GARIN5A (golgi associated RAB2 interactor 5A)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 112703
Gene name Golgi associated RAB2 interactor 5A
Gene symbol GARIN5A
Synonyms (NCBI Gene)
FAM71E1GARIL5
Chromosome 19
Chromosome location 19q13.33
miRNA miRNA information provided by mirtarbase database.
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT026733 hsa-miR-192-5p Microarray 19074876
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (5)
GO ID Ontology Definition Evidence Reference
GO:0005794 Component Golgi apparatus IEA
GO:0005794 Component Golgi apparatus ISS
GO:0032481 Process Positive regulation of type I interferon production ISS
GO:0045087 Process Innate immune response ISS
GO:0051607 Process Defense response to virus ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
619890 25107 ENSG00000142530
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6IPT2
Protein name Golgi-associated RAB2 interactor protein 5A
Protein function RAB2B effector protein which promotes cytosolic DNA-induced innate immune responses. Regulates IFN responses against DNA viruses by regulating the CGAS-STING signaling axis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12480 DUF3699 175 → 241 Protein of unknown function (DUF3699) Family
Sequence 
MGPPLWPDLQEPPPPGTSSQIRSPLLCDVIKPAPHHDVTVRVVPPPRFLPLLLRPLPSDG
DIAMRRDRGPKPALGGAGEVEPGGMAASPTGRPRRLQRYLQSGEFDQFRDFPIFESNFVQ
FCPDIYPAPTSDLWPQVTRLGEVANEVTMGVAASSPALELPDLLLLAGPAKENGHLQLFG
LFPLKFVQLFVHDKSRCQLEVKLNTSRTFYLQLRAPLKTRDREFGQWVRLLYRLRFLSAS
AVPFTQE
Sequence length 247
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (1)
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
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Lupus Erythematosus Systemic Systemic lupus erythematosus Pubtator 29884787 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only