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    GDI2 GDP dissociation inhibitor 2 [ Homo sapiens (human) ]

    Gene ID: 2665, updated on 3-Nov-2024

    Summary

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    Official Symbol
    GDI2provided by HGNC
    Official Full Name
    GDP dissociation inhibitor 2provided by HGNC
    Primary source
    HGNC:HGNC:4227
    See related
    Ensembl:ENSG00000057608 MIM:600767; AllianceGenome:HGNC:4227
    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
    RABGDIB; HEL-S-46e
    Summary
    GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI2 is ubiquitously expressed. The GDI2 gene contains many repetitive elements indicating that it may be prone to inversion/deletion rearrangements. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in lymph node (RPKM 104.1), appendix (RPKM 84.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GDI2 in Genome Data Viewer
    Location:
    10p15.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (5765223..5813434, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (5769012..5817195, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (5807186..5855397, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:5702971-5703707 Neighboring gene ankyrin repeat and SOCS box containing 13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2081 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2926 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2083 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2927 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2085 Neighboring gene transcription activation suppressor family member 2 Neighboring gene Sharpr-MPRA regulatory region 2494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:5793844-5794458 Neighboring gene MPRA-validated peak855 silencer Neighboring gene nuclear receptor binding factor 2 pseudogene 5 Neighboring gene uncharacterized LOC124902367 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:5854819-5855411 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:5855412-5856004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2936 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2937 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2938 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2939 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_13451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2940 Neighboring gene MPRA-validated peak856 silencer Neighboring gene tRNA-Val (anticodon TAC) 3-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2941 Neighboring gene ribosomal protein L12 pseudogene 28 Neighboring gene ankyrin repeat domain 16

    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. GDI2 is a novel diagnostic and prognostic biomarker in hepatocellular carcinoma. Zhang W, et al. Aging (Albany NY), 2021 Dec 11. PMID 34894398, Free PMC Article
    2. Pericentriolar targeting of GDP-dissociation inhibitor isoform 2. Shisheva A, et al. Eur J Cell Biol, 1995 Oct. PMID 8575461
    3. Differential intracellular localizations of GDP dissociation inhibitor isoforms. Insulin-dependent redistribution of GDP dissociation inhibitor-2 in 3T3-L1 adipocytes. Shisheva A, et al. J Biol Chem, 1994 Sep 30. PMID 7929030
    4. MicroRNA‑15b‑5p exerts its tumor repressive role via targeting GDI2: A novel insight into the pathogenesis of thyroid carcinoma. Zou J, et al. Mol Med Rep, 2020 Oct. PMID 32945458, Free PMC Article
    5. Cloning of a brain-type isoform of human Rab GDI and its expression in human neuroblastoma cell lines and tumor specimens. Nishimura N, et al. Cancer Res, 1995 Nov 15. PMID 7585614

    See all (137) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GDI2 is a novel diagnostic and prognostic biomarker in hepatocellular carcinoma.
      Title: GDI2 is a novel diagnostic and prognostic biomarker in hepatocellular carcinoma.
    2. ISGylation drives basal breast tumour progression by promoting EGFR recycling and Akt signalling.
      Title: ISGylation drives basal breast tumour progression by promoting EGFR recycling and Akt signalling.
    3. GDI2 is a target of paclitaxel that affects tumorigenesis of prostate cancer via the p75NTR signaling pathway.
      Title: GDI2 is a target of paclitaxel that affects tumorigenesis of prostate cancer via the p75NTR signaling pathway.
    4. MicroRNA15b5p exerts its tumor repressive role via targeting GDI2: A novel insight into the pathogenesis of thyroid carcinoma.
      Title: MicroRNA‑15b‑5p exerts its tumor repressive role via targeting GDI2: A novel insight into the pathogenesis of thyroid carcinoma.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    6. Reduction of nucleoside diphosphate kinase B, Rab GDP-dissociation inhibitor beta and histidine triad nucleotide-binding protein in fetal Down syndrome brain.
      Title: Reduction of nucleoside diphosphate kinase B, Rab GDP-dissociation inhibitor beta and histidine triad nucleotide-binding protein in fetal Down syndrome brain.
    7. The increased levels of cyclin I and GDI2 found to be associated with pancreatic carcinoma were further confirmed by Western blot analyses in an independent series of serum samples and/or pancreatic juice samples
      Title: Serum proteomic-based analysis of pancreatic carcinoma for the identification of potential cancer biomarkers.
    Submit: New GeneRIF Correction

    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
    Genome-wide association study identifies two susceptibility loci for osteosarcoma.
    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

    • FLJ16452, FLJ37352

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding HDA PubMed 
    enables Rab GDP-dissociation inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of protein localization to cilium IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		  
    involved_in small GTPase-mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in azurophil granule lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in focal adhesion HDA PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in secretory granule lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in vesicle HDA PubMed 

    General protein information

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    Preferred Names
    rab GDP dissociation inhibitor beta
    Names
    GDI-2
    epididymis secretory sperm binding protein Li 46e
    guanosine diphosphate dissociation inhibitor 2
    rab GDI beta
    rab GDP-dissociation inhibitor, beta

    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_001115156.2 → NP_001108628.1  rab GDP dissociation inhibitor beta isoform 2

      See identical proteins and their annotated locations for NP_001108628.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1, resulting in a shorter protein, compared to isoform 1.
      Source sequence(s)
      AK312485, BC005145
      Consensus CDS
      CCDS44352.1
      UniProtKB/TrEMBL
      B4DLV7
      Related
      ENSP00000369528.3, ENST00000380181.8
      Conserved Domains (1) summary
      cl21454
      Location:1 → 391
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    2. NM_001494.4 → NP_001485.2  rab GDP dissociation inhibitor beta isoform 1

      See identical proteins and their annotated locations for NP_001485.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK312485, BC005145
      Consensus CDS
      CCDS7071.1
      UniProtKB/Swiss-Prot
      O43928, P50395, Q5SX88, Q9UQM6
      UniProtKB/TrEMBL
      B4DLV7, Q6IAT1
      Related
      ENSP00000369538.4, ENST00000380191.9
      Conserved Domains (1) summary
      pfam00996
      Location:1 → 436
      GDI; GDP dissociation inhibitor

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      5765223..5813434 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      5769012..5817195 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P50395.2 GenPept UniProtKB/Swiss-Prot:P50395

    Gene LinkOut

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