U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

    RGPD8 RANBP2 like and GRIP domain containing 8 [ Homo sapiens (human) ]

    Gene ID: 727851, updated on 27-Nov-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    RGPD8provided by HGNC
    Official Full Name
    RANBP2 like and GRIP domain containing 8provided by HGNC
    Primary source
    HGNC:HGNC:9849
    See related
    Ensembl:ENSG00000169629 MIM:602752; AllianceGenome:HGNC:9849
    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
    RGP8; RANBP2L1; RanBP2alpha
    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, Nov 2024]
    Expression
    Broad expression in testis (RPKM 26.7), brain (RPKM 9.2) and 25 other tissues See more
    Orthologs
    all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See RGPD8 in Genome Data Viewer
    Location:
    2q14.1
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (112368369..112433645, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (112795145..112860251, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (113125946..113191222, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene NADH:ubiquinone oxidoreductase subunit B4 pseudogene 6 Neighboring gene zinc finger CCCH-type containing 6 Neighboring gene uncharacterized LOC124906067 Neighboring gene axin 2 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:113191810-113192788 Neighboring gene vinculin/alpha-catenin family member 1, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16392 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11872 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11873 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11874 Neighboring gene tubulin tyrosine ligase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:113286172-113286672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:113286673-113287173 Neighboring gene uncharacterized LOC105373562

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Identification of a novel Ran binding protein 2 related gene (RANBP2L1) and detection of a gene cluster on human chromosome 2q11-q12. Nothwang HG, et al. Genomics, 1998 Feb 1. PMID 9480752
    2. Complex genomic rearrangements lead to novel primate gene function. Ciccarelli FD, et al. Genome Res, 2005 Mar. PMID 15710750, Free PMC Article
    3. Proximity interactions of the ubiquitin ligase Mind bomb 1 reveal a role in regulation of epithelial polarity complex proteins. Dho SE, et al. Sci Rep, 2019 Aug 28. PMID 31462741, Free PMC Article
    4. Proximity labeling of endogenous RICTOR identifies mTOR complex 2 regulation by ADP ribosylation factor ARF1. Luciano AK, et al. J Biol Chem, 2022 Oct. PMID 35973513, Free PMC Article
    5. USP7 targets XIAP for cancer progression: Establishment of a p53-independent therapeutic avenue for glioma. Saha G, et al. Oncogene, 2022 Nov. PMID 36243803

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

    Go to the top of the page Help

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

    Go to the top of the page Help

    Replication interactions

    Interaction Pubs
    Knockdown of RANBP2-like and GRIP domain containing 8 (RGPD8) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables small GTPase binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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
    		  
    part_of nuclear pore NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

    Go to the top of the page Help
    Preferred Names
    RANBP2-like and GRIP domain-containing protein 8
    Names
    RAN binding protein 2-like 1
    ran-binding protein 2-like 3
    ranBP2-like 3
    ranBP2L3

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    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_001164463.1 → NP_001157935.1  RANBP2-like and GRIP domain-containing protein 8

      See identical proteins and their annotated locations for NP_001157935.1

      Status: VALIDATED

      Source sequence(s)
      AC112246, AC115115
      Consensus CDS
      CCDS46394.1
      UniProtKB/Swiss-Prot
      O14715, Q5CZA8
      UniProtKB/TrEMBL
      A0A8Q3SIN4
      Related
      ENSP00000306637.3, ENST00000302558.8
      Conserved Domains (8) summary
      COG5171
      Location:975 → 1167
      YRB1; Ran GTPase-activating protein (Ran-binding protein) [Intracellular trafficking and secretion]
      cd13177
      Location:1051 → 1167
      RanBD2_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 2
      cd14685
      Location:1348 → 1464
      RanBD3_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 3
      sd00006
      Location:59 → 89
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:60 → 92
      TPR_1; Tetratricopeptide repeat
      pfam01465
      Location:1707 → 1749
      GRIP; GRIP domain
      pfam13414
      Location:59 → 126
      TPR_11; TPR repeat
      pfam16704
      Location:1641 → 1705
      Rab_bind; Rab binding 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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      112368369..112433645 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024453101.2 → XP_024308869.1  RANBP2-like and GRIP domain-containing protein 8 isoform X1

      UniProtKB/TrEMBL
      A0A8Q3SIN4
      Related
      ENSP00000386511.1, ENST00000409750.5
      Conserved Domains (7) summary
      COG0457
      Location:4 → 100
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      cd13177
      Location:1025 → 1141
      RanBD2_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 2
      cd14685
      Location:1322 → 1438
      RanBD3_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 3
      sd00006
      Location:33 → 63
      TPR; TPR repeat [structural motif]
      pfam16704
      Location:1615 → 1679
      Rab_bind; Rab binding domain
      pfam00515
      Location:34 → 66
      TPR_1; Tetratricopeptide repeat
      pfam01465
      Location:1680 → 1723
      GRIP; GRIP domain

    2. XM_047445676.1 → XP_047301632.1  RANBP2-like and GRIP domain-containing protein 8 isoform X5

    3. XM_005263747.6 → XP_005263804.1  RANBP2-like and GRIP domain-containing protein 8 isoform X4

      UniProtKB/TrEMBL
      A0A8Q3SIN4
      Conserved Domains (6) summary
      COG5171
      Location:975 → 1167
      YRB1; Ran GTPase-activating protein (Ran-binding protein) [Intracellular trafficking and secretion]
      cd13177
      Location:1051 → 1167
      RanBD2_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 2
      cd14685
      Location:1348 → 1464
      RanBD3_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 3
      sd00006
      Location:59 → 89
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:60 → 92
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:59 → 126
      TPR_11; TPR repeat

    4. XM_011511733.3 → XP_011510035.1  RANBP2-like and GRIP domain-containing protein 8 isoform X2

      UniProtKB/TrEMBL
      A0A8Q3SIN4
      Conserved Domains (6) summary
      COG5171
      Location:975 → 1167
      YRB1; Ran GTPase-activating protein (Ran-binding protein) [Intracellular trafficking and secretion]
      cd13177
      Location:1051 → 1167
      RanBD2_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 2
      cd14685
      Location:1348 → 1464
      RanBD3_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 3
      sd00006
      Location:59 → 89
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:60 → 92
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:59 → 126
      TPR_11; TPR repeat

    5. XM_017004825.2 → XP_016860314.1  RANBP2-like and GRIP domain-containing protein 8 isoform X3

      UniProtKB/TrEMBL
      A0A8Q3SIN4

    6. XM_017004826.3 → XP_016860315.1  RANBP2-like and GRIP domain-containing protein 8 isoform X6

      UniProtKB/TrEMBL
      F8W705
      Related
      ENSP00000327486.5, ENST00000330575.9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      112795145..112860251 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343670.1 → XP_054199645.1  RANBP2-like and GRIP domain-containing protein 8 isoform X1

    2. XM_054343674.1 → XP_054199649.1  RANBP2-like and GRIP domain-containing protein 8 isoform X5

    3. XM_054343673.1 → XP_054199648.1  RANBP2-like and GRIP domain-containing protein 8 isoform X4

    4. XM_054343671.1 → XP_054199646.1  RANBP2-like and GRIP domain-containing protein 8 isoform X2

    5. XM_054343672.1 → XP_054199647.1  RANBP2-like and GRIP domain-containing protein 8 isoform X3

    6. XM_054343675.1 → XP_054199650.1  RANBP2-like and GRIP domain-containing protein 8 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14715.2 GenPept UniProtKB/Swiss-Prot:O14715

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools