SLC6A2 (solute carrier family 6 member 2) - Rat Genome Database

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Gene: SLC6A2 (solute carrier family 6 member 2) Homo sapiens
Analyze
Symbol: SLC6A2
Name: solute carrier family 6 member 2
RGD ID: 731947
HGNC Page HGNC
Description: Enables actin binding activity and monoamine transmembrane transporter activity. Acts upstream of or within monoamine transport. Predicted to be located in plasma membrane. Predicted to be active in neuron projection; neuronal cell body membrane; and presynaptic membrane. Predicted to be integral component of plasma membrane. Implicated in hypertension and neurocirculatory asthenia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: NAT1; NET; NET1; neurotransmitter transporter; norepinephrine transporter; SLC6A5; sodium-dependent noradrenaline transporter; solute carrier family 6 (neurotransmitter transporter), member 2; solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2; solute carrier family 6 (neurotransmitter transporter,noradrenalin), member 2; solute carrier family 6 member 5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: NET is an alias on both SLC6A2 (Gene ID: 6530, "norepinephrine transporter") and ELK3 (Gene ID: 2004). [01 Jun 2018]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1655,655,988 - 55,707,645 (+)EnsemblGRCh38hg38GRCh38
GRCh381655,655,928 - 55,706,192 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371655,689,900 - 55,740,104 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361654,248,057 - 54,295,201 (+)NCBINCBI36hg18NCBI36
Build 341654,248,058 - 54,293,992NCBI
Celera1640,203,750 - 40,254,437 (+)NCBI
Cytogenetic Map16q12.2NCBI
HuRef1641,576,866 - 41,627,544 (+)NCBIHuRef
CHM1_11657,096,804 - 57,147,472 (+)NCBICHM1_1
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
(20S)-ginsenoside Rg3  (ISO)
(R)-noradrenaline  (EXP,ISO)
(R)-octopamine  (EXP)
(S)-amphetamine  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,5-dimethoxy-4-bromophenethylamine  (EXP)
2-phenylethylamine  (EXP)
3,4-methylenedioxymethamphetamine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
aflatoxin B1  (EXP)
aminorex  (ISO)
ammonium chloride  (ISO)
amphetamine  (EXP)
antimycin A  (EXP)
Aroclor 1254  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenous acid  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
bupivacaine  (ISO)
buta-1,3-diene  (ISO)
carbon nanotube  (ISO)
carmustine  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
clozapine  (ISO)
cocaine  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
decabromodiphenyl ether  (ISO)
desferrioxamine B  (ISO)
desipramine  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dieldrin  (ISO)
dopamine  (EXP,ISO)
elemental selenium  (EXP)
Erionite  (ISO)
flavonoids  (ISO)
fluoxetine  (EXP)
folic acid  (ISO)
fonofos  (EXP)
genistein  (ISO)
hydralazine  (EXP)
hydrazine  (ISO)
hydrogen sulfide  (ISO)
kainic acid  (ISO)
ketamine  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
lidocaine  (ISO)
maneb  (ISO)
methamphetamine  (EXP)
monensin A  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
monosodium L-glutamate  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
nickel atom  (EXP,ISO)
nisoxetine  (EXP)
nortriptyline  (EXP)
octopamine  (EXP)
paraquat  (ISO)
parathion  (EXP)
PCB138  (ISO)
pentetrazol  (ISO)
permethrin  (ISO)
pirinixic acid  (EXP)
protriptyline  (ISO)
reboxetine  (ISO)
reserpine  (ISO)
SB 203580  (ISO)
selenium atom  (EXP)
serotonin  (EXP)
sodium arsenite  (EXP)
terbufos  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
tremolite asbestos  (ISO)
tricaine  (ISO)
triclosan  (EXP)
tryptamine  (EXP)
tyramine  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)
zidovudine  (EXP)
zinc sulfate  (EXP)

Molecular Pathway Annotations     Click to see Annotation Detail View
alfentanil pharmacodynamics pathway  (EXP)
bupivacaine pharmacodynamics pathway  (EXP)
buprenorphine pharmacodynamics pathway  (EXP)
chloroprocaine pharmacodynamics pathway  (EXP)
citalopram pharmacodynamics pathway  (EXP)
cocaine pharmacodynamics pathway  (EXP)
codeine and morphine pharmacodynamics pathway  (EXP)
desipramine pharmacodynamics pathway  (EXP)
desipramine pharmacokinetics pathway  (EXP)
diphenoxylate pharmacodynamics pathway  (EXP)
escitalopram pharmacodynamics pathway  (EXP)
ethylmorphine pharmacodynamics pathway  (EXP)
fentanyl pharmacodynamics pathway  (EXP)
fluoxetine pharmacodynamics pathway  (EXP)
heroin pharmacodynamics pathway  (EXP)
hydrocodone pharmacodynamics pathway  (EXP)
hydromorphone pharmacodynamics pathway  (EXP)
imipramine pharmacodynamics pathway  (EXP)
imipramine pharmacokinetics pathway  (EXP)
levacetylmethadol pharmacodynamics pathway  (EXP)
levobupivacaine phgarmacodynamics pathway  (EXP)
levorphanol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
mepivacaine pharmacodynamics pathway  (EXP)
methadone pharmacodynamics pathway  (EXP)
nalbuphine pharmacodynamics pathway  (EXP)
naloxone pharmacodynamics pathway  (EXP)
