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

    Gene ID: 393, updated on 28-Oct-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_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (153907378..153926264, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152181090..152199981, complement)
    RS_2024_09 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 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. Rho GTPase-activating protein 4 is upregulated in Kidney Renal Clear Cell Carcinoma and associated with poor prognosis and immune infiltration. Xiao X, et al. Cancer Biomark, 2024. PMID 38905034, Free PMC Article
    2. ARHGAP4 variants are associated with X-linked early-onset temporal lobe epilepsy. Hu YY, et al. World J Pediatr, 2024 Aug. PMID 39060771
    3. ARHGAP4 mutated in a Chinese intellectually challenged family. Liu F, et al. Gene, 2016 Mar 10. PMID 26707211
    4. 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
    5. Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiae. Tribioli C, et al. Hum Mol Genet, 1994 Jul. PMID 7981673

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ARHGAP4 variants are associated with X-linked early-onset temporal lobe epilepsy.
      Title: ARHGAP4 variants are associated with X-linked early-onset temporal lobe epilepsy.
    2. Rho GTPase-activating protein 4 is upregulated in Kidney Renal Clear Cell Carcinoma and associated with poor prognosis and immune infiltration.
      Title: Rho GTPase-activating protein 4 is upregulated in Kidney Renal Clear Cell Carcinoma and associated with poor prognosis and immune infiltration.
    3. ARHGAP4 promotes leukemogenesis in acute myeloid leukemia by inhibiting DRAM1 signaling.
      Title: ARHGAP4 promotes leukemogenesis in acute myeloid leukemia by inhibiting DRAM1 signaling.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    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 identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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