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

Gene ID: 93663, updated on 9-Feb-2020

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
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
ARHGAP18 belongs to a family of Rho (see MIM 165390) GTPase-activating proteins that modulate cell signaling (Potkin et al., 2009 [PubMed 19065146]).[supplied by OMIM, Apr 2010]
Expression
Ubiquitous expression in adrenal (RPKM 22.0), lung (RPKM 16.4) and 25 other tissues See more
Orthologs

Genomic context

See ARHGAP18 in Genome Data Viewer
Location:
6q22.33
Exon count:
16
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (129576132..129710225, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (129897290..130031370, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene laminin subunit alpha 2 Neighboring gene RNA, U6 small nuclear 861, pseudogene Neighboring gene uncharacterized LOC102723409 Neighboring gene Sharpr-MPRA regulatory region 14599 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: 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
Genetically distinct subsets within ANCA-associated vasculitis.
NHGRI GWA Catalog
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
NHGRI GWA Catalog
Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
NHGRI GWA Catalog
Heritability and genetic association analysis of cognition in the Diabetes Heart Study.
NHGRI GWA Catalog
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25728, MGC126757, MGC138145

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
cadherin binding HDA PubMed 
Process Evidence Code Pubs
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of actin cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of actin filament polymerization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of actin filament polymerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell motility IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell shape IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of small GTPase mediated signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of small GTPase mediated signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
small GTPase mediated signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

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

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.

mRNA and Protein(s)

  1. NM_033515.3NP_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
    Q8N392
    Related
    ENSP00000357131.2, ENST00000368149.3
    Conserved Domains (1) summary
    cd04391
    Location:321534
    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: 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_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    129576132..129710225 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005267213.1XP_005267270.1  rho GTPase-activating protein 18 isoform X3

    Conserved Domains (1) summary
    cd04391
    Location:321534
    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 ...
  2. XM_017011494.1XP_016866983.1  rho GTPase-activating protein 18 isoform X2

  3. XM_005267212.2XP_005267269.2  rho GTPase-activating protein 18 isoform X1

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