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Aliases for GDI2 Gene

Aliases for GDI2 Gene

  • GDP Dissociation Inhibitor 2 2 3 5
  • Guanosine Diphosphate Dissociation Inhibitor 2 3 4
  • Rab GDI Beta 3 4
  • RABGDIB 3 4
  • GDI-2 3 4
  • Epididymis Secretory Sperm Binding Protein Li 46e 3
  • Rab GDP-Dissociation Inhibitor, Beta 3
  • Rab GDP Dissociation Inhibitor Beta 3
  • Rab GDP-Dissociation 2
  • HEL-S-46e 3

External Ids for GDI2 Gene

Previous GeneCards Identifiers for GDI2 Gene

  • GC10M005751
  • GC10M005957
  • GC10M005811
  • GC10M005848
  • GC10M005737

Summaries for GDI2 Gene

Entrez Gene Summary for GDI2 Gene

  • 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]

GeneCards Summary for GDI2 Gene

GDI2 (GDP Dissociation Inhibitor 2) is a Protein Coding gene. Among its related pathways are Innate Immune System and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include small GTPase binding. An important paralog of this gene is GDI1.

UniProtKB/Swiss-Prot for GDI2 Gene

  • Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them.

Gene Wiki entry for GDI2 Gene

Additional gene information for GDI2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GDI2 Gene

Genomics for GDI2 Gene

GeneHancer (GH) Regulatory Elements for GDI2 Gene

Promoters and enhancers for GDI2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I005808 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 584.8 +29.8 29823 6.9 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARNT ARID4B SIN3A YBX1 GDI2 ENSG00000272764 FAM208B FBXO18 ANKRD16 ASB13 GC10P005778
GH10I005839 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 556.3 +0.9 875 2.6 PKNOX1 RB1 MLX ARID4B KLF5 IRF4 ZNF48 ZSCAN9 RARA EGR1 GDI2 LOC105376384 FBXO18 ANKRD16 ENSG00000272764
GH10I005444 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 14.1 +394.2 394199 7 HDGF PKNOX1 CLOCK SMAD1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 NET1 LOC105376384 NRBF2P5 TUBAL3 GDI2 FBXO18 FAM208B CALML5 CALML3 CALML3-AS1
GH10I006199 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.4 -360.5 -360458 5.4 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 PFKFB3 ENSG00000213994 FBXO18 LOC105376384 FAM208B ENSG00000226647 GDI2 NRBF2P5 IL15RA GC10M006147
GH10I005642 Enhancer 1.1 Ensembl ENCODE dbSUPER 21.7 +197.1 197082 4.7 RXRA MAX EBF1 REST ATF2 ZNF48 RAD21 NR2F2 ZNF217 NONO ASB13 GDI2 FBXO18 LOC105376384 LOC102723629 FAM208B ENSG00000226647 CALML5 CALML3-AS1 ENSG00000256462
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GDI2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GDI2 gene promoter:

Genomic Locations for GDI2 Gene

Genomic Locations for GDI2 Gene
chr10:5,765,223-5,842,132
(GRCh38/hg38)
Size:
76,910 bases
Orientation:
Minus strand
chr10:5,807,186-5,884,095
(GRCh37/hg19)

Genomic View for GDI2 Gene

Genes around GDI2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GDI2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GDI2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GDI2 Gene

Proteins for GDI2 Gene

  • Protein details for GDI2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P50395-GDIB_HUMAN
    Recommended name:
    Rab GDP dissociation inhibitor beta
    Protein Accession:
    P50395
    Secondary Accessions:
    • O43928
    • Q5SX88
    • Q9UQM6

    Protein attributes for GDI2 Gene

    Size:
    445 amino acids
    Molecular mass:
    50663 Da
    Quaternary structure:
    • Interacts with RHOH.

    Alternative splice isoforms for GDI2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GDI2 Gene

Post-translational modifications for GDI2 Gene

  • Ubiquitination at posLast=142142, isoforms=2309, isoforms=2418, posLast=422422, and isoforms=2435

No data available for DME Specific Peptides for GDI2 Gene

Domains & Families for GDI2 Gene

Gene Families for GDI2 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for GDI2 Gene

Graphical View of Domain Structure for InterPro Entry

P50395

UniProtKB/Swiss-Prot:

GDIB_HUMAN :
  • Belongs to the Rab GDI family.
Family:
  • Belongs to the Rab GDI family.
genes like me logo Genes that share domains with GDI2: view

Function for GDI2 Gene

Molecular function for GDI2 Gene

GENATLAS Biochemistry:
RAB GDP-dissociation inhibitor beta,ubiquitously expressed,involved in the regulation of vesicle-mediated cellular transport between endoplasmic reticulum and Golgi
UniProtKB/Swiss-Prot Function:
Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them.

Phenotypes From GWAS Catalog for GDI2 Gene

Gene Ontology (GO) - Molecular Function for GDI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22681889
GO:0005092 GDP-dissociation inhibitor activity IEA --
GO:0005093 Rab GDP-dissociation inhibitor activity IEA --
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IPI 11809807
genes like me logo Genes that share ontologies with GDI2: view
genes like me logo Genes that share phenotypes with GDI2: view

Animal Models for GDI2 Gene

MGI Knock Outs for GDI2:
  • Gdi2 tm1b(EUCOMM)Hmgu

Clone Products

  • Addgene plasmids for GDI2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GDI2 Gene

Localization for GDI2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GDI2 Gene

Cytoplasm. Membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GDI2 gene
Compartment Confidence
extracellular 5
cytosol 5
lysosome 4
golgi apparatus 3
endoplasmic reticulum 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endosome 1

