SLC7A2 (solute carrier family 7 member 2) - Rat Genome Database

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Gene: SLC7A2 (solute carrier family 7 member 2) Homo sapiens
Analyze
Symbol: SLC7A2
Name: solute carrier family 7 member 2
RGD ID: 68562
HGNC Page HGNC:11060
Description: Enables L-arginine transmembrane transporter activity. Involved in L-arginine import across plasma membrane and L-arginine transmembrane transport. Located in cell junction and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: solute carrier family 7, member 3; amino acid transporter, cationic 2; ATRC2; CAT-2; CAT-2A; CAT-2B; CAT2; cationic amino acid transporter 2; cationic amino acid transporter, y+ system; HCAT2; low affinity cationic amino acid transporter 2; low-affinity cationic amino acid transporter-2; SLC7A2A; SLC7A2B; solute carrier family 7 (cationic amino acid transporter, y+ system), member 2
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
GRCh38817,494,069 - 17,570,566 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl817,497,088 - 17,570,573 (+)EnsemblGRCh38hg38GRCh38
GRCh37817,354,597 - 17,428,075 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36817,440,665 - 17,472,352 (+)NCBINCBI36Build 36hg18NCBI36
Build 34817,440,684 - 17,472,296NCBI
Celera816,320,372 - 16,393,730 (+)NCBICelera
Cytogenetic Map8p22NCBI
HuRef815,899,173 - 15,972,649 (+)NCBIHuRef
CHM1_1817,556,088 - 17,629,545 (+)NCBICHM1_1
T2T-CHM13v2.0817,761,599 - 17,837,697 (+)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
(1->4)-beta-D-glucan  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3-Iodothyronamine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (ISO)
acetamide  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP,ISO)
aldrin  (ISO)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
aristolochic acid A  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
choline  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
clofibric acid  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (ISO)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP,ISO)
cytarabine  (EXP)
diallyl trisulfide  (EXP)
dieldrin  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
furan  (ISO)
gamma-hexachlorocyclohexane  (ISO)
genistein  (ISO)
gentamycin  (ISO)
heptachlor  (ISO)
inulin  (ISO)
L-methionine  (ISO)
leflunomide  (EXP)
lipopolysaccharide  (EXP,ISO)
medroxyprogesterone acetate  (EXP)
mercury atom  (EXP)
mercury dibromide  (EXP)
mercury(0)  (EXP)
methapyrilene  (ISO)
methylmercury chloride  (EXP)
mirex  (ISO)
N-nitrosodiethylamine  (ISO)
nickel dichloride  (EXP)
ozone  (EXP)
paracetamol  (EXP,ISO)
parathion  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
picene  (EXP)
pirinixic acid  (ISO)
progesterone  (EXP)
propiconazole  (ISO)
resveratrol  (ISO)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
serpentine asbestos  (EXP)
sevoflurane  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (ISO)
sunitinib  (EXP)
T-2 toxin  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
Triptolide  (ISO)
troglitazone  (ISO)
trovafloxacin  (ISO)
valproic acid  (EXP,ISO)
zearalenone  (EXP)
zidovudine  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cell junction  (IDA)
membrane  (IEA)
plasma membrane  (IBA,IDA,IEA,TAS)

Molecular Pathway Annotations     Click to see Annotation Detail View
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. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8954799   PMID:9040790   PMID:9174363   PMID:10756096   PMID:11665818   PMID:12477932   PMID:12787129   PMID:15064952   PMID:15489334   PMID:16344560   PMID:18029348   PMID:18172665  
PMID:18195088   PMID:20424473   PMID:20430034   PMID:20600019   PMID:21873635   PMID:22787143   PMID:22870827   PMID:23284306   PMID:24019517   PMID:24823311   PMID:26186194   PMID:26638075  
PMID:28501704   PMID:28514442   PMID:28684763   PMID:29568061   PMID:30194290   PMID:30280653   PMID:30639242   PMID:31871319   PMID:32008093   PMID:32614325   PMID:32647070   PMID:33961781  
PMID:34079125   PMID:34108444   PMID:34432599   PMID:34591612   PMID:35384245   PMID:36639771   PMID:37774976   PMID:38203268   PMID:38419038  


Genomics

Comparative Map Data
SLC7A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38817,494,069 - 17,570,566 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl817,497,088 - 17,570,573 (+)EnsemblGRCh38hg38GRCh38
GRCh37817,354,597 - 17,428,075 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36817,440,665 - 17,472,352 (+)NCBINCBI36Build 36hg18NCBI36
Build 34817,440,684 - 17,472,296NCBI
Celera816,320,372 - 16,393,730 (+)NCBICelera
Cytogenetic Map8p22NCBI
HuRef815,899,173 - 15,972,649 (+)NCBIHuRef
CHM1_1817,556,088 - 17,629,545 (+)NCBICHM1_1
T2T-CHM13v2.0817,761,599 - 17,837,697 (+)NCBIT2T-CHM13v2.0
Slc7a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39841,315,404 - 41,375,107 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl841,315,433 - 41,375,345 (+)EnsemblGRCm39 Ensembl
GRCm38840,862,341 - 40,922,070 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl840,862,396 - 40,922,308 (+)EnsemblGRCm38mm10GRCm38
MGSCv37841,947,721 - 42,007,424 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36842,361,229 - 42,421,125 (+)NCBIMGSCv36mm8
Celera843,496,255 - 43,555,499 (+)NCBICelera
Cytogenetic Map8A4NCBI
cM Map823.89NCBI
Slc7a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81658,115,991 - 58,174,256 (-)NCBIGRCr8
