Gene Gene information from NCBI Gene database.
Entrez ID 6533
Gene name Solute carrier family 6 member 6
Gene symbol SLC6A6
Synonyms (NCBI Gene)
HTRDCTAUT
Chromosome 3
Chromosome location 3p25.1
Summary This gene encodes a multi-pass membrane protein that is a member of a family of sodium and chloride-ion dependent transporters. The encoded protein transports taurine and beta-alanine. There is a pseudogene for this gene on chromosome 21. Alternative spli
miRNA miRNA information provided by mirtarbase database.
413
miRTarBase ID miRNA Experiments Reference
MIRT019132 hsa-miR-335-5p Microarray 18185580
MIRT020030 hsa-miR-375 Microarray 20215506
MIRT050435 hsa-miR-23a-3p CLASH 23622248
MIRT045237 hsa-miR-186-5p CLASH 23622248
MIRT038054 hsa-miR-423-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
TP53 Repression 16734743
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
48
GO ID Ontology Definition Evidence Reference
GO:0005283 Function Amino acid:sodium symporter activity IDA 8010975
GO:0005283 Function Amino acid:sodium symporter activity IEA
GO:0005332 Function Gamma-aminobutyric acid:sodium:chloride symporter activity IBA
GO:0005332 Function Gamma-aminobutyric acid:sodium:chloride symporter activity IEA
GO:0005332 Function Gamma-aminobutyric acid:sodium:chloride symporter activity ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
186854 11052 ENSG00000131389
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P31641
Protein name Sodium- and chloride-dependent taurine transporter (Solute carrier family 6 member 6)
Protein function Mediates sodium- and chloride-dependent transport of taurine (PubMed:31345061, PubMed:31903486, PubMed:8010975, PubMed:8382624, PubMed:8654117). Mediates transport of beta-alanine (PubMed:8010975). Can also mediate transport of hypotaurine and g
PDB 9K7B , 9K7N
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00209 SNF 41 568 Sodium:neurotransmitter symporter family Family
Tissue specificity TISSUE SPECIFICITY: Expressed abundantly in placenta and skeletal muscle, at intermediate levels in heart, brain, lung, kidney and pancreas and at low levels in liver. {ECO:0000269|PubMed:8010975, ECO:0000269|PubMed:8382624}.
Sequence
Sequence length 620
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Amino acid transport across the plasma membrane
Na+/Cl- dependent neurotransmitter transporters
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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
Hypotaurinemic retinal degeneration and cardiomyopathy Likely pathogenic rs754954058, rs1700769766 RCV001449581
RCV001449580
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal degeneration Likely pathogenic rs754954058, rs1700769766 RCV001089880
RCV001089879
★★★★☆
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
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
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
Breast Carcinoma Breast Carcinoma BEFREE 31468430
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy Pubtator 31903486 Associate
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 28160779
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 28160779
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic neoplasm Pubtator 29562499 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 24781822
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 1 Diabetes mellitus, type 1 Pubtator 26955642 Stimulate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent Diabetes Mellitus BEFREE 26955642
★☆☆☆☆
Found in Text Mining only
Diabetic Neuropathies Diabetic Nephropathy BEFREE 19602579
★☆☆☆☆
Found in Text Mining only
Diabetic Neuropathies Diabetic neuropathy Pubtator 19602579 Associate
★☆☆☆☆
Found in Text Mining only