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Aliases for SLC6A6 Gene

Aliases for SLC6A6 Gene

  • Solute Carrier Family 6 Member 6 2 3 4 5
  • Solute Carrier Family 6 (Neurotransmitter Transporter, Taurine), Member 6 2 3
  • Solute Carrier Family 6 (Neurotransmitter Transporter), Member 6 2
  • Sodium- And Chloride-Dependent Taurine Transporter 3
  • Taurine Transporter 2
  • TAUT 3

External Ids for SLC6A6 Gene

Previous GeneCards Identifiers for SLC6A6 Gene

  • GC03P014373
  • GC03P014419
  • GC03P014444
  • GC03P014380

Summaries for SLC6A6 Gene

Entrez Gene Summary for SLC6A6 Gene

  • 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 splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

GeneCards Summary for SLC6A6 Gene

SLC6A6 (Solute Carrier Family 6 Member 6) is a Protein Coding gene. Diseases associated with SLC6A6 include Cerebral Creatine Deficiency Syndrome 2 and Cerebral Creatine Deficiency Syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Amino acid transport across the plasma membrane. Gene Ontology (GO) annotations related to this gene include neurotransmitter:sodium symporter activity and taurine transmembrane transporter activity. An important paralog of this gene is SLC6A13.

UniProtKB/Swiss-Prot for SLC6A6 Gene

  • Sodium-dependent taurine and beta-alanine transporter. Chloride ions are necessary for optimal uptake.

Gene Wiki entry for SLC6A6 Gene

Additional gene information for SLC6A6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC6A6 Gene

Genomics for SLC6A6 Gene

GeneHancer (GH) Regulatory Elements for SLC6A6 Gene

Promoters and enhancers for SLC6A6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I014401 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 581.2 +1.7 1670 5.2 HDGF PKNOX1 CLOCK ARNT ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 SLC6A6 CCDC174 NR2C2 MRPS25 XPC SH3BP5-AS1 ENSG00000228242 CAPN7 GC03P014418
GH03I014421 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 35.3 +26.9 26916 15.4 HDGF PKNOX1 CLOCK FOXA2 ZFP64 ARID4B NEUROD1 SIN3A ZNF2 IRF4 SLC6A6 CAPN7 CCDC174 XPC NR2C2 GC03P014432 GC03P014418
GH03I014450 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 26.4 +50.7 50722 5 FOXA2 ARNT ARID4B SIN3A FEZF1 GLI4 ZNF48 ZNF121 POLR2B GLIS2 SH3BP5-AS1 CCDC174 SLC6A6 CAPN7 NR2C2 ENSG00000228242 XPC METTL6 FGD5 TMEM43
GH03I014438 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 24.2 +37.9 37873 3.9 PKNOX1 SMAD1 ARNT FEZF1 ZNF2 ZNF213 FOS ZNF263 REST ZNF610 XPC CCDC174 CAPN7 SLC6A6 NR2C2 SH3BP5-AS1 TMEM43 ENSG00000228242 GC03P014432 RNU6-905P
GH03I014376 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 18.5 -24.9 -24875 2.6 BCOR MEIS2 ESRRA PKNOX1 ZMYM3 FOSL1 ZNF316 POLR2A VEZF1 TRIM24 SLC6A6 LINC01267 CCDC174 RNA5SP124
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC6A6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC6A6 gene promoter:

Genomic Locations for SLC6A6 Gene

Genomic Locations for SLC6A6 Gene
chr3:14,402,576-14,489,349
(GRCh38/hg38)
Size:
86,774 bases
Orientation:
Plus strand
chr3:14,444,076-14,530,857
(GRCh37/hg19)

Genomic View for SLC6A6 Gene

Genes around SLC6A6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC6A6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC6A6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC6A6 Gene

Proteins for SLC6A6 Gene

  • Protein details for SLC6A6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P31641-SC6A6_HUMAN
    Recommended name:
    Sodium- and chloride-dependent taurine transporter
    Protein Accession:
    P31641
    Secondary Accessions:
    • B2RNU7
    • Q9BRI2
    • Q9BXB0

    Protein attributes for SLC6A6 Gene

    Size:
    620 amino acids
    Molecular mass:
    69830 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC6A6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC6A6 Gene

