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  2. CYB5R2 - cytochrome b5 reductase 2 Gene

CYB5R2 - cytochrome b5 reductase 2 Gene

中文名称:细胞色素 b5 还原酶 2

种属: Homo sapiens

同用名: B5R.2

基因 ID: 51700 | 基因类型: protein coding

关于 CYB5R2

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:7,665,095-7,674,267 (from NCBI)

This gene has 14 transcripts (splice variants), 184 orthologues and 5 paralogues. Biased expression in testis (RPKM 34.1), skin (RPKM 7.5) and 8 other tissues.

功能概要

该基因编码的蛋白质属于黄素蛋白吡啶核苷酸细胞色素还原酶蛋白质家族。细胞色素 b 型 NAD (P) H 氧化还原酶涉及许多过程,包括胆固醇生物合成、脂肪酸去饱和和延长以及中性粒细胞和巨噬细胞的呼吸爆发。细胞色素 b5 还原酶具有可溶性和膜结合形式,是选择性剪接的产物。在动物细胞中,膜结合形式与内质网结合,在那里它是脂肪酸去饱和复合物的成员。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 11 月]

The protein encoded by this gene belongs to the flavoprotein pyridine nucleotide cytochrome reductase family of proteins. Cytochrome b-type NAD(P)H oxidoreductases are implicated in many processes including Cholesterol biosynthesis, fatty acid desaturation and elongation, and respiratory burst in neutrophils and macrophages. Cytochrome b5 reductases have soluble and membrane-bound forms that are the product of alternative splicing. In animal cells, the membrane-bound form binds to the endoplasmic reticulum, where it is a member of a fatty acid desaturation complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

CYB5R2 基因产物(3)

mRNA Protein Name
NM_001302826.2 NP_001289755.1 NADH-cytochrome b5 reductase 2 isoform 1
NM_001302827.1 NP_001289756.1 NADH-cytochrome b5 reductase 2 isoform 2
NM_016229.5 NP_057313.2 NADH-cytochrome b5 reductase 2 isoform 1
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables cytochrome-b5 reductase activity, acting on NAD(P)H IDA
IDA: 通过直接分析推断
10611283 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in membrane IDA
IDA: 通过直接分析推断
10611283 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

CYB5R2 蛋白结构

FAD_binding_6

FAD_binding_6: Oxidoreductase FAD-binding domain (20 - 126)

NAD_binding_1

NAD_binding_1: Oxidoreductase NAD-binding domain (152 - 259)

  • 0
  • 100
  • 200
  • 276 a.a.
蛋白主名 其他名称

NADH-cytochrome b5 reductase 2

cytochrome b5 reductase b5R.2

CYB5R2 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
Intra CYB5R2 Q6BCY4 TRAF2 Homo sapiens Q12933
Y2H Prey Pooling
25416956
Intra CYB5R2 Q6BCY4 TRIP13 Homo sapiens Q15645
Y2H Prey Pooling
25416956
Intra CYB5R2 Q6BCY4 TRAF1 Homo sapiens Q13077
Y2H Array
25416956
Intra CYB5R2 Q6BCY4 TRAF1 Homo sapiens Q13077
Y2H Prey Pooling
25416956
Intra CYB5R2 Q6BCY4 CDC23 Homo sapiens Q9UJX2
Y2H Prey Pooling
25416956
Intra CYB5R2 Q6BCY4 GOLGA2 Homo sapiens Q08379
Validated Y2H
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Methemoglobinemia
Hemoglobinopathy

Hemoglobinopathies

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
Canis familiaris CYB5R2 VGNC VGNC:50282
Rattus norvegicus CYB5R2 RGD RGD:1308421
Felis catus CYB5R2 VGNC VGNC:61310
Bos taurus CYB5R2 VGNC VGNC:50263
Mus musculus CYB5R2 MGD MGI:2444415
Macaca mulatta CYB5R2 VGNC VGNC:71519