SLC7A6 (solute carrier family 7 member 6) - Rat Genome Database

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Gene: SLC7A6 (solute carrier family 7 member 6) Homo sapiens
Analyze
Symbol: SLC7A6
Name: solute carrier family 7 member 6
RGD ID: 1319397
HGNC Page HGNC:11064
Description: Enables basic amino acid transmembrane transporter activity. Involved in basic amino acid transmembrane transport and ornithine transport. Located in intracellular membrane-bounded organelle and plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: amino acid permease; cationic amino acid transporter, y+ system; DKFZp686K15246; KIAA0245; LAT-2; LAT3; solute carrier family 7 (amino acid transporter light chain, y+L system), member 6; solute carrier family 7 (cationic amino acid transporter, y+ system), member 6; y(+)L-type amino acid transporter 2; Y+L amino acid transporter 2; y+LAT-2; y+LAT2
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381668,264,526 - 68,301,819 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1668,264,516 - 68,301,823 (+)EnsemblGRCh38hg38GRCh38
GRCh371668,298,429 - 68,335,722 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361666,855,924 - 66,893,223 (+)NCBINCBI36Build 36hg18NCBI36
Build 341666,855,933 - 66,893,222NCBI
Celera1652,806,916 - 52,844,230 (+)NCBICelera
Cytogenetic Map16q22.1NCBI
HuRef1654,171,419 - 54,208,888 (+)NCBIHuRef
CHM1_11669,706,452 - 69,743,751 (+)NCBICHM1_1
T2T-CHM13v2.01674,060,279 - 74,097,601 (+)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
(-)-alpha-phellandrene  (EXP)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,2-dichloroethane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
alpha-phellandrene  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
butanal  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
choline  (ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP)
cylindrospermopsin  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
estriol  (ISO)
ethyl methanesulfonate  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
fulvestrant  (EXP)
heptachlor  (ISO)
indometacin  (EXP)
inulin  (ISO)
L-methionine  (ISO)
leflunomide  (EXP)
lipopolysaccharide  (EXP)
methapyrilene  (EXP)
methyl methanesulfonate  (EXP)
mirex  (ISO)
ozone  (ISO)
paracetamol  (ISO)
PCB138  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenylmercury acetate  (EXP)
resveratrol  (EXP)
rotenone  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
tamoxifen  (ISO)
testosterone  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
troglitazone  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
membrane  (IEA)
plasma membrane  (IEA,TAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9039502   PMID:9829974   PMID:9878049   PMID:10903140   PMID:11311135   PMID:12477932   PMID:15342556   PMID:15756301   PMID:15901826   PMID:16344560   PMID:16785209   PMID:17197568  
PMID:18195088   PMID:19443642   PMID:19562367   PMID:21873635   PMID:21886157   PMID:22007000   PMID:23221699   PMID:24052624   PMID:24142711   PMID:24816252   PMID:25056061   PMID:26760575  
PMID:28514442   PMID:29117863   PMID:31345230   PMID:31705628   PMID:31871319   PMID:32296183   PMID:32513696   PMID:33845483   PMID:33961781   PMID:34050700   PMID:34079125   PMID:35271311  
PMID:35314791   PMID:36114006  


Genomics

Comparative Map Data
SLC7A6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381668,264,526 - 68,301,819 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1668,264,516 - 68,301,823 (+)EnsemblGRCh38hg38GRCh38
GRCh371668,298,429 - 68,335,722 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361666,855,924 - 66,893,223 (+)NCBINCBI36Build 36hg18NCBI36
Build 341666,855,933 - 66,893,222NCBI
Celera1652,806,916 - 52,844,230 (+)NCBICelera
Cytogenetic Map16q22.1NCBI
HuRef1654,171,419 - 54,208,888 (+)NCBIHuRef
CHM1_11669,706,452 - 69,743,751 (+)NCBICHM1_1
T2T-CHM13v2.01674,060,279 - 74,097,601 (+)NCBIT2T-CHM13v2.0
Slc7a6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398106,894,718 - 106,925,346 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8106,895,489 - 106,925,338 (+)EnsemblGRCm39 Ensembl
GRCm388106,168,219 - 106,198,714 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8106,168,857 - 106,198,706 (+)EnsemblGRCm38mm10GRCm38
MGSCv378108,692,775 - 108,722,604 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368109,058,004 - 109,087,833 (+)NCBIMGSCv36mm8
Celera8110,396,649 - 110,426,481 (+)NCBICelera
Cytogenetic Map8D3NCBI
