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  2. RHBDD2 - rhomboid domain containing 2 Gene

RHBDD2 - rhomboid domain containing 2 Gene

中文名称:含菱形结构域 2

种属: Homo sapiens

同用名: NPD007; RHBDL7

基因 ID: 57414 | 基因类型: protein coding

关于 RHBDD2

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:75,879,034-75,888,926 (from NCBI)

This gene has 9 transcripts (splice variants), 190 orthologues and 2 paralogues. Ubiquitous expression in brain (RPKM 72.8), adrenal (RPKM 57.9) and 25 other tissues.

功能概要

由该基因编码的蛋白质是菱形膜结合蛋白酶家族的成员,在某些乳腺癌中过度表达。该家族的成员参与膜内蛋白水解。在小鼠中,直系同源蛋白与高尔基体结合。[RefSeq 提供,2016 年 9 月]

The protein encoded by this gene is a member of the rhomboid family of membrane-bound proteases and is overexpressed in some breast cancers. Members of this family are involved in intramembrane proteolysis. In mouse, the orthologous protein associates with the Golgi body. [provided by RefSeq, Sep 2016]

RHBDD2 基因产物(6)

mRNA Protein Name
NM_001040456.3 NP_001035546.1 rhomboid domain-containing protein 2 isoform a
NM_001040457.3 NP_001035547.1 rhomboid domain-containing protein 2 isoform b
NM_001346186.2 NP_001333115.1 rhomboid domain-containing protein 2 isoform b
NM_001346187.2 NP_001333116.1 rhomboid domain-containing protein 2 isoform b
NM_001346188.2 NP_001333117.1 rhomboid domain-containing protein 2 isoform c
NM_001346189.2 NP_001333118.1 rhomboid domain-containing protein 2 isoform d
基因本体论
  • 分子功能
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
32296183 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

RHBDD2 蛋白结构

Rhomboid

Rhomboid: Rhomboid family (56 - 201)

  • 0
  • 100
  • 200
  • 300
  • 364 a.a.
蛋白主名 其他名称

rhomboid domain-containing protein 2

rhomboid, veinlet-like 7

关联疾病

疾病名称 别名
Benign Mammary Dysplasia
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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
Rattus norvegicus RHBDD2 RGD RGD:1308231
Macaca mulatta RHBDD2 VGNC VGNC:76804
Felis catus RHBDD2 VGNC VGNC:64603
Canis familiaris RHBDD2 VGNC VGNC:45544
Mus musculus RHBDD2 MGD MGI:1915612
Bos taurus RHBDD2 VGNC VGNC:33931