Slc6a6 Gene Detail

Summary

• Symbol
  Slc6a6
• Name
  solute carrier family 6 (neurotransmitter transporter, taurine), member 6
• Synonyms
  Taut

• Feature Type
  protein coding gene
• IDs
  MGI:98488
  NCBI Gene: 21366
• Alliance
  gene page
• Transcription Start Sites
  44 TSS
• Candidate for QTL
  2 QTL

Location &
Maps

• Sequence Map
  Chr6:91661031-91736044 bp, + strand

  From NCBI annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 6, 40.73 cM
• Mapping Data
  5 experiments

Strain
Comparison

• SNPs within 2kb
  1491 from dbSNP Build 142
• Strain Annotations
  18
• RFLP
  1

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_98488	protein coding gene	Chr6:91661031-91736047 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0031050	protein coding gene	Chr6:93290842-93369917 (+)
A/J	MGP_AJ_G0031019	protein coding gene	Chr6:89738364-89813708 (+)
AKR/J	MGP_AKRJ_G0030950	protein coding gene	Chr6:92226655-92304062 (+)
BALB/cJ	MGP_BALBcJ_G0031030	protein coding gene	Chr6:89683036-89758173 (+)
C3H/HeJ	MGP_C3HHeJ_G0030678	protein coding gene	Chr6:92129265-92209715 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0031489	protein coding gene	Chr6:95711526-95792759 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028656	protein coding gene	Chr6:87721464-87797051 (+)
CAST/EiJ	MGP_CASTEiJ_G0030137	protein coding gene	Chr6:92347942-92429556 (+)
CBA/J	MGP_CBAJ_G0030716	protein coding gene	Chr6:99270623-99359751 (+)
DBA/2J	MGP_DBA2J_G0030869	protein coding gene	Chr6:88920651-88997247 (+)
FVB/NJ	MGP_FVBNJ_G0030823	protein coding gene	Chr6:88130773-88210198 (+)
LP/J	MGP_LPJ_G0030949	protein coding gene	Chr6:93253248-93333425 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0030857	protein coding gene	Chr6:103325985-103410695 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0031516	protein coding gene	Chr6:92069013-92152634 (+)
PWK/PhJ	MGP_PWKPhJ_G0029853	protein coding gene	Chr6:87875103-87951473 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0029682	protein coding gene	Chr6:90981116-91062896 (+)
WSB/EiJ	MGP_WSBEiJ_G0030221	protein coding gene	Chr6:92545004-92629843 (+)

Homology

• Human Ortholog
  SLC6A6, solute carrier family 6 member 6

• Vertebrate Orthologs
  4

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  SLC6A6, solute carrier family 6 member 6
  
• Synonyms
  HTRDC, TAUT
• Links
  HGNC:11052

  NCBI Gene ID: 6533

  neXtProt AC: NX_P31641

  UniProt: P31641

  
  
• Chr Location
  3p25.1; chr3:14402576-14489349 (+)  GRCh38

---

• MGI Vertebrate Homology
  Slc6a6 stringent orthology
  1 human;1 mouse;1 rat;2 zebrafish
  
• HCOP
  vertebrate homology predictions: SLC6A6
• Gene Tree
  Slc6a6
  

Human Diseases

• Diseases
  1 with Slc6a6 mouse models

Human Disease

Mouse Models

retinitis pigmentosa

IDs

retinitis pigmentosa      

DOID:10584
DOID:14742
ICD10CM:H35.52
MESH:C538365
MESH:D012174
NCI:C85045
OMIM:PS268000
ORDO:791
UMLS_CUI:C0035334
UMLS_CUI:C0220701

View 1 model

Mouse Models

Human Disease Modeled: retinitis pigmentosa

Allelic Composition	Genetic Background	Reference	Phenotypes
Slc6a6tm1Dhau/Slc6a6tm1Dhau	involves: 129X1/SvJ * C57BL/6J	J:74276	View

Click on a disease name to see all genes associated with that disease.

