Cluster composition

Functions

CategoryNameIntersectionWithQueryPValueGenesInTermGenesInQueryGenesInTermInQueryID
GeneOntologyMolecularFunctionABC-type transporter activity

ABCC11 ABCA4 ABCA5

1.83e-0449453GO:0140359
GeneOntologyMolecularFunctionextracellular matrix constituent conferring elasticity

FBN1 FBN2

3.23e-0412452GO:0030023
GeneOntologyMolecularFunctionstructural molecule activity conferring elasticity

FBN1 FBN2

4.44e-0414452GO:0097493
GeneOntologyBiologicalProcesssequestering of TGFbeta in extracellular matrix

FBN1 FBN2

2.78e-054452GO:0035583
HumanPhenoAbnormal upper to lower segment ratio

FBN1 FBN2

2.10e-053142HP:0012772
DomainFBN

FBN1 FBN2

1.70e-053452IPR011398
DomainTB

FBN1 FBN2

1.18e-047452PF00683
DomainABC_transporter_CS

ABCC11 ABCA4 ABCA5

1.40e-0442453IPR017871
Domain-

FBN1 FBN2

1.57e-0484523.90.290.10
DomainTB

FBN1 FBN2

2.02e-049452PS51364
DomainTB_dom

FBN1 FBN2

2.02e-049452IPR017878
DomainABC_tran

ABCC11 ABCA4 ABCA5

2.10e-0448453PF00005
DomainABC_TRANSPORTER_2

ABCC11 ABCA4 ABCA5

2.10e-0448453PS50893
DomainABC_TRANSPORTER_1

ABCC11 ABCA4 ABCA5

2.23e-0449453PS00211
DomainABC_transporter-like

ABCC11 ABCA4 ABCA5

2.37e-0450453IPR003439
DomainEGF

FBN1 FBN2 FCGBP MUC4 GPR179

2.45e-04235455SM00181
DomainABC_A

ABCA4 ABCA5

3.69e-0412452IPR026082
DomainGrowth_fac_rcpt_

FBN1 FBN2 GPR179 EPHA1

5.35e-04156454IPR009030
DomainVWD

FCGBP MUC4

6.67e-0416452SM00216
DomainVWF_type-D

FCGBP MUC4

6.67e-0416452IPR001846
DomainVWFD

FCGBP MUC4

6.67e-0416452PS51233
DomainVWD

FCGBP MUC4

6.67e-0416452PF00094
DomainPROTEIN_KINASE_TYR

OBSCN MATK EPHA1

1.65e-0397453PS00109
DomainTyr_kinase_AS

OBSCN MATK EPHA1

1.65e-0397453IPR008266
DomaincEGF

FBN1 FBN2

1.78e-0326452IPR026823
DomaincEGF

FBN1 FBN2

1.78e-0326452PF12662
DomainSugar_transporter_CS

SLC2A12 MUC4

2.69e-0332452IPR005829
DomainKringle-like

MRC1 MST1L

2.69e-0332452IPR013806
DomainEGF-like_dom

FBN1 FBN2 FCGBP MUC4

2.99e-03249454IPR000742
DomainEGF-like_CS

FBN1 FBN2 MUC4 EPHA1

3.54e-03261454IPR013032
DomainEGF_2

FBN1 FBN2 MUC4 EPHA1

3.74e-03265454PS01186
DomainAAA+_ATPase

ABCC11 ABCA4 ABCA5

5.03e-03144453IPR003593
DomainAAA

ABCC11 ABCA4 ABCA5

5.03e-03144453SM00382
Pubmed

Diverse Targets of β-Catenin during the Epithelial-Mesenchymal Transition Define Cancer Stem Cells and Predict Disease Relapse.

ABCC11 ABCA4 ABCA5

1.69e-07945326122848
Pubmed

Homo- and heterotypic fibrillin-1 and -2 interactions constitute the basis for the assembly of microfibrils.

FBN1 FBN2

1.64e-06245212399449
Pubmed

Fibrillin-1 and fibrillin-2 are essential for formation of thick oxytalan fibers in human nonpigmented ciliary epithelial cells in vitro.

FBN1 FBN2

1.64e-06245221851253
Pubmed

Fibrillins can co-assemble in fibrils, but fibrillin fibril composition displays cell-specific differences.

FBN1 FBN2

1.64e-06245212429739
Pubmed

Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.

FBN1 FBN2

1.64e-06245224833718
Pubmed

Methylation and Expression of Nonclustered Protocadherins Encoding Genes and Risk of Precancerous Gastric Lesions in a High-Risk Population.

