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ARHGAP4 Rho GTPase activating protein 4 [ Homo sapiens (human) ]

Gene ID: 393, updated on 5-Mar-2024

Summary

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Official Symbol
ARHGAP4provided by HGNC
Official Full Name
Rho GTPase activating protein 4provided by HGNC
Primary source
HGNC:HGNC:674
See related
Ensembl:ENSG00000089820 MIM:300023; AllianceGenome:HGNC:674
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
Also known as
C1; RGC1; p115; SrGAP4; RhoGAP4
Summary
This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins belonging to the RAS superfamily. The protein encoded by the orthologous gene in rat is localized to the Golgi complex and can redistribute to microtubules. The rat protein stimulates the activity of some Rho GTPases in vitro. Genomic deletions of this gene and a neighboring gene have been found in patients with nephrogenic diabetes insipidus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Expression
Broad expression in spleen (RPKM 47.8), bone marrow (RPKM 45.7) and 16 other tissues See more
Orthologs
mouse all
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Genomic context

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See ARHGAP4 in Genome Data Viewer
Location:
Xq28
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (153907378..153926264, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152181090..152199981, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153172832..153191718, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene L1 cell adhesion molecule Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153147023-153148020 Neighboring gene L1CAM antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153174367-153175060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153175061-153175753 Neighboring gene arginine vasopressin receptor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153186395-153186896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153188877-153189377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21073 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21074 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153200750-153201255 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153201256-153201760 Neighboring gene N-alpha-acetyltransferase 10, NatA catalytic subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153204898-153205662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30043 Neighboring gene renin binding protein

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. ARHGAP4 regulates the cell migration and invasion of pancreatic cancer by the HDAC2/β-catenin signaling pathway. Shen Y, et al. Carcinogenesis, 2019 Nov 25. PMID 30958531
  2. ARHGAP4 mutated in a Chinese intellectually challenged family. Liu F, et al. Gene, 2016 Mar 10. PMID 26707211
  3. Comprehensive analysis on the whole Rho-GAP family reveals that ARHGAP4 suppresses EMT in epithelial cells under negative regulation by Septin9. Kang N, et al. FASEB J, 2020 Jun. PMID 32378260
  4. A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability. Huang L, et al. Am J Med Genet A, 2012 Oct. PMID 22965914
  5. Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes. Fujimoto M, et al. BMC Med Genet, 2008 May 20. PMID 18489790, Free PMC Article

See all (43) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ARHGAP4 promotes leukemogenesis in acute myeloid leukemia by inhibiting DRAM1 signaling.
    Title: ARHGAP4 promotes leukemogenesis in acute myeloid leukemia by inhibiting DRAM1 signaling.
  2. Candidate Oncogenes, ARHGAP4, NOS3, and OR51B5, for the Development of Scirrhous-type Gastric Cancer.
    Title: Candidate Oncogenes, ARHGAP4, NOS3, and OR51B5, for the Development of Scirrhous-type Gastric Cancer.
  3. ARHGAP4-SEPT2-SEPT9 complex enables both up- and down-modulation of integrin-mediated focal adhesions, cell migration, and invasion.
    Title: ARHGAP4-SEPT2-SEPT9 complex enables both up- and down-modulation of integrin-mediated focal adhesions, cell migration, and invasion.
  4. Comprehensive analysis on the whole Rho-GAP family reveals that ARHGAP4 suppresses EMT in epithelial cells under negative regulation by Septin9.
    Title: Comprehensive analysis on the whole Rho-GAP family reveals that ARHGAP4 suppresses EMT in epithelial cells under negative regulation by Septin9.
  5. ARHGAP4 regulates the cell migration and invasion of pancreatic cancer by the HDAC2/beta-catenin signaling pathway.
    Title: ARHGAP4 regulates the cell migration and invasion of pancreatic cancer by the HDAC2/β-catenin signaling pathway.
  6. The relation between ARHGAP4 mutation and Mental retardation(MR) clinical characteristic is needed to be illuminated with participation of more MR patients
    Title: ARHGAP4 mutated in a Chinese intellectually challenged family.
  7. ARHGAP4 rs2269368 was associated with risk of schizophrenia in a Han Chinese population.
    Title: Common variants on Xq28 conferring risk of schizophrenia in Han Chinese.
  8. X-linked nephrogenic diabetes insipidus (NDI) and intellectual disability in two dizygotic twin brothers was caused by a novel contiguous deletion of 17,905 bp of the entire AVPR2 gene and intron 7 of the ARHGAP4 gene.
    Title: A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability.
  9. PRL-1 binding to p115 RhoGAP provides a coordinated mechanism underlying ERK1/2 and RhoA activation
    Title: PRL-1 protein promotes ERK1/2 and RhoA protein activation through a non-canonical interaction with the Src homology 3 domain of p115 Rho GTPase-activating protein.
  10. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common variants on Xq28 conferring risk of schizophrenia in Han Chinese.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: L1CAM

Potential readthrough

Included gene: NAA10

Homology

Clone Names

  • KIAA0131

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in Rho protein signal transduction TAS
Traceable Author Statement
more info
 PubMed 
involved_in cytoskeleton organization TAS
Traceable Author Statement
more info
 PubMed 
involved_in negative regulation of axon extension IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of cell migration IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of fibroblast migration IEA
Inferred from Electronic Annotation
more info
  
involved_in nervous system development IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in growth cone IEA
Inferred from Electronic Annotation
more info
  
located_in microtubule IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
rho GTPase-activating protein 4
Names
Rho-GAP hematopoietic protein C1
rho-type GTPase-activating protein 4

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_013220.2 RefSeqGene

    Range
    5000..23886
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164741.2 → NP_001158213.1  rho GTPase-activating protein 4 isoform 1

    See identical proteins and their annotated locations for NP_001158213.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AI249937, BC052303, U52112, X78817
    Consensus CDS
    CCDS55540.1
    UniProtKB/TrEMBL
    A0A2X0SF61
    Related
    ENSP00000359045.3, ENST00000370028.7
    Conserved Domains (4) summary
    cd07656
    Location:26 → 321
    F-BAR_srGAP; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Slit-Robo GTPase Activating Proteins
    cd11956
    Location:788 → 842
    SH3_srGAP4; Src homology 3 domain of Slit-Robo GTPase Activating Protein 4
    pfam10422
    Location:391 → 512
    LRS4; Monopolin complex subunit LRS4
    cl02570
    Location:543 → 730
    RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...

  2. NM_001666.5 → NP_001657.3  rho GTPase-activating protein 4 isoform 2

    See identical proteins and their annotated locations for NP_001657.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1. The resulting isoform (2) lacks an alternate segment, compared to isoform 1.
    Source sequence(s)
    AI249937, BC052303, D50921, U52112, X78817
    Consensus CDS
    CCDS14736.1
    UniProtKB/Swiss-Prot
    P98171, Q14144, Q86UY3
    UniProtKB/TrEMBL
    Q9UGE8
    Related
    ENSP00000203786.8, ENST00000350060.10
    Conserved Domains (4) summary
    cd07656
    Location:26 → 281
    F-BAR_srGAP; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Slit-Robo GTPase Activating Proteins
    cd11956
    Location:748 → 802
    SH3_srGAP4; Src homology 3 domain of Slit-Robo GTPase Activating Protein 4
    pfam10422
    Location:351 → 472
    LRS4; Monopolin complex subunit LRS4
    cl02570
    Location:503 → 690
    RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...

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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    153907378..153926264 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    152181090..152199981 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P98171.2 GenPept UniProtKB/Swiss-Prot:P98171

Gene LinkOut

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