Slc7a6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21934,073,472 - 34,100,268 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1934,074,286 - 34,100,268 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1940,899,201 - 40,915,837 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01941,552,514 - 41,569,150 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01943,851,657 - 43,868,294 (+)NCBIRnor_WKY
Rnor_6.01938,152,225 - 38,179,149 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1938,162,515 - 38,179,149 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01949,013,758 - 49,045,949 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41936,032,750 - 36,049,384 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11936,027,483 - 36,054,258 (+)NCBI
Celera1933,510,719 - 33,527,353 (+)NCBICelera
Cytogenetic Map19q12NCBI
Slc7a6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554848,349,622 - 8,383,475 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554848,335,508 - 8,383,814 (-)NCBIChiLan1.0ChiLan1.0
SLC7A6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan11683,722,908 - 83,759,847 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01648,641,256 - 48,675,347 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11668,037,206 - 68,072,502 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1668,038,696 - 68,072,502 (+)Ensemblpanpan1.1panPan2
SLC7A6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1581,229,251 - 81,267,325 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl581,231,680 - 81,252,295 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha581,219,398 - 81,257,388 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0581,664,241 - 81,702,242 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl581,664,376 - 81,699,724 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1581,490,980 - 81,528,956 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0581,173,484 - 81,211,387 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0581,814,920 - 81,852,921 (-)NCBIUU_Cfam_GSD_1.0
Slc7a6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934940,965,655 - 41,002,149 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647518,586,931 - 18,625,137 (+)EnsemblSpeTri2.0
SpeTri2.0NW_00493647518,587,058 - 18,624,757 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC7A6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1628,834,797 - 28,876,154 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SLC7A6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1559,118,131 - 59,164,659 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl559,119,827 - 59,143,982 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604721,852,528 - 21,892,942 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc7a6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474618,013,340 - 18,032,390 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474618,009,078 - 18,046,072 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC7A6
20 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3 copy number gain See cases [RCV000052405] Chr16:56883592..71279975 [GRCh38]
Chr16:56917504..71313878 [GRCh37]
Chr16:55475005..69871379 [NCBI36]
Chr16:16q13-22.2		 pathogenic
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3 copy number gain See cases [RCV000052408] Chr16:58456122..74708723 [GRCh38]
Chr16:58490026..74742621 [GRCh37]
Chr16:57047527..73300122 [NCBI36]
Chr16:16q21-23.1		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q21-22.1(chr16:63318997-70555249)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|See cases [RCV000053334] Chr16:63318997..70555249 [GRCh38]
Chr16:63352901..70589152 [GRCh37]
Chr16:61910402..69146653 [NCBI36]
Chr16:16q21-22.1		 pathogenic
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic|likely 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
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3 copy number gain See cases [RCV000143742] Chr16:65957829..83611443 [GRCh38]
Chr16:65991732..83645048 [GRCh37]
Chr16:64549233..82202549 [NCBI36]
Chr16:16q21-23.3		 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
Single allele complex Ductal breast carcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
GRCh37/hg19 16q22.1(chr16:67654566-68404073)x1 copy number loss See cases [RCV000449234] Chr16:67654566..68404073 [GRCh37]
Chr16:16q22.1		 likely pathogenic