naltrexone pharmacodynamics pathway  (EXP)
nicotine pharmacodynamics pathway  (EXP)
oxybuprocaine pharmacodynamics pathway  (EXP)
oxycodone pharmacodynamics pathway  (EXP)
oxymorphone pharmacodynamics pathway  (EXP)
pentazocine pharmacodynamics pathway  (EXP)
prilocaine pharmacodynamics pathway  (EXP)
procaine pharmacodynamics pathway  (EXP)
remifentanil pharmacodynamics pathway  (EXP)
ropivacaine pharmacodynamics pathway  (EXP)
tramadol pharmacodynamics pathway  (EXP)
venlafaxine pharmacokinetics pathway  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:2008212   PMID:7488042   PMID:7905857   PMID:8478011   PMID:9655936   PMID:9808705   PMID:10037744   PMID:11343649   PMID:11707293   PMID:11739781   PMID:11744160   PMID:11875370  
PMID:11920844   PMID:11927173   PMID:12097806   PMID:12127072   PMID:12140790   PMID:12210281   PMID:12210284   PMID:12374639   PMID:12401556   PMID:12477932   PMID:12480177   PMID:12589229  
PMID:12629174   PMID:12787070   PMID:12805287   PMID:14620922   PMID:14675164   PMID:14726430   PMID:15118352   PMID:15135235   PMID:15138209   PMID:15322419   PMID:15337646   PMID:15362567  
PMID:15485485   PMID:15539861   PMID:15717291   PMID:15719398   PMID:15722184   PMID:15757904   PMID:15763138   PMID:15763139   PMID:15900230   PMID:15946904   PMID:15963952   PMID:16024787  
PMID:16092934   PMID:16189177   PMID:16242784   PMID:16272960   PMID:16344560   PMID:16538182   PMID:16573647   PMID:16712949   PMID:16741933   PMID:16848906   PMID:16965261   PMID:16969268  
PMID:17032905   PMID:17146058   PMID:17156375   PMID:17239355   PMID:17353941   PMID:17404580   PMID:17428804   PMID:17475971   PMID:17621171   PMID:17630229   PMID:17654409   PMID:17845831  
PMID:17876324   PMID:17917281   PMID:17920180   PMID:17955457   PMID:17994190   PMID:18029348   PMID:18081710   PMID:18085566   PMID:18089827   PMID:18163388   PMID:18187607   PMID:18196892  
PMID:18197080   PMID:18214863   PMID:18259012   PMID:18331289   PMID:18511195   PMID:18552510   PMID:18591486   PMID:18617423   PMID:18629431   PMID:18702937   PMID:18779921   PMID:18821564  
PMID:18821565   PMID:18821566   PMID:18937296   PMID:18937309   PMID:19058789   PMID:19086053   PMID:19095219   PMID:19105200   PMID:19352218   PMID:19365399   PMID:19387424   PMID:19468717  
PMID:19506906   PMID:19564048   PMID:19649213   PMID:19685476   PMID:19693267   PMID:19698724   PMID:19721846   PMID:19727679   PMID:19808400   PMID:19844206   PMID:19858760   PMID:19874574  
PMID:19913121   PMID:19944766   PMID:20017301   PMID:20332182   PMID:20351714   PMID:20398908   PMID:20424473   PMID:20468064   PMID:20491280   PMID:20588071   PMID:20628086   PMID:20681272  
PMID:20691427   PMID:20700532   PMID:20818294   PMID:20863575   PMID:20929549   PMID:21070505   PMID:21149640   PMID:21412203   PMID:21416264   PMID:21498515   PMID:21569456   PMID:21739117  
PMID:21873635   PMID:21883217   PMID:21885739   PMID:22234472   PMID:22297068   PMID:22311378   PMID:22405810   PMID:22533655   PMID:22544311   PMID:22591463   PMID:22723437   PMID:23052569  
PMID:23086945   PMID:23185385   PMID:23266789   PMID:23648227   PMID:23809226   PMID:23969988   PMID:23979140   PMID:24346757   PMID:24374057   PMID:24381062   PMID:24565995   PMID:24573553  
PMID:24655776   PMID:25295552   PMID:25338091   PMID:25512257   PMID:25554436   PMID:25650523   PMID:25831948   PMID:25919853   PMID:26051731   PMID:26061302   PMID:26212818   PMID:26508020  
PMID:26678348   PMID:26786096   PMID:26960194   PMID:27046647   PMID:27844334   PMID:28068779   PMID:28176268   PMID:28352654   PMID:28418735   PMID:28454051   PMID:28737436   PMID:29198060  
PMID:29374517   PMID:29431473   PMID:29677047   PMID:30238915   PMID:30292339   PMID:30341278   PMID:31377977   PMID:31383926   PMID:31732713   PMID:32339102   PMID:32459709   PMID:33290143  
PMID:33529804   PMID:34112854   PMID:34203885   PMID:34445205  


Genomics

Comparative Map Data
SLC6A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1655,655,988 - 55,707,645 (+)EnsemblGRCh38hg38GRCh38
GRCh381655,655,928 - 55,706,192 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371655,689,900 - 55,740,104 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361654,248,057 - 54,295,201 (+)NCBINCBI36hg18NCBI36
Build 341654,248,058 - 54,293,992NCBI
Celera1640,203,750 - 40,254,437 (+)NCBI
Cytogenetic Map16q12.2NCBI
HuRef1641,576,866 - 41,627,544 (+)NCBIHuRef
CHM1_11657,096,804 - 57,147,472 (+)NCBICHM1_1
Slc6a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39893,687,100 - 93,728,295 (+)NCBIGRCm39mm39
GRCm39 Ensembl893,686,707 - 93,728,295 (+)Ensembl
GRCm38892,960,470 - 93,001,667 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl892,960,079 - 93,001,667 (+)EnsemblGRCm38mm10GRCm38
MGSCv37895,484,946 - 95,525,566 (+)NCBIGRCm37mm9NCBIm37
MGSCv36895,850,358 - 95,890,795 (+)NCBImm8
Celera897,290,444 - 97,331,118 (+)NCBICelera
Cytogenetic Map8C5NCBI
cM Map844.99NCBI
Slc6a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21914,010,292 - 14,055,317 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1914,010,386 - 14,050,357 (-)Ensembl