Post-translational modifications for SLC6A6 Gene

  • Down-regulated upon Ser-322 phosphorylation.
  • Ubiquitination at isoforms=610
  • Glycosylation at posLast=163163, posLast=179179, and isoforms=2190

No data available for DME Specific Peptides for SLC6A6 Gene

Domains & Families for SLC6A6 Gene

Gene Families for SLC6A6 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC6A6 Gene

Suggested Antigen Peptide Sequences for SLC6A6 Gene

Graphical View of Domain Structure for InterPro Entry

P31641

UniProtKB/Swiss-Prot:

SC6A6_HUMAN :
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A6 subfamily.
Family:
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A6 subfamily.
genes like me logo Genes that share domains with SLC6A6: view

Function for SLC6A6 Gene

Molecular function for SLC6A6 Gene

GENATLAS Biochemistry:
solute carrier family 6,member A6,neurotansmitter transporter,taurine
UniProtKB/Swiss-Prot Function:
Sodium-dependent taurine and beta-alanine transporter. Chloride ions are necessary for optimal uptake.

Phenotypes From GWAS Catalog for SLC6A6 Gene

Gene Ontology (GO) - Molecular Function for SLC6A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005328 neurotransmitter:sodium symporter activity IEA --
GO:0005368 taurine transmembrane transporter activity IEA --
GO:0005369 taurine:sodium symporter activity TAS,IBA --
GO:0015171 amino acid transmembrane transporter activity TAS --
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC6A6: view
genes like me logo Genes that share phenotypes with SLC6A6: view

Animal Models for SLC6A6 Gene

MGI Knock Outs for SLC6A6:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC6A6 Gene

Localization for SLC6A6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC6A6 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC6A6 gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC6A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS 8010975
genes like me logo Genes that share ontologies with SLC6A6: view

Pathways & Interactions for SLC6A6 Gene

genes like me logo Genes that share pathways with SLC6A6: view

Interacting Proteins for SLC6A6 Gene

Selected Interacting proteins: P31641-SC6A6_HUMAN for SLC6A6 Gene via IID

Gene Ontology (GO) - Biological Process for SLC6A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003333 amino acid transmembrane transport IBA --
GO:0006520 cellular amino acid metabolic process TAS 8010975
GO:0006810 transport TAS 8010975
GO:0006836 neurotransmitter transport IEA --
GO:0006865 amino acid transport TAS --
genes like me logo Genes that share ontologies with SLC6A6: view

No data available for SIGNOR curated interactions for SLC6A6 Gene

Drugs & Compounds for SLC6A6 Gene

(9) Drugs for SLC6A6 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Taurine Approved Nutra Transporter, substrate Non-selective, endogenous glycine receptor partial agonist 31
beta-Alanine Experimental Pharma Full agonist, Agonist Endogenous glycine agonist, more selective than taurine (Cat. No. 0209) 0

(5) Additional Compounds for SLC6A6 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with SLC6A6: view

Transcripts for SLC6A6 Gene

Unigene Clusters for SLC6A6 Gene

Solute carrier family 6 (neurotransmitter transporter, taurine), member 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A6 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1: - - -
SP2: - -
SP3: -
SP4: - - -
SP5:

Relevant External Links for SLC6A6 Gene

GeneLoc Exon Structure for
SLC6A6
ECgene alternative splicing isoforms for
SLC6A6

Expression for SLC6A6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC6A6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC6A6 Gene

This gene is overexpressed in Whole Blood (x13.0).

Protein differential expression in normal tissues from HIPED for SLC6A6 Gene

This gene is overexpressed in Nasal epithelium (58.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC6A6 Gene



Protein tissue co-expression partners for SLC6A6 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC6A6 Gene:

SLC6A6

SOURCE GeneReport for Unigene cluster for SLC6A6 Gene:

Hs.529488

mRNA Expression by UniProt/SwissProt for SLC6A6 Gene:

P31641-SC6A6_HUMAN
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.

