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

Gene ID: 2665, updated on 4-Nov-2018

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; Vega:OTTHUMG00000017607
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

Genomic context

See GDI2 in Genome Data Viewer
Location:
10p15.1
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (5765222..5813549, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (5807186..5855512, 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 family with sequence similarity 208 member B Neighboring gene nuclear receptor binding factor 2 pseudogene 5 Neighboring gene transfer RNA-Val (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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystem (from REACTOME)
    RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystemHuman cells have more than 60 RAB proteins that are key regulators of intracellular membrane trafficking. These small GTPases contribute to trafficking specificity by localizing to the membranes of d...
  • Rho GTPase cycle, organism-specific biosystem (from REACTOME)
    Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

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
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
RNA binding HDA PubMed 
Rab GDP-dissociation inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
small GTPase binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
neutrophil degranulation TAS
Traceable Author Statement
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
azurophil granule lumen TAS
Traceable Author Statement
more info
 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
focal adhesion HDA PubMed 
membrane IEA
Inferred from Electronic Annotation
more info
 
myelin sheath IEA
Inferred from Electronic Annotation
more info
 
secretory granule lumen TAS
Traceable Author Statement
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 
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)

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_001115156.1NP_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, DA069966
    Consensus CDS
    CCDS44352.1
    UniProtKB/Swiss-Prot
    P50395
    UniProtKB/TrEMBL
    Q6IAT1
    Related
    ENSP00000369528.3, OTTHUMP00000019011, ENST00000380181.7, OTTHUMT00000046581
    Conserved Domains (1) summary
    cl21454
    Location:1391
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  2. NM_001494.3NP_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, DA069966
    Consensus CDS
    CCDS7071.1
    UniProtKB/Swiss-Prot
    P50395
    UniProtKB/TrEMBL
    Q6IAT1
    Related
    ENSP00000369538.4, OTTHUMP00000019010, ENST00000380191.8, OTTHUMT00000046580
    Conserved Domains (1) summary
    pfam00996
    Location:1436
    GDI; GDP dissociation inhibitor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    5765222..5813549 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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