Rnor_6.01915,391,682 - 15,431,274 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1915,391,581 - 15,431,274 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01926,487,820 - 26,527,769 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41915,098,281 - 15,139,898 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11915,103,106 - 15,144,724 (-)NCBI
Celera1913,934,272 - 13,973,888 (-)NCBICelera
Cytogenetic Map19p11NCBI
Slc6a2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543313,170,699 - 13,216,330 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543313,170,986 - 13,216,270 (+)NCBIChiLan1.0ChiLan1.0
SLC6A2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11654,990,694 - 55,040,510 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1654,990,773 - 55,040,504 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01635,885,756 - 35,935,638 (+)NCBIMhudiblu_PPA_v0panPan3
SLC6A2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1260,319,304 - 60,362,532 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl260,318,999 - 60,363,120 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha256,952,622 - 56,995,852 (-)NCBI
ROS_Cfam_1.0260,864,357 - 60,907,590 (-)NCBI
UMICH_Zoey_3.1257,691,521 - 57,734,761 (-)NCBI
UNSW_CanFamBas_1.0258,709,413 - 58,758,960 (-)NCBI
UU_Cfam_GSD_1.0259,594,439 - 59,637,674 (-)NCBI
Slc6a2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934951,615,383 - 51,651,300 (-)NCBI
SpeTri2.0NW_0049364757,937,920 - 7,973,563 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC6A2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl629,931,664 - 29,980,823 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1629,931,650 - 29,981,636 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2627,398,949 - 27,454,595 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC6A2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1541,434,004 - 41,482,568 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl541,435,387 - 41,483,643 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604734,861,536 - 34,911,611 (-)NCBIVero_WHO_p1.0
Slc6a2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247571,292,811 - 1,332,868 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D16S3351  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371655,739,757 - 55,739,893UniSTSGRCh37
Build 361654,297,258 - 54,297,394RGDNCBI36
Celera1640,254,090 - 40,254,226RGD
Cytogenetic Map16q12.2UniSTS
HuRef1641,627,197 - 41,627,333UniSTS
SHGC-149089  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371655,702,628 - 55,702,927UniSTSGRCh37
Build 361654,260,129 - 54,260,428RGDNCBI36
Celera1640,216,852 - 40,217,151RGD
Cytogenetic Map16q12.2UniSTS
HuRef1641,589,967 - 41,590,266UniSTS
TNG Radiation Hybrid Map1622808.0UniSTS
SHGC-155920  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371655,726,340 - 55,726,669UniSTSGRCh37
Build 361654,283,841 - 54,284,170RGDNCBI36
Celera1640,240,672 - 40,241,001RGD
Cytogenetic Map16q12.2UniSTS
HuRef1641,613,780 - 41,614,109UniSTS
TNG Radiation Hybrid Map1622831.0UniSTS
SHGC-61051  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371655,736,449 - 55,736,597UniSTSGRCh37
Build 361654,293,950 - 54,294,098RGDNCBI36
Celera1640,250,781 - 40,250,929RGD
Cytogenetic Map16q12.2UniSTS
HuRef1641,623,889 - 41,624,037UniSTS
TNG Radiation Hybrid Map1622831.0UniSTS
GeneMap99-GB4 RH Map16354.26UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3669
Count of miRNA genes:925
Interacting mature miRNAs:1105
Transcripts:ENST00000219833, ENST00000379906, ENST00000414754, ENST00000561820, ENST00000566163, ENST00000567238, ENST00000568529, ENST00000568655, ENST00000568943, ENST00000574918
Prediction methods: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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 21 9 1 9 5 1 19 6 25 6 1
Low 498 19 125 56 13 32 1579 458 52 67 533 43 29 657 584 2
Below cutoff 1605 1521 895 399 438 267 2135 1149 2315 192 708 793 139 542 1707 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_933403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB022846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB022847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC136621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF061198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU132072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC060831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA853047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M65105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000219833   ⟹   ENSP00000219833
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1655,656,254 - 55,706,192 (+)Ensembl
RefSeq Acc Id: ENST00000379906   ⟹   ENSP00000369237
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1655,656,440 - 55,703,788 (+)Ensembl
RefSeq Acc Id: ENST00000414754   ⟹   ENSP00000394956
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1655,656,110 - 55,703,750 (+)Ensembl