mRatBN7.21651,417,478 - 51,470,784 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1651,417,493 - 51,470,784 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1656,736,689 - 56,789,896 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01660,136,544 - 60,189,834 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01655,370,642 - 55,423,851 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01654,459,409 - 54,513,349 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1654,460,067 - 54,513,349 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01654,171,102 - 54,224,384 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41654,752,119 - 54,805,406 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1649,310,502 - 49,363,790 (-)NCBICelera
Cytogenetic Map16q12.1NCBI
Slc7a2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555522,117,755 - 2,141,231 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555522,117,972 - 2,141,144 (-)NCBIChiLan1.0ChiLan1.0
SLC7A2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2735,969,973 - 36,043,781 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1811,704,679 - 11,770,243 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0816,723,227 - 16,788,745 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1813,671,571 - 13,741,007 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl813,671,571 - 13,735,645 (+)Ensemblpanpan1.1panPan2
SLC7A2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11640,855,270 - 40,879,956 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1640,745,458 - 40,875,106 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1641,312,676 - 41,387,063 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01642,867,670 - 42,935,808 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1642,867,675 - 42,935,804 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11640,961,049 - 41,029,086 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01641,504,575 - 41,572,831 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01641,699,102 - 41,767,417 (+)NCBIUU_Cfam_GSD_1.0
Slc7a2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494338,425,216 - 38,494,926 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936614157,828 - 184,583 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936614111,625 - 184,571 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC7A2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl175,192,022 - 5,271,849 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1175,191,973 - 5,271,849 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2175,704,846 - 5,725,732 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC7A2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1815,591,795 - 15,665,837 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl815,638,113 - 15,660,487 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605226,611,997 - 26,686,779 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc7a2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476921,681,709 - 21,757,213 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476921,678,084 - 21,757,168 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC7A2
54 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001370338.1(SLC7A2):c.1267T>C (p.Ser423Pro) single nucleotide variant not provided [RCV000727673] Chr8:17558366 [GRCh38]
Chr8:17415875 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.1-21.3(chr8:12787272-20952389)x3 copy number gain See cases [RCV000053634] Chr8:12787272..20952389 [GRCh38]
Chr8:12644781..20809900 [GRCh37]
Chr8:12689152..20854180 [NCBI36]
Chr8:8p23.1-21.3		 pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3 copy number gain See cases [RCV000053603] Chr8:241530..17678697 [GRCh38]
Chr8:191530..17536206 [GRCh37]
Chr8:181530..17580486 [NCBI36]
Chr8:8p23.3-22		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12		 pathogenic
NM_001008539.3(SLC7A2):c.355C>T (p.Leu119Phe) single nucleotide variant Malignant melanoma [RCV000068225] Chr8:17543694 [GRCh38]
Chr8:17401203 [GRCh37]
Chr8:17445582 [NCBI36]
Chr8:8p22		 not provided
NM_001008539.3(SLC7A2):c.1626C>T (p.Leu542=) single nucleotide variant Malignant melanoma [RCV000068226] Chr8:17562065 [GRCh38]
Chr8:17419574 [GRCh37]
Chr8:17463866 [NCBI36]
Chr8:8p22		 not provided
NM_001008539.3(SLC7A2):c.1947C>T (p.Phe649=) single nucleotide variant Malignant melanoma [RCV000068227] Chr8:17565116 [GRCh38]
Chr8:17422625 [GRCh37]
Chr8:17466899 [NCBI36]
Chr8:8p22		 not provided
NM_001008539.3(SLC7A2):c.1060C>T (p.Leu354Phe) single nucleotide variant Malignant melanoma [RCV000061771] Chr8:17554564 [GRCh38]
Chr8:17412073 [GRCh37]
Chr8:17456365 [NCBI36]
Chr8:8p22		 not provided
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh38/hg38 8p23.1-21.3(chr8:12732530-20436882)x3 copy number gain See cases [RCV000135294] Chr8:12732530..20436882 [GRCh38]
Chr8:12590039..20294393 [GRCh37]
Chr8:12634410..20338673 [NCBI36]
Chr8:8p23.1-21.3		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2		 pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 copy number gain See cases [RCV000135967] Chr8:241530..23198398 [GRCh38]
Chr8:191530..23055911 [GRCh37]
Chr8:181530..23111856 [NCBI36]
Chr8:8p23.3-21.3		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p22(chr8:17389229-17925178)x3 copy number gain See cases [RCV000138299] Chr8:17389229..17925178 [GRCh38]