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 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(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 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 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 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3		 pathogenic
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 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
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3		 not provided
NM_003983.6(SLC7A6):c.1250A>G (p.Lys417Arg) single nucleotide variant not provided [RCV000892549] Chr16:68296494 [GRCh38]
Chr16:68330397 [GRCh37]
Chr16:16q22.1		 likely benign
NM_003983.6(SLC7A6):c.1370T>C (p.Ile457Thr) single nucleotide variant not provided [RCV000957444] Chr16:68296727 [GRCh38]
Chr16:68330630 [GRCh37]
Chr16:16q22.1		 benign
NM_003983.6(SLC7A6):c.886T>A (p.Ser296Thr) single nucleotide variant not provided [RCV000957443] Chr16:68291300 [GRCh38]
Chr16:68325203 [GRCh37]
Chr16:16q22.1		 benign
GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1 copy number loss not provided [RCV001006797] Chr16:65669673..70180183 [GRCh37]
Chr16:16q21-22.1		 pathogenic
NC_000016.9:g.(?_66545871)_(72146396_?)dup duplication Dyskeratosis congenita, autosomal dominant 6 [RCV001900384]|Immunodeficiency [RCV001900385]|not provided [RCV001900386] Chr16:66545871..72146396 [GRCh37]
Chr16:16q21-22.2		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
NC_000016.9:g.(?_65821800)_(72146396_?)del deletion Dyskeratosis congenita, autosomal dominant 6 [RCV003122496] Chr16:65821800..72146396 [GRCh37]
Chr16:16q21-22.2		 uncertain significance
GRCh37/hg19 16q22.1(chr16:68326200-68970975)x3 copy number gain not provided [RCV002472657] Chr16:68326200..68970975 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_003983.6(SLC7A6):c.592G>A (p.Ala198Thr) single nucleotide variant Inborn genetic diseases [RCV002968349] Chr16:68287814 [GRCh38]
Chr16:68321717 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_003983.6(SLC7A6):c.1492G>A (p.Val498Ile) single nucleotide variant Inborn genetic diseases [RCV002752011] Chr16:68297272 [GRCh38]
Chr16:68331175 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_003983.6(SLC7A6):c.673G>A (p.Ala225Thr) single nucleotide variant Inborn genetic diseases [RCV002798960] Chr16:68290419 [GRCh38]
Chr16:68324322 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_003983.6(SLC7A6):c.959T>C (p.Ile320Thr) single nucleotide variant Inborn genetic diseases [RCV002845959] Chr16:68291598 [GRCh38]
Chr16:68325501 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_003983.6(SLC7A6):c.581C>T (p.Thr194Met) single nucleotide variant Inborn genetic diseases [RCV002803606] Chr16:68287803 [GRCh38]
Chr16:68321706 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_003983.6(SLC7A6):c.246T>G (p.Ile82Met) single nucleotide variant Inborn genetic diseases [RCV002696868] Chr16:68274972 [GRCh38]
Chr16:68308875 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_003983.6(SLC7A6):c.1058C>T (p.Pro353Leu) single nucleotide variant Inborn genetic diseases [RCV002674793] Chr16:68294740 [GRCh38]
Chr16:68328643 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_003983.6(SLC7A6):c.683G>A (p.Gly228Asp) single nucleotide variant Inborn genetic diseases [RCV002920215] Chr16:68290429 [GRCh38]
Chr16:68324332 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_003983.6(SLC7A6):c.1448T>C (p.Val483Ala) single nucleotide variant Inborn genetic diseases [RCV003207006] Chr16:68296805 [GRCh38]
Chr16:68330708 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_003983.6(SLC7A6):c.1302A>G (p.Ile434Met) single nucleotide variant Inborn genetic diseases [RCV003204754] Chr16:68296659 [GRCh38]
Chr16:68330562 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_003983.6(SLC7A6):c.1423C>T (p.Arg475Trp) single nucleotide variant Inborn genetic diseases [RCV003215190] Chr16:68296780 [GRCh38]
Chr16:68330683 [GRCh37]
Chr16:16q22.1		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR30Ahsa-miR-30a-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI16239240
MIR30Ahsa-miR-30a-3pTarbaseexternal_infoqPCRPOSITIVE

Predicted Target Of
Summary Value
Count of predictions:8454
Count of miRNA genes:1342
Interacting mature miRNAs:1772
Transcripts:ENST00000219343, ENST00000379152, ENST00000562727, ENST00000562863, ENST00000563080, ENST00000563146, ENST00000563208, ENST00000564708, ENST00000566454, ENST00000566579, ENST00000566834, ENST00000567325, ENST00000567346, ENST00000568024, ENST00000568088
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.