RefSeq Acc Id: ENST00000561820   ⟹   ENSP00000454439
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1655,656,618 - 55,705,648 (+)Ensembl
RefSeq Acc Id: ENST00000566163   ⟹   ENSP00000456210
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1655,656,655 - 55,702,346 (+)Ensembl
RefSeq Acc Id: ENST00000567238   ⟹   ENSP00000457375
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1655,671,671 - 55,703,791 (+)Ensembl
RefSeq Acc Id: ENST00000568529   ⟹   ENSP00000456377
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1655,656,086 - 55,694,113 (+)Ensembl
RefSeq Acc Id: ENST00000568655   ⟹   ENSP00000454603
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1655,656,254 - 55,672,131 (+)Ensembl
RefSeq Acc Id: ENST00000568943   ⟹   ENSP00000457473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1655,655,988 - 55,706,192 (+)Ensembl
RefSeq Acc Id: ENST00000574918   ⟹   ENSP00000460214
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1655,656,254 - 55,706,240 (+)Ensembl
RefSeq Acc Id: ENST00000682050   ⟹   ENSP00000508367
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1655,656,254 - 55,707,645 (+)Ensembl
RefSeq Acc Id: NM_001043   ⟹   NP_001034
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381655,656,440 - 55,703,788 (+)NCBI
GRCh371655,689,542 - 55,740,104 (+)ENTREZGENE
Build 361654,248,057 - 54,295,201 (+)NCBI Archive
HuRef1641,576,866 - 41,627,544 (+)ENTREZGENE
CHM1_11657,097,614 - 57,145,068 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001172501   ⟹   NP_001165972
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381655,655,988 - 55,706,192 (+)NCBI
GRCh371655,689,542 - 55,740,104 (+)ENTREZGENE
HuRef1641,576,866 - 41,627,544 (+)ENTREZGENE
CHM1_11657,096,804 - 57,145,068 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001172502   ⟹   NP_001165973
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381655,671,671 - 55,703,788 (+)NCBI
GRCh371655,689,542 - 55,740,104 (+)ENTREZGENE
HuRef1641,576,866 - 41,627,544 (+)ENTREZGENE
CHM1_11657,112,845 - 57,145,068 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001172504   ⟹   NP_001165975
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381655,656,644 - 55,706,192 (+)NCBI
GRCh371655,689,542 - 55,740,104 (+)ENTREZGENE
HuRef1641,576,866 - 41,627,544 (+)ENTREZGENE
CHM1_11657,097,818 - 57,147,472 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006721263   ⟹   XP_006721326
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381655,656,254 - 55,706,192 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523295   ⟹   XP_011521597
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381655,655,928 - 55,706,192 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523296   ⟹   XP_011521598
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381655,655,928 - 55,706,192 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523297   ⟹   XP_011521599
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381655,655,928 - 55,706,186 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523298   ⟹   XP_011521600
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381655,655,928 - 55,698,020 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523299   ⟹   XP_011521601
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381655,671,662 - 55,706,186 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523300   ⟹   XP_011521602
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381655,669,710 - 55,706,186 (+)NCBI
Sequence:
RefSeq Acc Id: XR_933403
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381655,655,928 - 55,706,186 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001165972   ⟸   NM_001172501
- Peptide Label: isoform 2
- UniProtKB: P23975 (UniProtKB/Swiss-Prot),   A0A024R6T9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001034   ⟸   NM_001043
- Peptide Label: isoform 2
- UniProtKB: P23975 (UniProtKB/Swiss-Prot),   A0A024R6T9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001165975   ⟸   NM_001172504
- Peptide Label: isoform 1
- UniProtKB: P23975 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001165973   ⟸   NM_001172502
- Peptide Label: isoform 3
- UniProtKB: P23975 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006721326   ⟸   XM_006721263
- Peptide Label: isoform X1
- UniProtKB: P23975 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011521597   ⟸   XM_011523295
- Peptide Label: isoform X1
- UniProtKB: P23975 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011521598   ⟸   XM_011523296
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011521599   ⟸   XM_011523297
- Peptide Label: isoform X3
- UniProtKB: H3BRE9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011521600   ⟸   XM_011523298
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011521602   ⟸   XM_011523300
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011521601   ⟸   XM_011523299
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: ENSP00000394956   ⟸   ENST00000414754
RefSeq Acc Id: ENSP00000219833   ⟸   ENST00000219833
