Slc7a2 (solute carrier family 7 (cationic amino acid transporter, y+ system), member 2) - Rat Genome Database

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Gene: Slc7a2 (solute carrier family 7 (cationic amino acid transporter, y+ system), member 2) Mus musculus
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Symbol: Slc7a2
Name: solute carrier family 7 (cationic amino acid transporter, y+ system), member 2
RGD ID: 68563
MGI Page MGI
Description: Enables L-arginine transmembrane transporter activity. Involved in L-arginine transmembrane transport and regulation of macrophage activation. Acts upstream of or within several processes, including macrophage activation; nitric oxide biosynthetic process; and nitric oxide production involved in inflammatory response. Located in membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; immune system; and respiratory system. Orthologous to human SLC7A2 (solute carrier family 7 member 2).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 20.5; AI158848; amino acid transporter, cationic 2 (low affinity); Atr; Atrc2; Cat; CAT-2; Cat2; cationic amino acid transporter 2; cationic amino acid transporter 2A; cationic amino acid transporter 2B; cationic transporter CAT2; expressed sequence AI158848; low affinity cationic amino acid transporter 2; solute carrier family 7 member 2; T-cell early activation protein; Te; Tea
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
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
JBrowse: View Region in Genome Browser (JBrowse)
Model


Object Symbol
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Original Reference(s)
Slc7a2Mousehereditary spastic paraplegia 53  ISORGD:685628554872ClinVar Annotator: match by term: Hereditary spastic paraplegia 53ClinVarPMID:28492532
Slc7a2Mousemyoepithelioma  ISORGD:685628554872ClinVar Annotator: match by term: Myoepithelial tumorClinVar 
Object Symbol
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Original Reference(s)
Slc7a2Mousebasal cell carcinoma  ISORGD:6856211554173CTD Direct Evidence: marker/mechanismCTDPMID:36428691

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Original Reference(s)
Slc7a2Mouse(1->4)-beta-D-glucan multiple interactionsEXP 6480464[perfluorooctane sulfonic acid co-treated with Cellulose] results in decreased expression of SLC7A2 mRNACTDPMID:36331819
Slc7a2Mouse17alpha-ethynylestradiol multiple interactionsEXP 6480464[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SLC7A2 mRNACTDPMID:17942748
Slc7a2Mouse17beta-estradiol multiple interactionsISORGD:685626480464[Progesterone co-treated with Estradiol] results in increased expression of SLC7A2 mRNACTDPMID:17404688
Slc7a2Mouse17beta-estradiol decreases expressionEXP 6480464Estradiol results in decreased expression of SLC7A2 mRNACTDPMID:39298647
Slc7a2Mouse17beta-estradiol affects expressionISORGD:683876480464Estradiol affects the expression of SLC7A2 mRNACTDPMID:32145629
Slc7a2Mouse17beta-estradiol increases expressionISORGD:685626480464Estradiol results in increased expression of SLC7A2 mRNACTDPMID:19167446|PMID:32387340|PMID:36828454
Slc7a2Mouse17beta-estradiol decreases expressionISORGD:685626480464Estradiol results in decreased expression of SLC7A2 mRNACTDPMID:21185374
Slc7a2Mouse2,3,7,8-tetrachlorodibenzodioxine multiple interactionsEXP 6480464[Tetrachlorodibenzodioxin affects the methylation of SLC7A2 intron] which results in decreased expression of SLC7A2 mRNA; more ...CTDPMID:17942748|PMID:33017471
Slc7a2Mouse2,3,7,8-tetrachlorodibenzodioxine affects expressionEXP 6480464Tetrachlorodibenzodioxin affects the expression of SLC7A2 mRNACTDPMID:21570461|PMID:26377647|PMID:28922406
Slc7a2Mouse2,3,7,8-tetrachlorodibenzodioxine decreases expressionISORGD:683876480464Tetrachlorodibenzodioxin results in decreased expression of SLC7A2 mRNACTDPMID:21215274|PMID:32277265|PMID:33387578
Slc7a2Mouse2,3,7,8-tetrachlorodibenzodioxine affects expressionISORGD:683876480464Tetrachlorodibenzodioxin affects the expression of SLC7A2 mRNACTDPMID:22298810|PMID:32109520
Slc7a2Mouse2,3,7,8-tetrachlorodibenzodioxine decreases expressionEXP 6480464Tetrachlorodibenzodioxin results in decreased expression of SLC7A2 mRNACTDPMID:19770486|PMID:19933214
Slc7a2Mouse2,3,7,8-Tetrachlorodibenzofuran decreases expressionISORGD:6838764804642,3,7,8-tetrachlorodibenzofuran results in decreased expression of SLC7A2 mRNACTDPMID:32109520
Slc7a2Mouse2,4-dibromophenyl 2,4,5-tribromophenyl ether affects expressionEXP 64804642,2',4,4',5-brominated diphenyl ether affects the expression of SLC7A2 mRNACTDPMID:38648751
Slc7a2Mouse3,3',4,4'-tetrachlorobiphenyl multiple interactionsEXP 64804643,4,3',4'-tetrachlorobiphenyl inhibits the reaction [Dietary Fats results in increased expression of SLC7A2 mRNA]CTDPMID:19467301
Slc7a2Mouse3,3',5,5'-tetrabromobisphenol A decreases expressionEXP 6480464tetrabromobisphenol A results in decreased expression of SLC7A2 mRNACTDPMID:25172293
Slc7a2Mouse3-iodothyronamine affects uptakeISORGD:685626480464SLC7A2 mRNA affects the uptake of 3-iodothyronamineCTDPMID:19074582
Slc7a2Mouse4,4'-diaminodiphenylmethane increases expressionEXP 64804644,4'-diaminodiphenylmethane results in increased expression of SLC7A2 mRNACTDPMID:18648102
Slc7a2Mouse4,4'-sulfonyldiphenol increases expressionEXP 6480464bisphenol S results in increased expression of SLC7A2 mRNACTDPMID:30951980
Slc7a2Mouse4,4'-sulfonyldiphenol decreases expressionEXP 6480464bisphenol S results in decreased expression of SLC7A2 mRNACTDPMID:39298647

