Gene Gene information from NCBI Gene database.
Entrez ID 113402
Gene name SFT2 domain containing 1
Gene symbol SFT2D1
Synonyms (NCBI Gene)
C6orf83pRGR1
Chromosome 6
Chromosome location 6q27
miRNA miRNA information provided by mirtarbase database.
142
miRTarBase ID miRNA Experiments Reference
MIRT016674 hsa-miR-425-5p Sequencing 20371350
MIRT046559 hsa-let-7g-5p CLASH 23622248
MIRT046469 hsa-miR-15b-5p CLASH 23622248
MIRT1341991 hsa-miR-122 CLIP-seq
MIRT1341992 hsa-miR-1343 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IEA
GO:0012505 Component Endomembrane system IEA
GO:0015031 Process Protein transport IEA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WV19
Protein name Vesicle transport protein SFT2A (SFT2 domain-containing protein 1) (pRGR1)
Protein function May be involved in fusion of retrograde transport vesicles derived from an endocytic compartment with the Golgi complex.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04178 Got1 38 155 Got1/Sft2-like family Family
Sequence
Sequence length 159
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
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL 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
Neuroblastoma Neuroblastoma Pubtator 31959052 Associate
★☆☆☆☆
Found in Text Mining only
Pancreatic Neoplasms Pancreatic neoplasm Pubtator 32907841 Associate
★☆☆☆☆
Found in Text Mining only