RefSeq Acc Id: ENSP00000460214   ⟸   ENST00000574918
RefSeq Acc Id: ENSP00000454439   ⟸   ENST00000561820
RefSeq Acc Id: ENSP00000369237   ⟸   ENST00000379906
RefSeq Acc Id: ENSP00000456210   ⟸   ENST00000566163
RefSeq Acc Id: ENSP00000457375   ⟸   ENST00000567238
RefSeq Acc Id: ENSP00000457473   ⟸   ENST00000568943
RefSeq Acc Id: ENSP00000454603   ⟸   ENST00000568655
RefSeq Acc Id: ENSP00000456377   ⟸   ENST00000568529
RefSeq Acc Id: ENSP00000508367   ⟸   ENST00000682050

Promoters
RGD ID:7232243
Promoter ID:EPDNEW_H21867
Type:initiation region
Name:SLC6A2_1
Description:solute carrier family 6 member 2
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
GRCh381655,655,540 - 55,655,600EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001172501.3(SLC6A2):c.1369G>C (p.Ala457Pro) single nucleotide variant Orthostatic intolerance [RCV000015043] Chr16:55698005 [GRCh38]
Chr16:55731917 [GRCh37]
Chr16:16q12.2
pathogenic
NM_001172504.1(SLC6A2):c.1711A>G (p.Ile571Val) single nucleotide variant Malignant melanoma [RCV000071162] Chr16:55700259 [GRCh38]
Chr16:55734171 [GRCh37]
Chr16:54291672 [NCBI36]
Chr16:16q12.2
not provided
GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1 copy number loss See cases [RCV000133738] Chr16:55457477..63841622 [GRCh38]
Chr16:55491389..63875526 [GRCh37]
Chr16:54048890..62433027 [NCBI36]
Chr16:16q12.2-21
pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3
pathogenic
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 copy number gain See cases [RCV000143752] Chr16:49685521..68401712 [GRCh38]
Chr16:49719432..68435615 [GRCh37]
Chr16:48276933..66993116 [NCBI36]
Chr16:16q12.1-22.1
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3
uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1 copy number loss Ductal breast carcinoma [RCV000207067] Chr16:55359026..70884455 [GRCh37]
Chr16:16q12.2-22.2
likely pathogenic|uncertain significance
NM_001172504.1(SLC6A2):c.1831-1445G>A single nucleotide variant Orthostatic intolerance [RCV000300353] Chr16:55703771 [GRCh38]
Chr16:55737683 [GRCh37]
Chr16:16q12.2
likely benign
NM_001043.3(SLC6A2):c.-182C>T single nucleotide variant Orthostatic intolerance [RCV000264953] Chr16:55656513 [GRCh38]
Chr16:55690425 [GRCh37]
Chr16:16q12.2
likely benign
NM_001172504.1(SLC6A2):c.1344C>T (p.Gly448=) single nucleotide variant Orthostatic intolerance [RCV000301734] Chr16:55697980 [GRCh38]
Chr16:55731892 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172504.1(SLC6A2):c.1830+829T>A single nucleotide variant Orthostatic intolerance [RCV000301897] Chr16:55702763 [GRCh38]
Chr16:55736675 [GRCh37]
Chr16:16q12.2
likely benign
NM_001172504.1(SLC6A2):c.1401C>T (p.Tyr467=) single nucleotide variant not provided [RCV000931159] Chr16:55698480 [GRCh38]
Chr16:55732392 [GRCh37]
Chr16:16q12.2
likely benign|uncertain significance
NM_001172504.1(SLC6A2):c.1831-1608G>A single nucleotide variant Orthostatic intolerance [RCV000284987] Chr16:55703608 [GRCh38]
Chr16:55737520 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172504.1(SLC6A2):c.48G>C (p.Gly16=) single nucleotide variant Orthostatic intolerance [RCV000268557] Chr16:55656742 [GRCh38]
Chr16:55690654 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172504.1(SLC6A2):c.1465G>A (p.Ala489Thr) single nucleotide variant Orthostatic intolerance [RCV000305342] Chr16:55698544 [GRCh38]
Chr16:55732456 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172504.1(SLC6A2):c.1646T>C (p.Ile549Thr) single nucleotide variant Orthostatic intolerance [RCV000270081] Chr16:55700194 [GRCh38]
Chr16:55734106 [GRCh37]
Chr16:16q12.2
likely benign
NM_001172504.1(SLC6A2):c.407-12G>A single nucleotide variant Orthostatic intolerance [RCV000290918] Chr16:55671926 [GRCh38]
Chr16:55705838 [GRCh37]
Chr16:16q12.2
likely benign
NM_001172504.1(SLC6A2):c.1830+484C>T single nucleotide variant Orthostatic intolerance [RCV000273731] Chr16:55702418 [GRCh38]
Chr16:55736330 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172504.1(SLC6A2):c.1830+1362C>A single nucleotide variant Orthostatic intolerance [RCV000292304] Chr16:55703296 [GRCh38]
Chr16:55737208 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172504.1(SLC6A2):c.1830+1263T>A single nucleotide variant Orthostatic intolerance [RCV000277155] Chr16:55703197 [GRCh38]
Chr16:55737109 [GRCh37]
Chr16:16q12.2
likely benign
NM_001172504.1(SLC6A2):c.1830+538C>A single nucleotide variant Orthostatic intolerance [RCV000296017] Chr16:55702472 [GRCh38]
Chr16:55736384 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172504.1(SLC6A2):c.1830+1076C>T single nucleotide variant Orthostatic intolerance [RCV000261758] Chr16:55703010 [GRCh38]
Chr16:55736922 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172504.1(SLC6A2):c.955T>C (p.Leu319=) single nucleotide variant Orthostatic intolerance [RCV000297846] Chr16:55694046 [GRCh38]
Chr16:55727958 [GRCh37]
Chr16:16q12.2
likely benign
NM_001172504.1(SLC6A2):c.1830+783G>A single nucleotide variant Orthostatic intolerance [RCV000280898] Chr16:55702717 [GRCh38]
