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    ARHGAP28 Rho GTPase activating protein 28 [ Homo sapiens (human) ]

    Gene ID: 79822, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ARHGAP28provided by HGNC
    Official Full Name
    Rho GTPase activating protein 28provided by HGNC
    Primary source
    HGNC:HGNC:25509
    See related
    Ensembl:ENSG00000088756 MIM:610592; AllianceGenome:HGNC:25509
    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 negative regulation of stress fiber assembly; regulation of actin filament polymerization; and regulation of small GTPase mediated signal transduction. Located in cell junction and nucleoplasm. Implicated in allergic disease. Biomarker of meningioma. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 21.0), placenta (RPKM 7.7) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARHGAP28 in Genome Data Viewer
    Location:
    18p11.31
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (6729716..6915716)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (6890201..7076260)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (6729715..6915715)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1387 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:6557353-6558046 Neighboring gene uncharacterized LOC105371972 Neighboring gene uncharacterized LOC107985176 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:6570281-6571070 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:6571071-6571861 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:6575977-6576203 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr18:6605546-6606358 Neighboring gene RNA, 7SL, cytoplasmic 282, pseudogene Neighboring gene ARHGAP28 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:6729485-6730448 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:6740450-6740950 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:6740951-6741451 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:6751961-6752536 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:6752537-6753112 Neighboring gene NANOG hESC enhancer GRCh37_chr18:6782830-6783412 Neighboring gene long intergenic non-protein coding RNA 668 Neighboring gene RNA, U6 small nuclear 916, pseudogene Neighboring gene SCML2 pseudogene 1

    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. Association of substance dependence phenotypes in the COGA sample. Wetherill L, et al. Addict Biol, 2015 May. PMID 24832863, Free PMC Article
    2. Arhgap28 is a RhoGAP that inactivates RhoA and downregulates stress fibers. Yeung CY, et al. PLoS One, 2014. PMID 25211221, Free PMC Article
    3. DNA sequence and analysis of human chromosome 18. Nusbaum C, et al. Nature, 2005 Sep 22. PMID 16177791
    4. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Feb 28. PMID 10718198
    5. The functional landscape of Hsp27 reveals new cellular processes such as DNA repair and alternative splicing and proposes novel anticancer targets. Katsogiannou M, et al. Mol Cell Proteomics, 2014 Dec. PMID 25277244, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10312, FLJ27160, DKFZp686A2038

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of stress fiber assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of actin filament polymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of small GTPase mediated signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
    		  
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    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 28
    Names
    rho-type GTPase-activating protein 28

    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_001010000.3 → NP_001010000.1  rho GTPase-activating protein 28 isoform a

      See identical proteins and their annotated locations for NP_001010000.1

      Status: VALIDATED

      Source sequence(s)
      AI435330, AK302026, AP005210, BX648684
      Consensus CDS
      CCDS32785.1
      UniProtKB/TrEMBL
      E9PMX7
      Related
      ENSP00000392660.2, ENST00000419673.6
      Conserved Domains (1) summary
      cd04391
      Location:218 → 429
      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. NM_001366230.1 → NP_001353159.1  rho GTPase-activating protein 28 isoform c

      Status: VALIDATED

      Source sequence(s)
      AP005205, AP005210
      Consensus CDS
      CCDS92429.1
      UniProtKB/Swiss-Prot
      A8MQB7, A8MU88, Q6P160, Q8N4T3, Q9NW53, Q9P2N2
      Related
      ENSP00000372964.4, ENST00000383472.9
      Conserved Domains (1) summary
      cd04391
      Location:377 → 588
      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 ...

    3. NM_001366231.1 → NP_001353160.1  rho GTPase-activating protein 28 isoform d

      Status: VALIDATED

      Source sequence(s)
      AP005205, AP005210
      Conserved Domains (1) summary
      cd04391
      Location:377 → 588
      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 GTP-bound form but ...

    4. NM_001410873.1 → NP_001397802.1  rho GTPase-activating protein 28 isoform e

      Status: VALIDATED

      Source sequence(s)
      AP005205, AP005210
      Consensus CDS
      CCDS92430.1
      Related
      ENSP00000262227.3, ENST00000262227.7

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      6729716..6915716
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005258146.3 → XP_005258203.1  rho GTPase-activating protein 28 isoform X1

      Conserved Domains (1) summary
      cd04391
      Location:395 → 580
      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_047437794.1 → XP_047293750.1  rho GTPase-activating protein 28 isoform X2

    3. XM_047437799.1 → XP_047293755.1  rho GTPase-activating protein 28 isoform X3

    4. XM_047437796.1 → XP_047293752.1  rho GTPase-activating protein 28 isoform X4

    5. XM_047437795.1 → XP_047293751.1  rho GTPase-activating protein 28 isoform X3

    6. XM_047437797.1 → XP_047293753.1  rho GTPase-activating protein 28 isoform X3

    7. XM_047437798.1 → XP_047293754.1  rho GTPase-activating protein 28 isoform X3

    8. XM_047437800.1 → XP_047293756.1  rho GTPase-activating protein 28 isoform X3

    9. XM_047437801.1 → XP_047293757.1  rho GTPase-activating protein 28 isoform X3

    10. XM_047437803.1 → XP_047293759.1  rho GTPase-activating protein 28 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      6890201..7076260
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319100.1 → XP_054175075.1  rho GTPase-activating protein 28 isoform X1

    2. XM_054319101.1 → XP_054175076.1  rho GTPase-activating protein 28 isoform X2

    3. XM_054319106.1 → XP_054175081.1  rho GTPase-activating protein 28 isoform X3

    4. XM_054319103.1 → XP_054175078.1  rho GTPase-activating protein 28 isoform X4

    5. XM_054319102.1 → XP_054175077.1  rho GTPase-activating protein 28 isoform X3

    6. XM_054319104.1 → XP_054175079.1  rho GTPase-activating protein 28 isoform X3

    7. XM_054319105.1 → XP_054175080.1  rho GTPase-activating protein 28 isoform X3

    8. XM_054319107.1 → XP_054175082.1  rho GTPase-activating protein 28 isoform X3

    9. XM_054319108.1 → XP_054175083.1  rho GTPase-activating protein 28 isoform X3

    10. XM_054319109.1 → XP_054175084.1  rho GTPase-activating protein 28 isoform X5

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_030672.2: Suppressed sequence

      Description
      NM_030672.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2N2.3 GenPept UniProtKB/Swiss-Prot:Q9P2N2

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

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