Chr8:17246738..17782687 [GRCh37]
Chr8:17291109..17826967 [NCBI36]
Chr8:8p22		 likely benign
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1		 pathogenic
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22		 pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 copy number gain See cases [RCV000239945] Chr8:12580132..26774307 [GRCh37]
Chr8:8p23.1-21.2		 pathogenic
GRCh37/hg19 8p22(chr8:17294405-17919470)x3 copy number gain See cases [RCV000598817] Chr8:17294405..17919470 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12		 pathogenic
GRCh37/hg19 8p22-21.3(chr8:15935542-19321304)x3 copy number gain See cases [RCV000446821] Chr8:15935542..19321304 [GRCh37]
Chr8:8p22-21.3		 uncertain significance
GRCh37/hg19 8p22(chr8:16657256-17861898)x3 copy number gain See cases [RCV000447330] Chr8:16657256..17861898 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh37/hg19 8p22-21.2(chr8:13091530-24483615) copy number loss See cases [RCV000447428] Chr8:13091530..24483615 [GRCh37]
Chr8:8p22-21.2		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4 copy number gain See cases [RCV000448695] Chr8:158991..17536147 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p23.1-22(chr8:11935023-18814062)x3 copy number gain See cases [RCV000510447] Chr8:11935023..18814062 [GRCh37]
Chr8:8p23.1-22		 likely pathogenic
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12		 not provided
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001370338.1(SLC7A2):c.275G>A (p.Arg92His) single nucleotide variant Inborn genetic diseases [RCV003300227] Chr8:17543614 [GRCh38]
Chr8:17401123 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) copy number gain Autism [RCV000626542] Chr8:12580104..25947329 [GRCh37]
Chr8:8p23.1-21.2		 pathogenic
NM_001370338.1(SLC7A2):c.660T>G (p.Ile220Met) single nucleotide variant Inborn genetic diseases [RCV003240206] Chr8:17548805 [GRCh38]
Chr8:17406314 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1111G>A (p.Gly371Arg) single nucleotide variant Inborn genetic diseases [RCV003247805] Chr8:17554615 [GRCh38]
Chr8:17412124 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.-6G>A single nucleotide variant Inborn genetic diseases [RCV003245518] Chr8:17543334 [GRCh38]
Chr8:17400843 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 copy number gain not provided [RCV000683041] Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2		 pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 copy number gain not provided [RCV000683042] Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p22(chr8:17174343-17523646)x3 copy number gain not provided [RCV000747443] Chr8:17174343..17523646 [GRCh37]
Chr8:8p22		 benign
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
NM_001370338.1(SLC7A2):c.1522C>T (p.Leu508=) single nucleotide variant not provided [RCV000950733] Chr8:17561961 [GRCh38]
Chr8:17419470 [GRCh37]
Chr8:8p22		 benign
NM_001370338.1(SLC7A2):c.1218C>T (p.Asp406=) single nucleotide variant not provided [RCV000967080] Chr8:17558317 [GRCh38]
Chr8:17415826 [GRCh37]
Chr8:8p22		 benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001370338.1(SLC7A2):c.1713G>C (p.Val571=) single nucleotide variant not provided [RCV000959006] Chr8:17563644 [GRCh38]
Chr8:17421153 [GRCh37]
Chr8:8p22		 benign
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p22-21.3(chr8:15935542-19321304) copy number gain not specified [RCV002053754] Chr8:15935542..19321304 [GRCh37]
Chr8:8p22-21.3		 uncertain significance
NC_000008.10:g.(?_16850399)_(20112692_?)dup duplication Hereditary spastic paraplegia 53 [RCV003120735] Chr8:16850399..20112692 [GRCh37]
Chr8:8p22-21.3		 uncertain significance
NC_000008.10:g.(?_16850399)_(17885171_?)dup duplication not provided [RCV003119958] Chr8:16850399..17885171 [GRCh37]
Chr8:8p22		 uncertain significance
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 copy number loss See cases [RCV002286343] Chr8:158048..30187456 [GRCh37]
Chr8:8p23.3-12		 pathogenic
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
NM_001370338.1(SLC7A2):c.-11C>T single nucleotide variant Inborn genetic diseases [RCV003256933] Chr8:17543329 [GRCh38]
Chr8:17400838 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.943C>A (p.Pro315Thr) single nucleotide variant Inborn genetic diseases [RCV003262626] Chr8:17551874 [GRCh38]
Chr8:17409383 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1 copy number loss not provided [RCV002472557] Chr8:158049..18936715 [GRCh37]
Chr8:8p23.3-22		 pathogenic
NM_001370338.1(SLC7A2):c.1195+360C>T single nucleotide variant Myoepithelial tumor [RCV002463906] Chr8:17555059 [GRCh38]
Chr8:17412568 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.468G>A (p.Met156Ile) single nucleotide variant Inborn genetic diseases [RCV002905542] Chr8:17544542 [GRCh38]
Chr8:17402051 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1430G>A (p.Arg477Gln) single nucleotide variant Inborn genetic diseases [RCV002883024] Chr8:17560459 [GRCh38]
Chr8:17417968 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1088T>C (p.Val363Ala) single nucleotide variant Inborn genetic diseases [RCV002992032] Chr8:17554592 [GRCh38]
Chr8:17412101 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1535C>G (p.Thr512Ser) single nucleotide variant Inborn genetic diseases [RCV002784482] Chr8:17561974 [GRCh38]
