SLC6A6 (solute carrier family 6 member 6) - Rat Genome Database

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Gene: SLC6A6 (solute carrier family 6 member 6) Homo sapiens
Analyze
Symbol: SLC6A6
Name: solute carrier family 6 member 6
RGD ID: 69004
HGNC Page HGNC:11052
Description: Enables alanine transmembrane transporter activity; amino acid:sodium symporter activity; and taurine:sodium symporter activity. Involved in alanine transport; amino acid import across plasma membrane; and taurine transmembrane transport. Located in apical plasma membrane; basolateral plasma membrane; and microvillus membrane. Biomarker of multiple system atrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HTRDC; MGC10619; MGC131729; sodium- and chloride-dependent taurine transporter; solute carrier family 6 (neurotransmitter transporter, taurine), member 6; solute carrier family 6, member 6; taurine transporter; TAUT
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: SLC6A6P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38314,402,576 - 14,489,349 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl314,402,576 - 14,489,349 (+)EnsemblGRCh38hg38GRCh38
GRCh37314,444,076 - 14,530,857 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36314,419,110 - 14,505,861 (+)NCBINCBI36Build 36hg18NCBI36
Build 34314,419,109 - 14,503,973NCBI
Celera314,382,349 - 14,469,089 (+)NCBICelera
Cytogenetic Map3p25.1ENTREZGENE
HuRef314,380,198 - 14,466,798 (+)NCBIHuRef
CHM1_1314,395,197 - 14,481,943 (+)NCBICHM1_1
T2T-CHM13v2.0314,405,068 - 14,491,755 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
1-benzylpiperazine  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP,ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrolein  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
alpha-Zearalanol  (ISO)
amiodarone  (ISO)
amitriptyline  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
amphotericin B  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (ISO)
avobenzone  (EXP)
azathioprine  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-lapachone  (EXP)
beta-naphthoflavone  (ISO)
bexarotene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
bromobenzene  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
cadmium sulfate  (EXP)
carbon nanotube  (ISO)
chlordecone  (ISO)
chloroacetaldehyde  (EXP)
chloroprene  (ISO)
chlorpromazine  (ISO)
cidofovir anhydrous  (EXP)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
clomipramine  (ISO)
cobalt dichloride  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
DDE  (EXP)
decabromodiphenyl ether  (ISO)
dextran sulfate  (ISO)
diallyl disulfide  (EXP)
diallyl trisulfide  (EXP)
Diallyltetrasulfane  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
diethylstilbestrol  (EXP)
dimethylarsinic acid  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
doxorubicin  (ISO)
endosulfan  (ISO)
fenthion  (ISO)
fulvestrant  (EXP)
genistein  (EXP)
gentamycin  (ISO)
glycidyl methacrylate  (EXP)
imipramine  (ISO)
indole-3-methanol  (ISO)
ketoconazole  (ISO)
L-ethionine  (ISO)
lead diacetate  (EXP,ISO)
lead(II) chloride  (EXP)
manganese atom  (ISO)
manganese(0)  (ISO)
metformin  (ISO)
methidathion  (ISO)
methimazole  (ISO)
N-acetyl-L-cysteine  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nefazodone  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
O-methyleugenol  (EXP)
omeprazole  (ISO)
oxaliplatin  (ISO)
ozone  (EXP)
p-toluidine  (ISO)
paracetamol  (EXP,ISO)
parathion  (ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
phenformin  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
resveratrol  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
serpentine asbestos  (EXP)
silicon dioxide  (EXP)
sodium arsenate  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
streptozocin  (ISO)
sulfadimethoxine  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
taurine  (ISO)
temozolomide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topiramate  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP,ISO)
triptonide  (ISO)
valproic acid  (EXP,ISO)
venlafaxine hydrochloride  (ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
zearalenone  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Widespread microRNA dysregulation in multiple system atrophy - disease-related alteration in miR-96. Ubhi K, etal., Eur J Neurosci. 2014 Mar;39(6):1026-41. doi: 10.1111/ejn.12444. Epub 2013 Dec 5.
