Gene Gene information from NCBI Gene database.
Entrez ID 149647
Gene name Golgi associated RAB2 interactor family member 4
Gene symbol GARIN4
Synonyms (NCBI Gene)
FAM71AGARI-L4GARIL4
Chromosome 1
Chromosome location 1q32.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0000902 Process Cell morphogenesis IEA
GO:0005515 Function Protein binding IPI 26209634, 32296183
GO:0005634 Component Nucleus HDA 21630459
GO:0005794 Component Golgi apparatus IDA 26209634
GO:0005794 Component Golgi apparatus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619852 26541 ENSG00000162771
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IYT1
Protein name Golgi-associated RAB2 interactor protein 4 (Golgi-associated Rab2B interactor-like 4) (GARI-L4) (GARI-like 4)
Protein function RAB2B effector protein required for the compacted Golgi morphology, probably through interaction with small GTPase RAB2B.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12480 DUF3699 115 184 Protein of unknown function (DUF3699) Family
Sequence
MNADFLLPYYTAQSGSSMSMFNTTMGKLQRQLYKGEYDIFKYAPIFESDFIQITKRGEVI
DVHNRVRMVTMGIARTSPILPLPDVMLLARPATGCEEYAGHGQATKRKKRKAAKNLELTR
LLPLRFVRISVQDHEKQQLRLKFATGRSCYLQLCPALDTRDDLFAYWEKLIYLLRPPMES
NSST
CGIPAEDMMWMPVFQEDRRSLGAVNLQGKGDQDQVSIQSLHMVSEVCGATSAAYAG
GEGLQNDFNKPTNVLNASIPKTSTELAEEPATGGIKEAAAAGAAAGAATGTVAGALSVAA
ANSAPGQVSAAIAGAATIGAGGNKGNMALAGTASMAPNSTKVAVAGAAGKSSEHVSSASM
SLSREGSVSLAIAGVVLTSRTAAEADMDAAAGPPVSTRQSKSSLSGQHGRERTQASAEGC
KEGRERREKDRALGRSSHRRRTGESRHKTRGDKIAQKSSSRSSFSHRANRDDKKEKGCGN
PGSSRHRDSHKGVSHTPISKESRTSHKSGRSLWTTSSGSSKGLGRVSSFLRNVRANLTTK
VVGTPHGRDVNVMAKMAERSTNVAIAETAEGGQGLETVGSMTPDIMETVTFEAH
Sequence length 594
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
GILLES DE LA TOURETTE SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Oromandibular-limb hypogenesis spectrum 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
Retinitis Pigmentosa Retinitis Pigmentosa GENOMICS_ENGLAND_DG 28041643
★☆☆☆☆
Found in Text Mining only