Chr8:17419483 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1103C>T (p.Ala368Val) single nucleotide variant Inborn genetic diseases [RCV002758454] Chr8:17554607 [GRCh38]
Chr8:17412116 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1811G>C (p.Arg604Thr) single nucleotide variant Inborn genetic diseases [RCV002845865] Chr8:17564980 [GRCh38]
Chr8:17422489 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.952C>G (p.Leu318Val) single nucleotide variant Inborn genetic diseases [RCV002784137] Chr8:17551883 [GRCh38]
Chr8:17409392 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.731A>T (p.Tyr244Phe) single nucleotide variant Inborn genetic diseases [RCV002704918] Chr8:17550333 [GRCh38]
Chr8:17407842 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.764C>T (p.Thr255Met) single nucleotide variant Inborn genetic diseases [RCV002978871] Chr8:17550366 [GRCh38]
Chr8:17407875 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1429C>T (p.Arg477Trp) single nucleotide variant Inborn genetic diseases [RCV002978522] Chr8:17560458 [GRCh38]
Chr8:17417967 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1339C>A (p.Pro447Thr) single nucleotide variant Inborn genetic diseases [RCV002884250] Chr8:17560368 [GRCh38]
Chr8:17417877 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.612T>G (p.Phe204Leu) single nucleotide variant Inborn genetic diseases [RCV002845135] Chr8:17548757 [GRCh38]
Chr8:17406266 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1355T>A (p.Leu452Gln) single nucleotide variant Inborn genetic diseases [RCV002915378] Chr8:17560384 [GRCh38]
Chr8:17417893 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1124A>T (p.Lys375Ile) single nucleotide variant Inborn genetic diseases [RCV002874068] Chr8:17554628 [GRCh38]
Chr8:17412137 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.-22-4454A>G single nucleotide variant Inborn genetic diseases [RCV002696684] Chr8:17538864 [GRCh38]
Chr8:17396373 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.-22-4477G>A single nucleotide variant Inborn genetic diseases [RCV002766973] Chr8:17538841 [GRCh38]
Chr8:17396350 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1334G>A (p.Cys445Tyr) single nucleotide variant Inborn genetic diseases [RCV002742807] Chr8:17560363 [GRCh38]
Chr8:17417872 [GRCh37]
Chr8:8p22		 likely benign
NM_001370338.1(SLC7A2):c.971C>T (p.Pro324Leu) single nucleotide variant Inborn genetic diseases [RCV002892575] Chr8:17551902 [GRCh38]
Chr8:17409411 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.368A>G (p.Tyr123Cys) single nucleotide variant Inborn genetic diseases [RCV002673103] Chr8:17543707 [GRCh38]
Chr8:17401216 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.-22-4407C>A single nucleotide variant Inborn genetic diseases [RCV002960963] Chr8:17538911 [GRCh38]
Chr8:17396420 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.455C>T (p.Thr152Ile) single nucleotide variant Inborn genetic diseases [RCV002854874] Chr8:17544529 [GRCh38]
Chr8:17402038 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1723T>A (p.Leu575Met) single nucleotide variant Inborn genetic diseases [RCV002670253] Chr8:17563654 [GRCh38]
Chr8:17421163 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1847A>G (p.Asn616Ser) single nucleotide variant Inborn genetic diseases [RCV002935565] Chr8:17565016 [GRCh38]
Chr8:17422525 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.800C>T (p.Ala267Val) single nucleotide variant Inborn genetic diseases [RCV002900693] Chr8:17550402 [GRCh38]
Chr8:17407911 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1297A>G (p.Arg433Gly) single nucleotide variant Inborn genetic diseases [RCV002678868] Chr8:17558396 [GRCh38]
Chr8:17415905 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1872C>A (p.Asn624Lys) single nucleotide variant Inborn genetic diseases [RCV003195874] Chr8:17565041 [GRCh38]
Chr8:17422550 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1435C>T (p.Leu479Phe) single nucleotide variant Inborn genetic diseases [RCV003178098] Chr8:17560464 [GRCh38]
Chr8:17417973 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.424C>G (p.Leu142Val) single nucleotide variant Inborn genetic diseases [RCV003211725] Chr8:17544498 [GRCh38]
Chr8:17402007 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.508G>T (p.Val170Leu) single nucleotide variant Inborn genetic diseases [RCV003262917] Chr8:17544582 [GRCh38]
Chr8:17402091 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1 copy number loss Microcephaly [RCV003327707] Chr8:12721809..30183737 [GRCh38]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1 copy number loss Neurodevelopmental disorder [RCV003327729] Chr8:449893..23854904 [GRCh38]
Chr8:8p23.3-21.2		 pathogenic
NM_001370338.1(SLC7A2):c.1882G>C (p.Ala628Pro) single nucleotide variant Inborn genetic diseases [RCV003357417] Chr8:17565051 [GRCh38]
Chr8:17422560 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.394A>G (p.Arg132Gly) single nucleotide variant Inborn genetic diseases [RCV003371165] Chr8:17544468 [GRCh38]
Chr8:17401977 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 copy number gain not provided [RCV003484713] Chr8:2201405..41723095 [GRCh37]
Chr8:8p23.2-11.21		 pathogenic
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3 copy number gain not provided [RCV003484722] Chr8:11945856..37902453 [GRCh37]
Chr8:8p23.1-11.23		 pathogenic