Gene Ontology (GO) - Cellular Components for GDI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm TAS,IEA 16130169
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol TAS --
GO:0005925 focal adhesion IDA,HDA 21423176
genes like me logo Genes that share ontologies with GDI2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GDI2 Gene

Pathways & Interactions for GDI2 Gene

genes like me logo Genes that share pathways with GDI2: view

Pathways by source for GDI2 Gene

Gene Ontology (GO) - Biological Process for GDI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 16130169
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with GDI2: view

No data available for SIGNOR curated interactions for GDI2 Gene

Drugs & Compounds for GDI2 Gene

(2) Drugs for GDI2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with GDI2: view

Transcripts for GDI2 Gene

Unigene Clusters for GDI2 Gene

GDP dissociation inhibitor 2:
Representative Sequences:

Clone Products

  • Addgene plasmids for GDI2

Alternative Splicing Database (ASD) splice patterns (SP) for GDI2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c · 10d ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^
SP1: - - - - -
SP2: -
SP3: -
SP4: - - - - -
SP5: - - - - - - - - -
SP6: -
SP7: - - - -
SP8: - - - -
SP9: - - - - - - -
SP10: - - - -
SP11: - - - - - - - - - - - - - - - - - -
SP12: - - -
SP13:
SP14: - - - - - -

ExUns: 17a · 17b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for GDI2 Gene

GeneLoc Exon Structure for
GDI2
ECgene alternative splicing isoforms for
GDI2

Expression for GDI2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GDI2 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GDI2 Gene



Protein tissue co-expression partners for GDI2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GDI2 Gene:

GDI2

SOURCE GeneReport for Unigene cluster for GDI2 Gene:

Hs.299055

mRNA Expression by UniProt/SwissProt for GDI2 Gene:

P50395-GDIB_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for GDI2 Gene

  • Nervous system(5)
  • Liver(4.8)
  • Kidney(4.5)
  • Pancreas(4.5)
  • Skin(4.2)
  • Intestine(4.1)
  • Lung(3.9)
  • Eye(3.4)
  • Spleen(3.3)
  • Blood(2.9)
  • Muscle(2.5)
  • Stomach(2.3)
  • Heart(2.2)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with GDI2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for GDI2 Gene

Orthologs for GDI2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GDI2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GDI2 33 34
  • 99.4 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 94 (a)
OneToMany
-- 34
  • 75 (a)
OneToMany
-- 34
  • 63 (a)
OneToMany
-- 34
  • 54 (a)
OneToMany
cow
(Bos Taurus)
Mammalia GDI2 33 34
  • 91.24 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GDI2 34
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GDI2 33 34
  • 89.36 (n)
mouse
(Mus musculus)
Mammalia Gdi2 33 16 34
  • 89.29 (n)
rat
(Rattus norvegicus)
Mammalia Gdi2 33
  • 89.06 (n)
chicken
(Gallus gallus)
Aves GDI2 33 34
  • 82.02 (n)
lizard
(Anolis carolinensis)
Reptilia GDI2 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gdi2 33
  • 79.4 (n)
Str.6286 33
African clawed frog
(Xenopus laevis)
Amphibia gdi2-prov 33
zebrafish
(Danio rerio)
Actinopterygii gdi2 33 34
  • 76.13 (n)
fruit fly
(Drosophila melanogaster)
Insecta Gdi 35 34
  • 68 (a)
worm
(Caenorhabditis elegans)
Secernentea gdi-1 35 34
  • 66 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GDI1 34
  • 54 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G09550 33
  • 60.28 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1570 33
rice
(Oryza sativa)
Liliopsida Os03g0277000 33
  • 60 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 61 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4705 33
Species where no ortholog for GDI2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GDI2 Gene

ENSEMBL:
Gene Tree for GDI2 (if available)
TreeFam:
Gene Tree for GDI2 (if available)

Paralogs for GDI2 Gene

Paralogs for GDI2 Gene

(2) SIMAP similar genes for GDI2 Gene using alignment to 9 proteins:

Pseudogenes.org Pseudogenes for GDI2 Gene

genes like me logo Genes that share paralogs with GDI2: view

Variants for GDI2 Gene

Sequence variations from dbSNP and Humsavar for GDI2 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000056388 -- 5,802,869(-) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000108169 -- 5,784,833(-) AG/ intron_variant
rs1000147074 -- 5,774,536(-) G/A intron_variant
rs1000161819 -- 5,813,680(-) G/A upstream_transcript_variant
rs1000219904 -- 5,806,749(-) CC/CCC genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GDI2 Gene

Variant ID Type Subtype PubMed ID
dgv1e49 CNV loss 18971310
esv2731840 CNV deletion 23290073
esv3622233 CNV loss 21293372
esv3622234 CNV loss 21293372
nsv1119780 CNV deletion 24896259
nsv515935 CNV gain 19592680
nsv549896 CNV loss 21841781
nsv831775 CNV loss 17160897
nsv947730 CNV duplication 23825009

Variation tolerance for GDI2 Gene

Residual Variation Intolerance Score: 54.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.57; 30.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GDI2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GDI2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GDI2 Gene

Disorders for GDI2 Gene

Additional Disease Information for GDI2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for GDI2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GDI2 Gene

Publications for GDI2 Gene

  1. The human rab GDI beta gene with long retroposon-rich introns maps to 10p15 and its pseudogene to 7p11-p13. (PMID: 9434952) Sedlacek Z … Poustka A (Mammalian genome : official journal of the International Mammalian Genome Society 1998) 2 3 4 58
  2. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. The hematopoiesis-specific GTP-binding protein RhoH is GTPase deficient and modulates activities of other Rho GTPases by an inhibitory function. (PMID: 11809807) Li X … Lim B (Molecular and cellular biology 2002) 3 4 58

Products for GDI2 Gene

Sources for GDI2 Gene

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