Additional References at PubMed
PMID:1518851   PMID:7774940   PMID:7881434   PMID:8010975   PMID:8382624   PMID:8654117   PMID:8889548   PMID:11140363   PMID:12062416   PMID:12163498   PMID:12477932   PMID:12681485  
PMID:12871209   PMID:12908594   PMID:12908596   PMID:12908598   PMID:15142033   PMID:15166008   PMID:15225620   PMID:15630186   PMID:15701671   PMID:15907840   PMID:16356117   PMID:16729199  
PMID:16956961   PMID:17153588   PMID:17153592   PMID:18195088   PMID:18501699   PMID:18703994   PMID:19074966   PMID:19423693   PMID:19602579   PMID:19734545   PMID:20424473   PMID:21739148  
PMID:21873635   PMID:23006423   PMID:23180277   PMID:23392873   PMID:23392891   PMID:23392892   PMID:23519128   PMID:24842606   PMID:24866236   PMID:25501278   PMID:26186194   PMID:26206726  
PMID:26439863   PMID:26590417   PMID:26638075   PMID:26955642   PMID:28112518   PMID:28514442   PMID:29676528   PMID:30021884   PMID:30194290   PMID:30280653   PMID:30639242   PMID:30767502  
PMID:31345061   PMID:31791063   PMID:31871319   PMID:31903486   PMID:32114438   PMID:32513696   PMID:32705197   PMID:33306668   PMID:33845483   PMID:33961781   PMID:34079125   PMID:34672954  
PMID:35696571   PMID:36215168   PMID:38117590   PMID:38569033  


Genomics

Comparative Map Data
SLC6A6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38314,402,576 - 14,489,349 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl314,402,576 - 14,489,349 (+)EnsemblGRCh38hg38GRCh38
GRCh37314,444,076 - 14,530,857 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36314,419,110 - 14,505,861 (+)NCBINCBI36Build 36hg18NCBI36
Build 34314,419,109 - 14,503,973NCBI
Celera314,382,349 - 14,469,089 (+)NCBICelera
Cytogenetic Map3p25.1ENTREZGENE
HuRef314,380,198 - 14,466,798 (+)NCBIHuRef
CHM1_1314,395,197 - 14,481,943 (+)NCBICHM1_1
T2T-CHM13v2.0314,405,068 - 14,491,755 (+)NCBIT2T-CHM13v2.0
Slc6a6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39691,661,031 - 91,736,044 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl691,661,034 - 91,736,047 (+)EnsemblGRCm39 Ensembl
GRCm38691,684,048 - 91,759,063 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl691,684,053 - 91,759,066 (+)EnsemblGRCm38mm10GRCm38
MGSCv37691,634,061 - 91,709,057 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36691,649,599 - 91,724,567 (+)NCBIMGSCv36mm8
Celera693,577,782 - 93,652,873 (+)NCBICelera
Cytogenetic Map6D1NCBI
cM Map640.73NCBI
Slc6a6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84125,752,340 - 125,826,033 (+)NCBIGRCr8
mRatBN7.24124,195,186 - 124,268,880 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4124,195,218 - 124,268,875 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4129,662,156 - 129,732,221 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04125,436,590 - 125,506,651 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04124,061,127 - 124,131,197 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04123,638,619 - 123,713,469 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4123,642,210 - 123,713,464 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04188,172,660 - 188,246,142 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44125,875,817 - 125,945,795 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14126,120,297 - 126,190,631 (+)NCBI
Celera4113,114,633 - 113,184,598 (+)NCBICelera
Cytogenetic Map4q34NCBI
Slc6a6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542917,098,268 - 17,130,433 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542917,097,753 - 17,130,079 (+)NCBIChiLan1.0ChiLan1.0
SLC6A6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2214,383,728 - 14,471,476 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1314,384,213 - 14,476,238 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0314,323,251 - 14,411,949 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1314,663,949 - 14,752,326 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl314,663,955 - 14,752,326 (+)Ensemblpanpan1.1panPan2
SLC6A6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1204,544,739 - 4,616,797 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl204,531,771 - 4,620,605 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha204,569,550 - 4,653,981 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0204,553,241 - 4,637,965 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl204,553,024 - 4,638,198 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1204,272,086 - 4,356,526 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0204,594,760 - 4,679,179 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0204,605,361 - 4,690,391 (+)NCBIUU_Cfam_GSD_1.0
