1. Gene
  2. COX7A2 - cytochrome c oxidase subunit 7A2 Gene

COX7A2 - cytochrome c oxidase subunit 7A2 Gene

中文名称:细胞色素 c 氧化酶亚基 7A2

种属: Homo sapiens

同用名: VIIAL; COX7AL; COX7AL1; COXVIIAL; COXVIIa-L

基因 ID: 1347 | 基因类型: protein coding

关于 COX7A2

Cytogenetic location: 6q14.1 Genomic coordinates (GRCh38): 6:75,237,675-75,250,298 (from NCBI)

This gene has 9 transcripts (splice variants), 304 orthologues and 2 paralogues. Broad expression in testis (RPKM 131.2), colon (RPKM 111.8) and 25 other tissues.

功能概要

细胞色素 c 氧化酶是线粒体呼吸链的末端组分,催化电子从还原的细胞色素 c 转移到氧气。该成分是由线粒体基因编码的三个催化亚基和核基因编码的多个结构亚基组成的异聚复合物。线粒体编码的亚基在电子转移中起作用,而核编码的亚基可能在复合物的调节和组装中起作用。该核基因编码 VIIa 亚基的多肽 2 (肝脏亚型) ,该多肽存在于肌肉和非肌肉组织中。除了多肽 2 之外,亚基 VIIa 还包括仅存在于肌肉组织中的多肽 1 (肌肉亚型) 和存在于所有组织中的相关蛋白。可变剪接导致多个转录本变体。已在 4 号和 14 号染色体上鉴定出相关的假基因。[RefSeq 提供,2009 年 10 月]

Cytochrome c oxidase, the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of three catalytic subunits encoded by mitochondrial genes, and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, while the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (liver isoform) of subunit VIIa, with this polypeptide being present in both muscle and non-muscle tissues. In addition to polypeptide 2, subunit VIIa includes polypeptide 1 (muscle isoform), which is present only in muscle tissues, and a related protein, which is present in all tissues. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4 and 14. [provided by RefSeq, Oct 2009]

COX7A2 基因产物(3)

mRNA Protein Name
NM_001366292.3 NP_001353221.2 cytochrome c oxidase subunit 7A2, mitochondrial
NM_001366293.2 NP_001353222.1 cytochrome c oxidase subunit 7A2, mitochondrial
NM_001865.6 NP_001856.3 cytochrome c oxidase subunit 7A2, mitochondrial

COX7A2 蛋白结构

COX7a

COX7a: Cytochrome c oxidase subunit VII (25 - 81)

  • 0
  • 83 a.a.
蛋白主名 其他名称

cytochrome c oxidase subunit 7A2, mitochondrial

cytochrome c oxidase polypeptide 7A2, mitochondrial

关联疾病

疾病名称 别名
Barrett'S Adenocarcinoma

Barrett Adenocarcinoma

Adenocarcinoma Arising In Barrett'S Mucosa

Neurodegeneration With Brain Iron Accumulation 4

NBIA4

Mpan

Mitochondrial Protein-Associated Neurodegeneration

Nbia Due To C19orf12 Mutation

Neurodegeneration With Brain Iron Accumulation Due To C19orf12 Mutation

Neurodegeneration With Brain Iron Accumulation Type 4

Mitochondrial Membrane Protein Associated Neurodegeneration

Neurodegeneration, With Brain Iron Accumulation, Type 4

Esophagus Adenocarcinoma

Esophageal Adenocarcinoma

Oesophageal Adenocarcinoma

Adenocarcinoma Of Esophagus

Adenocarcinoma Of The Esophagus

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Mus musculus COX7A2 MGD MGI:1316715
Felis catus COX7A2 VGNC VGNC:102408
Rattus norvegicus COX7A2 RGD RGD:68365
Bos taurus COX7A2 VGNC VGNC:53788