2. Gene
  3. COX4I2 - cytochrome c oxidase subunit 4I2 Gene

COX4I2 - cytochrome c oxidase subunit 4I2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：细胞色素 c 氧化酶亚基 4I2

种属: Homo sapiens

同用名: COX4; COX4B; COX4-2; COX4L2; COXIV-2; dJ857M17.2

基因 ID: 84701 | 基因类型: protein coding

关于 COX4I2

Cytogenetic location: 20q11.21 Genomic coordinates (GRCh38): 20:31,637,912-31,645,006 (from NCBI)

This gene has 2 transcripts (splice variants), 184 orthologues, 1 paralogue and is associated with 2 phenotypes. Biased expression in placenta (RPKM 32.5), lung (RPKM 10.0) and 6 other tissues.

功能概要

细胞色素 c 氧化酶 (COX) 是线粒体呼吸链的末端酶，可催化电子从还原的细胞色素 c 转移到氧气。它是由线粒体基因编码的 3 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传递中起作用，而核编码的亚基可能参与复合物的调控和组装。该核基因编码亚基 IV 的亚型 2。亚基 IV 的亚型 1 由不同的基因编码，然而，这两个基因显示出相似的结构组织。亚基 IV 是最大的核编码亚基，在 COX 调节中起着关键作用。[RefSeq 提供，2008 年 7 月]

Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes isoform 2 of subunit IV. Isoform 1 of subunit IV is encoded by a different gene, however, the two genes show a similar structural organization. Subunit IV is the largest nuclear encoded subunit which plays a pivotal role in COX regulation. [provided by RefSeq, Jul 2008]

COX4I2 基因产物(1)

mRNA Protein Name
NM_032609.3 NP_115998.2 cytochrome c oxidase subunit 4 isoform 2, mitochondrial
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables cytochrome-c oxidase activity IDA
IDA: 通过直接分析推断
11311561 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitochondrial electron transport, cytochrome c to oxygen IDA
IDA: 通过直接分析推断
11311561 GOA
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

COX4I2 蛋白结构

COX4

COX4: Cytochrome c oxidase subunit IV (46 - 170)

  • 0
  • 100
  • 171 a.a.
蛋白主名 其他名称

cytochrome c oxidase subunit 4 isoform 2, mitochondrial

COX IV-2

COX4I2 抗体

目录号 产品名 应用 反应物种
HY-P85423 COX4I2 Antibody (YA5115) WB, FC, ICC/IF Human

关联疾病

疾病名称 别名
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis

Pancreatic Insufficiency-Anemia-Hyperostosis Syndrome

Exocrine Pancreatic Insufficiency Dyserythropoietic Anemia And Calvarial Hyperostosis

EPIDACH
Calvarial Hyperostosis

Isolated Hyperostosis Of The Calvarium

X-Linked Calvarial Hyperostosis
Exocrine Pancreatic Insufficiency
Hyperostosis

Hypertrophy Of Bone

Bone Hypertrophy

Bone Thickening

Periosteum Thickening
Pheochromocytoma

Pheochromocytoma, Susceptibility To

Phaeochromocytoma

Adrenal Gland Chromaffin Paraganglioma

Adrenal Gland Chromaffinoma

Adrenal Gland Paraganglioma

Adrenal Gland Pheochromocytoma

Chromaffin Paraganglioma Of The Adrenal Gland

Intraadrenal Paraganglioma

PCC

Chromaffin Cell Tumor

Medullary Chromaffinoma

Medullary Paraganglioma

Pheochromoblastoma

Pheochromocytomas

Chromaffin Cell Neoplasm

Pheochromocytoma, Malignant
Hermansky-Pudlak Syndrome 1

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

HPS1

Delta Storage Pool Disease

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

Hermansky-Pudlak Syndrome, Type 1

Platelet Storage Pool Deficiency
Leigh Syndrome

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Melas Syndrome

MELAS

Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode

Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes

Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome

Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS03065 COX4I2 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS19057 Cox4i2 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS25547 Cox4i2 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris COX4I2 VGNC VGNC:54289
Felis catus COX4I2 VGNC VGNC:61108
Rattus norvegicus COX4I2 RGD RGD:69422
Bos taurus COX4I2 VGNC VGNC:27635
Mus musculus COX4I2 MGD MGI:2135755
Macaca mulatta COX4I2 VGNC VGNC:107782
Others COX4I2 NCBI
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