PCDH10 PCDH17

1.64e-06245230213786
Pubmed

New Evidence Supporting the Role of FBN1 in the Development of Adolescent Idiopathic Scoliosis.

FBN1 FBN2

1.64e-06245230044367
Pubmed

Material and mechanical properties of bones deficient for fibrillin-1 or fibrillin-2 microfibrils.

FBN1 FBN2

1.64e-06245221440062
Pubmed

MAGP-2 has multiple binding regions on fibrillins and has covalent periodic association with fibrillin-containing microfibrils.

FBN1 FBN2

1.64e-06245215131124
Pubmed

Nonselective assembly of fibrillin 1 and fibrillin 2 in the rodent ocular zonule and in cultured cells: implications for Marfan syndrome.

FBN1 FBN2

1.64e-06245224265020
Pubmed

Fibrillin-1 and fibrillin-2 in human embryonic and early fetal development.

FBN1 FBN2

1.64e-06245212524050
Pubmed

In vivo studies of mutant fibrillin-1 microfibrils.

FBN1 FBN2

1.64e-06245220529844
Pubmed

Immunohistochemical expression of fibrillin-1 and fibrillin-2 during tooth development.

FBN1 FBN2

1.64e-06245225524144
Pubmed

Microfibril structure masks fibrillin-2 in postnatal tissues.

FBN1 FBN2

1.64e-06245220404337
Pubmed

Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.

FBN1 FBN2

1.64e-06245223133647
Pubmed

Fibrillln mutations in Marfan syndrome and related phenotypes.

FBN1 FBN2

1.64e-0624528791520
Pubmed

Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices.

FBN1 FBN2

1.64e-0624528120105
Pubmed

The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.

FBN1 FBN2

1.64e-06245235419902
Pubmed

Fibrillin genes map to regions of conserved mouse/human synteny on mouse chromosomes 2 and 18.

FBN1 FBN2

1.64e-0624528307578
Pubmed

Fibrillins 1 and 2 perform partially overlapping functions during aortic development.

FBN1 FBN2

1.64e-06245216407178
Pubmed

Fibrillin assembly: dimer formation mediated by amino-terminal sequences.

FBN1 FBN2

1.64e-06245210504303
Pubmed

Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes.

FBN1 FBN2

1.64e-0624521852206
Pubmed

N-terminal domains of fibrillin 1 and fibrillin 2 direct the formation of homodimers: a possible first step in microfibril assembly.

FBN1 FBN2

1.64e-06245210359653
Pubmed

Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils.

FBN1 FBN2

1.64e-0624527744963
Pubmed

Fibrillin microfibrils in bone physiology.

FBN1 FBN2

1.64e-06245226408953
Pubmed

Arg-Gly-Asp-containing domains of fibrillins-1 and -2 distinctly regulate lung fibroblast migration.

FBN1 FBN2

1.64e-06245218006876
Pubmed

Interaction of tropoelastin with the amino-terminal domains of fibrillin-1 and fibrillin-2 suggests a role for the fibrillins in elastic fiber assembly.

FBN1 FBN2

4.91e-06345210825173
Pubmed

Adamts10 inactivation in mice leads to persistence of ocular microfibrils subsequent to reduced fibrillin-2 cleavage.

FBN1 FBN2

4.91e-06345230201140
Pubmed

Coding region intron/exon organization, alternative splicing, and X-chromosome inactivation of the KRAB/FPB-domain-containing human zinc finger gene ZNF41.

ZNF223 ZNF41

4.91e-06345210449920
Pubmed

Fibrillin-1 and -2 differentially modulate endogenous TGF-β and BMP bioavailability during bone formation.

FBN1 FBN2

4.91e-06345220855508
Pubmed

Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein.

FBN1 FBN2

9.81e-06445212429738
Pubmed

Human eye development is characterized by coordinated expression of fibrillin isoforms.

FBN1 FBN2

9.81e-06445225406291
Pubmed

Extracellular microfibrils control osteoblast-supported osteoclastogenesis by restricting TGF{beta} stimulation of RANKL production.

FBN1 FBN2

9.81e-06445220729550
Pubmed

Heparin/heparan sulfate controls fibrillin-1, -2 and -3 self-interactions in microfibril assembly.

FBN1 FBN2

9.81e-06445225034023
Pubmed

Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.

FBN1 FBN2

9.81e-06445216835936
Pubmed

Characterization of Microfibrillar-associated Protein 4 (MFAP4) as a Tropoelastin- and Fibrillin-binding Protein Involved in Elastic Fiber Formation.

