COL3A1
protein-coding gene in the species Homo sapiens
Facts
16 properties- Instance of
- gene
- Subclass of
- protein-coding gene
- Chromosome
- human chromosome 2[11]
- Cytogenetic location
- 2q32.2[30]
- Expressed in
- skin of hip, parietal pleura, visceral pleura, tendon of biceps brachii, periodontal fiber, cartilage tissue, stromal cell of endometrium, skin of thigh, skin of arm, saphenous vein[31][32][33][34][35][36][37][38][39][40]
- Found in taxon
- Homo sapiens[10]
- Gene deletion association with
- Bilateral frontoparietal polymicrogyria[23]
- Gene substitution association with
- Bilateral frontoparietal polymicrogyria[24]
- Genetic association
- autosomal dominant type IV Ehlers-Danlos syndrome, Ehlers-Danlos syndrome, vascular-like type, Bilateral frontoparietal polymicrogyria, Peyronie's disease[25][26][27][28]
- HomoloGene ID
- 55433[3]
- Increased expression in
- systemic scleroderma, diabetic nephropathy, collagen type III glomerulopathy, chronic obstructive pulmonary disease, idiopathic pulmonary fibrosis, Dupuytren's contracture, Peyronie's disease, osteoarthritis, glioma, bladder cancer, breast cancer[12][13][14][15][16][17][18][19][20][21][22]
- Strand orientation
- forward strand[29]
🏷️ Also known as
en COL3A1
en collagen type III alpha 1
en collagen type III alpha 1 chain
en EDS4A
en EDSVASC
en PMGEDSV
fa کلاژن نوع ۳، آلفا ۱
zh 3型膠原
zh-hans Ⅲ型胶原α1
zh-hant Ⅲ型膠原α1
🔖 Identifiers · 11
- Image (Wikimedia Commons)
- Protein COL3A1 PDB 2V53.png ↗
- Ensembl gene ID
- ENSG00000168542
- Ensembl transcript ID
- ENST00000487010, ENST00000304636, ENST00000317840, ENST00000450867, ENST00000467886, ENST00000470167
- Entrez Gene ID
- 1281
- Exact match
- identifiers.org
- HGNC ID
- 2201
- HGNC gene symbol
- COL3A1
- OMIM ID
- 120180
- Quora topic ID
- COL3A1
- RefSeq RNA ID
- NM_000090, NM_001376916
- UMLS CUI
- C1413581
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