLLGSDI

DOP1B

291

Q9Y3R5
SLIYWTLFTLGLDLS

G6PC3

211

Q9BUM1
SLSALAELAVGSRWY

MICU1

6

Q9BPX6
LIWLLDYGSRNLTAT

PCNX1

1081

Q96RV3
APLYASARALWLLVA

LTC4S

106

Q16873
LATSSLAVYSILWSG

MT-ND1

106

P03886
LTFLLSLSWLYIGLV

GDPD2

46

Q9HCC8
LLLTFTFGLTLTWLY

GDPD5

46

Q8WTR4
LGLSSIVGVWYLLRK

HM13

166

Q8TCT9
VTLLWFLLLLGSYTV

OR4D6

206

Q8NGJ1
LGLAAYLWELTRSKT

PAGE3

66

Q5JUK9
ALAIYALLSLWYLLR

POMT1

606

Q9Y6A1
LALTWALNYRTGVRL

ABCC5

236

O15440
LVLGLTYARTLRYLW

GALR2

201

O43603
ASYRGSLLSDVLKIW

IGSF1

301

Q8N6C5
LYLLSLLWATAGTST

CBLIF

6

P27352
YADLGTLSRLWLAAL

HEATR5A

1441

Q86XA9
TLYIAESRLSWLDGS

CLNS1A

36

P54105
LATVGLYLAQWALAR

C2CD2

26

Q9Y426
ILSIWRPSSDLYSLL

BRCA2

2986

P51587
YLRSSWNVLDGLLVL

CACNA1G

1341

O43497
LALFLLGYVLSARTW

CALHM6

61

Q5R3K3
LGYVLSARTWRLLTG

CALHM6

66

Q5R3K3
LRRLSTLLVGTAIWY

FITM2

91

Q8N6M3
RLLLGALLVWTAAYV

CCDC188

346

H7C350
RLYSTWIGGSILASL

ACTR1A

336

P61163
ALYLGWSASLISILG

CLDN15

161

P56746
SRLTWLVSLFGELSL

BLVRA

171

P53004
WSLGVILYTLVSGSL

MARK1

241

Q9P0L2
GLLVLYILLASSWKR

CYB561A3

211

Q8NBI2
SSLGLLTGYIRRWIT

AHCTF1

556

Q8WYP5
YLSIVWKTLARALGL

FASN

891

P49327
LLGYFIRSWRTLAIL

SLC22A15

216

Q8IZD6
LWGQSLYILSSLLAE

PHKA2

401

P46019
LRYAVSAALWLAIGI

TMEM67

731

Q5HYA8
LTRLYLDKATLIWNG

NXT2

36

Q9NPJ8
STFSTLYGLLLWDII

FAN1

836

Q9Y2M0
WYLRTSKLALALAII

MEI4

6

A8MW99
KTYDLRLLSSLTGSW

IGF2R

2001

P11717
LAISRISLVWLIFGS

TAS2R14

51

Q9NYV8
QLSYLSLRTSIGLWT

SLC4A7

686

Q9Y6M7
ISLRLSAYAVLAIWA

PRLHR

171

P49683
LWYLFGDLSLSLVTV

POMT2

261

Q9UKY4
VTWYLLAGLRYLDLS

TLR10

111

Q9BXR5
GTYWALLRTLLTLAA

TMEM176A

111

Q96HP8
LILVLYLSTEIWGSS

SMIM23

41

A6NLE4
SDLGVWSSRALLYLT

SLC35E2A

66

P0CK97
SIRVLVWLLGLLYFS

RNF182

181

Q8N6D2
YRDSVLTWLLKDSLG

STARD9

336

Q9P2P6
RTAKSWGLILLFYLV

ATP1B3

31

P54709
LSLRLWSVAGISIAL

CLEC6A

16

Q6EIG7
ALLVGLSWLFLSYRP

TMEM237

366

Q96Q45
LLVLWLATRGSALYF

TMED9

26

Q9BVK6
TLWALSLLLGVARSL

PEX11G

131

Q96HA9
AWLLVFLAGSSVLLY

RNFT1

206

Q5M7Z0
TTGVLLLLAYREWTQ

TMEM212

56

A6NML5
YAWRGSLLLVSALSL

SLC16A13

166

Q7RTY0
ASLLRTYLARLPWAG

PBXIP1

616

Q96AQ6
AVSYRLLLWGRGSLA

MRPS9

11

P82933
TLLYAIEGGTWRLLR

KBTBD13

411

C9JR72
LTTWLTELYLSRLGA

VPS18

491

Q9P253
TYTLALWNSAAGLRR

FLT4

396

P35916
LTGLFAVSRLIYWLT

TMEM79

316

Q9BSE2
SSWLSLELFSFLRYL

KRT10-AS1

66

Q8N816
HLWTRLLSALAGLLY

TMEM44

261

Q2T9K0
SGLISSISIDWLYQR

ROS1

366

P08922
SDLGVWSSRALLYLT

SLC35E2B

66

P0CK96
LWANTLGSLALLYSA

TIMM23B

126

Q5SRD1
TNSSWLLRLAYLADI

ZBED5

466

Q49AG3
LSKLLYIALSWPITS

ZMYM1

1066

Q5SVZ6
LGRTSTYRDWVSLLI

VSIG10L

711

Q86VR7
SRLIYIAQSKGAWIL

TRPM8

166

Q7Z2W7
GLVKLWSSLTLLGSY

RPP14

81

O95059
SSLALRALGWGSLYA

TMEM242

76

Q9NWH2
LWANTLGSLALLYSA

TIMM23

126

O14925
ISLGLTLRLWDVYLV

USP6

276

P35125
ALLVLASAGVLLWYF

TMPRSS6

61

Q8IU80
FVNSLLLIGSLYIWR

TMPPE

51

Q6ZT21
LLIGSLYIWRSTVSN

TMPPE

56

Q6ZT21
ITLDLLSGRLYWVDS

LDLR

566

P01130
TSYALLWNLLEGRVA

LAMC3

1186

Q9Y6N6
LWVGRLILYSSVLYL

LNPK

41

Q9C0E8