Slc6a6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494218,633,842 - 18,667,901 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936602233,753 - 274,982 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC6A6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1370,094,079 - 70,173,582 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11370,094,073 - 70,173,581 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21377,572,736 - 77,608,407 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC6A6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12250,344,781 - 50,431,765 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2250,344,805 - 50,431,766 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041116,063,292 - 116,150,295 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc6a6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248721,266,007 - 1,310,361 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248721,266,240 - 1,318,710 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC6A6
40 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 copy number gain See cases [RCV000051097] Chr3:52266..37148076 [GRCh38]
Chr3:93949..37189567 [GRCh37]
Chr3:68949..37164571 [NCBI36]
Chr3:3p26.3-22.2
pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:52066-20280127)x3 copy number gain See cases [RCV000051690] Chr3:52066..20280127 [GRCh38]
Chr3:93749..20321619 [GRCh37]
Chr3:68749..20296623 [NCBI36]
Chr3:3p26.3-24.3
pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|See cases [RCV000051718] Chr3:52266..29248782 [GRCh38]
Chr3:93949..29290273 [GRCh37]
Chr3:68949..29265277 [NCBI36]
Chr3:3p26.3-24.1
pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3 copy number gain See cases [RCV000051719] Chr3:63843..19510600 [GRCh38]
Chr3:105526..19552092 [GRCh37]
Chr3:80526..19527096 [NCBI36]
Chr3:3p26.3-24.3
pathogenic
GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3 copy number gain See cases [RCV000051720] Chr3:11463328..38919543 [GRCh38]
Chr3:11504802..38961034 [GRCh37]
Chr3:11479802..38936038 [NCBI36]
Chr3:3p25.3-22.2
pathogenic
GRCh38/hg38 3p25.1(chr3:14053769-15011686)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053925]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053925]|See cases [RCV000053925] Chr3:14053769..15011686 [GRCh38]
Chr3:14095269..15053193 [GRCh37]
Chr3:14070270..15028197 [NCBI36]
Chr3:3p25.1
uncertain significance
NM_001134367.3(SLC6A6):c.738C>T (p.Ala246=) single nucleotide variant Malignant melanoma [RCV000065868] Chr3:14447652 [GRCh38]
Chr3:14489160 [GRCh37]
Chr3:14464164 [NCBI36]
Chr3:3p25.1
not provided
GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3 copy number gain See cases [RCV000138004] Chr3:32241..30064208 [GRCh38]
Chr3:73914..30105699 [GRCh37]
Chr3:48914..30080703 [NCBI36]
Chr3:3p26.3-24.1
pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3 copy number gain See cases [RCV000137941] Chr3:32241..20334387 [GRCh38]
Chr3:73914..20375879 [GRCh37]
Chr3:48914..20350883 [NCBI36]
Chr3:3p26.3-24.3
pathogenic
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 copy number gain See cases [RCV000141810] Chr3:53308..41381521 [GRCh38]
Chr3:94991..41423012 [GRCh37]
Chr3:69991..41398016 [NCBI36]
Chr3:3p26.3-22.1
pathogenic
GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4 copy number gain See cases [RCV000143767] Chr3:14360747..21656134 [GRCh38]
Chr3:14402247..21697626 [GRCh37]
Chr3:14377251..21672630 [NCBI36]
Chr3:3p25.1-24.3
pathogenic
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)x3 copy number gain See cases [RCV000447247] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2
pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3 copy number gain See cases [RCV000448528] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2
pathogenic
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3 copy number gain See cases [RCV000510429] Chr3:61891..33958201 [GRCh37]
Chr3:3p26.3-22.3
pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3 copy number gain See cases [RCV000511463] Chr3:61891..37459464 [GRCh37]
Chr3:3p26.3-22.2
pathogenic
GRCh37/hg19 3p25.1-24.3(chr3:13720222-17808236)x1 copy number loss See cases [RCV000511037] Chr3:13720222..17808236 [GRCh37]
Chr3:3p25.1-24.3
likely pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_003043.6(SLC6A6):c.1109C>T (p.Ala370Val) single nucleotide variant not specified [RCV004310874] Chr3:14472217 [GRCh38]
Chr3:14513725 [GRCh37]
Chr3:3p25.1
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3 copy number gain not provided [RCV000682215] Chr3:1897972..19519085 [GRCh37]
Chr3:3p26.3-24.3
pathogenic
GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3 copy number gain not provided [RCV000682233] Chr3:5173870..16760262 [GRCh37]
Chr3:3p26.1-24.3
pathogenic
GRCh37/hg19 3p25.1(chr3:14283860-14552127)x3 copy number gain not provided [RCV000682246] Chr3:14283860..14552127 [GRCh37]
Chr3:3p25.1
likely benign
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p25.2-24.2(chr3:13276005-24295240)x3 copy number gain not provided [RCV000742260] Chr3:13276005..24295240 [GRCh37]
Chr3:3p25.2-24.2
pathogenic