Chr16:55736629 [GRCh37]
Chr16:16q12.2
likely benign
NM_001172504.1(SLC6A2):c.1830+1435C>A single nucleotide variant Orthostatic intolerance [RCV000343365] Chr16:55703369 [GRCh38]
Chr16:55737281 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172504.1(SLC6A2):c.-36C>G single nucleotide variant Orthostatic intolerance [RCV000322285] Chr16:55656659 [GRCh38]
Chr16:55690571 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172504.1(SLC6A2):c.1830+828C>A single nucleotide variant Orthostatic intolerance [RCV000394174] Chr16:55702762 [GRCh38]
Chr16:55736674 [GRCh37]
Chr16:16q12.2
likely benign
NM_001172504.1(SLC6A2):c.918+11A>G single nucleotide variant Orthostatic intolerance [RCV000394953] Chr16:55692063 [GRCh38]
Chr16:55725975 [GRCh37]
Chr16:16q12.2
likely benign
null single nucleotide variant not provided [RCV001696433] Chr16:55697923 [GRCh38]
Chr16:55731835 [GRCh37]
Chr16:16q12.2
benign|likely benign
NM_001172504.1(SLC6A2):c.856G>A (p.Gly286Arg) single nucleotide variant Orthostatic intolerance [RCV000294363] Chr16:55691990 [GRCh38]
Chr16:55725902 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172504.1(SLC6A2):c.646C>T (p.Arg216Cys) single nucleotide variant Orthostatic intolerance [RCV000347646] Chr16:55685144 [GRCh38]
Chr16:55719056 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172501.3(SLC6A2):c.*414_*415insC insertion Orthostatic intolerance [RCV000305476] Chr16:55702760..55702761 [GRCh38]
Chr16:55736672..55736673 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172501.3(SLC6A2):c.1801G>C (p.Val601Leu) single nucleotide variant not provided [RCV001489264] Chr16:55701905 [GRCh38]
Chr16:55735817 [GRCh37]
Chr16:16q12.2
likely benign|uncertain significance
NM_001172501.3(SLC6A2):c.*306C>T single nucleotide variant Orthostatic intolerance [RCV000373002] Chr16:55702652 [GRCh38]
Chr16:55736564 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172504.1(SLC6A2):c.1830+1189G>A single nucleotide variant Orthostatic intolerance [RCV000317004] Chr16:55703123 [GRCh38]
Chr16:55737035 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172504.1(SLC6A2):c.1830+1410A>C single nucleotide variant Orthostatic intolerance [RCV000328220] Chr16:55703344 [GRCh38]
Chr16:55737256 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172504.1(SLC6A2):c.866A>G (p.Asn289Ser) single nucleotide variant Orthostatic intolerance [RCV000351579] Chr16:55692000 [GRCh38]
Chr16:55725912 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172504.1(SLC6A2):c.52G>C (p.Asp18His) single nucleotide variant Orthostatic intolerance [RCV000325931] Chr16:55656746 [GRCh38]
Chr16:55690658 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172504.1(SLC6A2):c.1830+1247G>A single nucleotide variant Orthostatic intolerance [RCV000353150] Chr16:55703181 [GRCh38]
Chr16:55737093 [GRCh37]
Chr16:16q12.2
likely benign
NM_001172504.1(SLC6A2):c.21C>A (p.Asn7Lys) single nucleotide variant Orthostatic intolerance [RCV000379258] Chr16:55656715 [GRCh38]
Chr16:55690627 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172504.1(SLC6A2):c.1830+810T>C single nucleotide variant Orthostatic intolerance [RCV000403771] Chr16:55702744 [GRCh38]
Chr16:55736656 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172504.1(SLC6A2):c.1831-1437C>T single nucleotide variant Orthostatic intolerance [RCV000355154] Chr16:55703779 [GRCh38]
Chr16:55737691 [GRCh37]
Chr16:16q12.2
likely benign
NM_001172504.1(SLC6A2):c.1830+1331_1830+1333del deletion Orthostatic intolerance [RCV000386630] Chr16:55703264..55703266 [GRCh38]
Chr16:55737176..55737178 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172504.1(SLC6A2):c.1830+1018T>C single nucleotide variant Orthostatic intolerance [RCV000356552] Chr16:55702952 [GRCh38]
Chr16:55736864 [GRCh37]
Chr16:16q12.2
likely benign
NM_001043.3(SLC6A2):c.-190A>T single nucleotide variant Orthostatic intolerance [RCV000357385] Chr16:55656505 [GRCh38]
Chr16:55690417 [GRCh37]
Chr16:16q12.2
likely benign
NM_001172504.1(SLC6A2):c.1830+813_1830+814insCA insertion Orthostatic intolerance [RCV000394190] Chr16:55702747..55702748 [GRCh38]
Chr16:55736659..55736660 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172504.1(SLC6A2):c.1830+1587A>G single nucleotide variant Orthostatic intolerance [RCV000402491] Chr16:55703521 [GRCh38]
Chr16:55737433 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001689256] Chr16:55698034 [GRCh38]
Chr16:55731946 [GRCh37]
Chr16:16q12.2
benign|likely benign
NM_001172504.1(SLC6A2):c.1830+1418A>G single nucleotide variant Orthostatic intolerance [RCV000382826] Chr16:55703352 [GRCh38]
Chr16:55737264 [GRCh37]
Chr16:16q12.2
likely benign
NM_001172504.1(SLC6A2):c.1148-13A>C single nucleotide variant Orthostatic intolerance [RCV000336335] Chr16:55696212 [GRCh38]
Chr16:55730124 [GRCh37]
Chr16:16q12.2
likely benign
NM_001172501.3(SLC6A2):c.*416del deletion Orthostatic intolerance [RCV000360235] Chr16:55702762 [GRCh38]
Chr16:55736674 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172504.1(SLC6A2):c.1830+411G>A single nucleotide variant Orthostatic intolerance [RCV000384287] Chr16:55702345 [GRCh38]
