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IQGAP2 IQ motif containing GTPase activating protein 2 [ Homo sapiens (human) ]

Gene ID: 10788, updated on 21-Dec-2019

Summary

Official Symbol
IQGAP2provided by HGNC
Official Full Name
IQ motif containing GTPase activating protein 2provided by HGNC
Primary source
HGNC:HGNC:6111
See related
Ensembl:ENSG00000145703 MIM:605401
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Expression
Broad expression in liver (RPKM 36.3), duodenum (RPKM 28.2) and 21 other tissues See more
Orthologs

Genomic context

See IQGAP2 in Genome Data Viewer
Location:
5q13.3
Exon count:
41
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (76403285..76708132)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (75699131..76003957)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 10118 Neighboring gene small nuclear ribonucleoprotein polypeptide C pseudogene 2 Neighboring gene sulfiredoxin 1 pseudogene Neighboring gene uncharacterized LOC101929109 Neighboring gene coagulation factor II thrombin receptor like 2 Neighboring gene non-protein coding RNA, upstream of F2R/PAR1 Neighboring gene coagulation factor II thrombin receptor

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study for age-related hearing impairment in the Saami.
NHGRI GWA Catalog
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Arp2/3 complex binding IDA
Inferred from Direct Assay
more info
PubMed 
GTPase inhibitor activity TAS
Traceable Author Statement
more info
PubMed 
Rac GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
Rho GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
actin binding TAS
Traceable Author Statement
more info
PubMed 
actin filament binding IDA
Inferred from Direct Assay
more info
PubMed 
calmodulin binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphatidylinositol-3,4,5-trisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
Arp2/3 complex-mediated actin nucleation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
thrombin-activated receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
actin cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
filopodium IDA
Inferred from Direct Assay
more info
PubMed 
lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
microvillus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
secretory granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ras GTPase-activating-like protein IQGAP2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_053128.1 RefSeqGene

    Range
    5001..309878
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001285460.1NP_001272389.1  ras GTPase-activating-like protein IQGAP2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' terminal exon and initiates translation from an in-frame downstream start codon compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AB208856, AK302510, BQ002800, U51903
    Consensus CDS
    CCDS75262.1
    UniProtKB/Swiss-Prot
    Q13576
    UniProtKB/TrEMBL
    B7Z7U6, Q59HA3
    Related
    ENSP00000442313.2, ENST00000379730.7
    Conserved Domains (5) summary
    smart00015
    Location:639660
    IQ; Calmodulin-binding motif
    smart00323
    Location:8551184
    RasGAP; GTPase-activator protein for Ras-like GTPases
    cd00014
    Location:1106
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    pfam03836
    Location:13171448
    RasGAP_C; RasGAP C-terminus
    cl02569
    Location:8661224
    RasGAP; Ras GTPase Activating Domain
  2. NM_001285461.1NP_001272390.1  ras GTPase-activating-like protein IQGAP2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has several differences compared to variant 1, including an alternate 5' terminal exon, use of an alternate translation initiation codon and lacking an in-frame coding exon. The resulting shorter isoform (3) has a novel N-terminus and lacks an internal protein segment compared to isoform 1.
    Source sequence(s)
    AB208856, AK302510, AY351902, BQ002800, DB071610, U51903
    Consensus CDS
    CCDS68897.1
    UniProtKB/Swiss-Prot
    Q13576
    UniProtKB/TrEMBL
    B7Z7U6, Q59HA3
    Related
    ENSP00000379535.3, ENST00000396234.7
    Conserved Domains (3) summary
    cd05131
    Location:412770
    RasGAP_IQGAP2; Ras-GTPase Activating Domain of IQ motif containing GTPase activating protein 2
    smart00323
    Location:401730
    RasGAP; GTPase-activator protein for Ras-like GTPases
    pfam03836
    Location:863994
    RasGAP_C; RasGAP C-terminus
  3. NM_001285462.1NP_001272391.1  ras GTPase-activating-like protein IQGAP2 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has several differences compared to variant 1, including an alternate 5' terminal exon, use of an alternate translation initiation codon and lacking an in-frame coding exon. The resulting shorter isoform (4) has a novel N-terminus and lacks an internal protein segment compared to isoform 1.
    Source sequence(s)
    AB208856, AK302599, AK303054, BQ002800
    Consensus CDS
    CCDS68898.1
    UniProtKB/Swiss-Prot
    Q13576
    UniProtKB/TrEMBL
    B7Z7X2, Q59HA3
    Related
    ENSP00000426027.1, ENST00000502745.5
    Conserved Domains (3) summary
    cd05131
    Location:412770
    RasGAP_IQGAP2; Ras-GTPase Activating Domain of IQ motif containing GTPase activating protein 2
    smart00323
    Location:401730
    RasGAP; GTPase-activator protein for Ras-like GTPases
    pfam03836
    Location:863994
    RasGAP_C; RasGAP C-terminus
  4. NM_006633.4NP_006624.2  ras GTPase-activating-like protein IQGAP2 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AB208856, AK291066, AK302510, BQ002800, U51903
    Consensus CDS
    CCDS34188.1
    UniProtKB/Swiss-Prot
    Q13576
    UniProtKB/TrEMBL
    B7Z7U6, Q59HA3
    Related
    ENSP00000274364.6, ENST00000274364.11
    Conserved Domains (5) summary
    smart00015
    Location:689710
    IQ; Calmodulin-binding motif
    smart00323
    Location:9051234
    RasGAP; GTPase-activator protein for Ras-like GTPases
    cd00014
    Location:42156
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    pfam03836
    Location:13671498
    RasGAP_C; RasGAP C-terminus
    cl02569
    Location:9161274
    RasGAP; Ras GTPase Activating Domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    76403285..76708132
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008960.1XP_016864449.1  ras GTPase-activating-like protein IQGAP2 isoform X3