FBN1 FBN2

1.63e-05545226601954
Pubmed

Fibrillin-1 interactions with fibulins depend on the first hybrid domain and provide an adaptor function to tropoelastin.

FBN1 FBN2

1.63e-05545217255108
Pubmed

POGLUT2 and POGLUT3 O-glucosylate multiple EGF repeats in fibrillin-1, -2, and LTBP1 and promote secretion of fibrillin-1.

FBN1 FBN2

1.63e-05545234411563
Pubmed

Relaxin regulates fibrillin 2, but not fibrillin 1, mRNA and protein expression by human dermal fibroblasts and murine fetal skin.

FBN1 FBN2

1.63e-05545212590922
Pubmed

Development, composition, and structural arrangements of the ciliary zonule of the mouse.

FBN1 FBN2

1.63e-05545223493297
Pubmed

Of mice and Marfan: genetic linkage analyses of the fibrillin genes, Fbn1 and Fbn2, in the mouse genome.

FBN1 FBN2

2.45e-0564527873879
Pubmed

Regulation of limb patterning by extracellular microfibrils.

FBN1 FBN2

3.42e-05745211470817
Pubmed

Putative functions of extracellular matrix glycoproteins in secondary palate morphogenesis.

FBN1 FBN2

4.56e-05845223055981
Pubmed

Adamts17 is involved in skeletogenesis through modulation of BMP-Smad1/5/8 pathway.

FBN1 FBN2

4.56e-05845231201465
Pubmed

Targeting of bone morphogenetic protein growth factor complexes to fibrillin.

FBN1 FBN2

4.56e-05845218339631
Pubmed

Microfibril-associated glycoprotein-2 interacts with fibrillin-1 and fibrillin-2 suggesting a role for MAGP-2 in elastic fiber assembly.

FBN1 FBN2

5.86e-05945212122015
Pubmed

Poglut2/3 double knockout in mice results in neonatal lethality with reduced levels of fibrillin in lung tissues.

FBN1 FBN2

5.86e-05945238844137
Pubmed

Limb- and tendon-specific Adamtsl2 deletion identifies a role for ADAMTSL2 in tendon growth in a mouse model for geleophysic dysplasia.

FBN1 FBN2

7.32e-051045230738849
Pubmed

The human ATP-binding cassette (ABC) transporter superfamily.

ABCC11 ABCA5

7.32e-051045211435397
Pubmed

Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation.

FBN1 FBN2

1.07e-041245226405179
Pubmed

A distinct transcriptome characterizes neural crest-derived cells at the migratory wavefront during enteric nervous system development.

FBN1 FBN2

1.07e-041245236779913
Pubmed

Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome.

PLK3 PAQR7

1.27e-041345221574244
Pubmed

Fv2 encodes a truncated form of the Stk receptor tyrosine kinase.

USP4 MST1L

1.27e-041345210508511
Pubmed

A Role for Mitochondrial Translation in Promotion of Viability in K-Ras Mutant Cells.

USP4 TMC1 NUP37 POLR2B BMS1

2.04e-0441945528700943
Pubmed

MEF2C regulates cortical inhibitory and excitatory synapses and behaviors relevant to neurodevelopmental disorders.

PCDH10 PCDH17

2.20e-041745227779093
Pubmed

Proteolysis of fibrillin-2 microfibrils is essential for normal skeletal development.

FBN1 FBN2

2.47e-041845235503090
Pubmed

ADAMTS18-fibronectin interaction regulates the morphology of liver sinusoidal endothelial cells.

FBN1 FBN2

2.47e-041845239040056
Pubmed

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

ABCA4 ABCA5

3.72e-04224528894702
Pubmed

Adamts18 modulates the development of the aortic arch and common carotid artery.

FBN1 FBN2

5.22e-042645234189436
Pubmed

ADAMTS18 Deficiency Leads to Pulmonary Hypoplasia and Bronchial Microfibril Accumulation.

FBN1 FBN2

6.96e-043045232882513
Pubmed

Heritable Thoracic Aortic Disease Overview

FBN1 FBN2

6.96e-043045220301299
Pubmed

Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia--a novel mouse model providing insights into geleophysic dysplasia.

FBN1 FBN2

7.43e-043145225762570
Pubmed

Comparative maps of human 19p13.3 and mouse chromosome 10 allow identification of sequences at evolutionary breakpoints.