Chr16:55736257 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172501.3(SLC6A2):c.848C>G (p.Thr283Arg) single nucleotide variant not provided [RCV000887054] Chr16:55691982 [GRCh38]
Chr16:55725894 [GRCh37]
Chr16:16q12.2
benign|likely benign
NM_001172504.1(SLC6A2):c.1830+681C>T single nucleotide variant Orthostatic intolerance [RCV000316089] Chr16:55702615 [GRCh38]
Chr16:55736527 [GRCh37]
Chr16:16q12.2
likely benign
NM_001172504.1(SLC6A2):c.1489+9G>A single nucleotide variant Orthostatic intolerance [RCV000362117] Chr16:55698577 [GRCh38]
Chr16:55732489 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172504.1(SLC6A2):c.1831-1472G>A single nucleotide variant Orthostatic intolerance [RCV000340017] Chr16:55703744 [GRCh38]
Chr16:55737656 [GRCh37]
Chr16:16q12.2
likely benign
NM_001172504.1(SLC6A2):c.1830+503C>T single nucleotide variant Orthostatic intolerance [RCV000387921] Chr16:55702437 [GRCh38]
Chr16:55736349 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172501.3(SLC6A2):c.1584C>G (p.Phe528Leu) single nucleotide variant SLC6A2-related disorder [RCV000509239]|not provided [RCV000490050] Chr16:55699648 [GRCh38]
Chr16:55733560 [GRCh37]
Chr16:16q12.2
uncertain significance|not provided
NM_001172501.3(SLC6A2):c.*414_*415dup duplication Orthostatic intolerance [RCV000345227] Chr16:55702747..55702748 [GRCh38]
Chr16:55736659..55736660 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172504.1(SLC6A2):c.1830+499G>A single nucleotide variant Orthostatic intolerance [RCV000331189] Chr16:55702433 [GRCh38]
Chr16:55736345 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172504.1(SLC6A2):c.1830+1287G>A single nucleotide variant Orthostatic intolerance [RCV000332143] Chr16:55703221 [GRCh38]
Chr16:55737133 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172504.1(SLC6A2):c.275-15C>T single nucleotide variant Orthostatic intolerance [RCV000382971] Chr16:55669550 [GRCh38]
Chr16:55703462 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172504.1(SLC6A2):c.1830+808_1830+809dup duplication Orthostatic intolerance [RCV000338319] Chr16:55702739..55702740 [GRCh38]
Chr16:55736651..55736652 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172501.3(SLC6A2):c.*1017G>A single nucleotide variant Orthostatic intolerance [RCV000288418] Chr16:55703363 [GRCh38]
Chr16:55737275 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172504.1(SLC6A2):c.1831-1448G>T single nucleotide variant Orthostatic intolerance [RCV000396219] Chr16:55703768 [GRCh38]
Chr16:55737680 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_001172501.3(SLC6A2):c.*415dup duplication Orthostatic intolerance [RCV000290320] Chr16:55702747..55702748 [GRCh38]
Chr16:55736659..55736660 [GRCh37]
Chr16:16q12.2
likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3 copy number gain See cases [RCV000511791] Chr16:34197492..64509054 [GRCh37]
Chr16:16p11.2-q21
pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 copy number gain not provided [RCV000683820] Chr16:54416050..72453266 [GRCh37]
Chr16:16q12.2-22.2
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_001172501.3(SLC6A2):c.296C>T (p.Thr99Ile) single nucleotide variant not provided [RCV000958718] Chr16:55669586 [GRCh38]
Chr16:55703498 [GRCh37]
Chr16:16q12.2
benign
NM_001172501.3(SLC6A2):c.1368C>T (p.Leu456=) single nucleotide variant not provided [RCV000966004] Chr16:55698004 [GRCh38]
Chr16:55731916 [GRCh37]
Chr16:16q12.2
benign
NM_001172504.1(SLC6A2):c.120C>T (p.Asn40=) single nucleotide variant not provided [RCV000923958] Chr16:55656814 [GRCh38]
Chr16:55690726 [GRCh37]
Chr16:16q12.2
likely benign
NM_001172501.3(SLC6A2):c.1779G>A (p.Thr593=) single nucleotide variant not provided [RCV000950466] Chr16:55701883 [GRCh38]
Chr16:55735795 [GRCh37]
Chr16:16q12.2
benign
NM_001172501.3(SLC6A2):c.1245G>T (p.Leu415=) single nucleotide variant not provided [RCV000902542] Chr16:55696322 [GRCh38]
Chr16:55730234 [GRCh37]
Chr16:16q12.2
likely benign
NM_001172504.1(SLC6A2):c.1410C>A (p.Thr470=) single nucleotide variant not provided [RCV000927503] Chr16:55698489 [GRCh38]
Chr16:55732401 [GRCh37]
Chr16:16q12.2
likely benign
NM_001172501.3(SLC6A2):c.843C>T (p.Gly281=) single nucleotide variant not provided [RCV000983102] Chr16:55691977 [GRCh38]
Chr16:55725889 [GRCh37]
Chr16:16q12.2
likely benign
NM_001172501.3(SLC6A2):c.117C>T (p.Arg39=) single nucleotide variant not provided [RCV000902246] Chr16:55656811 [GRCh38]
Chr16:55690723 [GRCh37]
Chr16:16q12.2
benign
NM_001172501.3(SLC6A2):c.624G>A (p.Thr208=) single nucleotide variant not provided [RCV000902524] Chr16:55672155 [GRCh38]
Chr16:55706067 [GRCh37]
Chr16:16q12.2
likely benign
NM_001172501.3(SLC6A2):c.733G>A (p.Val245Ile) single nucleotide variant not provided [RCV000948438] Chr16:55685231 [GRCh38]
Chr16:55719143 [GRCh37]
Chr16:16q12.2
benign
NM_001172504.1(SLC6A2):c.582C>T (p.Ser194=) single nucleotide variant not provided [RCV000923246] Chr16:55672113 [GRCh38]
Chr16:55706025 [GRCh37]
