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    ARHGAP18 Rho GTPase activating protein 18 [ Homo sapiens (human) ]

    Gene ID: 93663, updated on 10-Dec-2024

    Summary

    Official Symbol
    ARHGAP18provided by HGNC
    Official Full Name
    Rho GTPase activating protein 18provided by HGNC
    Primary source
    HGNC:HGNC:21035
    See related
    Ensembl:ENSG00000146376 MIM:613351; AllianceGenome:HGNC:21035
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SENEX; MacGAP; bA307O14.2
    Summary
    Enables GTPase activator activity. Involved in several processes, including regulation of actin filament polymerization; regulation of small GTPase mediated signal transduction; and small GTPase-mediated signal transduction. Located in cytosol; nuclear speck; and plasma membrane. Part of cytoplasmic microtubule and ruffle. Implicated in schizophrenia. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in adrenal (RPKM 22.0), lung (RPKM 16.4) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ARHGAP18 in Genome Data Viewer
    Location:
    6q22.33
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (129576132..129710177, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (130769768..130904795, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (129897277..130031322, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene laminin subunit alpha 2 Neighboring gene uncharacterized LOC124901401 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:129811717-129812916 Neighboring gene uncharacterized LOC102723409 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:129822854-129824053 Neighboring gene Sharpr-MPRA regulatory region 13537 Neighboring gene MPRA-validated peak6120 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25046 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25045 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17533 Neighboring gene Sharpr-MPRA regulatory region 14599 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25048 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17534 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25049 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89620 Neighboring gene beta-1,3-N-acetylgalactosaminyltransferase 2 pseudogene 1 Neighboring gene ribosomal protein L5 pseudogene 21

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (14 hits/1263 screens)

    EBI GWAS Catalog

    Description
    Genetically distinct subsets within ANCA-associated vasculitis.
    EBI GWAS Catalog
    Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
    EBI GWAS Catalog
    Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
    EBI GWAS Catalog
    Heritability and genetic association analysis of cognition in the Diabetes Heart Study.
    EBI GWAS Catalog
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    EBI GWAS Catalog

    Interactions

    General gene information

    Clone Names

    • FLJ25728, MGC126757, MGC138145

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in cytoplasm  
    located_in cytoplasm PubMed 
    located_in cytoplasmic microtubule PubMed 
    located_in cytosol  
    located_in cytosol  
    located_in nuclear speck  
    located_in plasma membrane  
    located_in ruffle PubMed 

    General protein information

    Preferred Names
    rho GTPase-activating protein 18
    Names
    rho-type GTPase-activating protein 18

    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.

    mRNA and Protein(s)

    1. NM_033515.3 → NP_277050.2  rho GTPase-activating protein 18

      See identical proteins and their annotated locations for NP_277050.2

      Status: VALIDATED

      Source sequence(s)
      AB053293, AL450310, BM557223, CB149638
      Consensus CDS
      CCDS34535.1
      UniProtKB/Swiss-Prot
      E1P575, Q58EZ3, Q6P679, Q6PJD7, Q8N392, Q96S64
      UniProtKB/TrEMBL
      A9UK01
      Related
      ENSP00000357131.2, ENST00000368149.3
      Conserved Domains (1) summary
      cd04391
      Location:321 → 534
      RhoGAP_ARHGAP18; RhoGAP_ARHGAP18: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP18-like proteins. The function of ArhGAP18 is unknown. Small GTPases cluster into distinct families, and all act as molecular switches, active in their ...

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      129576132..129710177 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      130769768..130904795 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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