1. Gene
  2. IQGAP2 - IQ motif containing GTPase activating protein 2 Gene

IQGAP2 - IQ motif containing GTPase activating protein 2 Gene

中文名称:含 IQ 基序的 GTPase 激活蛋白 2

种属: Homo sapiens

基因 ID: 10788 | 基因类型: protein coding

关于 IQGAP2

Cytogenetic location: 5q13.3 Genomic coordinates (GRCh38): 5:76,403,285-76,708,132 (from NCBI)

This gene has 21 transcripts (splice variants), 209 orthologues and 2 paralogues. Broad expression in liver (RPKM 36.3), duodenum (RPKM 28.2) and 21 other tissues.

功能概要

该基因编码 IQGAP 家族的一个成员。编码的蛋白质包含三个 IQ 结构域、一个钙调蛋白同源结构域、一个 Ras-GAP 结构域和一个 WW 结构域。这种蛋白质与细胞骨架的成分、细胞粘附分子和几种信号分子相互作用,以调节细胞形态和运动。它还充当肿瘤抑制因子,并已被发现在调节先天抗病毒反应中发挥作用。可变剪接导致多个转录本变体。[RefSeq 提供,2017 年 4 月]

This gene encodes a member of the IQGAP family. The encoded protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. This protein interacts with components of the Cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. It also acts as a tumor suppressor and has been found to play a role in regulating innate Antiviral responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]

IQGAP2 基因产物(4)

mRNA Protein Name
NM_001285460.2 NP_001272389.2 ras GTPase-activating-like protein IQGAP2 isoform 2
NM_001285461.2 NP_001272390.2 ras GTPase-activating-like protein IQGAP2 isoform 3
NM_001285462.2 NP_001272391.2 ras GTPase-activating-like protein IQGAP2 isoform 4
NM_006633.5 NP_006624.3 ras GTPase-activating-like protein IQGAP2 isoform 1

IQGAP2 蛋白结构

CH

CH: Calponin homology (CH) domain (46 - 155)

IQ

IQ: IQ calmodulin-binding motif (693 - 710)

IQ

IQ: IQ calmodulin-binding motif (722 - 740)

RasGAP

RasGAP: GTPase-activator protein for Ras-like GTPase (938 - 1150)

RasGAP_C

RasGAP_C: RasGAP C-terminus (1366 - 1500)

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  • 1575 a.a.
蛋白主名 其他名称

ras GTPase-activating-like protein IQGAP2

IQGAP2 抗体

目录号 产品名 应用 反应物种
HY-P83277 IQGAP2 Antibody (YA3022) WB, IHC-P Human

关联疾病

疾病名称 别名
Deafness, Autosomal Dominant 64

DFNA64

Autosomal Dominant Nonsyndromic Deafness 64

Autosomal Dominant Deafness 64

Deafness, Autosomal Dominant, 64

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 64

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 64

Deafness, Autosomal Dominant, Type 64

Lethal Restrictive Dermopathy

Hyperkeratosis-Contracture Syndrome

Tight Skin Contracture Syndrome

Tight Skin Contracture Syndrome, Lethal

Dermopathy, Restrictive, Lethal

Enchondromatosis, Multiple, Ollier Type

Ollier Disease

Enchondromatosis

Dyschondroplasia

Osteochondromatosis

Multiple Cartilaginous Enchondroses

Multiple Enchondromatosis

Enchondromatosis With Haemangiomata

Enchondromatosis, Multiple

Kast'S Syndrome

Ollier'S Syndrome

Enchondromatosis Multiple

ENCHOM

Maffucci Disease

Olliers Disease

Hereditary Multiple Exostoses

Chondromatosis

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
Bos taurus IQGAP2 VGNC VGNC:30259
Canis familiaris IQGAP2 VGNC VGNC:42082
Mus musculus IQGAP2 MGD MGI:2449975
Macaca mulatta IQGAP2 VGNC VGNC:73756
Rattus norvegicus IQGAP2 RGD RGD:2321734
Felis catus IQGAP2 VGNC VGNC:67818