NM_003043.6(SLC6A6):c.145G>A (p.Asp49Asn) single nucleotide variant not provided [RCV000998004] Chr3:14443779 [GRCh38]
Chr3:14485287 [GRCh37]
Chr3:3p25.1
uncertain significance
NM_003043.6(SLC6A6):c.1196G>T (p.Gly399Val) single nucleotide variant Hypotaurinemic retinal degeneration and cardiomyopathy [RCV001449580]|Retinal degeneration [RCV001089879] Chr3:14472304 [GRCh38]
Chr3:14513812 [GRCh37]
Chr3:3p25.1
pathogenic|likely pathogenic
NM_003043.6(SLC6A6):c.233C>A (p.Ala78Glu) single nucleotide variant Hypotaurinemic retinal degeneration and cardiomyopathy [RCV001449581]|Retinal degeneration [RCV001089880] Chr3:14445720 [GRCh38]
Chr3:14487228 [GRCh37]
Chr3:3p25.1
pathogenic|likely pathogenic
NM_003043.6(SLC6A6):c.1775G>A (p.Arg592His) single nucleotide variant not specified [RCV004683850] Chr3:14484919 [GRCh38]
Chr3:14526427 [GRCh37]
Chr3:3p25.1
uncertain significance
NC_000003.11:g.14406477_14509088dup duplication Megacolon [RCV001290072] Chr3:14406477..14509088 [GRCh37]
Chr3:3p25.1
likely pathogenic
Single allele deletion 3p- syndrome [RCV002280352] Chr3:13371737..20095506 [GRCh38]
Chr3:3p25.1-24.3
pathogenic
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821) copy number gain not specified [RCV002053299] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2
pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181) copy number gain not specified [RCV002053300] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2
pathogenic
NM_003043.6(SLC6A6):c.68G>C (p.Gly23Ala) single nucleotide variant not specified [RCV004324887] Chr3:14443702 [GRCh38]
Chr3:14485210 [GRCh37]
Chr3:3p25.1
uncertain significance
GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3 copy number gain See cases [RCV002287839] Chr3:13836340..25357427 [GRCh37]
Chr3:3p25.1-24.2
pathogenic
NM_003043.6(SLC6A6):c.1801C>G (p.Arg601Gly) single nucleotide variant not specified [RCV004098892] Chr3:14484945 [GRCh38]
Chr3:14526453 [GRCh37]
Chr3:3p25.1
uncertain significance
NM_003043.6(SLC6A6):c.1816G>A (p.Gly606Ser) single nucleotide variant not specified [RCV004238695] Chr3:14484960 [GRCh38]
Chr3:14526468 [GRCh37]
Chr3:3p25.1
uncertain significance
NM_003043.6(SLC6A6):c.1616C>G (p.Pro539Arg) single nucleotide variant not specified [RCV004222221] Chr3:14481735 [GRCh38]
Chr3:14523243 [GRCh37]
Chr3:3p25.1
uncertain significance
NM_003043.6(SLC6A6):c.1790C>T (p.Pro597Leu) single nucleotide variant not specified [RCV004121719] Chr3:14484934 [GRCh38]
Chr3:14526442 [GRCh37]
Chr3:3p25.1
uncertain significance
NM_003043.6(SLC6A6):c.389T>C (p.Ile130Thr) single nucleotide variant not specified [RCV004100694] Chr3:14447606 [GRCh38]
Chr3:14489114 [GRCh37]
Chr3:3p25.1
uncertain significance
NM_003043.6(SLC6A6):c.1802G>A (p.Arg601His) single nucleotide variant not specified [RCV004241595] Chr3:14484946 [GRCh38]
Chr3:14526454 [GRCh37]
Chr3:3p25.1
uncertain significance
NM_003043.6(SLC6A6):c.1573G>A (p.Val525Ile) single nucleotide variant not specified [RCV004171373] Chr3:14481692 [GRCh38]
Chr3:14523200 [GRCh37]
Chr3:3p25.1
uncertain significance
NM_003043.6(SLC6A6):c.558C>G (p.Ile186Met) single nucleotide variant not specified [RCV004103408] Chr3:14447775 [GRCh38]
Chr3:14489283 [GRCh37]
Chr3:3p25.1
uncertain significance
NM_003043.6(SLC6A6):c.1312A>C (p.Ile438Leu) single nucleotide variant not specified [RCV004091952] Chr3:14477307 [GRCh38]
Chr3:14518815 [GRCh37]
Chr3:3p25.1
uncertain significance
NM_003043.6(SLC6A6):c.116C>T (p.Pro39Leu) single nucleotide variant not specified [RCV004261663] Chr3:14443750 [GRCh38]
Chr3:14485258 [GRCh37]
Chr3:3p25.1
uncertain significance
NM_003043.6(SLC6A6):c.1075A>G (p.Ile359Val) single nucleotide variant not specified [RCV004270034] Chr3:14468191 [GRCh38]
Chr3:14509699 [GRCh37]
Chr3:3p25.1
uncertain significance
NM_003043.6(SLC6A6):c.722C>G (p.Ser241Cys) single nucleotide variant not specified [RCV004264630] Chr3:14458072 [GRCh38]
Chr3:14499580 [GRCh37]
Chr3:3p25.1
uncertain significance
NM_003043.6(SLC6A6):c.530G>A (p.Arg177His) single nucleotide variant not specified [RCV004329278] Chr3:14447747 [GRCh38]
Chr3:14489255 [GRCh37]
Chr3:3p25.1
uncertain significance
NM_003043.6(SLC6A6):c.1814A>G (p.Asn605Ser) single nucleotide variant not specified [RCV004336525] Chr3:14484958 [GRCh38]
Chr3:14526466 [GRCh37]
Chr3:3p25.1
uncertain significance
NM_003043.6(SLC6A6):c.1483A>G (p.Met495Val) single nucleotide variant not specified [RCV004360081] Chr3:14479117 [GRCh38]
Chr3:14520625 [GRCh37]
Chr3:3p25.1
uncertain significance
NM_003043.6(SLC6A6):c.1355T>G (p.Met452Arg) single nucleotide variant not specified [RCV004359494] Chr3:14478473 [GRCh38]
Chr3:14519981 [GRCh37]
Chr3:3p25.1
uncertain significance
GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3 copy number gain not provided [RCV003484107] Chr3:310747..28297447 [GRCh37]
Chr3:3p26.3-24.1
pathogenic
GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3 copy number gain not specified [RCV003986437] Chr3:61891..33946644 [GRCh37]