Evidence on tissue expression from TISSUES for SLC6A6 Gene

  • Eye(4.4)
  • Nervous system(4.4)
  • Blood(4.3)
  • Thyroid gland(4.1)
  • Muscle(2.3)
  • Heart(2.2)
  • Kidney(2.2)
  • Intestine(2)
genes like me logo Genes that share expression patterns with SLC6A6: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC6A6 Gene

Orthologs for SLC6A6 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC6A6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC6A6 33 34
  • 99.35 (n)
dog
(Canis familiaris)
Mammalia SLC6A6 33 34
  • 91.18 (n)
rat
(Rattus norvegicus)
Mammalia Slc6a6 33
  • 90.27 (n)
mouse
(Mus musculus)
Mammalia Slc6a6 33 16 34
  • 90.16 (n)
cow
(Bos Taurus)
Mammalia SLC6A6 33 34
  • 88.6 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC6A6 34
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC6A6 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC6A6 33 34
  • 81.22 (n)
lizard
(Anolis carolinensis)
Reptilia SLC6A6 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc6a6 33
  • 77.65 (n)
zebrafish
(Danio rerio)
Actinopterygii slc6a6a 34
  • 78 (a)
OneToMany
slc6a6b 33 34
  • 75.43 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1732 35 34
  • 54 (a)
ine 35
  • 42 (a)
CG1698 35
  • 38 (a)
CG10804 35
  • 36 (a)
worm
(Caenorhabditis elegans)
Secernentea snf-11 35 34
  • 48 (a)
snf-3 35
  • 40 (a)
snf-12 35
  • 32 (a)
snf-5 35
  • 30 (a)
snf-8 35
  • 24 (a)
snf-1 35
  • 23 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 62 (a)
OneToOne
Species where no ortholog for SLC6A6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC6A6 Gene

ENSEMBL:
Gene Tree for SLC6A6 (if available)
TreeFam:
Gene Tree for SLC6A6 (if available)

Paralogs for SLC6A6 Gene

Pseudogenes.org Pseudogenes for SLC6A6 Gene

genes like me logo Genes that share paralogs with SLC6A6: view

Variants for SLC6A6 Gene

Sequence variations from dbSNP and Humsavar for SLC6A6 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000003700 -- 14,486,907(+) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000035329 -- 14,416,299(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000041706 -- 14,412,538(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000054048 -- 14,448,918(+) A/T genic_downstream_transcript_variant, intron_variant
rs1000074873 -- 14,415,318(+) A/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC6A6 Gene

Variant ID Type Subtype PubMed ID
esv2724945 CNV deletion 23290073
esv2724957 CNV deletion 23290073
esv2724958 CNV deletion 23290073
nsv1114355 CNV deletion 24896259
nsv3712 CNV insertion 18451855
nsv472691 CNV novel sequence insertion 20440878
nsv834619 CNV gain+loss 17160897

Variation tolerance for SLC6A6 Gene

Residual Variation Intolerance Score: 26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.77; 33.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC6A6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC6A6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC6A6 Gene

Disorders for SLC6A6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SLC6A6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cerebral creatine deficiency syndrome 2
  • ccds2
cerebral creatine deficiency syndrome
gestational choriocarcinoma
  • gestational chorionepithelioma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC6A6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC6A6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC6A6 Gene

Publications for SLC6A6 Gene

  1. Functional characterization and chromosomal localization of a cloned taurine transporter from human placenta. (PMID: 8010975) Ramamoorthy S … Ganapathy V (The Biochemical journal 1994) 2 3 4 58
  2. Cloning of the human taurine transporter and characterization of taurine uptake in thyroid cells. (PMID: 8382624) Jhiang SM … Mazzaferri EL (FEBS letters 1993) 2 3 4 58
  3. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PMID: 20424473) Yokoyama K … Hosoya T (Nephron. Clinical practice 2010) 3 44 58
  4. A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. (PMID: 19734545) Need AC … Goldstein DB (Human molecular genetics 2009) 3 44 58
  5. Oxidative stress and dysregulation of the taurine transporter in high-glucose-exposed human Schwann cells: implications for pathogenesis of diabetic neuropathy. (PMID: 19602579) Askwith T … Stevens MJ (American journal of physiology. Endocrinology and metabolism 2009) 3 22 58

Products for SLC6A6 Gene

Sources for SLC6A6 Gene

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