Markers in Region
RH64998  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371668,334,982 - 68,335,096UniSTSGRCh37
Build 361666,892,483 - 66,892,597RGDNCBI36
Celera1652,843,490 - 52,843,604RGD
Cytogenetic Map16q22.1UniSTS
HuRef1654,208,144 - 54,208,258UniSTS
D16S2540E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371668,335,251 - 68,335,378UniSTSGRCh37
Build 361666,892,752 - 66,892,879RGDNCBI36
Celera1652,843,759 - 52,843,886RGD
Cytogenetic Map16q22.1UniSTS
HuRef1654,208,413 - 54,208,540UniSTS
RH70445  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371668,335,091 - 68,335,246UniSTSGRCh37
Build 361666,892,592 - 66,892,747RGDNCBI36
Celera1652,843,599 - 52,843,754RGD
Cytogenetic Map16q22.1UniSTS
HuRef1654,208,253 - 54,208,408UniSTS
GeneMap99-GB4 RH Map16408.24UniSTS
NCBI RH Map16508.6UniSTS
SHGC-60827  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371668,335,484 - 68,335,687UniSTSGRCh37
Build 361666,892,985 - 66,893,188RGDNCBI36
Celera1652,843,992 - 52,844,195RGD
Cytogenetic Map16q22.1UniSTS
HuRef1654,208,646 - 54,208,849UniSTS
GeneMap99-GB4 RH Map16408.24UniSTS
Whitehead-RH Map16306.4UniSTS
NCBI RH Map16508.6UniSTS
SHGC-33727  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371668,334,976 - 68,335,125UniSTSGRCh37
Build 361666,892,477 - 66,892,626RGDNCBI36
Celera1652,843,484 - 52,843,633RGD
Cytogenetic Map16q22.1UniSTS
HuRef1654,208,138 - 54,208,287UniSTS
TNG Radiation Hybrid Map1629493.0UniSTS
Stanford-G3 RH Map162568.0UniSTS
GeneMap99-GB4 RH Map16406.22UniSTS
Whitehead-RH Map16306.4UniSTS
NCBI RH Map16508.6UniSTS
GeneMap99-G3 RH Map163012.0UniSTS
G20443  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371668,335,470 - 68,335,601UniSTSGRCh37
Build 361666,892,971 - 66,893,102RGDNCBI36
Celera1652,843,978 - 52,844,109RGD
Cytogenetic Map16q22.1UniSTS
HuRef1654,208,632 - 54,208,763UniSTS
A005R27  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371668,335,470 - 68,335,601UniSTSGRCh37
Build 361666,892,971 - 66,893,102RGDNCBI36
Celera1652,843,978 - 52,844,109RGD
Cytogenetic Map16q22.1UniSTS
HuRef1654,208,632 - 54,208,763UniSTS
GeneMap99-GB4 RH Map16411.94UniSTS
NCBI RH Map16527.1UniSTS
SLC7A6_3922  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371668,332,249 - 68,333,085UniSTSGRCh37
Build 361666,889,750 - 66,890,586RGDNCBI36
Celera1652,840,757 - 52,841,593RGD
HuRef1654,205,411 - 54,206,247UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1412 1468 1100 71 955 35 3272 1672 1357 66 747 1378 48 1151 2076 5
Low 1027 1507 537 464 980 341 1085 525 2343 351 713 235 127 1 53 712 1 2
Below cutoff 16 88 88 16 88 34 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001076785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_243433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC020978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP242589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB107640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R48943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000219343   ⟹   ENSP00000219343
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1668,264,526 - 68,301,819 (+)Ensembl
RefSeq Acc Id: ENST00000379152   ⟹   ENSP00000368448
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1668,264,548 - 68,301,819 (+)Ensembl
RefSeq Acc Id: ENST00000562727   ⟹   ENSP00000456896
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1668,265,516 - 68,274,798 (+)Ensembl
RefSeq Acc Id: ENST00000562863
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1668,291,286 - 68,294,747 (+)Ensembl
RefSeq Acc Id: ENST00000563080   ⟹   ENSP00000454824
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1668,266,591 - 68,291,658 (+)Ensembl
RefSeq Acc Id: ENST00000563146   ⟹   ENSP00000455487
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1668,266,602 - 68,275,001 (+)Ensembl
RefSeq Acc Id: ENST00000563208
