GARIN1B (golgi associated RAB2 interactor 1B)

Download as csv Download as pdf
Log in to bookmark this gene

Bookmark This Gene

Gene Gene information from NCBI Gene database.
Download as csvDownload as pdf
Entrez ID 84691
Gene name Golgi associated RAB2 interactor 1B
Gene symbol GARIN1B
Synonyms (NCBI Gene)
FAM137AFAM71F1GARI-L1GARIL1NYD-SP18
Chromosome 7
Chromosome location 7q32.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
Download as csvDownload as pdf
GO ID Ontology Definition Evidence Reference
GO:0001675 Process Acrosome assembly ISS
GO:0005515 Function Protein binding IPI 32296183
GO:0005794 Component Golgi apparatus IEA
GO:0005794 Component Golgi apparatus ISS
GO:0007340 Process Acrosome reaction ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Download as csvDownload as pdf
MIM HGNC e!Ensembl
619905 30704 ENSG00000135248
Protein Protein information from UniProt database.
Download as csvDownload as pdf
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96KD3
Protein name Golgi-associated RAB2 interactor protein 1B (Testis development protein NYD-SP18)
Protein function RAB2B effector protein required for accurate acrosome formation and normal male fertility. In complex with RAB2A/RAB2B, seems to suppress excessive vesicle trafficking during acrosome formation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12480 DUF3699 140 → 208 Protein of unknown function (DUF3699) Family
Sequence 
MLSSFPHRKTWRKSKKTVKVTRSYPTFPSLNAWEEFRGLLPVDGEPNPGAGLGVEEGLLC
RVVHSPEFNLFLDSVVFESNFIQVKRGRNWRDVYKASNTMALGVTSSVPCLPLPNILLMA
SVKWHQGQNQTWNRPSIAPNIFLKRILPLRFVELQVCDHYQRILQLRTVTEKIYYLKLHP
DHPETVFHFWIRLVQILQKGLSITTKDPRILVTHCLVPKNCSSPSGDSKLVQKKLQASQP
SESLIQLMTKGESEALSQIFADLHQQNQLSFRSSRKVETNKNSSGKDSSREDSIPCTCDL
RWRASFTYGEWERENPSGLQPLSLLSTLAASTGPQLAPPIGNSI
Sequence length 344
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Download as csvDownload as pdf
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 Reference Evidence Score
Hepatocellular carcinoma Likely benign ClinVar —
★★★★★
★★☆☆☆
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
Azoospermia Nonobstructive Nonobstructive azoospermia Pubtator 24012201 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Obesity Obesity BEFREE 18317470, 27237450, 30341978
★★★★★
★☆☆☆☆
Found in Text Mining only
Obesity Obesity Pubtator 18317470, 26849538 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for GARIN1B.

No additional diseases found yet through genes similar to GARIN1B.