COL5A2 (collagen type V alpha 2 chain)

2018-07-01  

Identity

HGNC
COL5A2
LOCATION
2q32.2
LOCUSID
1290
ALIAS
EDSC,EDSCL2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1290
MIM: 120190
HGNC: 2210
Ensembl: ENSG00000204262

Variants:

dbSNP: 1290
ClinVar: 1290
TCGA: ENSG00000204262
COSMIC: COL5A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204262ENST00000374866P05997
ENSG00000204262ENST00000618828A0A087WYX9
ENSG00000204262ENST00000649966A0A3B3IRH9

Expression (GTEx)

0
50
100
150
200
250
300
350
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
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
Collagen chain trimerizationREACTOMER-HSA-8948216

References

Pubmed IDYearTitleCitations
370829972023Collagen type V alpha 2 promotes the development of gastric cancer via M2 macrophage polarization.2
370829972023Collagen type V alpha 2 promotes the development of gastric cancer via M2 macrophage polarization.2
347664722022lncRNA BZRAP1-AS1 alleviates rheumatoid arthritis by regulating miR-1286/COL5A2 axis.2
359649302022Phenotype of COL3A1/COL5A2 deletion patients.4
347664722022lncRNA BZRAP1-AS1 alleviates rheumatoid arthritis by regulating miR-1286/COL5A2 axis.2
359649302022Phenotype of COL3A1/COL5A2 deletion patients.4
336077862021COL5A2 as a potential clinical biomarker for gastric cancer and renal metastasis.24
337393922021High expression of COL5A2, a member of COL5 family, indicates the poor survival and facilitates cell migration in gastric cancer.20
339746362021Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1.7
336077862021COL5A2 as a potential clinical biomarker for gastric cancer and renal metastasis.24
337393922021High expression of COL5A2, a member of COL5 family, indicates the poor survival and facilitates cell migration in gastric cancer.20
339746362021Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1.7
320224462020Foxf2 and Smad6 co-regulation of collagen 5A2 transcription is involved in the pathogenesis of intrauterine adhesion.15
324672962020Arterial complications in classical Ehlers-Danlos syndrome: a case series.3
320224462020Foxf2 and Smad6 co-regulation of collagen 5A2 transcription is involved in the pathogenesis of intrauterine adhesion.15

Citation

Dessen P

COL5A2 (collagen type V alpha 2 chain)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57558