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

Gene ID: 2665, updated on 12-Sep-2021

Summary

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
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

See GDI2 in Genome Data Viewer
Location:
10p15.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (5765222..5813434, complement)
105.20201022 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 uncharacterized LOC107984199 Neighboring gene RNA, 7SL, cytoplasmic 445, pseudogene Neighboring gene ankyrin repeat and SOCS box containing 13 Neighboring gene transcription activation suppressor family member 2 Neighboring gene nuclear receptor binding factor 2 pseudogene 5 Neighboring gene tRNA-Val (anticodon TAC) 3-1 Neighboring gene ribosomal protein L12 pseudogene 28 Neighboring gene ankyrin repeat domain 16

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies two susceptibility loci for osteosarcoma.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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 protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of catalytic activity 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
PubMed 
Component Evidence Code Pubs
located_in azurophil granule lumen TAS
Traceable Author Statement
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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_001115156.2NP_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/Swiss-Prot
    P50395
    UniProtKB/TrEMBL
    Q6IAT1
    Related
    ENSP00000369528.3, ENST00000380181.7
    Conserved Domains (1) summary
    cl21454
    Location:1391
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  2. NM_001494.4NP_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
    P50395
    UniProtKB/TrEMBL
    Q6IAT1
    Related
    ENSP00000369538.4, ENST00000380191.9
    Conserved Domains (1) summary
    pfam00996
    Location:1436
    GDI; GDP dissociation inhibitor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    5765222..5813434 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017016071.2XP_016871560.1  rab GDP dissociation inhibitor beta isoform X1

    Conserved Domains (1) summary
    cl21454
    Location:1414
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
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