1. Gene
  2. Col2a1 - collagen, type II, alpha 1 Gene

Col2a1 - collagen, type II, alpha 1 Gene

种属: Mus musculus

同用名: Dmm; Lpk; Col2; Del1; Col2a; Col2a-1; M100413; Rgsc413; Rgsc856

基因 ID: 12824 | 基因类型: protein coding

关于 Col2a1

功能概要

This gene encodes the alpha-1 subunit of the fibril-forming type II Collagen, the major component of cartilage and the vitreous humor of the eye. The encoded preproprotein forms homotrimeric, triple helical procollagen that undergoes proteolytic processing during fibirl formation. Mice harboring certain mutations in this gene exhibit severe chondrodysplasia characterized by short limbs and trunch, craniofacial deformities and cleft palate. A complete lack of the encoded protein in mice results in postnatal lethality. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Dec 2015]

Col2a1 基因产物(2)

mRNA Protein Name
NM_001113515.3 NP_001106987.2 collagen alpha-1(II) chain isoform 2 precursor
NM_031163.4 NP_112440.2 collagen alpha-1(II) chain isoform 1 preproprotein
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables identical protein binding IPI
IPI: 通过物理相互作用推断
22248926 MGI
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within anterior head development IMP
IMP: 通过突变表型推断
26234751 MGI
acts upstream of or within bone development IMP
IMP: 通过突变表型推断
11254354 MGI
acts upstream of or within cartilage condensation IMP
IMP: 通过突变表型推断
3070812 MGI
acts upstream of or within cartilage development IMP
IMP: 通过突变表型推断
7276808 MGI
acts upstream of or within cartilage development involved in endochondral bone morphogenesis IMP
IMP: 通过突变表型推断
8989518 MGI
acts upstream of or within cellular response to BMP stimulus IDA
IDA: 通过直接分析推断
20501701 MGI
involved in central nervous system development IEP
IEP: 通过表达模式推断
9119111 MGI
involved in chondrocyte differentiation IEP
IEP: 通过表达模式推断
9119111 MGI
acts upstream of or within chondrocyte differentiation IMP
IMP: 通过突变表型推断
7590256 MGI
acts upstream of or within collagen fibril organization IMP
IMP: 通过突变表型推断
3070812 MGI
acts upstream of or within endochondral ossification IMP
IMP: 通过突变表型推断
10100048 MGI
acts upstream of extrinsic apoptotic signaling pathway in absence of ligand IMP
IMP: 通过突变表型推断
9299161 MGI
acts upstream of or within heart morphogenesis IMP
IMP: 通过突变表型推断
7590256 MGI
acts upstream of or within inner ear development IMP
IMP: 通过突变表型推断
10100048 MGI
acts upstream of or within inner ear morphogenesis IMP
IMP: 通过突变表型推断
9165353 MGI
involved in limb bud formation IEP
IEP: 通过表达模式推断
20940257 MGI
acts upstream of or within limb morphogenesis IMP
IMP: 通过突变表型推断
10100048 MGI
acts upstream of or within negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IMP
IMP: 通过突变表型推断
9299161 MGI
involved in notochord development IEP
IEP: 通过表达模式推断
9119111 MGI
involved in ossification IEP
IEP: 通过表达模式推断
9119111 MGI
involved in otic vesicle development IEP
IEP: 通过表达模式推断
9119111 MGI
acts upstream of or within proteoglycan metabolic process IMP
IMP: 通过突变表型推断
3070812 MGI
acts upstream of or within regulation of gene expression IMP
IMP: 通过突变表型推断
9299161 MGI
acts upstream of or within roof of mouth development IMP
IMP: 通过突变表型推断
7276808 MGI
acts upstream of or within skeletal system morphogenesis IMP
IMP: 通过突变表型推断
7276808 MGI
acts upstream of or within tissue homeostasis IMP
IMP: 通过突变表型推断
11237662 MGI
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in basement membrane IDA
IDA: 通过直接分析推断
11273670 MGI
part of collagen trimer IDA
IDA: 通过直接分析推断
17683922 MGI
part of collagen type II trimer IDA
IDA: 通过直接分析推断
9880238 MGI
part of collagen type II trimer IMP
IMP: 通过突变表型推断
7276808 MGI
located in cytoplasm IDA
IDA: 通过直接分析推断
12799063 MGI
located in extracellular matrix IDA
IDA: 通过直接分析推断
1879364 MGI
located in extracellular space IDA
IDA: 通过直接分析推断
12799063 MGI
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断
蛋白主名 其他名称

collagen alpha-1(II) chain

alpha-1 type II collagen

chondrocalcin

procollagen, type II, alpha 1

Col2a1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
Col2a1 P28481 Col2a1 Mus musculus P28481 22248926
种属间: 跨种属相互作用 种属内: 同种属相互作用

直系同源

种属 基因名 来源 基因 ID
Homo sapiens Col2a1 NCBI NCBI:1280