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    ARHGAP23 Rho GTPase activating protein 23 [ Homo sapiens (human) ]

    Gene ID: 57636, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ARHGAP23provided by HGNC
    Official Full Name
    Rho GTPase activating protein 23provided by HGNC
    Primary source
    HGNC:HGNC:29293
    See related
    Ensembl:ENSG00000275832 MIM:610590; AllianceGenome:HGNC:29293
    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
    The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form. GTPase-activating proteins, such as ARHGAP23, inactivate RHO family proteins by stimulating their hydrolysis of GTP (Katoh and Katoh, 2004 [PubMed 15254754]).[supplied by OMIM, Mar 2008]
    Expression
    Broad expression in skin (RPKM 13.7), brain (RPKM 13.2) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARHGAP23 in Genome Data Viewer
    Location:
    17q12
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (38419275..38512385)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (39282325..39375417)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (36584708..36668621)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903991 Neighboring gene suppressor of cytokine signaling 7 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36570079-36571013 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr17:36571014-36571949 and GRCh37_chr17:36571950-36572884 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36574173-36574722 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36574723-36575272 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36575776-36576704 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36577634-36578562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36580149-36580794 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36584872-36585780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36585781-36586688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36592213-36592713 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36597014-36597516 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36605280-36606221 Neighboring gene uncharacterized LOC101929494 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36607163-36608104 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:36614287-36614452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36616590-36617218 Neighboring gene Sharpr-MPRA regulatory region 7659 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36621073-36621864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36625516-36626152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36628374-36628874 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36640731-36641252 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:36649991-36650490 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:36649489-36649990 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36655308-36655834 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36655835-36656359 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36665002-36665819 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36665820-36666636 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:36706969-36707178 Neighboring gene SRC kinase signaling inhibitor 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36717306-36717859 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36718413-36718965 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36718966-36719517 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36719518-36720070 Neighboring gene uncharacterized LOC105371761 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36720624-36721176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36721177-36721728 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36722271-36722779 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36734639-36735366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36735367-36736094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36748159-36748740 Neighboring gene uncharacterized LOC124903992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36749033-36749534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36749535-36750034

    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. Identification and characterization of human ARHGAP23 gene in silico. Katoh M, et al. Int J Oncol, 2004 Aug. PMID 15254754
    2. GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. Pharoah PD, et al. Nat Genet, 2013 Apr. PMID 23535730, Free PMC Article
    3. 14-3-3 proteins sequester a pool of soluble TRIM32 ubiquitin ligase to repress autoubiquitylation and cytoplasmic body formation. Ichimura T, et al. J Cell Sci, 2013 May 1. PMID 23444366
    4. Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes. Choy KW, et al. Physiol Genomics, 2006 Mar 13. PMID 16368877
    5. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Zody MC, et al. Nature, 2006 Apr 20. PMID 16625196, Free PMC Article

    See all (25) 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
    GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1501

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    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 cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    rho GTPase-activating protein 23
    Names
    rho-type GTPase-activating protein 23

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001199417.2 → NP_001186346.1  rho GTPase-activating protein 23

      See identical proteins and their annotated locations for NP_001186346.1

      Status: VALIDATED

      Source sequence(s)
      AC244153
      Consensus CDS
      CCDS56027.1
      UniProtKB/Swiss-Prot
      Q9P227
      UniProtKB/TrEMBL
      A0A2X0SFL7
      Related
      ENSP00000481862.1, ENST00000622683.5
      Conserved Domains (4) summary
      cd00992
      Location:41 → 151
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd04395
      Location:902 → 1097
      RhoGAP_ARHGAP21; RhoGAP_ARHGAP21: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP21-like proteins. ArhGAP21 is a multi-domain protein, containing RhoGAP, PH and PDZ domains, and is believed to play a role in the organization of the ...
      cd01253
      Location:690 → 810
      PH_ARHGAP21-like; ARHGAP21 and related proteins pleckstrin homology (PH) domain
      pfam00169
      Location:689 → 808
      PH; PH domain

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      38419275..38512385
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006721991.2 → XP_006722054.1  rho GTPase-activating protein 23 isoform X2