  2. XM_024454337.1XP_024310105.1  ras GTPase-activating-like protein IQGAP2 isoform X2

    Conserved Domains (3) summary
    smart00015
    Location:662683
    IQ; Calmodulin-binding motif
    cd05131
    Location:8891247
    RasGAP_IQGAP2; Ras-GTPase Activating Domain of IQ motif containing GTPase activating protein 2
    cl27227
    Location:7571548
    RasGAP_C; RasGAP C-terminus
  3. XM_005248410.3XP_005248467.1  ras GTPase-activating-like protein IQGAP2 isoform X2

    Conserved Domains (3) summary
    smart00015
    Location:662683
    IQ; Calmodulin-binding motif
    cd05131
    Location:8891247
    RasGAP_IQGAP2; Ras-GTPase Activating Domain of IQ motif containing GTPase activating protein 2
    cl27227
    Location:7571548
    RasGAP_C; RasGAP C-terminus
  4. XM_024454336.1XP_024310104.1  ras GTPase-activating-like protein IQGAP2 isoform X1

    Conserved Domains (3) summary
    smart00015
    Location:687708
    IQ; Calmodulin-binding motif
    cd05131
    Location:9141272
    RasGAP_IQGAP2; Ras-GTPase Activating Domain of IQ motif containing GTPase activating protein 2
    cl27227
    Location:7821573
    RasGAP_C; RasGAP C-terminus
  5. XM_011543108.2XP_011541410.1  ras GTPase-activating-like protein IQGAP2 isoform X5

    Conserved Domains (4) summary
    smart00015
    Location:242263
    IQ; Calmodulin-binding motif
    cd05131
    Location:469827
    RasGAP_IQGAP2; Ras-GTPase Activating Domain of IQ motif containing GTPase activating protein 2
    smart00323
    Location:458787
    RasGAP; GTPase-activator protein for Ras-like GTPases
    pfam03836
    Location:9201051
    RasGAP_C; RasGAP C-terminus
  6. XM_005248414.2XP_005248471.1  ras GTPase-activating-like protein IQGAP2 isoform X4

    Conserved Domains (4) summary
    smart00015
    Location:242263
    IQ; Calmodulin-binding motif
    cd05131
    Location:469827
    RasGAP_IQGAP2; Ras-GTPase Activating Domain of IQ motif containing GTPase activating protein 2
    smart00323
    Location:458787
    RasGAP; GTPase-activator protein for Ras-like GTPases
    pfam03836
    Location:9201051
    RasGAP_C; RasGAP C-terminus
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