• Mutations/Alleles
  1 with disease annotations

• References
  1 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  33 phenotypes from 4 alleles in 4 genetic backgrounds
  38 phenotype references
  

• All Mutations and Alleles
  515
• Chemically induced (ENU)
  1
• Endonuclease-mediated
  4
• Gene trapped
  507
• Spontaneous
  1
• Targeted
  2
• Genomic Mutations
  1 involving Slc6a6
• Incidental Mutations
  Mutagenetix , APF , CvDC
• Find Mice (IMSR)
  320 strains or lines available
• Comparison Matrix
  Gene Expression + Phenotype

Homozygous mutant mice have impaired vision associated with retinal degeneration. In addition to the visual defects, mutant mice exhibit reduced female fertility and decreased levels of taurine in a variety of tissues.

Gene Ontology
(GO)
Classifications

• All GO Annotations
  57
• GO References
  13

Expression

• Assay Results
  979
• Tissues
  37
• cDNA Data
  165
• Literature Summary
  9

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

• Other Mouse Links
  Allen Institute
  GENSAT
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase slc6a6
  ZFIN slc6a6b

Sequences &
Gene Models

• All Sequences
  92
• RefSeq
  27
• UniProt
  7
• CCDS
  CCDS39570.1

• Ensembl
  ENSMUSG00000030096 (Evidence)
• NCBI Gene
  21366

Representative Sequences			Length	Strain/Species
genomic	21366	NCBI Gene Model | MGI Sequence Detail	75014	C57BL/6J
transcript	NM_001410447	RefSeq | MGI Sequence Detail	6249	ZRU/MplStud
polypeptide	O35316	UniProt | EBI | MGI Sequence Detail	621	Not Applicable

Protein
Information

• UniProt
  7 Sequences
• Protein Ontology
  PR:000029748 sodium- and chloride-dependent taurine transporter
  (term hierarchy)
• InterPro Domains
  IPR000175 Sodium:neurotransmitter symporter
  IPR037272 Sodium:neurotransmitter symporter superfamily
  IPR002434 Sodium:neurotransmitter symporter, taurine
• GlyGen
  O35316 4 sites, 1 O-linked glycan (1 site)

Molecular
Reagents

• All nucleic 169

  cDNA 166

  Primer pair 3

  
  

  Microarray probesets 6

Other
Accession IDs

MGD-MRK-14721, MGI:2141371, MGI:2141762

References

• Summaries
  All 86

  Developmental Gene Expression 9

  Diseases 1

  Gene Ontology 13

  Phenotypes 38
• Earliest
  J:3475 Liu QR, et al., Cloning and expression of a cDNA encoding the transporter of taurine and beta-alanine in mouse brain. Proc Natl Acad Sci U S A. 1992 Dec 15;89(24):12145-9
• Latest
  J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Slc6a6:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr57727	Chr6:91660575-91660625 (+)	-431 bp
Tssr57728	Chr6:91661042-91661113 (+)	47 bp
Tssr57729	Chr6:91661158-91661172 (+)	134 bp
Tssr57730	Chr6:91667374-91667421 (+)	6,367 bp
Tssr57731	Chr6:91676090-91676102 (+)	15,065 bp
Tssr57732	Chr6:91676119-91676136 (+)	15,097 bp
Tssr57733	Chr6:91678630-91678643 (+)	17,606 bp
Tssr57734	Chr6:91682785-91682813 (+)	21,768 bp
Tssr57735	Chr6:91682831-91682860 (+)	21,815 bp
Tssr57737	Chr6:91698699-91698721 (+)	37,679 bp
Tssr57738	Chr6:91701911-91701925 (+)	40,887 bp
Tssr57739	Chr6:91703053-91703069 (+)	42,030 bp
Tssr57740	Chr6:91703091-91703113 (+)	42,071 bp
Tssr57741	Chr6:91703165-91703187 (+)	42,145 bp
Tssr57742	Chr6:91703188-91703210 (+)	42,168 bp
Tssr57743	Chr6:91711835-91711841 (+)	50,807 bp
Tssr57744	Chr6:91716151-91716162 (+)	55,126 bp
Tssr57745	Chr6:91716208-91716212 (+)	55,179 bp
Tssr57746	Chr6:91731950-91731961 (+)	70,925 bp
Tssr57747	Chr6:91732139-91732155 (+)	71,116 bp
Tssr57748	Chr6:91732978-91732998 (+)	71,957 bp
Tssr57749	Chr6:91733124-91733138 (+)	72,100 bp
Tssr57750	Chr6:91733474-91733501 (+)	72,457 bp
Tssr57751	Chr6:91733575-91733605 (+)	72,559 bp
Tssr57752	Chr6:91733964-91733975 (+)	72,939 bp
Tssr1939	Chr6:91734098-91734103 (+)	73,070 bp
Tssr57753	Chr6:91734800-91734810 (+)	73,774 bp
Tssr57754	Chr6:91734899-91734906 (+)	73,872 bp
Tssr57755	Chr6:91734990-91735002 (+)	73,965 bp
Tssr57756	Chr6:91735023-91735042 (+)	74,002 bp
Tssr57757	Chr6:91735060-91735067 (+)	74,033 bp
Tssr57758	Chr6:91735091-91735103 (+)	74,066 bp
Tssr57759	Chr6:91735316-91735327 (+)	74,291 bp
Tssr57760	Chr6:91735372-91735383 (+)	74,347 bp
Tssr57761	Chr6:91735389-91735400 (+)	74,364 bp
Tssr57762	Chr6:91735417-91735441 (+)	74,398 bp
Tssr57763	Chr6:91735444-91735465 (+)	74,424 bp
Tssr57764	Chr6:91735469-91735489 (+)	74,448 bp
Tssr57765	Chr6:91735509-91735522 (+)	74,485 bp
Tssr57766	Chr6:91735531-91735548 (+)	74,509 bp
Tssr57767	Chr6:91735598-91735619 (+)	74,578 bp
Tssr57768	Chr6:91735621-91735629 (+)	74,594 bp
Tssr57769	Chr6:91735813-91735829 (+)	74,790 bp
Tssr57770	Chr6:91735920-91735940 (+)	74,899 bp