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3 copy number gain not provided [RCV003484725] Chr8:14240573..43824035 [GRCh37]
Chr8:8p22-11.1		 pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3 copy number gain not provided [RCV003484724] Chr8:12560782..38748763 [GRCh37]
Chr8:8p23.1-11.22		 pathogenic
GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1 copy number loss not provided [RCV003483018] Chr8:12490999..28150620 [GRCh37]
Chr8:8p23.1-21.1		 pathogenic
Single allele duplication not provided [RCV003448693] Chr8:12530550..43483193 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3 copy number gain not specified [RCV003986756] Chr8:158048..41600696 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
NM_001370338.1(SLC7A2):c.1924C>T (p.Pro642Ser) single nucleotide variant SLC7A2-related condition [RCV003939460] Chr8:17565093 [GRCh38]
Chr8:17422602 [GRCh37]
Chr8:8p22		 likely benign
NM_001370338.1(SLC7A2):c.-22-4388_-22-4387insC insertion SLC7A2-related condition [RCV003974476] Chr8:17538930..17538931 [GRCh38]
Chr8:17396439..17396440 [GRCh37]
Chr8:8p22		 benign
NM_001370338.1(SLC7A2):c.313G>C (p.Val105Leu) single nucleotide variant SLC7A2-related condition [RCV003924407] Chr8:17543652 [GRCh38]
Chr8:17401161 [GRCh37]
Chr8:8p22		 benign
NM_001370338.1(SLC7A2):c.533-4A>G single nucleotide variant SLC7A2-related condition [RCV003982214] Chr8:17548674 [GRCh38]
Chr8:17406183 [GRCh37]
Chr8:8p22		 benign
NM_001370338.1(SLC7A2):c.1581C>T (p.Leu527=) single nucleotide variant SLC7A2-related condition [RCV003921904] Chr8:17562020 [GRCh38]
Chr8:17419529 [GRCh37]
Chr8:8p22		 benign
NM_001370338.1(SLC7A2):c.1591G>A (p.Ala531Thr) single nucleotide variant SLC7A2-related condition [RCV003979357] Chr8:17562030 [GRCh38]
Chr8:17419539 [GRCh37]
Chr8:8p22		 benign
NM_001370338.1(SLC7A2):c.-19G>A single nucleotide variant SLC7A2-related condition [RCV003931736] Chr8:17543321 [GRCh38]
Chr8:17400830 [GRCh37]
Chr8:8p22		 benign
NM_001370338.1(SLC7A2):c.-22-4386A>C single nucleotide variant SLC7A2-related condition [RCV003979486] Chr8:17538932 [GRCh38]
Chr8:17396441 [GRCh37]
Chr8:8p22		 benign
NM_001370338.1(SLC7A2):c.-22-4412G>C single nucleotide variant SLC7A2-related condition [RCV003974546] Chr8:17538906 [GRCh38]
Chr8:17396415 [GRCh37]
Chr8:8p22		 benign
NM_001370338.1(SLC7A2):c.-22-4447G>A single nucleotide variant SLC7A2-related condition [RCV003974662] Chr8:17538871 [GRCh38]
Chr8:17396380 [GRCh37]
Chr8:8p22		 benign
NM_001370338.1(SLC7A2):c.1127G>C (p.Cys376Ser) single nucleotide variant SLC7A2-related condition [RCV003982395] Chr8:17554631 [GRCh38]
Chr8:17412140 [GRCh37]
Chr8:8p22		 benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7299
Count of miRNA genes:971
Interacting mature miRNAs:1153
Transcripts:ENST00000004531, ENST00000398090, ENST00000470360, ENST00000494857, ENST00000522656
Prediction methods:Microtar, Miranda, Rnahybrid
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
G31147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,400,925 - 17,401,017UniSTSGRCh37
Build 36817,445,304 - 17,445,396RGDNCBI36
Celera816,366,682 - 16,366,774RGD
Cytogenetic Map8p22UniSTS
HuRef815,945,571 - 15,945,663UniSTS
SHGC-36559  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,427,863 - 17,427,962UniSTSGRCh37
Build 36817,472,138 - 17,472,237RGDNCBI36
Celera816,393,516 - 16,393,615RGD
Cytogenetic Map8p22UniSTS
HuRef815,972,435 - 15,972,534UniSTS
Stanford-G3 RH Map8797.0UniSTS
NCBI RH Map8199.6UniSTS
GeneMap99-G3 RH Map8884.0UniSTS
RH79723  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,407,834 - 17,408,037UniSTSGRCh37
Build 36817,452,212 - 17,452,415RGDNCBI36
Celera816,373,590 - 16,373,793RGD
Cytogenetic Map8p22UniSTS
HuRef815,952,492 - 15,952,695UniSTS
GeneMap99-GB4 RH Map863.84UniSTS
RH80694  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,427,824 - 17,428,026UniSTSGRCh37
Build 36817,472,099 - 17,472,301RGDNCBI36
Celera816,393,477 - 16,393,679RGD
Cytogenetic Map8p22UniSTS
HuRef815,972,396 - 15,972,598UniSTS
GeneMap99-GB4 RH Map863.62UniSTS
RH103268  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,427,754 - 17,427,884UniSTSGRCh37
Build 36817,472,029 - 17,472,159RGDNCBI36
Celera816,393,407 - 16,393,537RGD
Cytogenetic Map8p22UniSTS
HuRef815,972,326 - 15,972,456UniSTS
GeneMap99-GB4 RH Map858.9UniSTS
RH124017  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,378,764 - 17,379,034UniSTSGRCh37
Build 36817,423,143 - 17,423,413RGDNCBI36
Celera816,344,517 - 16,344,787RGD
Cytogenetic Map8p22UniSTS
HuRef815,923,314 - 15,923,584UniSTS
fb93h06.x1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375146,881,940 - 146,882,063UniSTSGRCh37
GRCh375146,881,946 - 146,882,063UniSTSGRCh37
Build 365146,862,133 - 146,862,256RGDNCBI36
Celera5142,963,957 - 142,964,074UniSTS
Celera5142,963,951 - 142,964,074RGD
HuRef815,949,482 - 15,949,987UniSTS
HuRef815,949,482 - 15,949,953UniSTS
HuRef815,949,482 - 15,949,969UniSTS
HuRef1168,728,039 - 68,728,516UniSTS
HuRef1168,728,039 - 68,728,548UniSTS
PMC310830P24  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,396,286 - 17,396,406UniSTSGRCh37
Build 36817,440,665 - 17,440,785RGDNCBI36
Celera816,362,043 - 16,362,163RGD
Cytogenetic Map8p22UniSTS
HuRef815,940,935 - 15,941,055UniSTS
RH41931  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,427,677 - 17,427,954UniSTSGRCh37
Build 36817,471,952 - 17,472,229RGDNCBI36
Celera816,393,330 - 16,393,607RGD
Cytogenetic Map8p22UniSTS