SIRT6 MATK

9.48e-043545210984455
Pubmed

Context-specific function of the LIM homeobox 1 transcription factor in head formation of the mouse embryo.

PCDH10 PCDH17

9.48e-043545225977363
Pubmed

O-fucosylation of thrombospondin type 1 repeats is essential for ECM remodeling and signaling during bone development.

FBN1 FBN2

1.00e-033645235167946
Pubmed

Adamts18 Deficiency Causes Spontaneous SMG Fibrogenesis in Adult Mice.

FBN1 FBN2

1.06e-033745234323105
Pubmed

The von Hippel-Lindau Cullin-RING E3 ubiquitin ligase regulates APOBEC3 cytidine deaminases.

TNRC6B POLR2B

1.24e-034045234004371
Pubmed

Fibrillin-2 is a key mediator of smooth muscle extracellular matrix homeostasis during mouse tracheal tubulogenesis.

FBN1 FBN2

1.24e-034045230578393
GeneFamilyNon-clustered protocadherins

PCDH10 PCDH17

1.62e-041229221
GeneFamilyATP binding cassette subfamily A

ABCA4 ABCA5

2.23e-0414292805
ToppCellfacs-Thymus-Thymus_Epithelium-18m-Lymphocytic|Thymus / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

OBSCN GRIK3 ABCA4 FBN2 PCDH10

1.16e-06184455ea7a7e2bac46d4d2c31a5d576b38a032b5335062
ToppCellfacs-Thymus-Thymus_Epithelium-18m-Lymphocytic-thymocyte|Thymus / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

OBSCN GRIK3 ABCA4 FBN2 PCDH10

1.16e-061844552cbed6462fea2622871bb7e49b0df3d984239281
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

OBSCN GRIK3 ABCA4 FBN2 PCDH10

1.16e-061844552b19a8c5f823e00812908b23e66bb4e563278aff
ToppCellfacs-Liver-Non-hepatocytes-3m-Endothelial-nan|Liver / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

MRC1 FBN2 MUC4 CEMIP

1.81e-051554548fdda4e3657ac56188ae88ed3caf145f4d9d1567
ToppCellfacs-Lung-Endomucin-24m-Lymphocytic-Natural_Killer_T_cell|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

AGXT2 FBN2 HAO2 CEMIP

2.00e-051594547619d0d49738dd08daf01b42664691a5323aa793
ToppCellfacs-Lung-Endomucin-24m-Lymphocytic-mature_NK_T_cell|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

AGXT2 FBN2 HAO2 CEMIP

2.00e-051594544000ed0d3b7d488722bcd0042fa2ff4405aaab82
ToppCellfacs-Lung-24m-Hematologic-lymphocytic-mature_NK_T_cell|24m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

AGXT2 FBN2 HAO2 CEMIP

2.37e-051664545e3b998d740b24f790fad37350d704ca0ea10b77
ToppCellfacs-Lung-24m-Hematologic-lymphocytic-mature_NK_T_cell-mature_NK_T_cell_l22|24m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

AGXT2 FBN2 HAO2 CEMIP

2.37e-05166454bcdaab49bde5beba750b76fdcc3781a3c12c4fff
ToppCelldroplet-Fat-Scat-21m-Mesenchymal-nan|Fat / Fat_BAT_GAT_MAT_SCAT - method, tissue, subtissue, age, lineage, cell ontology and free annotation

OBSCN GRIK3 FBN2 PCDH10

3.11e-051784545fc9f41609735b972a2cd0830182d13742cd5bf5
ToppCell10x5'v1-week_17-19-Myeloid_macrophage-stroma-monocytoid_macrophage|week_17-19 / cell types per 3 fetal stages;per 3',per 5'

MRC1 FCGBP PRSS36 GPR179

3.25e-05180454ba4c1fb55e8f1095bea6968417fefcf5f700926b
ToppCellChildren_(3_yrs)-Immune-enucleated_erythrocyte-D032|Children_(3_yrs) / Lineage, Cell type, age group and donor

FAXC OAS3 FAM83F PCDH17

3.39e-051824543fddadb2ff75013ec6eeb415872667a6bae1da2d
Diseaseconnective tissue disease (implicated_via_orthology)

FBN1 FBN2

6.51e-063442DOID:65 (implicated_via_orthology)
Diseasescoliosis (is_implicated_in)

