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    AGFG2 ArfGAP with FG repeats 2 [ Homo sapiens (human) ]

    Gene ID: 3268, updated on 3-Nov-2024

    Summary

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    Official Symbol
    AGFG2provided by HGNC
    Official Full Name
    ArfGAP with FG repeats 2provided by HGNC
    Primary source
    HGNC:HGNC:5177
    See related
    Ensembl:ENSG00000106351 MIM:604019; AllianceGenome:HGNC:5177
    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
    HRBL; RABR
    Summary
    This gene is a member of the HIV-1 Rev binding protein (HRB) family and encodes a protein with one Arf-GAP zinc finger domain, several phe-gly (FG) motifs, and four asn-pro-phe (NPF) motifs. This protein interacts with Eps15 homology (EH) domains and plays a role in the Rev export pathway, which mediates the nucleocytoplasmic transfer of proteins and RNAs. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Feb 2013]
    Expression
    Broad expression in salivary gland (RPKM 40.8), skin (RPKM 8.2) and 21 other tissues See more
    Orthologs
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    Genomic context

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    See AGFG2 in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (100539203..100568220)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (101779276..101808302)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100136826..100165843)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986829 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26370 Neighboring gene RNA, 7SL, cytoplasmic 416, pseudogene Neighboring gene CRISPRi-validated cis-regulatory element chr7.3530 Neighboring gene NANOG hESC enhancer GRCh37_chr7:100136176-100136677 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18442 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18443 Neighboring gene uncharacterized LOC124901708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26371 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26373 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100166771-100167442 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18444 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100168785-100169455 Neighboring gene insulin receptor substrate 3, pseudogene Neighboring gene Sin3A associated protein 25

    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. The eps15 homology (EH) domain-based interaction between eps15 and hrb connects the molecular machinery of endocytosis to that of nucleocytosolic transport. Doria M, et al. J Cell Biol, 1999 Dec 27. PMID 10613896, Free PMC Article
    2. A protein-binding domain, EH, identified in the receptor tyrosine kinase substrate Eps15 and conserved in evolution. Wong WT, et al. Proc Natl Acad Sci U S A, 1995 Oct 10. PMID 7568168, Free PMC Article
    3. Rev-ing up post-transcriptional HIV-1 RNA expression. Yedavalli VS, et al. RNA Biol, 2011 Mar-Apr. PMID 21358275, Free PMC Article
    4. Cellular proteins and HIV-1 Rev function. Suhasini M, et al. Curr HIV Res, 2009 Jan. PMID 19149558
    5. Binding specificity and in vivo targets of the EH domain, a novel protein-protein interaction module. Salcini AE, et al. Genes Dev, 1997 Sep 1. PMID 9303539, Free PMC Article

    See all (29) 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

    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Genome-wide shRNA screening identifies HRBL, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells PubMed
    Rev rev The proposed interaction of RAB-R with Rev is based on its similarity to HIV-1 Rev binding protein (hRip/RAB) PubMed
    rev RAB-R is a proposed cellular cofactor for Rev function through a binding interaction with the Rev activation domain (amino acids 75-83) PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    arf-GAP domain and FG repeat-containing protein 2
    Names
    HIV-1 Rev-binding protein-like protein
    Rev/Rex activation domain binding protein-related
    arf-GAP domain and FG repeats-containing protein 2
    nucleoporin
    rev/Rex activation domain-binding protein related

    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_006076.5 → NP_006067.3  arf-GAP domain and FG repeat-containing protein 2

      See identical proteins and their annotated locations for NP_006067.3

      Status: REVIEWED

      Source sequence(s)
      AC069281, AK090744, AK314954, BC017329, BC047227, BF310674
      Consensus CDS
      CCDS5697.1
      UniProtKB/Swiss-Prot
      O75429, O95081, Q96AB9, Q96GL4
      UniProtKB/TrEMBL
      A4D2D6
      Related
      ENSP00000300176.4, ENST00000300176.9
      Conserved Domains (1) summary
      cl02464
      Location:40 → 147
      ArfGap; Putative GTPase activating protein for Arf

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      100539203..100568220
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005250306.3 → XP_005250363.1  arf-GAP domain and FG repeat-containing protein 2 isoform X1

      Conserved Domains (1) summary
      cl02464
      Location:40 → 147
      ArfGap; Putative GTPase activating protein for Arf

    2. XM_047420307.1 → XP_047276263.1  arf-GAP domain and FG repeat-containing protein 2 isoform X3

    3. XM_047420308.1 → XP_047276264.1  arf-GAP domain and FG repeat-containing protein 2 isoform X2

      Related
      ENSP00000388594.1, ENST00000429987.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      101779276..101808302
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358073.1 → XP_054214048.1  arf-GAP domain and FG repeat-containing protein 2 isoform X1

    2. XM_054358074.1 → XP_054214049.1  arf-GAP domain and FG repeat-containing protein 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95081.2 GenPept UniProtKB/Swiss-Prot:O95081

    Gene LinkOut

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