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

IQGAP2 - IQ motif containing GTPase activating protein 2 Gene

Homo sapiens
Gene ID: 10788 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

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.
Protein Preferred Names Protein Names

ras GTPase-activating-like protein IQGAP2

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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