Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8884
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 5 member 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC5A6
Synonyms (NCBI Gene) Gene synonyms aliases
COMNB, NERIB, SMVT, SMVTD, hSMVT
Disease Acronyms (UniProt) Disease acronyms from UniProt database
COMNB, SMVTD
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p23.3
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005886 Component Plasma membrane IDA 25809983
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane TAS 9516450
GO:0006768 Process Biotin metabolic process TAS
GO:0006814 Process Sodium ion transport IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604024 11041 ENSG00000138074
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
27904971, 29669219
Developmental regression Developmental regression rs1224421127 29669219
Epilepsy Epilepsy rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670
View all (165 more)
27904971
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
29669219
Unknown
Disease term Disease name Evidence References Source
Neurodegenerative Disorders inherited neurodegenerative disorder GenCC
Metabolic Syndrome Metabolic Syndrome GWAS
Uterine Fibroids Uterine Fibroids GWAS
Associations from Text Mining
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