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1668,290,962 - 68,294,801 (+)Ensembl
RefSeq Acc Id: ENST00000564708   ⟹   ENSP00000456629
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1668,264,582 - 68,274,948 (+)Ensembl
RefSeq Acc Id: ENST00000566454   ⟹   ENSP00000455064
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1668,264,560 - 68,301,819 (+)Ensembl
RefSeq Acc Id: ENST00000566579   ⟹   ENSP00000456474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1668,274,869 - 68,291,578 (+)Ensembl
RefSeq Acc Id: ENST00000566834   ⟹   ENSP00000457758
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1668,264,550 - 68,287,343 (+)Ensembl
RefSeq Acc Id: ENST00000567325
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1668,294,678 - 68,297,433 (+)Ensembl
RefSeq Acc Id: ENST00000567346   ⟹   ENSP00000463394
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1668,287,760 - 68,294,907 (+)Ensembl
RefSeq Acc Id: ENST00000568024   ⟹   ENSP00000457550
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1668,272,979 - 68,275,095 (+)Ensembl
RefSeq Acc Id: ENST00000568088   ⟹   ENSP00000455357
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1668,264,569 - 68,274,811 (+)Ensembl
RefSeq Acc Id: ENST00000618043   ⟹   ENSP00000484012
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1668,264,516 - 68,301,823 (+)Ensembl
RefSeq Acc Id: ENST00000648130   ⟹   ENSP00000496833
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1668,264,523 - 68,301,793 (+)Ensembl
RefSeq Acc Id: NM_001076785   ⟹   NP_001070253
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,264,526 - 68,301,819 (+)NCBI
GRCh371668,298,419 - 68,335,726 (+)NCBI
Build 361666,855,924 - 66,893,223 (+)NCBI Archive
Celera1652,806,916 - 52,844,230 (+)RGD
HuRef1654,171,419 - 54,208,888 (+)NCBI
CHM1_11669,706,452 - 69,743,751 (+)NCBI
T2T-CHM13v2.01674,060,279 - 74,097,601 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003983   ⟹   NP_003974
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,264,526 - 68,301,819 (+)NCBI
GRCh371668,298,419 - 68,335,726 (+)NCBI
Build 361666,855,924 - 66,893,223 (+)NCBI Archive
Celera1652,806,916 - 52,844,230 (+)RGD
HuRef1654,171,419 - 54,208,888 (+)NCBI
CHM1_11669,706,452 - 69,743,751 (+)NCBI
T2T-CHM13v2.01674,060,279 - 74,097,601 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003974   ⟸   NM_003983
- UniProtKB: Q7L1N3 (UniProtKB/Swiss-Prot),   Q92536 (UniProtKB/Swiss-Prot),   A0A024R719 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001070253   ⟸   NM_001076785
- UniProtKB: Q7L1N3 (UniProtKB/Swiss-Prot),   Q92536 (UniProtKB/Swiss-Prot),   A0A024R719 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000496833   ⟸   ENST00000648130
RefSeq Acc Id: ENSP00000219343   ⟸   ENST00000219343
RefSeq Acc Id: ENSP00000368448   ⟸   ENST00000379152
RefSeq Acc Id: ENSP00000456896   ⟸   ENST00000562727
RefSeq Acc Id: ENSP00000455487   ⟸   ENST00000563146
RefSeq Acc Id: ENSP00000454824   ⟸   ENST00000563080
RefSeq Acc Id: ENSP00000484012   ⟸   ENST00000618043
RefSeq Acc Id: ENSP00000456629   ⟸   ENST00000564708
RefSeq Acc Id: ENSP00000456474   ⟸   ENST00000566579
RefSeq Acc Id: ENSP00000455064   ⟸   ENST00000566454
RefSeq Acc Id: ENSP00000457758   ⟸   ENST00000566834
RefSeq Acc Id: ENSP00000463394   ⟸   ENST00000567346
RefSeq Acc Id: ENSP00000457550   ⟸   ENST00000568024
RefSeq Acc Id: ENSP00000455357   ⟸   ENST00000568088

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92536-F1-model_v2 AlphaFold Q92536 1-515 view protein structure

Promoters
RGD ID:6793457
Promoter ID:HG_KWN:24086
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000379152,   NM_001076785,   NM_003983,   UC002EVV.1,   UC010CFB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361666,855,546 - 66,856,257 (+)MPROMDB
RGD ID:6793455
Promoter ID:HG_KWN:24087
