Gene Gene information from NCBI Gene database.
Entrez ID 2665
Gene name GDP dissociation inhibitor 2
Gene symbol GDI2
Synonyms (NCBI Gene)
HEL-S-46eRABGDIB
Chromosome 10
Chromosome location 10p15.1
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
miRNA miRNA information provided by mirtarbase database.
447
miRTarBase ID miRNA Experiments Reference
MIRT051332 hsa-miR-15a-5p CLASH 23622248
MIRT050494 hsa-miR-20a-5p CLASH 23622248
MIRT047863 hsa-miR-30c-5p CLASH 23622248
MIRT046604 hsa-miR-222-3p CLASH 23622248
MIRT043759 hsa-miR-328-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22681889
GO:0005092 Function GDP-dissociation inhibitor activity IEA
GO:0005093 Function Rab GDP-dissociation inhibitor activity IBA
GO:0005093 Function Rab GDP-dissociation inhibitor activity IEA
GO:0005093 Function Rab GDP-dissociation inhibitor activity TAS 7543319
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600767 4227 ENSG00000057608
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P50395
Protein name Rab GDP dissociation inhibitor beta (Rab GDI beta) (Guanosine diphosphate dissociation inhibitor 2) (GDI-2)
Protein function GDP-dissociation inhibitor preventing the GDP to GTP exchange of most Rab proteins. By keeping these small GTPases in their inactive GDP-bound form regulates intracellular membrane trafficking (PubMed:25860027). Negatively regulates protein tran
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00996 GDI 1 436 GDP dissociation inhibitor Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:7543319}.
Sequence
Sequence length 445
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Rho GTPase cycle
Neutrophil degranulation
RAB GEFs exchange GTP for GDP on RABs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Medulloblastoma Medulloblastoma BEFREE 25059231
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 25059231
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34894398 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 25367783
★☆☆☆☆
Found in Text Mining only
Childhood Medulloblastoma Medulloblastoma BEFREE 25059231
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down Syndrome LHGDN 11771757
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Esophageal squamous cell carcinoma Pubtator 20686364 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Glioblastoma Glioblastoma Pubtator 35111402 Associate
★☆☆☆☆
Found in Text Mining only
Insulin Resistance Diabetes mellitus, type 2 Pubtator 32293066 Associate
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation BEFREE 9668174
★☆☆☆☆
Found in Text Mining only