Gene Gene information from NCBI Gene database.
Entrez ID 8884
Gene name Solute carrier family 5 member 6
Gene symbol SLC5A6
Synonyms (NCBI Gene)
COMNBNERIBSMVTSMVTDhSMVT
Chromosome 2
Chromosome location 2p23.3
miRNA miRNA information provided by mirtarbase database.
544
miRTarBase ID miRNA Experiments Reference
MIRT027678 hsa-miR-98-5p Microarray 19088304
MIRT030522 hsa-miR-24-3p Microarray 19748357
MIRT046193 hsa-miR-27b-3p CLASH 23622248
MIRT501119 hsa-let-7c-5p PAR-CLIP 21572407
MIRT501118 hsa-let-7e-5p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
52
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21183659
GO:0005886 Component Plasma membrane IDA 25809983, 27904971, 28052864
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS 9516450
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604024 11041 ENSG00000138074
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y289
Protein name Sodium-dependent multivitamin transporter (Na(+)-dependent multivitamin transporter) (hSMVT) (Solute carrier family 5 member 6)
Protein function Sodium-dependent multivitamin transporter that mediates the electrogenic transport of pantothenate, biotin, lipoate and iodide (PubMed:10329687, PubMed:15561972, PubMed:19211916, PubMed:20980265, PubMed:21570947, PubMed:22015582, PubMed:25809983
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00474 SSF 59 463 Sodium:solute symporter family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in microvessels of the brain (at protein level) (PubMed:25809983). Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, and pancreas (PubMed:10329687). {ECO:0000269|PubMed:10329687, ECO:0000269|PubMed:25
Sequence
Sequence length 635
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Vitamin digestion and absorption   Biotin transport and metabolism
Vitamin B5 (pantothenate) metabolism
Transport of vitamins, nucleosides, and related molecules
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cervical cancer Pathogenic rs1558510783 RCV005926571
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodegeneration, infantile-onset, biotin-responsive Likely pathogenic; Pathogenic rs2147992303, rs565711489, rs774193816, rs1274201044, rs2466102230, rs2466022549, rs749980819, rs370950187, rs994218778, rs188933728 RCV001834557
RCV001837072
RCV001837073
RCV002471294
RCV003238165
View all (5 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peripheral motor neuropathy, childhood-onset, biotin-responsive Likely pathogenic; Pathogenic rs2147992303, rs774193816, rs994218778 RCV002259403
RCV003333182
RCV002253789
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC5A6-related disorder Likely pathogenic rs774193816 RCV005863491
★★★★☆
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
Clear cell carcinoma of kidney Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GENETIC NEURODEGENERATIVE DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS 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
Arthritis, Gouty Gouty arthritis GWASDB_DG 23263486
★☆☆☆☆
Found in Text Mining only
Bone Diseases Metabolic Bone disease Pubtator 35013551, 35217562 Associate
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 27904971 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23142496
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 35263602 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 37304236 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 21498711
★☆☆☆☆
Found in Text Mining only
Cerebral atrophy Cerebral Atrophy GENOMICS_ENGLAND_DG 29669219
★☆☆☆☆
Found in Text Mining only
Cerebral Palsy Cerebral palsy Pubtator 27904971, 35013551 Associate
★☆☆☆☆
Found in Text Mining only
Choriocarcinoma Choriocarcinoma BEFREE 14991266
★☆☆☆☆
Found in Text Mining only