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Biological Process
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Original Reference(s)
Slc7a2Mouseamino acid import across plasma membrane involved_inISOUniProtKB:P525692290270 GO_CentralGO_REF:0000119
Slc7a2Mouseestablishment of localization in cell acts_upstream_of_or_withinIMPMGI:21503592290270 PMID:11278602, PMID:12675924MGIPMID:11278602|PMID:12675924
Slc7a2MouseL-alpha-amino acid transmembrane transport involved_inISOUniProtKB:P525692290270 GO_CentralGO_REF:0000119
Slc7a2MouseL-amino acid transport involved_inISOUniProtKB:P525692290270 GO_CentralGO_REF:0000119
Slc7a2MouseL-arginine import across plasma membrane involved_inIBAPANTHER:PTN008450038|UniProtKB:P52569|RGD:3716|UniProtKB:B3TP032290270 GO_CentralGO_REF:0000033
Slc7a2MouseL-arginine import across plasma membrane involved_inISOUniProtKB:P525692290270 GO_CentralGO_REF:0000119
Slc7a2MouseL-arginine transmembrane transport involved_inISORGD:683872290270 GO_CentralGO_REF:0000096
Slc7a2MouseL-arginine transmembrane transport acts_upstream_of_or_withinIMPMGI:21503592290270 PMID:11278602, PMID:12675924MGIPMID:11278602|PMID:12675924
Slc7a2MouseL-arginine transmembrane transport involved_inISOUniProtKB:P525692290270 GO_CentralGO_REF:0000119
Slc7a2MouseL-arginine transmembrane transport involved_inIDA 2290270 PMID:9174363UniProtPMID:9174363
Slc7a2MouseL-arginine transmembrane transport  ISORGD:683879068941 RGDPMID:11329533|PMID:16998217|PMID:8626679|REF_RGD_ID:1642931|REF_RGD_ID:1642932|REF_RGD_ID:1642934
Slc7a2MouseL-ornithine transmembrane transport involved_inIBAPANTHER:PTN008450038|MGI:881172290270 GO_CentralGO_REF:0000033
Slc7a2Mousemacrophage activation acts_upstream_of_or_withinIMPMGI:21503592290270 PMID:16703566MGIPMID:16703566
Slc7a2Mousenitric oxide biosynthetic process acts_upstream_of_or_withinIMPMGI:21503592290270 PMID:12675924MGIPMID:12675924
Slc7a2Mousenitric oxide production involved in inflammatory response acts_upstream_of_or_withinIMPMGI:21503592290270 PMID:11278602, PMID:17003120MGIPMID:11278602|PMID:17003120
Slc7a2Mouseregulation of inflammatory response acts_upstream_of_or_withinIMPMGI:21503592290270 PMID:17003120MGIPMID:17003120
Slc7a2Mouseregulation of macrophage activation involved_inIMP 2290270 PMID:16670299UniProtPMID:16670299
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Cellular Component

