1. Gene
  2. CHN2 - chimerin 2 Gene

CHN2 - chimerin 2 Gene

中文名称:嵌合体 2

种属: Homo sapiens

同用名: BCH; CHN2-3; ARHGAP3; RHOGAP3

基因 ID: 1124 | 基因类型: protein coding

关于 CHN2

Cytogenetic location: 7p14.3 Genomic coordinates (GRCh38): 7:29,146,591-29,514,328 (from NCBI)

This gene has 30 transcripts (splice variants), 223 orthologues and 4 paralogues. Broad expression in duodenum (RPKM 21.4), small intestine (RPKM 16.7) and 20 other tissues.

功能概要

该基因编码一种鸟苷三磷酸 (GTP) 代谢蛋白,该蛋白包含佛波醇酯/甘油二酯 (DAG) 型锌指、Rho-GAP 结构域和 SH2 结构域。编码的蛋白质在与甘油二酯 (DAG) 结合后从胞质溶胶易位到高尔基体膜。这种蛋白质的活性在细胞增殖和迁移中很重要,并且已经在癌症中检测到这种基因的表达变化。该基因的突变也与男性精神分裂症有关。替代转录物剪接和替代启动子的使用导致多个转录物变体。[RefSeq 提供,2014 年 5 月]

This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that contains a phorbol-ester/diacylglycerol (DAG)-type zinc finger, a Rho-GAP domain, and an SH2 domain. The encoded protein translocates from the cytosol to the Golgi apparatus membrane upon binding by diacylglycerol (DAG). Activity of this protein is important in cell proliferation and migration, and expression changes in this gene have been detected in cancers. A mutation in this gene has also been associated with schizophrenia in men. Alternative transcript splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, May 2014]

CHN2 基因产物(14)

mRNA Protein Name
NM_001039936.3 NP_001035025.1 beta-chimaerin isoform 1
NM_001293070.2 NP_001279999.1 beta-chimaerin isoform 4
NM_001293071.2 NP_001280000.1 beta-chimaerin isoform 5
NM_001293072.2 NP_001280001.1 beta-chimaerin isoform 6
NM_001293073.2 NP_001280002.1 beta-chimaerin isoform 7
NM_001293075.2 NP_001280004.1 beta-chimaerin isoform 8
NM_001293076.2 NP_001280005.1 beta-chimaerin isoform 9
NM_001293077.2 NP_001280006.1 beta-chimaerin isoform 10
NM_001293078.2 NP_001280007.1 beta-chimaerin isoform 11
NM_001293079.2 NP_001280008.1 beta-chimaerin isoform 12
NM_001293080.2 NP_001280009.1 beta-chimaerin isoform 13
NM_001293081.2 NP_001280010.1 beta-chimaerin isoform 14
NM_001398427.1 NP_001385356.1 beta-chimaerin isoform 15
NM_004067.4 NP_004058.1 beta-chimaerin isoform 2
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 GTPase activator activity IDA
IDA: 通过直接分析推断
8175705 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16628218 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in synapse IDA
IDA: 通过直接分析推断
8175705 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

CHN2 蛋白结构

SH2

SH2: SH2 domain (60 - 128)

C1_1

C1_1: Phorbol esters/diacylglycerol binding domain (C1 domain) (215 - 266)

RhoGAP

RhoGAP: RhoGAP domain (291 - 441)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 468 a.a.
蛋白主名 其他名称

beta-chimaerin

beta-chimerin

CHN2 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
CHN2 P52757 SENP8 Homo sapiens Q96LD8 32296183
种属内
CHN2 P52757 SENP8 Homo sapiens Q96LD8 32296183
种属内
CHN2 P52757 SENP8 Homo sapiens Q96LD8 32296183
种属内
CHN2 P52757 ANKK1 Homo sapiens Q8NFD2 32296183
种属内
CHN2 P52757 SHF Homo sapiens Q8N9I8 32296183
种属内
CHN2 P52757 SHF Homo sapiens Q8N9I8 32296183
种属内
CHN2 P52757 SHF Homo sapiens Q8N9I8 32296183
种属内
CHN2 P52757 NCK1 Homo sapiens P16333 32296183
种属内
CHN2 P52757 NCK1 Homo sapiens P16333 32296183
种属内
CHN2 P52757 RAC1 Homo sapiens P63000 16628218
种属内
CHN2 P52757 RAC1 Homo sapiens P63000 16628218
种属内
CHN2 P52757 RAC1 Homo sapiens P63000 16628218
种属内
CHN2 P52757 RAC1 Homo sapiens P63000 16628218
种属内
CHN2 P52757 NCK2 Homo sapiens O43639 32296183
种属内
CHN2 P52757 NCK2 Homo sapiens O43639 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
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Duodenum Adenocarcinoma

Duodenal Adenocarcinoma

Hypertrophic Neuropathy Of Dejerine-Sottas

Dejerine-Sottas Disease

Dejerine-Sottas Syndrome

Charcot-Marie-Tooth Disease Type 3

DSS

Hereditary Motor And Sensory Neuropathy Type Iii

Hmsn3

Dejerine-Sottas Neuropathy

Hmsn Iii

Charcot-Marie-Tooth Disease, Type 3

Cmt3

Dsn

Hmsn 3

Hereditary Motor And Sensory Neuropathy Type 3

Hereditary Motor And Sensory Neuropathy 3

Hypertrophic Neuropathy Of Infancy

Charcot-Marie-Tooth Disease Demyelinating Type 4f

Charcot-Marie-Tooth Disease Type 4f

Charcot-Marie-Tooth Neuropathy Type 4f

Cmt4f

Hereditary Motor And Sensory Neuropathy Iii

Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

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 CHN2 VGNC VGNC:49738
Felis catus CHN2 VGNC VGNC:69373
Mus musculus CHN2 MGD MGI:1917243
Bos taurus CHN2 VGNC VGNC:50060
Rattus norvegicus CHN2 RGD RGD:620140
Macaca mulatta CHN2 VGNC VGNC:80861