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC010CFC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361666,865,759 - 66,866,259 (+)MPROMDB
RGD ID:6811047
Promoter ID:HG_ACW:31227
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:SLC7A6.GAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361666,887,401 - 66,887,901 (+)MPROMDB
RGD ID:7232639
Promoter ID:EPDNEW_H22065
Type:initiation region
Name:SLC7A6_1
Description:solute carrier family 7 member 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22066  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,264,550 - 68,264,610EPDNEW
RGD ID:7232641
Promoter ID:EPDNEW_H22066
Type:single initiation site
Name:SLC7A6_2
Description:solute carrier family 7 member 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22065  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,267,940 - 68,268,000EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11064 AgrOrtholog
COSMIC SLC7A6 COSMIC
Ensembl Genes ENSG00000103064 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000219343 ENTREZGENE
  ENSP00000219343.6 UniProtKB/Swiss-Prot
  ENSP00000368448.3 UniProtKB/TrEMBL
  ENSP00000454824.1 UniProtKB/TrEMBL
  ENSP00000455064 ENTREZGENE
  ENSP00000455064.1 UniProtKB/Swiss-Prot
  ENSP00000455357.1 UniProtKB/TrEMBL
  ENSP00000455487.1 UniProtKB/TrEMBL
  ENSP00000456474.1 UniProtKB/TrEMBL
  ENSP00000456629.1 UniProtKB/TrEMBL
  ENSP00000456896.1 UniProtKB/TrEMBL
  ENSP00000457550.1 UniProtKB/TrEMBL
  ENSP00000457758.1 UniProtKB/TrEMBL
  ENSP00000463394.1 UniProtKB/TrEMBL
  ENSP00000484012.1 UniProtKB/TrEMBL
  ENSP00000496833.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000219343 ENTREZGENE
  ENST00000219343.11 UniProtKB/Swiss-Prot
  ENST00000379152.7 UniProtKB/TrEMBL
  ENST00000562727.1 UniProtKB/TrEMBL
  ENST00000563080.1 UniProtKB/TrEMBL
  ENST00000563146.1 UniProtKB/TrEMBL
  ENST00000564708.1 UniProtKB/TrEMBL
  ENST00000566454 ENTREZGENE
  ENST00000566454.5 UniProtKB/Swiss-Prot
  ENST00000566579.5 UniProtKB/TrEMBL
  ENST00000566834.5 UniProtKB/TrEMBL
  ENST00000567346.5 UniProtKB/TrEMBL
  ENST00000568024.1 UniProtKB/TrEMBL
  ENST00000568088.5 UniProtKB/TrEMBL
  ENST00000618043.4 UniProtKB/TrEMBL
  ENST00000648130.1 UniProtKB/TrEMBL
Gene3D-CATH Amino acid/polyamine transporter I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000103064 GTEx
HGNC ID HGNC:11064 ENTREZGENE
Human Proteome Map SLC7A6 Human Proteome Map
InterPro AA/rel_permease1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9057 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9057 ENTREZGENE
OMIM 605641 OMIM
PANTHER AMINO ACID TRANSPORTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Y+L AMINO ACID TRANSPORTER 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AA_permease_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35924 PharmGKB
PIRSF AA_transporter UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R719 ENTREZGENE, UniProtKB/TrEMBL
  A0AUM0_HUMAN UniProtKB/TrEMBL
  E7EPZ8_HUMAN UniProtKB/TrEMBL
  H3BNF5_HUMAN UniProtKB/TrEMBL
  H3BPK5_HUMAN UniProtKB/TrEMBL
  H3BPV6_HUMAN UniProtKB/TrEMBL
  H3BRZ8_HUMAN UniProtKB/TrEMBL
  H3BSB6_HUMAN UniProtKB/TrEMBL
  H3BSV7_HUMAN UniProtKB/TrEMBL
  H3BUA4_HUMAN UniProtKB/TrEMBL
  H3BUR2_HUMAN UniProtKB/TrEMBL
  J3QL60_HUMAN UniProtKB/TrEMBL
  Q7L1N3 ENTREZGENE
  Q92536 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q68DS4 UniProtKB/Swiss-Prot
  Q7L1N3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC7A6  solute carrier family 7 member 6    solute carrier family 7 (amino acid transporter light chain, y+L system), member 6  Symbol and/or name change 5135510 APPROVED
2011-07-27 SLC7A6  solute carrier family 7 (amino acid transporter light chain, y+L system), member 6  SLC7A6  solute carrier family 7 (cationic amino acid transporter, y+ system), member 6  Symbol and/or name change 5135510 APPROVED