  
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Original Reference(s)
Slc7a2Mousecell junction located_inISOUniProtKB:P525692290270 GO_CentralGO_REF:0000119
Slc7a2Mousemembrane located_inIDA 2290270 PMID:8187816MGIPMID:8187816
Slc7a2Mouseplasma membrane located_inISOUniProtKB:P525692290270 GO_CentralGO_REF:0000119
Slc7a2Mouseplasma membrane located_inIEAUniProtKB-SubCell:SL-00392290270 UniProtGO_REF:0000044
Slc7a2Mouseplasma membrane is_active_inIBAPANTHER:PTN000926816|UniProtKB:B3TP03|UniProtKB:Q8WY07|UniProtKB:P52569|UniProtKB:P30825|RGD:3716|UniProtKB:Q8TBB62290270 GO_CentralGO_REF:0000033

Molecular Function
1 to 10 of 10 rows

  
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Original Reference(s)
Slc7a2Mouseamino acid transmembrane transporter activity enablesISOUniProtKB:P525692290270 GO_CentralGO_REF:0000119
Slc7a2MouseL-amino acid transmembrane transporter activity enablesISOUniProtKB:P525692290270 GO_CentralGO_REF:0000119
Slc7a2MouseL-arginine transmembrane transporter activity enablesISORGD:683872290270 GO_CentralGO_REF:0000096
Slc7a2MouseL-arginine transmembrane transporter activity enablesISOUniProtKB:P525692290270 GO_CentralGO_REF:0000119
Slc7a2MouseL-arginine transmembrane transporter activity enablesIDA 2290270 PMID:9174363UniProtPMID:9174363
Slc7a2MouseL-arginine transmembrane transporter activity enablesIMPMGI:21503592290270 PMID:11278602, PMID:12675924MGIPMID:11278602|PMID:12675924
Slc7a2MouseL-arginine transmembrane transporter activity  ISORGD:683879068941 RGDPMID:11329533|PMID:16998217|PMID:8626679|REF_RGD_ID:1642931|REF_RGD_ID:1642932|REF_RGD_ID:1642934
Slc7a2MouseL-arginine transmembrane transporter activity enablesIBAPANTHER:PTN008450038|UniProtKB:P30825|UniProtKB:P52569|RGD:3716|RGD:68387|UniProtKB:B3TP03|MGI:88117|MGI:998282290270 GO_CentralGO_REF:0000033
Slc7a2MouseL-lysine transmembrane transporter activity enablesIBAPANTHER:PTN008450038|UniProtKB:B3TP03|MGI:88117|UniProtKB:P308252290270 GO_CentralGO_REF:0000033
Slc7a2MouseL-ornithine transmembrane transporter activity enablesIBAPANTHER:PTN008450038|MGI:881172290270 GO_CentralGO_REF:0000033
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Imported Annotations - SMPDB

Object Symbol
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Original Reference(s)
Slc7a2Mouse2-aminoadipic 2-oxoadipic aciduria pathway  ISORGD:6856210402751 SMPDBSMP:00719
Slc7a2Mouseglutaric aciduria type I pathway  ISORGD:6856210402751 SMPDBSMP:00186
Slc7a2Mousehyperlysinemia pathway  ISORGD:6856210402751 SMPDBSMP:00527
Slc7a2Mouselysine degradation pathway  ISORGD:6856210402751 SMPDBSMP:00037
Slc7a2Mousesaccharopinuria pathway  ISORGD:6856210402751 SMPDBSMP:00239
Slc7a2Mousesaccharopinuria pathway  ISORGD:6856210402751 SMPDBSMP:00528