Chr3:3p26.3-22.3
pathogenic
NM_003043.6(SLC6A6):c.1582G>A (p.Val528Ile) single nucleotide variant not specified [RCV004464325] Chr3:14481701 [GRCh38]
Chr3:14523209 [GRCh37]
Chr3:3p25.1
uncertain significance
NM_003043.6(SLC6A6):c.1760G>A (p.Arg587His) single nucleotide variant not specified [RCV004464326] Chr3:14484904 [GRCh38]
Chr3:14526412 [GRCh37]
Chr3:3p25.1
uncertain significance
NM_003043.6(SLC6A6):c.1807G>A (p.Val603Ile) single nucleotide variant not specified [RCV004464327] Chr3:14484951 [GRCh38]
Chr3:14526459 [GRCh37]
Chr3:3p25.1
uncertain significance
NM_003043.6(SLC6A6):c.563C>A (p.Ser188Tyr) single nucleotide variant not specified [RCV004464329] Chr3:14447780 [GRCh38]
Chr3:14489288 [GRCh37]
Chr3:3p25.1
uncertain significance
NM_003043.6(SLC6A6):c.814G>A (p.Ala272Thr) single nucleotide variant not specified [RCV004464331] Chr3:14466597 [GRCh38]
Chr3:14508105 [GRCh37]
Chr3:3p25.1
uncertain significance
NM_003043.6(SLC6A6):c.1495C>T (p.Arg499Trp) single nucleotide variant not specified [RCV004464323] Chr3:14479129 [GRCh38]
Chr3:14520637 [GRCh37]
Chr3:3p25.1
uncertain significance
NM_003043.6(SLC6A6):c.715G>A (p.Val239Ile) single nucleotide variant not specified [RCV004464330] Chr3:14458065 [GRCh38]
Chr3:14499573 [GRCh37]
Chr3:3p25.1
uncertain significance
GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3 copy number gain not provided [RCV004577500] Chr3:60000..34461438 [GRCh37]
Chr3:3p26.3-22.3
pathogenic
NM_003043.6(SLC6A6):c.933G>A (p.Ser311=) single nucleotide variant not specified [RCV004464332] Chr3:14467918 [GRCh38]
Chr3:14509426 [GRCh37]
Chr3:3p25.1
likely benign
NM_003043.6(SLC6A6):c.382G>A (p.Val128Ile) single nucleotide variant not provided [RCV004545993] Chr3:14447599 [GRCh38]
Chr3:14489107 [GRCh37]
Chr3:3p25.1
benign
NM_003043.6(SLC6A6):c.1525G>A (p.Ala509Thr) single nucleotide variant not specified [RCV004464324] Chr3:14479159 [GRCh38]
Chr3:14520667 [GRCh37]
Chr3:3p25.1
uncertain significance
NM_003043.6(SLC6A6):c.340G>A (p.Glu114Lys) single nucleotide variant not specified [RCV004464328] Chr3:14445827 [GRCh38]
Chr3:14487335 [GRCh37]
Chr3:3p25.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:8947
Count of miRNA genes:1361
Interacting mature miRNAs:1792
Transcripts:ENST00000360861, ENST00000416216, ENST00000427436, ENST00000428884, ENST00000435095, ENST00000452151, ENST00000452775, ENST00000454876, ENST00000458124, ENST00000484191, ENST00000490683
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407320838GWAS969814_Hrevision of total knee arthroplasty QTL GWAS969814 (human)3e-08revision of total knee arthroplasty31446680314466804Human
406905889GWAS554865_HS-warfarin measurement QTL GWAS554865 (human)0.000003S-warfarin measurement31447286214472863Human
406965667GWAS614643_Hresponse to antineoplastic agent QTL GWAS614643 (human)0.000001response to antineoplastic agent31443927014439271Human
407275456GWAS924432_Hbody height QTL GWAS924432 (human)4e-18body height (VT:0001253)body height (CMO:0000106)31445546614455467Human
407019365GWAS668341_Hmean platelet volume QTL GWAS668341 (human)2e-10mean platelet volumemean platelet volume (CMO:0001348)31440538214405383Human
406930859GWAS579835_Heducational attainment QTL GWAS579835 (human)9e-12educational attainment31446893414468935Human
406987693GWAS636669_Hsystolic blood pressure QTL GWAS636669 (human)5e-08systolic blood pressuresystolic blood pressure (CMO:0000004)31444116914441170Human
407293801GWAS942777_Hrevision of total joint arthroplasty QTL GWAS942777 (human)2e-10revision of total joint arthroplasty31446402514464026Human
407062736GWAS711712_Hwaist-hip ratio QTL GWAS711712 (human)0.0000005waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)31442575514425756Human
407416926GWAS1065902_Hpulse pressure measurement QTL GWAS1065902 (human)0.000002pulse pressure measurementpulse pressure (CMO:0000292)31444116914441170Human
406912758GWAS561734_Hdisease recurrence, unipolar depression, bipolar disorder, schizophrenia, sex interaction measurement QTL GWAS561734 (human)0.000009disease recurrence, unipolar depression, bipolar disorder, schizophrenia, sex interaction measurement31446529014465291Human
406898550GWAS547526_Hneuropsychological test QTL GWAS547526 (human)0.000003neuropsychological test31448921314489214Human
2316345GLUCO224_HGlucose level QTL 224 (human)1.270.008Glucose level3121543441Human
407293789GWAS942765_Hrevision of total joint arthroplasty, aseptic loosening QTL GWAS942765 (human)2e-10revision of total joint arthroplasty, aseptic loosening31446720714467208Human
406885660GWAS534636_Hsystolic blood pressure QTL GWAS534636 (human)0.000006systolic blood pressuresystolic blood pressure (CMO:0000004)31444116914441170Human
407158297GWAS807273_Hgut microbiome measurement QTL GWAS807273 (human)0.0000004gut microbiome measurement31448652014486521Human

Markers in Region
D3S3892  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37314,526,733 - 14,526,823UniSTSGRCh37
