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

Gene ID: 10788, updated on 3-Apr-2024

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; AllianceGenome:HGNC:6111
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
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Genomic context

Location:
5q13.3
Exon count:
41
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (76403285..76708132)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (76885042..77189993)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (75699110..76003957)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene synaptic vesicle glycoprotein 2C Neighboring gene uncharacterized LOC105379042 Neighboring gene NANOG hESC enhancer GRCh37_chr5:75592019-75592901 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:75590840-75592039 Neighboring gene GATA motif-containing MPRA enhancer 83 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:75621257-75621756 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:75631008-75631638 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:75632271-75632901 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:75633873-75634098 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:75635379-75636148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22689 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:75652737-75653716 Neighboring gene Sharpr-MPRA regulatory region 10118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:75690574-75691074 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:75691075-75691575 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:75699075-75699575 Neighboring gene small nuclear ribonucleoprotein polypeptide C pseudogene 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:75767824-75769023 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:75794074-75794996 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:75794997-75795918 Neighboring gene sulfiredoxin 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16105 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22690 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:75852604-75853098 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22692 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22693 Neighboring gene uncharacterized LOC101929109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22694 Neighboring gene Sharpr-MPRA regulatory region 1022 Neighboring gene coagulation factor II thrombin receptor like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:76013800-76014300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:76014301-76014801 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16107 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

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables Arp2/3 complex binding IDA
Inferred from Direct Assay
more info
PubMed 
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables GTPase inhibitor activity TAS
Traceable Author Statement
more info
PubMed 
enables actin binding TAS
Traceable Author Statement
more info
PubMed 
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables actin filament binding IDA
Inferred from Direct Assay
more info
PubMed 
enables calmodulin binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables calmodulin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables phosphatidylinositol-3,4,5-trisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
enables small GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in actin cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
is_active_in cell cortex IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cell surface IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in filopodium IDA
Inferred from Direct Assay
more info
PubMed 
located_in lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
located_in microvillus IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in secretory granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ras GTPase-activating-like protein IQGAP2

NCBI Reference Sequences (RefSeq)

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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_053128.2 RefSeqGene

    Range
    5002..309849
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001285460.2NP_001272389.2  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)
    AC025188, AC026706, AC026725
    Consensus CDS
    CCDS75262.1
    UniProtKB/TrEMBL
    B7Z7U6, F5H7S7
    Related
    ENSP00000442313.2, ENST00000379730.7
    Conserved Domains (4) summary
    smart00015
    Location:639660
    IQ; Calmodulin-binding motif
    COG5261
    Location:7341525
    IQG1; Protein involved in regulation of cellular morphogenesis/cytokinesis [Cell division and chromosome partitioning / Signal transduction mechanisms]
    cl00030
    Location:1116
    CH_SF; calponin homology (CH) domain superfamily
    cl02569
    Location:8661224
    RasGAP; Ras GTPase Activating Domain
  2. NM_001285461.2NP_001272390.2  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)
    AC025188, AC026706, AC026725
    Consensus CDS
    CCDS68897.1
    UniProtKB/TrEMBL
    Q59HA3
    Related
    ENSP00000379535.3, ENST00000396234.7
    Conserved Domains (3) summary
    smart00456
    Location:153180
    WW; Domain with 2 conserved Trp (W) residues
    cd05131
    Location:412770
    RasGAP_IQGAP2; Ras-GTPase Activating Domain of IQ motif containing GTPase activating protein 2
    COG5261
    Location:2801071
    IQG1; Protein involved in regulation of cellular morphogenesis/cytokinesis [Cell division and chromosome partitioning / Signal transduction mechanisms]
  3. NM_001285462.2NP_001272391.2  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)
    AC025188, AC026706, AC026725
    Consensus CDS
    CCDS68898.1
    UniProtKB/TrEMBL
    Q59HA3
    Related
    ENSP00000426027.1, ENST00000502745.5
    Conserved Domains (3) summary
    smart00456
    Location:153180
    WW; Domain with 2 conserved Trp (W) residues
    cd05131
    Location:412770
    RasGAP_IQGAP2; Ras-GTPase Activating Domain of IQ motif containing GTPase activating protein 2
    COG5261
    Location:2801071
    IQG1; Protein involved in regulation of cellular morphogenesis/cytokinesis [Cell division and chromosome partitioning / Signal transduction mechanisms]
  4. NM_006633.5NP_006624.3  ras GTPase-activating-like protein IQGAP2 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC025188, AC026706, AC026725, AC093251, AC112173
    Consensus CDS
    CCDS34188.1
    UniProtKB/Swiss-Prot
    A8K4V1, B7Z8A4, J3KR91, Q13576
    UniProtKB/TrEMBL
    B7Z7U6
    Related
    ENSP00000274364.6, ENST00000274364.11
    Conserved Domains (4) summary
    smart00015
    Location:689710
    IQ; Calmodulin-binding motif
    COG5261
    Location:7841575
    IQG1; Protein involved in regulation of cellular morphogenesis/cytokinesis [Cell division and chromosome partitioning / Signal transduction mechanisms]
    cd21275
    Location:11166
    CH_IQGAP2; calponin homology (CH) domain found in Ras GTPase-activating-like protein IQGAP2
    cl02569
    Location:9161274
    RasGAP; Ras GTPase Activating Domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017008960.2XP_016864449.1  ras GTPase-activating-like protein IQGAP2 isoform X5

    UniProtKB/TrEMBL
    B7Z7U6
  2. XM_047416641.1XP_047272597.1  ras GTPase-activating-like protein IQGAP2 isoform X1

  3. XM_005248410.4XP_005248467.1  ras GTPase-activating-like protein IQGAP2 isoform X3

    UniProtKB/TrEMBL
    B7Z7U6
    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_024454336.2XP_024310104.1  ras GTPase-activating-like protein IQGAP2 isoform X2

    UniProtKB/TrEMBL
    B7Z7U6
    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_047416643.1XP_047272599.1  ras GTPase-activating-like protein IQGAP2 isoform X4

    UniProtKB/TrEMBL
    F5H7S7
  6. XM_047416642.1XP_047272598.1  ras GTPase-activating-like protein IQGAP2 isoform X4

    UniProtKB/TrEMBL
    F5H7S7
  7. XM_005248414.3XP_005248471.1  ras GTPase-activating-like protein IQGAP2 isoform X7

    UniProtKB/TrEMBL
    Q59HA3
    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
  8. XM_011543108.3XP_011541410.1  ras GTPase-activating-like protein IQGAP2 isoform X6

    UniProtKB/TrEMBL
    Q59HA3
    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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    76885042..77189993
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054351462.1XP_054207437.1  ras GTPase-activating-like protein IQGAP2 isoform X5

  2. XM_054351458.1XP_054207433.1  ras GTPase-activating-like protein IQGAP2 isoform X1

  3. XM_054351460.1XP_054207435.1  ras GTPase-activating-like protein IQGAP2 isoform X3

  4. XM_054351459.1XP_054207434.1  ras GTPase-activating-like protein IQGAP2 isoform X2

  5. XM_054351461.1XP_054207436.1  ras GTPase-activating-like protein IQGAP2 isoform X4

  6. XM_054351464.1XP_054207439.1  ras GTPase-activating-like protein IQGAP2 isoform X7

  7. XM_054351463.1XP_054207438.1  ras GTPase-activating-like protein IQGAP2 isoform X6