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#
Reference Title
Reference Citation
1. Functional annotation of a full-length mouse cDNA collection. Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90.
2. Electronic Transfer of Homolog Data MGD and Homologene mouse data transfer
3. MGDs mouse GO annotations MGD data from the GO Consortium
4. MGD IEA MGD IEA
5. Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73.
6. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
7. Mouse MP Annotation Import Pipeline RGD automated import pipeline
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
1 to 9 of 9 rows
PMID:1387105   PMID:1694015   PMID:1887331   PMID:7568136   PMID:7724615   PMID:7941361   PMID:8187816   PMID:8195186   PMID:8382989   PMID:8385111   PMID:8417372   PMID:8474450  
PMID:8672127   PMID:8878860   PMID:8954799   PMID:9174363   PMID:9287114   PMID:9334265   PMID:9560283   PMID:10349636   PMID:10512203   PMID:10922068   PMID:11042159   PMID:11076861  
PMID:11278602   PMID:11829538   PMID:12477932   PMID:12675924   PMID:14610273   PMID:14691545   PMID:15631944   PMID:15659399   PMID:15840001   PMID:16141072   PMID:16141073   PMID:16239143  
PMID:16371438   PMID:16670299   PMID:16703566   PMID:17003120   PMID:17387163   PMID:17644755   PMID:18369473   PMID:18799693   PMID:20576117   PMID:21267068   PMID:21873635   PMID:22194986  
PMID:22361732   PMID:23009292   PMID:23460752   PMID:23703655   PMID:24194600   PMID:25619276   PMID:26491198   PMID:27357826   PMID:27783672   PMID:30202097   PMID:30628488   PMID:30858471  
PMID:32325033   PMID:33135877   PMID:36572564   PMID:38203268   PMID:38355793   PMID:38419038  



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
(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
(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

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Variants in Slc7a2
3450 total Variants

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Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1 copy number loss See cases [RCV000052142] Chr5:138871137..145812309 [GRCh38]
Chr5:138206826..145191872 [GRCh37]
Chr5:138234725..145172065 [NCBI36]
Chr5:5q31.2-32
pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2
pathogenic
NM_017747.2(ANKHD1):c.3264T>C (p.Gly1088=) single nucleotide variant Malignant melanoma [RCV000066663] Chr5:140505725 [GRCh38]
Chr5:139885310 [GRCh37]
Chr5:139865494 [NCBI36]
Chr5:5q31.3
not provided
NM_017747.2(ANKHD1):c.3421C>G (p.Leu1141Val) single nucleotide variant Malignant melanoma [RCV000066664] Chr5:140506847 [GRCh38]
Chr5:139886432 [GRCh37]
Chr5:139866616 [NCBI36]
Chr5:5q31.3
not provided
NM_017747.2(ANKHD1):c.3422T>C (p.Leu1141Pro) single nucleotide variant Malignant melanoma [RCV000066665] Chr5:140506848 [GRCh38]
Chr5:139886433 [GRCh37]
Chr5:139866617 [NCBI36]
Chr5:5q31.3
not provided
GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3 copy number gain See cases [RCV000134725] Chr5:137836682..140696361 [GRCh38]
Chr5:137172371..140075946 [GRCh37]
Chr5:137200270..140056130 [NCBI36]
Chr5:5q31.2-31.3
pathogenic
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:138942857-144605017)x3 copy number gain See cases [RCV000142806] Chr5:138942857..144605017 [GRCh38]
Chr5:138278546..143984580 [GRCh37]
Chr5:138306445..143964773 [NCBI36]
Chr5:5q31.2-31.3
uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
1 to 10 of 38 rows

Predicted Target Of
Summary Value
Count of predictions:5063
Count of miRNA genes:821
Interacting mature miRNAs:1126
Transcripts:ENSMUST00000057784, ENSMUST00000098816, ENSMUST00000117077, ENSMUST00000118432, ENSMUST00000141505
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


1 to 10 of 29 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
1301139Lmr10_mleishmaniasis resistance 10 (mouse)Not determined83532109757797633Mouse
1558870Eae36_mexperimental allergic encephalomyelitis susceptibility 36 (mouse)Not determined81477316071498244Mouse
11049577Lmr10b_mleishmaniasis resistance 10b (mouse)83532109757797633Mouse
4141437W10q14_mweight 10 weeks QTL 14 (mouse)Not determined3250657271740637Mouse
11049578Lmr10c_mleishmaniasis resistance 10c (mouse)83532109757797633Mouse
11041902Lmr10a_mleishmaniasis resistance 10a (mouse)83532109757797633Mouse
1301013Capsq4_mcapsaicin sensitivity related QTL 4 (mouse)Not determined83663015493455280Mouse
4141172W6q9_mweight 6 weeks QTL 9 (mouse)Not determined3250657271740637Mouse
1558875Eae31_mexperimental allergic encephalomyelitis susceptibility 31 (mouse)Not determined835109930115563747Mouse
10043990Hbnr12_mHeligmosomoides bakeri nematode resistance 12 (mouse)Not determined83327701651290537Mouse

