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    RGPD2 RANBP2 like and GRIP domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 729857, updated on 17-Jun-2024

    Summary

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    Official Symbol
    RGPD2provided by HGNC
    Official Full Name
    RANBP2 like and GRIP domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:32415
    See related
    Ensembl:ENSG00000185304 MIM:612705; AllianceGenome:HGNC:32415
    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
    Also known as
    RGP2; NUP358; RANBP2L2
    Summary
    Predicted to contribute to GTPase activator activity. Predicted to be involved in NLS-bearing protein import into nucleus. Predicted to be part of nuclear pore. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 17.3), placenta (RPKM 6.4) and 23 other tissues See more
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    Genomic context

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    See RGPD2 in Genome Data Viewer
    Location:
    2p11.2
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (87755960..87989818, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (87767943..88004404, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (88055479..88125315, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene NK cell activity associated lncRNA 1 Neighboring gene uncharacterized LOC101928214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:87983211-87983711 Neighboring gene ANAPC1 pseudogene 4 Neighboring gene plasminogen like B2 Neighboring gene MT-ATP6 pseudogene 28 Neighboring gene MT-ATP8 pseudogene 2 Neighboring gene NADH:ubiquinone oxidoreductase subunit B4 pseudogene 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:88302269-88302841 Neighboring gene lysine-rich coiled-coil 1 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:88302842-88303413 Neighboring gene Sharpr-MPRA regulatory region 1338 Neighboring gene small nucleolar RNA U13 Neighboring gene ANAPC1 pseudogene 5 Neighboring gene WBP1 pseudogene 2

    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. Complex genomic rearrangements lead to novel primate gene function. Ciccarelli FD, et al. Genome Res, 2005 Mar. PMID 15710750, Free PMC Article
    2. Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence. Zuo L, et al. Am J Med Genet B Neuropsychiatr Genet, 2012 Jun. PMID 22488850, Free PMC Article
    3. Unbiased Identification of trans Regulators of ADAR and A-to-I RNA Editing. Freund EC, et al. Cell Rep, 2020 May 19. PMID 32433965, Free PMC Article
    4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621
    5. ∆F508 CFTR interactome remodelling promotes rescue of cystic fibrosis. Pankow S, et al. Nature, 2015 Dec 24. PMID 26618866, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence.
    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

    • FLJ56975

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in NLS-bearing protein import into nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of nuclear pore IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    RANBP2-like and GRIP domain-containing protein 2
    Names
    Ran binding protein 2-like 2
    nucleoporin
    ran-binding protein 2-like 2
    ranBP2-like 2

    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_001078170.3 → NP_001071638.2  RANBP2-like and GRIP domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001071638.2

      Status: VALIDATED

      Source sequence(s)
      AC093616
      Consensus CDS
      CCDS42710.2
      UniProtKB/Swiss-Prot
      P0DJD1
      UniProtKB/TrEMBL
      B4DYH0
      Related
      ENSP00000381214.3, ENST00000398146.5
      Conserved Domains (8) summary
      smart00028
      Location:59 → 90
      TPR; Tetratricopeptide repeats
      COG5171
      Location:968 → 1160
      YRB1; Ran GTPase-activating protein (Ran-binding protein) [Intracellular trafficking and secretion]
      cd13177
      Location:1044 → 1160
      RanBD2_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 2
      cd14685
      Location:1341 → 1457
      RanBD3_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 3
      sd00006
      Location:58 → 88
      TPR; TPR repeat [structural motif]
      pfam01465
      Location:1698 → 1740
      GRIP; GRIP domain
      pfam13414
      Location:58 → 125
      TPR_11; TPR repeat
      pfam16704
      Location:1634 → 1694
      Rab_bind; Rab binding domain

    2. NM_001393613.1 → NP_001380542.1  RANBP2-like and GRIP domain-containing protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC093616
      UniProtKB/TrEMBL
      B4DYH0
      Conserved Domains (8) summary
      smart00028
      Location:59 → 90
      TPR; Tetratricopeptide repeats
      smart00755
      Location:1645 → 1690
      Grip; golgin-97, RanBP2alpha,Imh1p and p230/golgin-245
      COG0457
      Location:29 → 125
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      cd13177
      Location:991 → 1107
      RanBD2_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 2
      cd14685
      Location:1288 → 1404
      RanBD3_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 3
      TIGR02917
      Location:16 → 213
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:58 → 88
      TPR; TPR repeat [structural motif]
      pfam16704
      Location:1581 → 1641
      Rab_bind; Rab binding domain

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      87755960..87989818 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445734.1 → XP_047301690.1  RANBP2-like and GRIP domain-containing protein 2 isoform X2

      UniProtKB/TrEMBL
      B4DYH0

    2. XM_017004845.2 → XP_016860334.2  RANBP2-like and GRIP domain-containing protein 2 isoform X1

      UniProtKB/TrEMBL
      B4DYH0

    3. XM_047445738.1 → XP_047301694.1  RANBP2-like and GRIP domain-containing protein 2 isoform X6

      UniProtKB/TrEMBL
      B4DYH0

    4. XM_047445735.1 → XP_047301691.1  RANBP2-like and GRIP domain-containing protein 2 isoform X3

      UniProtKB/TrEMBL
      B4DYH0

    5. XM_047445737.1 → XP_047301693.1  RANBP2-like and GRIP domain-containing protein 2 isoform X5

      UniProtKB/TrEMBL
      B4DYH0

    6. XM_047445736.1 → XP_047301692.1  RANBP2-like and GRIP domain-containing protein 2 isoform X4

      UniProtKB/TrEMBL
      B4DYH0

    RNA

    1. XR_007081580.1 RNA Sequence

    2. XR_007081581.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      87767943..88004404 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343735.1 → XP_054199710.1  RANBP2-like and GRIP domain-containing protein 2 isoform X9

      UniProtKB/TrEMBL
      B4DYH0

    2. XM_054343733.1 → XP_054199708.1  RANBP2-like and GRIP domain-containing protein 2 isoform X7

      UniProtKB/TrEMBL
      B4DYH0

    3. XM_054343734.1 → XP_054199709.1  RANBP2-like and GRIP domain-containing protein 2 isoform X8

      UniProtKB/TrEMBL
      B4DYH0

    4. XM_054343738.1 → XP_054199713.1  RANBP2-like and GRIP domain-containing protein 2 isoform X12

      UniProtKB/TrEMBL
      B4DYH0

    5. XM_054343737.1 → XP_054199712.1  RANBP2-like and GRIP domain-containing protein 2 isoform X11

      UniProtKB/TrEMBL
      B4DYH0

    6. XM_054343736.1 → XP_054199711.1  RANBP2-like and GRIP domain-containing protein 2 isoform X10

      UniProtKB/TrEMBL
      B4DYH0

    RNA

    1. XR_008486505.1 RNA Sequence

    2. XR_008486506.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0DJD1.1 GenPept UniProtKB/Swiss-Prot:P0DJD1

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