Build 36314,501,737 - 14,501,827RGDNCBI36
Celera314,464,965 - 14,465,055RGD
Cytogenetic Map3p25.1UniSTS
HuRef314,462,798 - 14,462,888UniSTS
GeneMap99-G3 RH Map3704.0UniSTS
STS-M78677  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37314,523,191 - 14,523,321UniSTSGRCh37
Build 36314,498,195 - 14,498,325RGDNCBI36
Celera314,461,423 - 14,461,553RGD
Cytogenetic Map3p25.1UniSTS
HuRef314,459,252 - 14,459,382UniSTS
GeneMap99-GB4 RH Map356.17UniSTS
D3S1325E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37314,523,203 - 14,523,321UniSTSGRCh37
Build 36314,498,207 - 14,498,325RGDNCBI36
Celera314,461,435 - 14,461,553RGD
Cytogenetic Map3p25.1UniSTS
HuRef314,459,264 - 14,459,382UniSTS
D3S2754E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37314,530,647 - 14,530,729UniSTSGRCh37
Build 36314,505,651 - 14,505,733RGDNCBI36
Celera314,468,879 - 14,468,961RGD
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3p24-p23UniSTS
HuRef314,466,588 - 14,466,670UniSTS
G67701  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37314,526,438 - 14,526,776UniSTSGRCh37
Build 36314,501,442 - 14,501,780RGDNCBI36
Celera314,464,670 - 14,465,008RGD
Cytogenetic Map3p25.1UniSTS
HuRef314,462,499 - 14,462,841UniSTS
G67700  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37314,444,529 - 14,444,848UniSTSGRCh37
Build 36314,419,533 - 14,419,852RGDNCBI36
Celera314,382,764 - 14,383,083RGD
Cytogenetic Map3p25.1UniSTS
HuRef314,380,643 - 14,380,966UniSTS
D3S4548  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37314,526,562 - 14,526,721UniSTSGRCh37
Build 36314,501,566 - 14,501,725RGDNCBI36
Celera314,464,794 - 14,464,953RGD
Cytogenetic Map3p25.1UniSTS
HuRef314,462,623 - 14,462,786UniSTS
SHGC-31156  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37314,512,685 - 14,512,834UniSTSGRCh37
Build 36314,487,689 - 14,487,838RGDNCBI36
Celera314,450,917 - 14,451,066RGD
Cytogenetic Map3p25.1UniSTS
HuRef314,448,746 - 14,448,895UniSTS
TNG Radiation Hybrid Map37879.0UniSTS
Stanford-G3 RH Map3704.0UniSTS
GeneMap99-GB4 RH Map356.69UniSTS
Whitehead-RH Map362.1UniSTS
NCBI RH Map3179.9UniSTS
GeneMap99-G3 RH Map3704.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2433 2788 2245 4945 1723 2345 5 622 1949 464 2268 7285 6456 52 3711 847 1732 1612 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001134367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001134368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_103507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_427286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_940495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AEKP01055341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF346763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM149397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM873716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM981004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ945675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU625571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX478649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX509263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX510251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA448606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD366732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC359099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U09220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U16120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z18956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000452151   ⟹   ENSP00000399522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl314,472,242 - 14,484,903 (+)Ensembl
Ensembl Acc Id: ENST00000452775   ⟹   ENSP00000402059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl314,432,670 - 14,445,816 (+)Ensembl
Ensembl Acc Id: ENST00000610642   ⟹   ENSP00000482391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl314,402,576 - 14,478,901 (+)Ensembl
Ensembl Acc Id: ENST00000613060   ⟹   ENSP00000481625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl314,402,576 - 14,489,349 (+)Ensembl
Ensembl Acc Id: ENST00000613930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl314,402,621 - 14,444,342 (+)Ensembl
Ensembl Acc Id: ENST00000615188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl314,402,648 - 14,458,026 (+)Ensembl
Ensembl Acc Id: ENST00000618278   ⟹   ENSP00000481946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl314,402,576 - 14,489,349 (+)Ensembl
Ensembl Acc Id: ENST00000621751   ⟹   ENSP00000482560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl314,402,620 - 14,448,188 (+)Ensembl
Ensembl Acc Id: ENST00000622176   ⟹   ENSP00000482220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl314,402,625 - 14,458,061 (+)Ensembl