      See identical proteins and their annotated locations for XP_006722054.1

      UniProtKB/TrEMBL
      A0A2X0SFL7, A0A9L9PXQ2
      Related
      ENSP00000516484.1, ENST00000633445.2
      Conserved Domains (4) summary
      cd00992
      Location:23 → 133
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd04395
      Location:884 → 1079
      RhoGAP_ARHGAP21; RhoGAP_ARHGAP21: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP21-like proteins. ArhGAP21 is a multi-domain protein, containing RhoGAP, PH and PDZ domains, and is believed to play a role in the organization of the ...
      cd01253
      Location:672 → 792
      PH_ARHGAP21-like; ARHGAP21 and related proteins pleckstrin homology (PH) domain
      pfam00169
      Location:671 → 790
      PH; PH domain

    2. XM_006721993.4 → XP_006722056.1  rho GTPase-activating protein 23 isoform X6

      See identical proteins and their annotated locations for XP_006722056.1

      Conserved Domains (4) summary
      cd00992
      Location:41 → 151
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd04395
      Location:902 → 1097
      RhoGAP_ARHGAP21; RhoGAP_ARHGAP21: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP21-like proteins. ArhGAP21 is a multi-domain protein, containing RhoGAP, PH and PDZ domains, and is believed to play a role in the organization of the ...
      cd01253
      Location:690 → 810
      PH_ARHGAP21-like; ARHGAP21 and related proteins pleckstrin homology (PH) domain
      pfam00169
      Location:689 → 808
      PH; PH domain

    3. XM_006721992.4 → XP_006722055.1  rho GTPase-activating protein 23 isoform X3

      See identical proteins and their annotated locations for XP_006722055.1

      UniProtKB/TrEMBL
      A0A2X0SFL7
      Conserved Domains (3) summary
      cd00992
      Location:41 → 151
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd04395
      Location:819 → 1014
      RhoGAP_ARHGAP21; RhoGAP_ARHGAP21: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP21-like proteins. ArhGAP21 is a multi-domain protein, containing RhoGAP, PH and PDZ domains, and is believed to play a role in the organization of the ...
      cl17171
      Location:590 → 727
      PH-like; Pleckstrin homology-like domain

    4. XM_011525076.3 → XP_011523378.1  rho GTPase-activating protein 23 isoform X7

      See identical proteins and their annotated locations for XP_011523378.1

      Related
      ENSP00000482992.1, ENST00000620417.4
      Conserved Domains (4) summary
      cd00992
      Location:41 → 151
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd04395
      Location:902 → 1097
      RhoGAP_ARHGAP21; RhoGAP_ARHGAP21: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP21-like proteins. ArhGAP21 is a multi-domain protein, containing RhoGAP, PH and PDZ domains, and is believed to play a role in the organization of the ...
      cd01253
      Location:690 → 810
      PH_ARHGAP21-like; ARHGAP21 and related proteins pleckstrin homology (PH) domain
      pfam00169
      Location:689 → 808
      PH; PH domain

    5. XM_011525077.3 → XP_011523379.1  rho GTPase-activating protein 23 isoform X8

      See identical proteins and their annotated locations for XP_011523379.1

      Conserved Domains (4) summary
      cd00992
      Location:41 → 151
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd04395
      Location:902 → 1097
      RhoGAP_ARHGAP21; RhoGAP_ARHGAP21: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP21-like proteins. ArhGAP21 is a multi-domain protein, containing RhoGAP, PH and PDZ domains, and is believed to play a role in the organization of the ...
      cd01253
      Location:690 → 810
      PH_ARHGAP21-like; ARHGAP21 and related proteins pleckstrin homology (PH) domain
      pfam00169
      Location:689 → 808
      PH; PH domain

    6. XM_047436477.1 → XP_047292433.1  rho GTPase-activating protein 23 isoform X9

    7. XM_011525074.3 → XP_011523376.1  rho GTPase-activating protein 23 isoform X4

      See identical proteins and their annotated locations for XP_011523376.1

      UniProtKB/TrEMBL
      A0A2X0SFL7
      Related
      ENSP00000516485.1, ENST00000616767.2
      Conserved Domains (4) summary
      PHA03247
      Location:77 → 499
      PHA03247; large tegument protein UL36; Provisional
      cd00992
      Location:4 → 57
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd04395
      Location:808 → 1003
      RhoGAP_ARHGAP21; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP21-like proteins. ArhGAP21 is a multi-domain protein, containing RhoGAP, PH and PDZ domains, and is believed to play a role in the organization of the cell-cell junction ...
      cd01253
      Location:596 → 716
      PH_ARHGAP21-like; ARHGAP21 and related proteins pleckstrin homology (PH) domain