Chr16:16q12.2
likely benign
NM_001172501.3(SLC6A2):c.1826T>A (p.Phe609Tyr) single nucleotide variant not provided [RCV000914061] Chr16:55701930 [GRCh38]
Chr16:55735842 [GRCh37]
Chr16:16q12.2
benign
GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3 copy number gain not provided [RCV000848548] Chr16:53455650..64006604 [GRCh37]
Chr16:16q12.2-21
uncertain significance
NM_001172501.3(SLC6A2):c.1147+4G>A single nucleotide variant not provided [RCV000910568] Chr16:55695406 [GRCh38]
Chr16:55729318 [GRCh37]
Chr16:16q12.2
likely benign
NM_001172501.3(SLC6A2):c.426C>T (p.Ile142=) single nucleotide variant not provided [RCV000909998] Chr16:55671957 [GRCh38]
Chr16:55705869 [GRCh37]
Chr16:16q12.2
likely benign
NM_001172501.3(SLC6A2):c.1023G>A (p.Arg341=) single nucleotide variant not provided [RCV000896691] Chr16:55695278 [GRCh38]
Chr16:55729190 [GRCh37]
Chr16:16q12.2
benign
NM_001172501.3(SLC6A2):c.840T>C (p.His280=) single nucleotide variant not provided [RCV000976176] Chr16:55691974 [GRCh38]
Chr16:55725886 [GRCh37]
Chr16:16q12.2
likely benign
NM_001172501.3(SLC6A2):c.690C>T (p.Ile230=) single nucleotide variant not provided [RCV000915264] Chr16:55685188 [GRCh38]
Chr16:55719100 [GRCh37]
Chr16:16q12.2
likely benign
NM_001172504.1(SLC6A2):c.111G>A (p.Lys37=) single nucleotide variant not provided [RCV000934593] Chr16:55656805 [GRCh38]
Chr16:55690717 [GRCh37]
Chr16:16q12.2
likely benign
NM_001172501.3(SLC6A2):c.1833G>A (p.Leu611=) single nucleotide variant not provided [RCV000913160] Chr16:55702325 [GRCh38]
Chr16:55736237 [GRCh37]
Chr16:16q12.2
likely benign
Single allele duplication not provided [RCV001542388] Chr16:46385317..61223349 [GRCh38]
Chr16:16q11.2-21
pathogenic
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001655396] Chr16:55660998 [GRCh38]
Chr16:55694910 [GRCh37]
Chr16:16q12.2
benign
NM_000334.4(SCN4A):c.318C>T (p.Ser106=) single nucleotide variant not provided [RCV001723316] Chr16:55671848 [GRCh38]
Chr16:55705760 [GRCh37]
Chr16:16q12.2
likely benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001656435] Chr16:55661256 [GRCh38]
Chr16:55695168 [GRCh37]
Chr16:16q12.2
benign
NM_001172501.3(SLC6A2):c.1022+5G>C single nucleotide variant not provided [RCV001356282] Chr16:55694118 [GRCh38]
Chr16:55728030 [GRCh37]
Chr16:16q12.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11048 AgrOrtholog
COSMIC SLC6A2 COSMIC
Ensembl Genes ENSG00000103546 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000219833 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000369237 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000394956 UniProtKB/TrEMBL
  ENSP00000454439 UniProtKB/TrEMBL
  ENSP00000456210 UniProtKB/TrEMBL
  ENSP00000456377 UniProtKB/TrEMBL
  ENSP00000457375 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000457473 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000460214 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000508367 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000219833 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000379906 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000414754 UniProtKB/TrEMBL
  ENST00000561820 UniProtKB/TrEMBL
  ENST00000566163 UniProtKB/TrEMBL
  ENST00000567238 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000568529 UniProtKB/TrEMBL
  ENST00000568943 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000574918 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000682050 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000103546 GTEx
HGNC ID HGNC:11048 ENTREZGENE
Human Proteome Map SLC6A2 Human Proteome Map
InterPro Na/ntran_symport UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Na/ntran_symport_noradrenaline UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNS_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6530 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6530 ENTREZGENE
OMIM 163970 OMIM
  604715 OMIM
PANTHER PTHR11616 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SNF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA310 PharmGKB, RGD
PRINTS NANEUSMPORT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NORTRANSPORT 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 A0A024R6T9 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HLI4_HUMAN UniProtKB/TrEMBL
  H3BM11_HUMAN UniProtKB/TrEMBL
  H3BML6_HUMAN UniProtKB/TrEMBL
  H3BRE9 ENTREZGENE, UniProtKB/TrEMBL
  H3BRS0_HUMAN UniProtKB/TrEMBL
  I3L368_HUMAN UniProtKB/TrEMBL
  P23975 ENTREZGENE
  Q9BW84_HUMAN UniProtKB/TrEMBL
  SC6A2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2R707 UniProtKB/Swiss-Prot
  B4DX48 UniProtKB/Swiss-Prot
  Q96KH8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-08 SLC6A2  solute carrier family 6 member 2    solute carrier family 6 (neurotransmitter transporter), member 2  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC6A2  solute carrier family 6 (neurotransmitter transporter), member 2    solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2  Symbol and/or name change 5135510 APPROVED