HuRef815,972,249 - 15,972,526UniSTS
GeneMap99-GB4 RH Map865.2UniSTS
STS-AA007415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,426,220 - 17,426,466UniSTSGRCh37
Build 36817,470,495 - 17,470,741RGDNCBI36
Celera816,391,873 - 16,392,119RGD
Cytogenetic Map8p22UniSTS
HuRef815,970,792 - 15,971,038UniSTS
GeneMap99-GB4 RH Map863.55UniSTS


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 1018 1517 1307 471 123 432 3682 1478 913 166 1218 1235 45 1 1196 2529 6
Low 1343 732 413 151 522 31 665 695 2763 235 215 342 128 8 259 2
Below cutoff 43 712 3 2 994 2 2 17 48 16 23 26 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_030355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001008539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA724796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB020863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI275549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI458117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP006248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU077312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB216457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D29990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D78212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB237902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U76368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U76369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000004531   ⟹   ENSP00000004531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl817,538,777 - 17,570,561 (+)Ensembl
RefSeq Acc Id: ENST00000398090   ⟹   ENSP00000381164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl817,538,777 - 17,570,561 (+)Ensembl
RefSeq Acc Id: ENST00000470360   ⟹   ENSP00000419873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl817,497,215 - 17,570,573 (+)Ensembl
RefSeq Acc Id: ENST00000494857   ⟹   ENSP00000419140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl817,497,088 - 17,570,566 (+)Ensembl
RefSeq Acc Id: ENST00000522656   ⟹   ENSP00000430464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl817,497,091 - 17,565,274 (+)Ensembl
RefSeq Acc Id: ENST00000640220   ⟹   ENSP00000492016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl817,538,870 - 17,565,162 (+)Ensembl
RefSeq Acc Id: NM_001008539   ⟹   NP_001008539
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,497,088 - 17,570,566 (+)NCBI
GRCh37817,354,597 - 17,428,077 (+)ENTREZGENE
Build 36817,445,206 - 17,472,352 (+)NCBI Archive
HuRef815,899,173 - 15,972,649 (+)ENTREZGENE
CHM1_1817,556,088 - 17,629,545 (+)NCBI
T2T-CHM13v2.0817,764,342 - 17,837,697 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001164771   ⟹   NP_001158243
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,538,777 - 17,570,566 (+)NCBI
GRCh37817,354,597 - 17,428,077 (+)ENTREZGENE
HuRef815,899,173 - 15,972,649 (+)ENTREZGENE
CHM1_1817,597,767 - 17,629,545 (+)NCBI
T2T-CHM13v2.0817,806,013 - 17,837,697 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001370337   ⟹   NP_001357266
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,497,088 - 17,570,566 (+)NCBI
T2T-CHM13v2.0817,764,342 - 17,837,697 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001370338   ⟹   NP_001357267
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,497,088 - 17,570,566 (+)NCBI
T2T-CHM13v2.0817,764,342 - 17,837,697 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003046   ⟹   NP_003037
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,538,777 - 17,570,566 (+)NCBI
GRCh37817,354,597 - 17,428,077 (+)ENTREZGENE
Build 36817,440,665 - 17,472,352 (+)NCBI Archive
HuRef815,899,173 - 15,972,649 (+)ENTREZGENE
CHM1_1817,597,767 - 17,629,545 (+)NCBI
T2T-CHM13v2.0817,806,013 - 17,837,697 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005273611   ⟹   XP_005273668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,501,314 - 17,570,566 (+)NCBI
GRCh37817,354,597 - 17,428,077 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005273612   ⟹   XP_005273669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,497,088 - 17,570,566 (+)NCBI
GRCh37817,354,597 - 17,428,077 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013746   ⟹   XP_016869235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,494,318 - 17,570,566 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047422113   ⟹   XP_047278069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,494,069 - 17,570,566 (+)NCBI
RefSeq Acc Id: XM_047422114   ⟹   XP_047278070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,494,069 - 17,570,566 (+)NCBI
RefSeq Acc Id: XM_047422115   ⟹   XP_047278071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,497,088 - 17,570,566 (+)NCBI
RefSeq Acc Id: XM_047422116   ⟹   XP_047278072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,497,088 - 17,570,566 (+)NCBI
RefSeq Acc Id: XM_054361028   ⟹   XP_054217003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0817,764,342 - 17,837,697 (+)NCBI
RefSeq Acc Id: XM_054361029   ⟹   XP_054217004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0817,768,551 - 17,837,697 (+)NCBI
RefSeq Acc Id: XM_054361030   ⟹   XP_054217005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0817,761,599 - 17,837,697 (+)NCBI
RefSeq Acc Id: XM_054361031   ⟹   XP_054217006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0817,764,342 - 17,837,697 (+)NCBI
