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

Gene ID: 2665, updated on 7-Apr-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
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Genomic context

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Location:
10p15.1
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (5765223..5813434, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (5769012..5817195, complement)
105.20220307 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
  • 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. GDI2 is a target of paclitaxel that affects tumorigenesis of prostate cancer via the p75NTR signaling pathway. Liu C, et al. Biochem Biophys Res Commun, 2021 Jul 12. PMID 34051575
  5. 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

See all (117) 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
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm TAS
Traceable Author Statement
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, ENST00000380181.7
    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_2023_10

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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