COL4A2 (collagen type IV alpha 2 chain)

2003-06-01  

Identity

HGNC
LOCATION
13q34
LOCUSID
ALIAS
BSVD2,ICH,POREN2
FUSION GENES

Other Information

Locus ID:

NCBI: 1284
MIM: 120090
HGNC: 2203
Ensembl: ENSG00000134871

Variants:

dbSNP: 1284
ClinVar: 1284
TCGA: ENSG00000134871
COSMIC: COL4A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134871ENST00000360467P08572
ENSG00000134871ENST00000360467A0A024RDW8
ENSG00000134871ENST00000400163A2A352
ENSG00000134871ENST00000480609A0A3B3IS47
ENSG00000134871ENST00000494852A0A3B3IT80
ENSG00000134871ENST00000617564A0A087WY39
ENSG00000134871ENST00000619688A0A3B3IRV2
ENSG00000134871ENST00000649101A0A3B3ITN7
ENSG00000134871ENST00000649951A0A3B3IS04
ENSG00000134871ENST00000650540A0A3B3ITQ8

Expression (GTEx)

0
100
200
300
400
500
600

Pathways

PathwaySourceExternal ID
Focal adhesionKEGGko04510
ECM-receptor interactionKEGGko04512
Small cell lung cancerKEGGko05222
Focal adhesionKEGGhsa04510
ECM-receptor interactionKEGGhsa04512
Pathways in cancerKEGGhsa05200
Small cell lung cancerKEGGhsa05222
AmoebiasisKEGGko05146
AmoebiasisKEGGhsa05146
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
PI3K-Akt signaling pathwayKEGGhsa04151
PI3K-Akt signaling pathwayKEGGko04151
Signal TransductionREACTOMER-HSA-162582
Signaling by PDGFREACTOMER-HSA-186797
Vesicle-mediated transportREACTOMER-HSA-5653656
Binding and Uptake of Ligands by Scavenger ReceptorsREACTOMER-HSA-2173782
Scavenging by Class A ReceptorsREACTOMER-HSA-3000480
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814
Assembly of collagen fibrils and other multimeric structuresREACTOMER-HSA-2022090
Integrin cell surface interactionsREACTOMER-HSA-216083
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
NCAM signaling for neurite out-growthREACTOMER-HSA-375165
NCAM1 interactionsREACTOMER-HSA-419037
AGE-RAGE signaling pathway in diabetic complicationsKEGGko04933
AGE-RAGE signaling pathway in diabetic complicationsKEGGhsa04933
Collagen chain trimerizationREACTOMER-HSA-8948216

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA179GP1BBGenePathwayassociated20938371
PA204ITGA2GenePathwayassociated20938371
PA26212CD36GenePathwayassociated20938371
PA28823GP5GenePathwayassociated20938371
PA28824GP6GenePathwayassociated20938371
PA28825GP9GenePathwayassociated20938371

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
208054532010Molecular anatomy of breast cancer stroma and its prognostic value in estrogen receptor-positive and -negative cancers.81
200677972010High glucose down-regulates miR-29a to increase collagen IV production in HK-2 cells.62
222092472012COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.59
200806502010Inherited genetic variant predisposes to aggressive but not indolent prostate cancer.46
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
206738682010A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM).36
238189512013Genome-wide DNA methylation analysis reveals a potential mechanism for the pathogenesis and development of uterine leiomyomas.30
256532872015Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease.27
204524822010Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes.26

Citation

Dessen P

COL4A2 (collagen type IV alpha 2 chain)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/40125/col4a2