Slc6a6 is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Cia3	Chr6, 52.75 cM	Chr6:113324286-113324483	J:81372	Microarray gene expression analysis was used to identify candidate genes for QTLs associated with collagen-induced arthritis. RNA from inflamed paws of collagen-treated mice were used in the microarray analysis and compared to RNA from normal paws. 223 genes showed a four-fold or greater expression difference between inflamed and normal paws. Nine of these genes are located near previously identified arthritis severity/susceptibility QTLs and may be considered for candidates. For Cia1 on mouse Chromosome 17 (18.6 cM near the H2 locus) differential expression was observed for H2-Eb1 (18.66 cM) and H2-T23 (19.73 cM). For Cia2 and Cia4 on mouse Chromosome 2 (both are located at 34 cM) differential expression was observed for Fap (36 cM) and Gcg (36 cM). For Cia3 (48.7 cM) and Cia6 (30 cM) on mouse Chromosome 6 differential expression was observed for Raf1 (52.5 cM) and Slc6a6 (38.2 cM), respectively. For Cia5 (40 cM) on mouse Chromosome 4 differential expression was observed for Ctsk (47.9 cM) and Cd53(50.5 cM). For Cia8 (40.4 cM) on mouse Chromosome 10 differential expression was observed for Bsg (42.4 cM).
Cia6	Chr6, 32.53 cM	Chr6:4464884-87403016	J:81372	Microarray gene expression analysis was used to identify candidate genes for QTLs associated with collagen-induced arthritis. RNA from inflamed paws of collagen-treated mice were used in the microarray analysis and compared to RNA from normal paws. 223 genes showed a four-fold or greater expression difference between inflamed and normal paws. Nine of these genes are located near previously identified arthritis severity/susceptibility QTLs and may be considered for candidates. For Cia1 on mouse Chromosome 17 (18.6 cM near the H2 locus) differential expression was observed for H2-Eb1 (18.66 cM) and H2-T23 (19.73 cM). For Cia2 and Cia4 on mouse Chromosome 2 (both are located at 34 cM) differential expression was observed for Fap (36 cM) and Gcg (36 cM). For Cia3 (48.7 cM) and Cia6 (30 cM) on mouse Chromosome 6 differential expression was observed for Raf1 (52.5 cM) and Slc6a6 (38.2 cM), respectively. For Cia5 (40 cM) on mouse Chromosome 4 differential expression was observed for Ctsk (47.9 cM) and Cd53(50.5 cM). For Cia8 (40.4 cM) on mouse Chromosome 10 differential expression was observed for Bsg (42.4 cM).

*cM position of peak correlated region/marker