2. Gene
  3. NDUFC2 - NADH:ubiquinone oxidoreductase subunit C2 Gene

NDUFC2 - NADH:ubiquinone oxidoreductase subunit C2 Gene

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

中文名称：NADH：泛醌氧化还原酶亚基 C2

种属: Homo sapiens

同用名: HLC-1; B14.5b; MC1DN36; NADHDH2; CI-B14.5b

基因 ID: 4718 | 基因类型: protein coding

关于 NDUFC2

Cytogenetic location: 11q14.1 Genomic coordinates (GRCh38): 11:78,068,297-78,079,862 (from NCBI)

This gene has 5 transcripts (splice variants), 191 orthologues and is associated with 1 phenotype. Ubiquitous expression in thyroid (RPKM 31.9), adrenal (RPKM 29.8) and 25 other tissues.

功能概要

参与线粒体呼吸链复合物 I 的组装。位于线粒体中。线粒体呼吸链复合体 I 的一部分。与核型线粒体复合体 I 缺陷有关。 [由基因组资源联盟提供，2022 年 4 月]

Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial respiratory chain complex I. Implicated in nuclear type mitochondrial complex I deficiency. [provided by Alliance of Genome Resources, Apr 2022]

NDUFC2 基因产物(3)

mRNA Protein Name
NM_001204054.3 NP_001190983.1 NADH dehydrogenase [ubiquinone] 1 subunit C2 isoform 2
NM_001204055.2 NP_001190984.1 NADH dehydrogenase [ubiquinone] 1 subunit C2 isoform 3
NM_004549.6 NP_004540.1 NADH dehydrogenase [ubiquinone] 1 subunit C2 isoform 1
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 protein binding IPI
IPI: 通过物理相互作用推断
32320651 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitochondrial respiratory chain complex I assembly IMP
IMP: 通过突变表型推断
27626371 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial inner membrane IDA
IDA: 通过直接分析推断
28844695 GOA
part of respiratory chain complex I IDA
IDA: 通过直接分析推断
12611891 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

NDUFC2 蛋白结构

NDUF_C2

NDUF_C2: NADH-ubiquinone oxidoreductase subunit b14.5b (NDUFC2) (4 - 119)

  • 0
  • 100
  • 119 a.a.
蛋白主名 其他名称

NADH dehydrogenase [ubiquinone] 1 subunit C2

NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa

NDUFC2 抗体

目录号 产品名 应用 反应物种
HY-P81598 NDUFC2 Antibody (YA1343) WB, IHC-P Human

关联疾病

疾病名称 别名
Mitochondrial Complex I Deficiency, Nuclear Type 36

MC1DN36

Mitochondrial Complex 1 Deficiency, Nuclear Type 36
Mitochondrial Disease

Mitochondrial Diseases

Mitochondrial Disorder
Nuclear Type Mitochondrial Complex I Deficiency

Mc1dn

Mitochondrial Complex I Deficiency, Nuclear Type

Mitochondrial Complex I Deficiency, Nuclear
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 Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of
Leukodystrophy

Leukodystrophies
Myopathy

Muscular Diseases

Myopathies
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-RS09156 NDUFC2 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS21897 Ndufc2 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS28414 Ndufc2 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus NDUFC2 RGD RGD:1307511
Mus musculus NDUFC2 MGD MGI:1344370
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