1 to 10 of 29 rows
L29006  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38840,916,624 - 40,916,789UniSTSGRCm38
MGSCv37842,001,978 - 42,002,143UniSTSGRCm37
Celera843,549,912 - 43,550,077UniSTS
Cytogenetic Map8A4UniSTS
cM Map821.0UniSTS
Whitehead_YAC8 UniSTS
AI158848  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38840,921,633 - 40,921,932UniSTSGRCm38
MGSCv37842,006,987 - 42,007,286UniSTSGRCm37
Celera843,555,062 - 43,555,361UniSTS
Cytogenetic Map8A4UniSTS
cM Map821.0UniSTS
Whitehead/MRC_RH8494.95UniSTS
Slc7a2  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8A4UniSTS
cM Map821.0UniSTS
Slc7a2  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8A4UniSTS






1 to 30 of 31 rows
RefSeq Transcripts NM_001044740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006509250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006509251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006509252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006509253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC116511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI158848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ293303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK004330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK154621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK155558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK169923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK171369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BB648063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH466554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN710433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX212155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ086834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L03290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L11600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L29006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M62838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U35648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U35649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U35650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U35651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U35652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U35653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 30 of 31 rows

Ensembl Acc Id: ENSMUST00000057784   ⟹   ENSMUSP00000058866
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl841,315,449 - 41,375,345 (+)Ensembl
GRCm38.p6 Ensembl840,862,412 - 40,922,308 (+)Ensembl
Ensembl Acc Id: ENSMUST00000098816   ⟹   ENSMUSP00000096414
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl841,315,433 - 41,371,093 (+)Ensembl
GRCm38.p6 Ensembl840,862,396 - 40,918,056 (+)Ensembl
Ensembl Acc Id: ENSMUST00000117077   ⟹   ENSMUSP00000113729
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl841,327,985 - 41,375,107 (+)Ensembl
GRCm38.p6 Ensembl840,874,948 - 40,922,070 (+)Ensembl
Ensembl Acc Id: ENSMUST00000118432   ⟹   ENSMUSP00000112848
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl841,351,475 - 41,370,763 (+)Ensembl
GRCm38.p6 Ensembl840,898,438 - 40,917,726 (+)Ensembl
Ensembl Acc Id: ENSMUST00000141505   ⟹   ENSMUSP00000114675
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl841,315,615 - 41,352,019 (+)Ensembl
GRCm38.p6 Ensembl840,862,578 - 40,898,982 (+)Ensembl
RefSeq Acc Id: NM_001044740   ⟹   NP_001038205
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39841,315,404 - 41,375,107 (+)NCBI
GRCm38840,862,367 - 40,922,070 (+)ENTREZGENE
MGSCv37841,947,721 - 42,007,424 (+)RGD
Celera843,496,255 - 43,555,499 (+)RGD
cM Map8 ENTREZGENE
Sequence:
RefSeq Acc Id: NM_007514   ⟹   NP_031540
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39841,315,404 - 41,375,107 (+)NCBI
GRCm38840,862,367 - 40,922,070 (+)ENTREZGENE
MGSCv37841,947,721 - 42,007,424 (+)RGD
Celera843,496,255 - 43,555,499 (+)RGD
cM Map8 ENTREZGENE
Sequence:
RefSeq Acc Id: XM_006509250   ⟹   XP_006509313
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39841,345,174 - 41,375,107 (+)NCBI
GRCm38840,892,121 - 40,922,070 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006509251   ⟹   XP_006509314
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39841,345,179 - 41,375,107 (+)NCBI
GRCm38840,892,131 - 40,922,070 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006509252   ⟹   XP_006509315
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39841,334,177 - 41,375,107 (+)NCBI
GRCm38840,881,140 - 40,922,070 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006509253   ⟹   XP_006509316
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39841,315,420 - 41,375,107 (+)NCBI
GRCm38840,862,341 - 40,922,070 (+)NCBI
Sequence:
1 to 5 of 11 rows
1 to 5 of 11 rows
RefSeq Acc Id: NP_031540   ⟸   NM_007514
- Peptide Label: isoform 1
- UniProtKB: Q3TB99 (UniProtKB/Swiss-Prot),   Q38RA6 (UniProtKB/Swiss-Prot),   E9QPL9 (UniProtKB/Swiss-Prot),   Q3U3R5 (UniProtKB/Swiss-Prot),   P18581 (UniProtKB/Swiss-Prot),   E9QJY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001038205   ⟸   NM_001044740
- Peptide Label: isoform 2
- UniProtKB: E9QJY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006509316   ⟸   XM_006509253
- Peptide Label: isoform X4
- UniProtKB: E9QJY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006509315   ⟸   XM_006509252
- Peptide Label: isoform X3
- UniProtKB: E9QJY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006509313   ⟸   XM_006509250
- Peptide Label: isoform X1
- UniProtKB: E9QJY0 (UniProtKB/TrEMBL)
- Sequence:
Name Modeler Protein Id AA Range Protein Structure
AF-P18581-F1-model_v2 AlphaFold P18581 1-657 view protein structure