Ensembl Acc Id: ENST00000622186   ⟹   ENSP00000480890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl314,402,606 - 14,489,349 (+)Ensembl
Ensembl Acc Id: ENST00000622810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl314,402,576 - 14,411,323 (+)Ensembl
Ensembl Acc Id: ENST00000649500   ⟹   ENSP00000497250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl314,402,584 - 14,489,307 (+)Ensembl
RefSeq Acc Id: NM_001134367   ⟹   NP_001127839
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38314,402,576 - 14,489,349 (+)NCBI
GRCh37314,444,076 - 14,530,857 (+)NCBI
HuRef314,380,198 - 14,466,798 (+)NCBI
CHM1_1314,395,197 - 14,481,943 (+)NCBI
T2T-CHM13v2.0314,405,068 - 14,491,755 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001134368   ⟹   NP_001127840
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38314,402,606 - 14,448,188 (+)NCBI
GRCh37314,444,076 - 14,530,857 (+)NCBI
HuRef314,380,198 - 14,466,798 (+)NCBI
CHM1_1314,395,197 - 14,440,797 (+)NCBI
T2T-CHM13v2.0314,405,098 - 14,450,612 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003043   ⟹   NP_003034
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38314,402,606 - 14,489,349 (+)NCBI
Build 36314,419,110 - 14,505,861 (+)NCBI Archive
HuRef314,380,198 - 14,466,798 (+)NCBI
CHM1_1314,395,197 - 14,481,943 (+)NCBI
T2T-CHM13v2.0314,405,098 - 14,491,755 (+)NCBI
Sequence:
RefSeq Acc Id: NR_103507
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38314,402,606 - 14,489,349 (+)NCBI
HuRef314,380,198 - 14,466,798 (+)NCBI
CHM1_1314,395,197 - 14,481,943 (+)NCBI
T2T-CHM13v2.0314,405,098 - 14,491,755 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006713307   ⟹   XP_006713370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38314,432,416 - 14,489,349 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011534030   ⟹   XP_011532332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38314,426,250 - 14,489,349 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047448762   ⟹   XP_047304718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38314,443,775 - 14,489,349 (+)NCBI
RefSeq Acc Id: XM_047448763   ⟹   XP_047304719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38314,432,416 - 14,472,316 (+)NCBI
RefSeq Acc Id: XM_054347618   ⟹   XP_054203593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0314,434,554 - 14,491,755 (+)NCBI
RefSeq Acc Id: XM_054347619   ⟹   XP_054203594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0314,446,205 - 14,491,755 (+)NCBI
RefSeq Acc Id: XM_054347620   ⟹   XP_054203595
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0314,432,509 - 14,474,722 (+)NCBI
RefSeq Acc Id: XR_008486778
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0314,432,508 - 14,484,156 (+)NCBI
RefSeq Acc Id: XR_940495
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38314,432,416 - 14,481,749 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001127839 (Get FASTA)   NCBI Sequence Viewer  
  NP_001127840 (Get FASTA)   NCBI Sequence Viewer  
  NP_003034 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713370 (Get FASTA)   NCBI Sequence Viewer  
  XP_011532332 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304718 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304719 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203593 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203594 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203595 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA50842 (Get FASTA)   NCBI Sequence Viewer  
  AAC50443 (Get FASTA)   NCBI Sequence Viewer  
  AAH06252 (Get FASTA)   NCBI Sequence Viewer  
  AAI11490 (Get FASTA)   NCBI Sequence Viewer  
  AAI37129 (Get FASTA)   NCBI Sequence Viewer  
  AAI37130 (Get FASTA)   NCBI Sequence Viewer  
  AAK30132 (Get FASTA)   NCBI Sequence Viewer  
  BAD92409 (Get FASTA)   NCBI Sequence Viewer  
  BAG64652 (Get FASTA)   NCBI Sequence Viewer  
  CAA79481 (Get FASTA)   NCBI Sequence Viewer  
  EAW64192 (Get FASTA)   NCBI Sequence Viewer  
  EAW64193 (Get FASTA)   NCBI Sequence Viewer  
  EAW64194 (Get FASTA)   NCBI Sequence Viewer  
  EAW64195 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000399522.1
  ENSP00000402059.1
  ENSP00000480890
  ENSP00000480890.1
  ENSP00000481625
  ENSP00000481625.1
  ENSP00000481946.1
  ENSP00000482220.1
  ENSP00000482391.1
  ENSP00000482560
  ENSP00000482560.1
  ENSP00000497250.1
GenBank Protein P31641 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_003034   ⟸   NM_003043
- Peptide Label: isoform a
- UniProtKB: Q9BRI2 (UniProtKB/Swiss-Prot),   B2RNU7 (UniProtKB/Swiss-Prot),   Q9BXB0 (UniProtKB/Swiss-Prot),   P31641 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001127839   ⟸   NM_001134367
- Peptide Label: isoform c
- UniProtKB: A0A087WY96 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001127840   ⟸   NM_001134368
- Peptide Label: isoform b
- UniProtKB: P31641 (UniProtKB/Swiss-Prot),   B4E140 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006713370   ⟸   XM_006713307
