Gene Gene information from NCBI Gene database.
Entrez ID 161142
Gene name Golgi associated RAB2 interactor family member 2
Gene symbol GARIN2
Synonyms (NCBI Gene)
C14orf54FAM71DGARI-L1GARI-L2
Chromosome 14
Chromosome location 14q23.3
miRNA miRNA information provided by mirtarbase database.
3
miRTarBase ID miRNA Experiments Reference
MIRT986835 hsa-miR-1238 CLIP-seq
MIRT986836 hsa-miR-3124-3p CLIP-seq
MIRT986837 hsa-miR-4652-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0005929 Component Cilium IEA
GO:0030317 Process Flagellated sperm motility ISS
GO:0031514 Component Motile cilium IEA
GO:0042995 Component Cell projection IEA
GO:0097225 Component Sperm midpiece ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619898 20101 ENSG00000172717
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N9W8
Protein name Golgi-associated RAB2 interactor protein 2
Protein function Seems to play a role in sperm motility.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12480 DUF3699 115 185 Protein of unknown function (DUF3699) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in spermatozoa (at protein level). {ECO:0000269|PubMed:29025071}.
Sequence
MKKNTSKTTMRINKQDALCTPHSHDPRDLQNMLDGGEYAPFVSPPMLESNFIQVNRRGES
IYLHNRANWVTVGICFSSSTHKIPNVMLLAHLTPGAQKDTETLFKSLLTSPPAEKLVLTR
FLPLQFVTLSVHDAENMSLKVKLVSGRAYYLQLCTSAYKQDTLFSQWVALISLLNQEKAK
VSKVS
EVSSLSGITNSTDITGSMDVTDVTTFTAILTPYMYAGTGPEHVRDSIDFPEFTDI
TDITDVTDLPENEVPEVPDVRIVTEVIEVREATEVTDSSDITNCSGVTVVFENNDLIRAK
QEEKEKLKNILKPGCLQDTKSKSELKESSKHVTISNITLTFEGKRYFQTTLTPVESEANT
SKEMKDKTSEEKMPDFQSTALKAEESRSLRTESNTSVLSPHIKSPSNFLKLVPHLSAPFS
RE
Sequence length 422
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
CHRONIC RHINOSINUSITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SINUSITIS 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
Asthenozoospermia Asthenozoospermia BEFREE 29025071
★☆☆☆☆
Found in Text Mining only