RGD ID:8666943
Promoter ID:EPDNEW_M11503
Type:initiation region
Name:Slc7a2_1
Description:Mus musculus solute carrier family 7 (cationic amino acid transporter,y+ system), member 2 , transcript variant 2, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M11504  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38840,862,394 - 40,862,454EPDNEW
RGD ID:8666945
Promoter ID:EPDNEW_M11504
Type:single initiation site
Name:Slc7a2_2
Description:Mus musculus solute carrier family 7 (cationic amino acid transporter,y+ system), member 2 , transcript variant 2, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M11503  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38840,894,765 - 40,894,825EPDNEW
RGD ID:6843736
Promoter ID:MM_KWN:54234
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:BoneMarrow_2Hour,   BoneMarrow_4Hour,   Liver,   MEF_B4
Transcripts:ENSMUST00000098816,   OTTMUST00000078362,   OTTMUST00000078366
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36841,947,596 - 41,948,096 (+)MPROMDB
RGD ID:6843738
Promoter ID:MM_KWN:54235
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:BoneMarrow_4Hour,   Liver
Transcripts:ENSMUST00000117077
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36841,960,236 - 41,960,736 (+)MPROMDB
RGD ID:6843739
Promoter ID:MM_KWN:54236
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:BoneMarrow_4Hour,   Liver
Transcripts:ENSMUST00000118432
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36841,983,371 - 41,984,652 (+)MPROMDB


1 to 31 of 31 rows
Database
Acc Id
Source(s)
Ensembl Genes ENSMUSG00000031596 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSMUST00000057784 ENTREZGENE
  ENSMUST00000057784.15 UniProtKB/Swiss-Prot
  ENSMUST00000098816 ENTREZGENE
  ENSMUST00000098816.10 UniProtKB/Swiss-Prot
  ENSMUST00000117077.8 UniProtKB/Swiss-Prot
  ENSMUST00000118432 ENTREZGENE
Gene3D-CATH Amino acid/polyamine transporter I UniProtKB/Swiss-Prot
InterPro AA/rel_permease1 UniProtKB/Swiss-Prot
  Cat_AA_permease UniProtKB/Swiss-Prot
  CAT_C UniProtKB/Swiss-Prot
KEGG Report mmu:11988 UniProtKB/Swiss-Prot
MGD MGI:99828 ENTREZGENE
NCBI Gene 11988 ENTREZGENE
PANTHER CATIONIC AMINO ACID TRANSPORTER 2 UniProtKB/Swiss-Prot
  INNER MEMBRANE TRANSPORTER YGJI-RELATED UniProtKB/Swiss-Prot
Pfam AA_permease_2 UniProtKB/Swiss-Prot
  AA_permease_C UniProtKB/Swiss-Prot
PhenoGen Slc7a2 PhenoGen
UniProt A0A1C7ZMY5_MOUSE UniProtKB/TrEMBL
  CTR2_MOUSE UniProtKB/Swiss-Prot
  E9QJY0 ENTREZGENE, UniProtKB/TrEMBL
  E9QPL9 ENTREZGENE
  P18581 ENTREZGENE
  Q38RA6 ENTREZGENE
  Q3TB99 ENTREZGENE
  Q3U3R5 ENTREZGENE
UniProt Secondary E9QPL9 UniProtKB/Swiss-Prot
  Q38RA6 UniProtKB/Swiss-Prot
  Q3TB99 UniProtKB/Swiss-Prot
  Q3U3R5 UniProtKB/Swiss-Prot
1 to 31 of 31 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-24 Slc7a2  solute carrier family 7 (cationic amino acid transporter, y+ system), member 2  AI158848  expressed sequence AI158848  Data merged from RGD:1611103 737654 PROVISIONAL