COL5A2 (collagen type V alpha 2 chain)
- symbol:
- COL5A2
- locus group:
- protein-coding gene
- location:
- 2q32.2
- gene_family:
- Collagens
- alias symbol:
- None
- alias name:
- AB collagen
- entrez id:
- 1290
- ensembl gene id:
- ENSG00000204262
- ucsc gene id:
- uc002uqk.4
- refseq accession:
- NM_000393
- hgnc_id:
- HGNC:2210
- approved reserved:
- 2001-06-22
COL5A2基因编码胶原蛋白V型α2链，属于胶原蛋白基因家族。胶原蛋白家族是细胞外基质的主要成分，为组织提供结构支持和机械强度。COL5A2与COL5A1共同形成V型胶原蛋白，这种胶原蛋白在调节I型胶原纤维的直径和排列中起关键作用，尤其在皮肤、肌腱、角膜和骨骼等组织中含量丰富。V型胶原蛋白的异常会影响I型胶原纤维的形成，导致组织脆弱。COL5A2基因突变与埃勒斯-当洛斯综合征（EDS）经典型和关节过度活动型相关，这些疾病表现为皮肤过度伸展、关节活动过度和组织脆弱。突变可能导致胶原蛋白合成减少或结构异常，削弱组织的机械强度。COL5A2过表达可能干扰胶原纤维的正常组装，导致纤维直径不均和组织功能异常；而表达降低会减少V型胶原蛋白的可用性，影响I型胶原纤维的形成，可能导致组织脆弱和EDS样症状。COL5A2在伤口愈合、组织发育和修复中也发挥作用，其表达水平变化可能影响这些过程。该基因与COL5A1、COL5A3同属V型胶原蛋白基因家族，家族成员共同参与形成异源三聚体胶原蛋白分子，在维持组织结构和功能中起协同作用。
This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]
Gene Ontology
Subcellular localization of COL5A2 (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for COL5A2:
| Interacting Gene | Interaction | Source/Score |
| Name |
|---|
| 4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
| 4512 ECM-receptor interaction [PATH:hsa04512] |
| 4510 Focal adhesion [PATH:hsa04510] |
| 4611 Platelet activation [PATH:hsa04611] |
| 4974 Protein digestion and absorption [PATH:hsa04974] |
| 5146 Amoebiasis [PATH:hsa05146] |
| Name |
|---|
| Assembly of collagen fibrils and other multimeric structures |
| Collagen biosynthesis and modifying enzymes |
| Collagen formation |
| Extracellular matrix organization |
| Disease | Score | NofPmids | NofSnps | Source |
| Ehlers-Danlos syndrome type 1 | 0.480271442 | 2 | 4 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
| Ehlers-Danlos syndrome type 2 | 0.120271442 | 1 | 0 | BeFree_ORPHANET |
| Spontaneous abortion | 0.12 | 1 | 0 | CTD_human |
| Premature Birth | 0.009468128 | 4 | 0 | GAD |
| Inflammation | 0.004734064 | 2 | 0 | GAD |
| Vertebral Artery Dissection | 0.00272435 | 1 | 0 | LHGDN |
| Ehlers-Danlos Syndrome | 0.002714419 | 10 | 0 | BeFree |
| Fetal Membranes, Premature Rupture | 0.002367032 | 1 | 0 | GAD |
| Dermatologic disorders | 0.002367032 | 1 | 0 | GAD |
| Premature Obstetric Labor | 0.002367032 | 1 | 0 | GAD |
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