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011532332   ⟸   XM_011534030
- Peptide Label: isoform X2
- UniProtKB: Q9BRI2 (UniProtKB/Swiss-Prot),   B2RNU7 (UniProtKB/Swiss-Prot),   Q9BXB0 (UniProtKB/Swiss-Prot),   P31641 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000497250   ⟸   ENST00000649500
Ensembl Acc Id: ENSP00000482560   ⟸   ENST00000621751
Ensembl Acc Id: ENSP00000480890   ⟸   ENST00000622186
Ensembl Acc Id: ENSP00000482220   ⟸   ENST00000622176
Ensembl Acc Id: ENSP00000402059   ⟸   ENST00000452775
Ensembl Acc Id: ENSP00000399522   ⟸   ENST00000452151
Ensembl Acc Id: ENSP00000482391   ⟸   ENST00000610642
Ensembl Acc Id: ENSP00000481625   ⟸   ENST00000613060
Ensembl Acc Id: ENSP00000481946   ⟸   ENST00000618278
RefSeq Acc Id: XP_047304719   ⟸   XM_047448763
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047304718   ⟸   XM_047448762
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054203595   ⟸   XM_054347620
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054203593   ⟸   XM_054347618
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054203594   ⟸   XM_054347619
- Peptide Label: isoform X3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P31641-F1-model_v2 AlphaFold P31641 1-620 view protein structure

Promoters
RGD ID:6863666
Promoter ID:EPDNEW_H4998
Type:initiation region
Name:SLC6A6_1
Description:solute carrier family 6 member 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38314,402,621 - 14,402,681EPDNEW
RGD ID:6801700
Promoter ID:HG_KWN:43869
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_003043,   OTTHUMT00000340507,   OTTHUMT00000340508,   OTTHUMT00000340509,   OTTHUMT00000340510,   OTTHUMT00000340512,   OTTHUMT00000340513,   OTTHUMT00000340514,   UC003BYR.1,   UC010HEE.1,   UC010HEF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36314,418,726 - 14,419,357 (+)MPROMDB
RGD ID:6801702
Promoter ID:HG_KWN:43870
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000340515
Position:
Human AssemblyChrPosition (strand)Source
Build 36314,448,371 - 14,449,592 (+)MPROMDB
RGD ID:6801701
Promoter ID:HG_KWN:43871
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562
Transcripts:OTTHUMT00000340516
Position:
Human AssemblyChrPosition (strand)Source
Build 36314,488,841 - 14,489,341 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11052 AgrOrtholog
COSMIC SLC6A6 COSMIC
Ensembl Genes ENSG00000131389 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000452151.1 UniProtKB/TrEMBL
  ENST00000452775.1 UniProtKB/TrEMBL
  ENST00000610642.4 UniProtKB/TrEMBL
  ENST00000613060 ENTREZGENE
  ENST00000613060.4 UniProtKB/TrEMBL
  ENST00000618278 ENTREZGENE
  ENST00000618278.4 UniProtKB/TrEMBL
  ENST00000621751 ENTREZGENE
  ENST00000621751.4 UniProtKB/Swiss-Prot
  ENST00000622176.4 UniProtKB/TrEMBL
  ENST00000622186 ENTREZGENE
  ENST00000622186.5 UniProtKB/Swiss-Prot
  ENST00000649500.1 UniProtKB/TrEMBL
GTEx ENSG00000131389 GTEx
HGNC ID HGNC:11052 ENTREZGENE
Human Proteome Map SLC6A6 Human Proteome Map
InterPro Na/ntran_symport UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Na/ntran_symport_taurine UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNS_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6533 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6533 ENTREZGENE
OMIM 186854 OMIM
PANTHER PTHR11616 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SODIUM- AND CHLORIDE-DEPENDENT TAURINE TRANSPORTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SNF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35912 PharmGKB
PRINTS NANEUSMPORT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TAUTRANSPORT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NA_NEUROTRAN_SYMP_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NA_NEUROTRAN_SYMP_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NA_NEUROTRAN_SYMP_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF161070 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WY96 ENTREZGENE, UniProtKB/TrEMBL
  A0A087WYN0_HUMAN UniProtKB/TrEMBL
  A0A087WYY8_HUMAN UniProtKB/TrEMBL
  A0A087WZ59_HUMAN UniProtKB/TrEMBL
  B2RNU7 ENTREZGENE
  B4E140 ENTREZGENE, UniProtKB/TrEMBL
  C9JPV1_HUMAN UniProtKB/TrEMBL
  H7C1B9_HUMAN UniProtKB/TrEMBL
  P31641 ENTREZGENE
  Q59GD7_HUMAN UniProtKB/TrEMBL
  Q9BRI2 ENTREZGENE
  Q9BXB0 ENTREZGENE
  SC6A6_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2RNU7 UniProtKB/Swiss-Prot
  Q9BRI2 UniProtKB/Swiss-Prot
  Q9BXB0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-08 SLC6A6  solute carrier family 6 member 6    solute carrier family 6 (neurotransmitter transporter), member 6  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC6A6  solute carrier family 6 (neurotransmitter transporter), member 6    solute carrier family 6 (neurotransmitter transporter, taurine), member 6  Symbol and/or name change 5135510 APPROVED