1. Gene
  2. RGS12 - regulator of G protein signaling 12 Gene

RGS12 - regulator of G protein signaling 12 Gene

中文名称:G 蛋白信号调节器 12

种属: Homo sapiens

基因 ID: 6002 | 基因类型: protein coding

关于 RGS12

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:3,285,891-3,439,913 (from NCBI)

This gene has 26 transcripts (splice variants), 142 orthologues and 23 paralogues. Ubiquitous expression in skin (RPKM 3.7), brain (RPKM 3.2) and 24 other tissues.

功能概要

该基因编码“G 蛋白信号调节器” (RGS) 基因家族的成员。编码的蛋白质可以作为鸟苷三磷酸酶 (GTPase) 激活蛋白和转录抑制因子发挥作用。这种蛋白质可能在肿瘤发生中起作用。已经为该基因鉴定了编码不同亚型的多个转录物变体。已经描述了其他可变剪接变体,但尚未确定它们的生物学性质。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the 'regulator of G protein signaling' (RGS) gene family. The encoded protein may function as a guanosine triphosphatase (GTPase)-activating protein as well as a transcriptional repressor. This protein may play a role in tumorigenesis. Multiple transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]

RGS12 基因产物(12)

mRNA Protein Name
NM_001394154.1 NP_001381083.1 regulator of G-protein signaling 12 isoform 1
NM_001394155.1 NP_001381084.1 regulator of G-protein signaling 12 isoform 1
NM_001394156.1 NP_001381085.1 regulator of G-protein signaling 12 isoform 2
NM_001394157.1 NP_001381086.1 regulator of G-protein signaling 12 isoform 4
NM_001394158.1 NP_001381087.1 regulator of G-protein signaling 12 isoform 5
NM_001394159.1 NP_001381088.1 regulator of G-protein signaling 12 isoform 6
NM_001394161.1 NP_001381090.1 regulator of G-protein signaling 12 isoform 7
NM_001394162.1 NP_001381091.1 regulator of G-protein signaling 12 isoform 7
NM_001394163.1 NP_001381092.1 regulator of G-protein signaling 12 isoform 7
NM_002926.5 NP_002917.1 regulator of G-protein signaling 12 isoform 2
NM_198227.2 NP_937870.1 regulator of G-protein signaling 12 isoform 3
NM_198229.3 NP_937872.1 regulator of G-protein signaling 12 isoform 1
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 GTPase regulator activity IDA
IDA: 通过直接分析推断
9651375 GOA
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

RGS12 蛋白结构

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (24 - 95)

RGS

RGS: Regulator of G protein signaling domain (715 - 831)

RBD

RBD: Raf-like Ras-binding domain (962 - 1032)

RBD

RBD: Raf-like Ras-binding domain (1035 - 1104)

GoLoco

GoLoco: GoLoco motif (1188 - 1209)

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  • 1376 a.a.
蛋白主名 其他名称

regulator of G-protein signaling 12

regulator of G-protein signalling 12

RGS12 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
种属内
RGS12 O14924 PM20D2 Homo sapiens Q8IYS1 32296183
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
Mosaic Variegated Aneuploidy Syndrome

Warburton-Anyane-Yeboa Syndrome

Mva Syndrome

Mosaic Variegated Aneuplody Microcephaly Syndrome

Warburton Anyane Yeboa Syndrome

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
Macaca mulatta RGS12 VGNC VGNC:100266
Mus musculus RGS12 MGD MGI:1918979
Canis familiaris RGS12 VGNC VGNC:45522
Felis catus RGS12 VGNC VGNC:69312
Rattus norvegicus RGS12 RGD RGD:3564