AutismKB 2.0

Annotation Details for COL1A2


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Basic Information Top
Gene Symbol:COL1A2 ( OI4 )
Gene Full Name: collagen, type I, alpha 2
Band: 7q21.3
Quick LinksEntrez ID:1278; OMIM: 120160; Uniprot ID:CO1A2_HUMAN; ENSEMBL ID: ENSG00000164692; HGNC ID: 2198
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576TAS-extracellular region-
GO:0005584IDA-collagen type I trimer18375391
GO:0005584IMP-collagen type I trimer17955022
GO:0005584TAS-collagen type I trimer6267597
GO:0005615IDA-extracellular space18375391
GO:0005783IDA-endoplasmic reticulum-
GO:0005788TAS-endoplasmic reticulum lumen-
GO:0031012IDA-extracellular matrix23658023
GO:0031012IDAcolocalizes_withextracellular matrix20551380
GO:0070062IDA-extracellular exosome21362503
GO ID Evidence Qualifier GO_term References
GO:0002020IPI-protease binding19932771
GO:0005201NAS-extracellular matrix structural constituent8982144
GO:0005515IPI-protein binding18375391
GO:0030674IMP-protein binding, bridging18375391
GO:0042802IDA-identical protein binding17211858
GO:0046332IEA-SMAD binding-
GO:0046872IEA-metal ion binding-
GO:0048407IDA-platelet-derived growth factor binding8900172
GO ID Evidence Qualifier GO_term References
GO:0001501IMP-skeletal system development8841196
GO:0001568IMP-blood vessel development17211858
GO:0007179IDA-transforming growth factor beta receptor signaling pathway17217948
GO:0007266IDA-Rho protein signal transduction17217948
GO:0007596TAS-blood coagulation-
GO:0008217IMP-regulation of blood pressure17334644
GO:0030168TAS-platelet activation-
GO:0030198TAS-extracellular matrix organization-
GO:0030199IMP-collagen fibril organization17211858
GO:0030574TAS-collagen catabolic process-
GO:0042476NAS-odontogenesis1740554
GO:0043589IMP-skin morphogenesis17211858
GO:0050776TAS-regulation of immune response-
GO:0050900TAS-leukocyte migration-
GO:0070208IEA-protein heterotrimerization-
GO:0071230IEA-cellular response to amino acid stimulus-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:88468
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-030131-8415'