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    ARHGAP36 Rho GTPase activating protein 36 [ Homo sapiens (human) ]

    Gene ID: 158763, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ARHGAP36provided by HGNC
    Official Full Name
    Rho GTPase activating protein 36provided by HGNC
    Primary source
    HGNC:HGNC:26388
    See related
    Ensembl:ENSG00000147256 MIM:300937; AllianceGenome:HGNC:26388
    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
    Summary
    Predicted to enable GTPase activator activity. Predicted to be involved in signal transduction. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Restricted expression toward adrenal (RPKM 54.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See ARHGAP36 in Genome Data Viewer
    Location:
    Xq26.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (131058346..131089885)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (129378162..129409672)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (130192320..130223859)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ecto-NOX disulfide-thiol exchanger 2 Neighboring gene uncharacterized LOC124905217 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29945 Neighboring gene H3K27ac hESC enhancers GRCh37_chrX:130036549-130037068 and GRCh37_chrX:130037069-130037588 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29948 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:130093191-130093716 Neighboring gene long intergenic non-protein coding RNA 1201 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:130191672-130192325 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:130192326-130192978 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:130206444-130207164 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:130218349-130219548 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chrX:130262358-130262858 Neighboring gene RNA, 7SL, cytoplasmic 191, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:130291947-130292676 Neighboring gene olfactory receptor family 11 subfamily Q member 1 pseudogene

    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. Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation. Melo US, et al. Nat Commun, 2023 Apr 11. PMID 37041138, Free PMC Article
    2. Structure-activity mapping of ARHGAP36 reveals regulatory roles for its GAP homology and C-terminal domains. Nano PR, et al. PLoS One, 2021. PMID 33999959, Free PMC Article
    3. Bimodal antagonism of PKA signalling by ARHGAP36. Eccles RL, et al. Nat Commun, 2016 Oct 7. PMID 27713425, Free PMC Article
    4. Cdc42 and Rac1 activity is reduced in human pheochromocytoma and correlates with FARP1 and ARHGEF1 expression. Croisé P, et al. Endocr Relat Cancer, 2016 Apr. PMID 26911374
    5. Arhgap36-dependent activation of Gli transcription factors. Rack PG, et al. Proc Natl Acad Sci U S A, 2014 Jul 29. PMID 25024229, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structure-activity mapping of ARHGAP36 reveals regulatory roles for its GAP homology and C-terminal domains.
      Title: Structure-activity mapping of ARHGAP36 reveals regulatory roles for its GAP homology and C-terminal domains.
    2. PKA inhibition by ARHGAP36 promotes derepression of the Hedgehog signalling pathway, thereby providing a simple rationale for the upregulation of ARHGAP36 in medulloblastoma.
      Title: Bimodal antagonism of PKA signalling by ARHGAP36.
    3. We have reported here for the first time a reduced activity of both Rac1 and Cdc42 in human pheochromocytoma resection as well as tumor-associated expression changes of FARP1, ARHGEF1, and ARHGAP36
      Title: Cdc42 and Rac1 activity is reduced in human pheochromocytoma and correlates with FARP1 and ARHGEF1 expression.
    4. a new mechanism of Gli transcription factor activation and implicate ARHGAP36 dysregulation in the onset and/or progression of GLI-dependent cancers.
      Title: Arhgap36-dependent activation of Gli transcription factors.
    5. ARHGAP36 isoforms capable of Gli activation are up-regulated in a subset of human medulloblastomas.
      Title: Arhgap36-dependent activation of Gli transcription factors.
    Submit: New GeneRIF Correction

    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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ30058

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    rho GTPase-activating protein 36

    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.

    mRNA and Protein(s)

    1. NM_001282607.2 → NP_001269536.1  rho GTPase-activating protein 36 isoform 2

      See identical proteins and their annotated locations for NP_001269536.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate splice site in the 5' coding region whihc results in the use of an alternate start codon compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AA405456, AK296748, AL590131
      Consensus CDS
      CCDS65320.1
      UniProtKB/TrEMBL
      A0A2X0TVT1
      Related
      ENSP00000359960.1, ENST00000370922.5
      Conserved Domains (1) summary
      cd04376
      Location:215 → 420
      RhoGAP_ARHGAP6; RhoGAP_ARHGAP6: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP6-like proteins. ArhGAP6 shows GAP activity towards RhoA, but not towards Cdc42 and Rac1. ArhGAP6 is often deleted in microphthalmia with linear skin ...

    2. NM_001330651.1 → NP_001317580.1  rho GTPase-activating protein 36 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AL590131
      Consensus CDS
      CCDS83489.1
      UniProtKB/Swiss-Prot
      Q6ZRI8
      Related
      ENSP00000359959.1, ENST00000370921.1
      Conserved Domains (1) summary
      cd04376
      Location:91 → 296
      RhoGAP_ARHGAP6; RhoGAP_ARHGAP6: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP6-like proteins. ArhGAP6 shows GAP activity towards RhoA, but not towards Cdc42 and Rac1. ArhGAP6 is often deleted in microphthalmia with linear skin ...

    3. NM_144967.4 → NP_659404.2  rho GTPase-activating protein 36 isoform 1 precursor

      See identical proteins and their annotated locations for NP_659404.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK128203, AL590131, BC063790, CD107623
      Consensus CDS
      CCDS14628.1
      UniProtKB/Swiss-Prot
      B7Z234, B7Z439, Q5JRL9, Q5JRM0, Q5JRM1, Q6ZRI8, Q96NU6
      UniProtKB/TrEMBL
      A0A2X0TVT1
      Related
      ENSP00000276211.5, ENST00000276211.10
      Conserved Domains (1) summary
      cd04376
      Location:227 → 432
      RhoGAP_ARHGAP6; RhoGAP_ARHGAP6: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP6-like proteins. ArhGAP6 shows GAP activity towards RhoA, but not towards Cdc42 and Rac1. ArhGAP6 is often deleted in microphthalmia with linear skin ...

    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
      131058346..131089885
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531280.2 → XP_011529582.1  rho GTPase-activating protein 36 isoform X1

      See identical proteins and their annotated locations for XP_011529582.1

      UniProtKB/Swiss-Prot
      Q6ZRI8
      Conserved Domains (1) summary
      cd04376
      Location:91 → 296
      RhoGAP_ARHGAP6; RhoGAP_ARHGAP6: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP6-like proteins. ArhGAP6 shows GAP activity towards RhoA, but not towards Cdc42 and Rac1. ArhGAP6 is often deleted in microphthalmia with linear skin ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      129378162..129409672
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326542.1 → XP_054182517.1  rho GTPase-activating protein 36 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZRI8.1 GenPept UniProtKB/Swiss-Prot:Q6ZRI8

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