    8. XM_011525073.2 → XP_011523375.1  rho GTPase-activating protein 23 isoform X1

      See identical proteins and their annotated locations for XP_011523375.1

      UniProtKB/TrEMBL
      A0A2X0SFL7
      Conserved Domains (4) summary
      cd00992
      Location:26 → 136
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd04395
      Location:887 → 1082
      RhoGAP_ARHGAP21; RhoGAP_ARHGAP21: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP21-like proteins. ArhGAP21 is a multi-domain protein, containing RhoGAP, PH and PDZ domains, and is believed to play a role in the organization of the ...
      cd01253
      Location:675 → 795
      PH_ARHGAP21-like; ARHGAP21 and related proteins pleckstrin homology (PH) domain
      pfam00169
      Location:674 → 793
      PH; PH domain

    9. XM_011525075.3 → XP_011523377.1  rho GTPase-activating protein 23 isoform X5

      See identical proteins and their annotated locations for XP_011523377.1

      UniProtKB/TrEMBL
      A0A2X0SFL7
      Conserved Domains (3) summary
      cd04395
      Location:696 → 891
      RhoGAP_ARHGAP21; RhoGAP_ARHGAP21: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP21-like proteins. ArhGAP21 is a multi-domain protein, containing RhoGAP, PH and PDZ domains, and is believed to play a role in the organization of the ...
      cd01253
      Location:484 → 604
      PH_ARHGAP21-like; ARHGAP21 and related proteins pleckstrin homology (PH) domain
      pfam00169
      Location:483 → 602
      PH; PH domain

    RNA

    1. XR_429909.4 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187614.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      2454590..2547687
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329303.1 → XP_054185278.1  rho GTPase-activating protein 23 isoform X2

      UniProtKB/TrEMBL
      A0A2X0SFL7, A0A9L9PXQ2

    2. XM_054329307.1 → XP_054185282.1  rho GTPase-activating protein 23 isoform X6

    3. XM_054329304.1 → XP_054185279.1  rho GTPase-activating protein 23 isoform X3

      UniProtKB/TrEMBL
      A0A2X0SFL7

    4. XM_054329308.1 → XP_054185283.1  rho GTPase-activating protein 23 isoform X7

    5. XM_054329310.1 → XP_054185285.1  rho GTPase-activating protein 23 isoform X9

    6. XM_054329309.1 → XP_054185284.1  rho GTPase-activating protein 23 isoform X8

    7. XM_054329305.1 → XP_054185280.1  rho GTPase-activating protein 23 isoform X4

      UniProtKB/TrEMBL
      A0A2X0SFL7

    8. XM_054329302.1 → XP_054185277.1  rho GTPase-activating protein 23 isoform X1

      UniProtKB/TrEMBL
      A0A2X0SFL7

    9. XM_054329306.1 → XP_054185281.1  rho GTPase-activating protein 23 isoform X5

      UniProtKB/TrEMBL
      A0A2X0SFL7

    RNA

    1. XR_008485634.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      39282325..39375417
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316779.1 → XP_054172754.1  rho GTPase-activating protein 23 isoform X2

      UniProtKB/TrEMBL
      A0A2X0SFL7, A0A9L9PXQ2

    2. XM_054316783.1 → XP_054172758.1  rho GTPase-activating protein 23 isoform X6

    3. XM_054316780.1 → XP_054172755.1  rho GTPase-activating protein 23 isoform X3

      UniProtKB/TrEMBL
      A0A2X0SFL7

    4. XM_054316784.1 → XP_054172759.1  rho GTPase-activating protein 23 isoform X7

    5. XM_054316786.1 → XP_054172761.1  rho GTPase-activating protein 23 isoform X9

    6. XM_054316785.1 → XP_054172760.1  rho GTPase-activating protein 23 isoform X8

    7. XM_054316781.1 → XP_054172756.1  rho GTPase-activating protein 23 isoform X4

      UniProtKB/TrEMBL
      A0A2X0SFL7

    8. XM_054316778.1 → XP_054172753.1  rho GTPase-activating protein 23 isoform X1

      UniProtKB/TrEMBL
      A0A2X0SFL7

    9. XM_054316782.1 → XP_054172757.1  rho GTPase-activating protein 23 isoform X5

      UniProtKB/TrEMBL
      A0A2X0SFL7

    RNA

    1. XR_008484866.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_020876.1: Suppressed sequence

      Description
      NM_020876.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate, and the CDS is partial on the 5' end.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P227.2 GenPept UniProtKB/Swiss-Prot:Q9P227

    Gene LinkOut

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

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