RefSeq Acc Id: XM_054361032   ⟹   XP_054217007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0817,764,342 - 17,837,697 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001008539 (Get FASTA)   NCBI Sequence Viewer  
  NP_001158243 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357266 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357267 (Get FASTA)   NCBI Sequence Viewer  
  NP_003037 (Get FASTA)   NCBI Sequence Viewer  
  XP_005273668 (Get FASTA)   NCBI Sequence Viewer  
  XP_005273669 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869235 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278069 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278070 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278071 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278072 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217003 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217004 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217005 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217006 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217007 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB62810 (Get FASTA)   NCBI Sequence Viewer  
  AAB62811 (Get FASTA)   NCBI Sequence Viewer  
  AAH69648 (Get FASTA)   NCBI Sequence Viewer  
  AAI04906 (Get FASTA)   NCBI Sequence Viewer  
  AAI13662 (Get FASTA)   NCBI Sequence Viewer  
  AAI43584 (Get FASTA)   NCBI Sequence Viewer  
  BAA06271 (Get FASTA)   NCBI Sequence Viewer  
  CAD89909 (Get FASTA)   NCBI Sequence Viewer  
  EAW63812 (Get FASTA)   NCBI Sequence Viewer  
  EAW63813 (Get FASTA)   NCBI Sequence Viewer  
  EAW63814 (Get FASTA)   NCBI Sequence Viewer  
  EAW63815 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000004531
  ENSP00000004531.10
  ENSP00000381164
  ENSP00000381164.3
  ENSP00000419140
  ENSP00000419140.2
  ENSP00000419873
  ENSP00000419873.2
  ENSP00000430464
  ENSP00000430464.1
  ENSP00000492016.2
GenBank Protein P52569 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001008539   ⟸   NM_001008539
- Peptide Label: isoform 2
- UniProtKB: Q6NSZ7 (UniProtKB/Swiss-Prot),   Q14CQ6 (UniProtKB/Swiss-Prot),   O15292 (UniProtKB/Swiss-Prot),   O15291 (UniProtKB/Swiss-Prot),   B7ZL54 (UniProtKB/Swiss-Prot),   Q86TC6 (UniProtKB/Swiss-Prot),   P52569 (UniProtKB/Swiss-Prot),   A0A1W2PR06 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001158243   ⟸   NM_001164771
- Peptide Label: isoform 3
- UniProtKB: A0A1W2PR06 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_003037   ⟸   NM_003046
- Peptide Label: isoform 1
- UniProtKB: A0A1W2PR06 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005273669   ⟸   XM_005273612
- Peptide Label: isoform X1
- UniProtKB: Q6NSZ7 (UniProtKB/Swiss-Prot),   Q14CQ6 (UniProtKB/Swiss-Prot),   O15292 (UniProtKB/Swiss-Prot),   O15291 (UniProtKB/Swiss-Prot),   B7ZL54 (UniProtKB/Swiss-Prot),   Q86TC6 (UniProtKB/Swiss-Prot),   P52569 (UniProtKB/Swiss-Prot),   A0A1W2PR06 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005273668   ⟸   XM_005273611
- Peptide Label: isoform X1
- UniProtKB: Q6NSZ7 (UniProtKB/Swiss-Prot),   Q14CQ6 (UniProtKB/Swiss-Prot),   O15292 (UniProtKB/Swiss-Prot),   O15291 (UniProtKB/Swiss-Prot),   B7ZL54 (UniProtKB/Swiss-Prot),   Q86TC6 (UniProtKB/Swiss-Prot),   P52569 (UniProtKB/Swiss-Prot),   A0A1W2PR06 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016869235   ⟸   XM_017013746
- Peptide Label: isoform X1
- UniProtKB: Q6NSZ7 (UniProtKB/Swiss-Prot),   Q14CQ6 (UniProtKB/Swiss-Prot),   O15292 (UniProtKB/Swiss-Prot),   O15291 (UniProtKB/Swiss-Prot),   B7ZL54 (UniProtKB/Swiss-Prot),   Q86TC6 (UniProtKB/Swiss-Prot),   P52569 (UniProtKB/Swiss-Prot),   A0A1W2PR06 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001357267   ⟸   NM_001370338
- Peptide Label: isoform 2
- UniProtKB: Q6NSZ7 (UniProtKB/Swiss-Prot),   Q14CQ6 (UniProtKB/Swiss-Prot),   P52569 (UniProtKB/Swiss-Prot),   O15292 (UniProtKB/Swiss-Prot),   O15291 (UniProtKB/Swiss-Prot),   B7ZL54 (UniProtKB/Swiss-Prot),   Q86TC6 (UniProtKB/Swiss-Prot),   A0A1W2PR06 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001357266   ⟸   NM_001370337
- Peptide Label: isoform 4
- UniProtKB: A0A9H4ATX5 (UniProtKB/TrEMBL),   A0A1W2PR06 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000381164   ⟸   ENST00000398090
RefSeq Acc Id: ENSP00000004531   ⟸   ENST00000004531
RefSeq Acc Id: ENSP00000419140   ⟸   ENST00000494857
RefSeq Acc Id: ENSP00000430464   ⟸   ENST00000522656
RefSeq Acc Id: ENSP00000492016   ⟸   ENST00000640220
RefSeq Acc Id: ENSP00000419873   ⟸   ENST00000470360
RefSeq Acc Id: XP_047278069   ⟸   XM_047422113
- Peptide Label: isoform X1
- UniProtKB: Q6NSZ7 (UniProtKB/Swiss-Prot),   Q14CQ6 (UniProtKB/Swiss-Prot),   P52569 (UniProtKB/Swiss-Prot),   O15292 (UniProtKB/Swiss-Prot),   O15291 (UniProtKB/Swiss-Prot),   B7ZL54 (UniProtKB/Swiss-Prot),   Q86TC6 (UniProtKB/Swiss-Prot),   A0A1W2PR06 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278070   ⟸   XM_047422114
- Peptide Label: isoform X1
- UniProtKB: Q6NSZ7 (UniProtKB/Swiss-Prot),   Q14CQ6 (UniProtKB/Swiss-Prot),   P52569 (UniProtKB/Swiss-Prot),   O15292 (UniProtKB/Swiss-Prot),   O15291 (UniProtKB/Swiss-Prot),   B7ZL54 (UniProtKB/Swiss-Prot),   Q86TC6 (UniProtKB/Swiss-Prot),   A0A1W2PR06 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278071   ⟸   XM_047422115
- Peptide Label: isoform X2
