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

Gene ID: 158763, updated on 5-Mar-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 regulation of catalytic activity and signal transduction. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward adrenal (RPKM 54.0) See more
Orthologs
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Genomic context

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Location:
Xq26.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (131058346..131089885)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (129378162..129409672)
105.20220307 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
  • 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_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
    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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