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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
27
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Pathogenic rs1558510783 RCV005926571
Neurodegeneration, infantile-onset, biotin-responsive Likely pathogenic; Pathogenic rs2147992303, rs565711489, rs774193816, rs1274201044, rs2466102230, rs2466022549, rs749980819, rs370950187, rs994218778, rs188933728 RCV001834557
RCV001837072
RCV001837073
RCV002471294
RCV003238165
RCV003389300
RCV001251428
RCV001251429
RCV001251430
RCV001251431
Peripheral motor neuropathy, childhood-onset, biotin-responsive Likely pathogenic; Pathogenic rs2147992303, rs774193816, rs994218778 RCV002259403
RCV003333182
RCV002253789
SLC5A6-related disorder Likely pathogenic rs774193816 RCV005863491
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Likely benign rs572909622 RCV005939207
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Associate 35217562
Adenocarcinoma of Lung Associate 27294516
Biotin deficiency Associate 15623830
Bone Diseases Metabolic Associate 35013551, 35217562
Brain Diseases Associate 27904971
Carcinoma Renal Cell Associate 37304236
Cerebral Palsy Associate 27904971, 35013551
Death Associate 37391029
Dependent Personality Disorder Associate 37391029
Developmental Disabilities Associate 27904971, 35013551, 37391029