FBN1 FBN2

1.30e-054442DOID:0060249 (is_implicated_in)
DiseaseColorectal Carcinoma

OBSCN GRIK3 ABCA4 FBN2 ABCA5 EPHA1

5.80e-04702446C0009402
DiseaseEndogenous Hyperinsulinism

MRC1 FBN1

6.90e-0426442C1257963
DiseaseExogenous Hyperinsulinism

MRC1 FBN1

6.90e-0426442C1257964
DiseaseCompensatory Hyperinsulinemia

MRC1 FBN1

6.90e-0426442C1257965
DiseaseColorectal Neoplasms

ABCA4 FBN2 ABCA5 EPHA1

7.68e-04277444C0009404
DiseaseCleft palate, cleft lip

FAXC DEPDC5 ABCA4 CEMIP

7.89e-04279444EFO_0003959, HP_0000175
DiseaseHyperinsulinism

MRC1 FBN1

8.01e-0428442C0020459
DiseaseUterine leiomyoma, breast carcinoma

TNRC6B FAM83F

1.05e-0332442EFO_0000305, HP_0000131
Diseaseascending aortic diameter

TNRC6B FBN1 FBN2

1.20e-03140443EFO_0021787

Protein segments in the cluster

PeptideGeneStartEntry
PTAGMDPCSRHIVWN

ABCA5

641

Q8WWZ7
TMCPDVFRGPWGGSH

AGXT2

226

Q9BYV1
PSGAPRMHCSPDGEW

EPHA1

241

P21709
RMHCSPDGEWLVPVG

EPHA1

246

P21709
SFFEREHPGWVPGVC

ABCA4

916

P78363
MHCGAAFWGPITPQG

BMS1

976

Q14692
WFIFHHVPTGPSVGM

CEMIP

696

Q8WUJ3
VLGHSDRCWMPQFPA

PCDH17

946

O14917
GSRHPPWARGCGMFT

SLC2A12

26

Q8TD20
RWMHTFPVGPSGEAI

DEPDC5

616

O75140
MHWGVGFASSRPCVV

FAXC

1

Q5TGI0
PAWMFGDPHITTLDG

MUC4

4681

Q99102
STFMPERWFPGSCHV

PAQR7

256

Q86WK9
GHVFTIEPMICEGGW

METAP1

321

P53582
GPVHVLMSSCWEAEP

MATK

451

P42679
LDHMGCRPGEVCPWE

GPR179

1791

Q6PRD1
DSHGPWCYTMDPRTP

MST1L

441

Q2TV78
FMGCQEHVEPGPRWP

MMP15

556

P51511
LCGEWPTMPHTIGCE

PEX2

246

P28328
EAPLHMEGTSCPQGW

ABCC11

1121

Q96J66
FFNHGECTRVMWTPP

DPY19L1

196

Q2PZI1
SPGMSVCWHPEETFK

NUP37

166

Q8NFH4
ALGHSDRCWMPSFVP

PCDH10

946

Q9P2E7
DCVVTGQPMPSVRWF

OBSCN

5146

Q5VST9
WEAQVMVPGSRPCHG

PRSS36

336

Q5K4E3
GGHVEPWRTETFCPM

FCGBP

1516

Q9Y6R7
ATVGRAWGHPCEMCP

FBN1

211

P35555
APAWHHFPPRCVDMG

AXIN1

441

O15169
ATIGRAWGHPCEMCP

FBN2

241

P35556
VCAFWIPDSRGMPHV

GRIK3

21

Q13003
FLVGPDGVPVMHWFH

GPX6

186

P59796
HPCFLRGMGDPVQSW

OAS3

326

Q9Y6K5
FTHWNSDMPGRKPGC

MRC1

586

P22897
APTGFHCLVWPDGEM

HAO2

76

Q9NYQ3
WGMVCPAETPEGHAV

POLR2B

506

P30876
IPDFRGPHGVWTMEE

SIRT6

61

Q8N6T7
SGCRHPPGEMMRWAA

FAM83F

331

Q8NEG4
PRGPCWETMVGQEFV

TMC1

511

Q8TDI8
GHGPEADVWSLGCVM

PLK3

236

Q9H4B4
TTMETLGEHDPWYCP

USP4

786

Q13107
MKTFPEAGPHEGWSC

ZNF223

86

Q9UK11
PWIMGGEFPCQHSPE

RBAK

66

Q9NYW8
LHSFCTPGMGPRTFW

TEDC1

246

Q86SX3
GPWMLEGEAPHQSCS

ZNF41

126

P51814
GPWEMVLVVHGFPSS

SLX1A

61

Q9BQ83
SLWGVPTVEDPHRMG

TNRC6B

1801

Q9UPQ9