- UniProtKB: A0A9H4ATX5 (UniProtKB/TrEMBL),   A0A1W2PR06 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278072   ⟸   XM_047422116
- Peptide Label: isoform X2
- UniProtKB: A0A9H4ATX5 (UniProtKB/TrEMBL),   A0A1W2PR06 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217005   ⟸   XM_054361030
- Peptide Label: isoform X1
- UniProtKB: Q6NSZ7 (UniProtKB/Swiss-Prot),   Q14CQ6 (UniProtKB/Swiss-Prot),   P52569 (UniProtKB/Swiss-Prot),   O15292 (UniProtKB/Swiss-Prot),   O15291 (UniProtKB/Swiss-Prot),   B7ZL54 (UniProtKB/Swiss-Prot),   Q86TC6 (UniProtKB/Swiss-Prot),   A0A1W2PR06 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217003   ⟸   XM_054361028
- Peptide Label: isoform X1
- UniProtKB: Q6NSZ7 (UniProtKB/Swiss-Prot),   Q14CQ6 (UniProtKB/Swiss-Prot),   P52569 (UniProtKB/Swiss-Prot),   O15292 (UniProtKB/Swiss-Prot),   O15291 (UniProtKB/Swiss-Prot),   B7ZL54 (UniProtKB/Swiss-Prot),   Q86TC6 (UniProtKB/Swiss-Prot),   A0A1W2PR06 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217006   ⟸   XM_054361031
- Peptide Label: isoform X2
- UniProtKB: A0A9H4ATX5 (UniProtKB/TrEMBL),   A0A1W2PR06 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217007   ⟸   XM_054361032
- Peptide Label: isoform X2
- UniProtKB: A0A9H4ATX5 (UniProtKB/TrEMBL),   A0A1W2PR06 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217004   ⟸   XM_054361029
- Peptide Label: isoform X1
- UniProtKB: Q6NSZ7 (UniProtKB/Swiss-Prot),   Q14CQ6 (UniProtKB/Swiss-Prot),   P52569 (UniProtKB/Swiss-Prot),   O15292 (UniProtKB/Swiss-Prot),   O15291 (UniProtKB/Swiss-Prot),   B7ZL54 (UniProtKB/Swiss-Prot),   Q86TC6 (UniProtKB/Swiss-Prot),   A0A1W2PR06 (UniProtKB/TrEMBL)
Protein Domains
Cationic amino acid transporter C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P52569-F1-model_v2 AlphaFold P52569 1-658 view protein structure

Promoters
RGD ID:6807033
Promoter ID:HG_KWN:60805
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:UC003WXO.2,   UC003WXP.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36817,439,691 - 17,440,892 (+)MPROMDB
RGD ID:6807035
Promoter ID:HG_KWN:60806
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:UC010LSX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36817,444,841 - 17,445,392 (+)MPROMDB
RGD ID:7212697
Promoter ID:EPDNEW_H12094
Type:initiation region
Name:SLC7A2_2
Description:solute carrier family 7 member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12096  EPDNEW_H12095  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,494,354 - 17,494,414EPDNEW
RGD ID:7212701
Promoter ID:EPDNEW_H12095
Type:initiation region
Name:SLC7A2_1
Description:solute carrier family 7 member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12094  EPDNEW_H12096  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,497,088 - 17,497,148EPDNEW
RGD ID:7212699
Promoter ID:EPDNEW_H12096
Type:multiple initiation site
Name:SLC7A2_3
Description:solute carrier family 7 member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12094  EPDNEW_H12095  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,497,482 - 17,497,542EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11060 AgrOrtholog
COSMIC SLC7A2 COSMIC
Ensembl Genes ENSG00000003989 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000004531 ENTREZGENE
  ENST00000004531.14 UniProtKB/Swiss-Prot
  ENST00000398090 ENTREZGENE
  ENST00000398090.3 UniProtKB/Swiss-Prot
  ENST00000470360 ENTREZGENE
  ENST00000470360.5 UniProtKB/TrEMBL
  ENST00000494857 ENTREZGENE
  ENST00000494857.6 UniProtKB/Swiss-Prot
  ENST00000522656 ENTREZGENE
  ENST00000522656.5 UniProtKB/Swiss-Prot
  ENST00000640220.1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Gene3D-CATH Amino acid/polyamine transporter I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000003989 GTEx
HGNC ID HGNC:11060 ENTREZGENE
Human Proteome Map SLC7A2 Human Proteome Map
InterPro AA/rel_permease1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cat_AA_permease UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CAT_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6542 UniProtKB/Swiss-Prot
NCBI Gene 6542 ENTREZGENE
OMIM 601872 OMIM
PANTHER CATIONIC AMINO ACID TRANSPORTER 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CATIONIC AMINO ACID TRANSPORTER 2 UniProtKB/TrEMBL
  INNER MEMBRANE TRANSPORTER YGJI-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AA_permease_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AA_permease_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35920 PharmGKB
UniProt A0A1W2PR06 ENTREZGENE, UniProtKB/TrEMBL
  A0A9H4ATX5 ENTREZGENE, UniProtKB/TrEMBL
  B7ZL54 ENTREZGENE
  CTR2_HUMAN UniProtKB/Swiss-Prot
  O15291 ENTREZGENE
  O15292 ENTREZGENE
  P52569 ENTREZGENE
  Q14CQ6 ENTREZGENE
  Q6NSZ7 ENTREZGENE
  Q86TC6 ENTREZGENE
UniProt Secondary B7ZL54 UniProtKB/Swiss-Prot
  O15291 UniProtKB/Swiss-Prot
  O15292 UniProtKB/Swiss-Prot
  Q14CQ6 UniProtKB/Swiss-Prot
  Q6NSZ7 UniProtKB/Swiss-Prot
  Q86TC6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-08 SLC7A2  solute carrier family 7 member 2    solute carrier family 7 (cationic amino acid transporter, y+ system), member 2  Symbol and/or name change 5135510 APPROVED
2011-10-18 SLC7A2  solute carrier family 7 (cationic amino acid transporter, y+ system), member 2  SLC7A2  solute carrier family 7 (cationic amino acid transporter, y+ system), member 2  Symbol and/or name change 5135510 APPROVED