AutismKB 2.0

Annotation Details for COL2A1


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Basic Information Top
Gene Symbol:COL2A1 ( ANFH,AOM,COL11A3,MGC131516,SEDC )
Gene Full Name: collagen, type II, alpha 1
Band: 12q13.11
Quick LinksEntrez ID:1280; OMIM: 120140; Uniprot ID:CO2A1_HUMAN; ENSEMBL ID: ENSG00000139219; HGNC ID: 2200
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576TAS-extracellular region-
GO:0005585IDA-collagen type II trimer8660302
GO:0005604IEA-basement membrane-
GO:0005615IEA-extracellular space-
GO:0005788TAS-endoplasmic reticulum lumen-
GO:0031012IDA-extracellular matrix23658023
GO ID Evidence Qualifier GO_term References
GO:0030020IC-extracellular matrix structural constituent conferring tensile strength8660302
GO:0042289IPI-MHC class II protein binding9354468
GO:0042802NAS-identical protein binding2587267
GO:0046872IEA-metal ion binding-
GO:0048407IDA-platelet-derived growth factor binding8900172
GO ID Evidence Qualifier GO_term References
GO:0001501IMP-skeletal system development1429602
GO:0001502IEA-cartilage condensation-
GO:0001894IEA-tissue homeostasis-
GO:0001958IEA-endochondral ossification-
GO:0002062IEA-chondrocyte differentiation-
GO:0003007IEA-heart morphogenesis-
GO:0006029IEA-proteoglycan metabolic process-
GO:0007417IEA-central nervous system development-
GO:0007601IMP-visual perception10486316
GO:0007605IMP-sensory perception of sound16752401
GO:0010468IEA-regulation of gene expression-
GO:0030198TAS-extracellular matrix organization-
GO:0030199IMP-collagen fibril organization1429602
GO:0030574TAS-collagen catabolic process-
GO:0030903IEA-notochord development-
GO:0042472IEA-inner ear morphogenesis-
GO:0050776TAS-regulation of immune response-
GO:0051216TAS-cartilage development7550321
GO:0060021IEA-palate development-
GO:0060174IEA-limb bud formation-
GO:0060272IMP-embryonic skeletal joint morphogenesis16752401
GO:0060351IEA-cartilage development involved in endochondral bone morphogenesis-
GO:0071599IEA-otic vesicle development-
GO:0071773IEA-cellular response to BMP stimulus-
GO:2001240IEA-negative regulation of extrinsic apoptotic signaling pathway in absence of ligand-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
COL2A1ANXA51068051397263 Reconstituted Complex
COL2A1ANXA51076771397263 Reconstituted Complex
COL2A1BMP210711810085302 Affinity Capture-Western; Reconstituted Complex
COL2A1BMP210767710085302 Affinity Capture-Western; Reconstituted Complex
MAGCOL2A11102732446864 Reconstituted Complex
MAGCOL2A11076772446864 Reconstituted Complex
THBS1COL2A11129153571333 Reconstituted Complex
THBS1COL2A11076773571333 Reconstituted Complex
ITGA2BCOL2A11076777520045 Reconstituted Complex
ITGA2BCOL2A11098817520045 Reconstituted Complex
TGFB1COL2A110767710085302 Reconstituted Complex
TGFB1COL2A111289810085302 Reconstituted Complex
PKD1COL2A111132711406351 Reconstituted Complex
PKD1COL2A110767711406351 Reconstituted Complex
COL9A1COL2A110769411724554 Reconstituted Complex
COL9A1COL2A110767711724554 Reconstituted Complex
PRELPCOL2A111154011847210 Reconstituted Complex
PRELPCOL2A110767711847210 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:88452
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-050302-9'