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

    Gene ID: 10788, updated on 27-Nov-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
    NEW
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    Genomic context

    See IQGAP2 in Genome Data Viewer
    Location:
    5q13.3
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (76403285..76708132)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (76885042..77189993)
    RS_2024_09 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 microtubule 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)

    NEW Try the new Transcript table

    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_2024_08

    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