PTPN6 (protein tyrosine phosphatase non-receptor type 6) - Rat Genome Database

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Gene: PTPN6 (protein tyrosine phosphatase non-receptor type 6) Homo sapiens
Analyze
Symbol: PTPN6
Name: protein tyrosine phosphatase non-receptor type 6
RGD ID: 734188
HGNC Page HGNC
Description: Enables several functions, including phosphorylation-dependent protein binding activity; phosphotyrosine residue binding activity; and transmembrane receptor protein tyrosine phosphatase activity. Involved in several processes, including cellular protein modification process; negative regulation of peptidyl-tyrosine phosphorylation; and regulation of intracellular signal transduction. Located in cytoplasm; nucleolus; and nucleoplasm. Part of protein-containing complex. Biomarker of anogenital venereal wart and cervical cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HCP; HCPH; hematopoietic cell phosphatase; hematopoietic cell protein-tyrosine phosphatase; HPTP1C; protein-tyrosine phosphatase 1C; protein-tyrosine phosphatase SHP-1; PTP-1C; SH-PTP1; SHP-1; SHP-1L; SHP1; tyrosine-protein phosphatase non-receptor type 6
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
GRCh38126,946,577 - 6,961,316 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl126,946,468 - 6,961,316 (+)EnsemblGRCh38hg38GRCh38
GRCh37127,055,740 - 7,070,479 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36126,926,001 - 6,940,740 (+)NCBINCBI36hg18NCBI36
Build 34126,930,762 - 6,940,740NCBI
Celera128,674,361 - 8,691,497 (+)NCBI
Cytogenetic Map12p13.31NCBI
HuRef126,911,844 - 6,928,943 (+)NCBIHuRef
CHM1_1127,054,727 - 7,069,431 (+)NCBICHM1_1
T2T-CHM13v2.0126,957,743 - 6,974,790 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2,4-diaminotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
5-aza-2'-deoxycytidine  (EXP)
acetamide  (ISO)
acrylamide  (EXP)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
all-trans-retinol  (ISO)
ammonium chloride  (ISO)
anthranilic acid  (EXP)
antirheumatic drug  (EXP)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
bortezomib  (EXP)
carbon nanotube  (ISO)
chlordecone  (ISO)
chloroprene  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
curcumin  (EXP)
cyclosporin A  (EXP,ISO)
diarsenic trioxide  (EXP)
digitoxin  (EXP)
elemental selenium  (EXP)
emodin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
flavonoids  (ISO)
fonofos  (EXP)
gentamycin  (ISO)
hydrogen peroxide  (EXP,ISO)
lead diacetate  (ISO)
lipopolysaccharide  (ISO)
methoxyacetic acid  (ISO)
methoxychlor  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
parathion  (EXP)
PD123319  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
raloxifene  (EXP)
rotenone  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (ISO)
sodium chloride  (EXP)
sodium stibogluconate  (EXP)
Soman  (ISO)
terbufos  (EXP)
tetrachloromethane  (ISO)
tetraphene  (ISO)
titanium dioxide  (ISO)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
trimethyltin  (ISO)
valproic acid  (EXP)
valsartan  (ISO)
vinclozolin  (ISO)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
abortive mitotic cell cycle  (IEA,ISO)
B cell receptor signaling pathway  (IEA,ISO)
cell differentiation  (IBA,IDA)
cellular response to macrophage colony-stimulating factor stimulus  (ISO)
cytokine-mediated signaling pathway  (TAS)
dephosphorylation  (IEA)
epididymis development  (IEA)
G protein-coupled receptor signaling pathway  (TAS)
hematopoietic progenitor cell differentiation  (IEA,ISO)
intracellular signal transduction  (IBA,IEA,ISO)
MAPK cascade  (IEA,ISO)
megakaryocyte development  (IEA,ISO)
mitotic cell cycle  (IBA)
natural killer cell mediated cytotoxicity  (IEA,ISO)
negative regulation of cell population proliferation  (NAS)
negative regulation of humoral immune response mediated by circulating immunoglobulin  (IEA,ISO)
negative regulation of interleukin-6 production  (IEA,ISS)
negative regulation of MAP kinase activity  (IEA,ISO)
negative regulation of MAPK cascade  (IEA,ISO)
negative regulation of mast cell activation involved in immune response  (IEA)
negative regulation of peptidyl-tyrosine phosphorylation  (IEA,IMP,ISO)
negative regulation of T cell proliferation  (IEA,ISO)
negative regulation of T cell receptor signaling pathway  (IEA,ISO)
negative regulation of tumor necrosis factor production  (IEA,ISS)
peptidyl-tyrosine dephosphorylation  (IBA,IMP)
peptidyl-tyrosine phosphorylation  (IDA,IEA,ISO)
platelet aggregation  (IEA,ISO)
platelet formation  (IEA,ISO)
positive regulation of cell adhesion mediated by integrin  (IEA,ISO)
positive regulation of cell population proliferation  (IMP)
positive regulation of phosphatidylinositol 3-kinase signaling  (IMP)
protein dephosphorylation  (IDA,IEA,ISO)
regulation of apoptotic process  (TAS)
regulation of B cell differentiation  (IEA,ISO)
regulation of ERK1 and ERK2 cascade  (IDA)
regulation of G1/S transition of mitotic cell cycle  (IMP)
regulation of release of sequestered calcium ion into cytosol  (IEA,ISO)
regulation of type I interferon-mediated signaling pathway  (TAS)
response to axon injury  (ISO)
response to wounding  (ISO)
T cell costimulation  (TAS)
T cell proliferation  (IEA,ISO)
T cell receptor signaling pathway  (IEA,ISO)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1639416   PMID:1652101   PMID:1732748   PMID:1736296   PMID:7228577   PMID:7512963   PMID:7518460   PMID:7528537   PMID:7528577   PMID:7539038   PMID:7539106   PMID:7618087  
PMID:7629131   PMID:7665165   PMID:7673163   PMID:7684496   PMID:7716523   PMID:7781604   PMID:7889566   PMID:8114715   PMID:8125298   PMID:8246974   PMID:8524272   PMID:8541543  
PMID:8574854   PMID:8577729   PMID:8627166   PMID:8632004   PMID:8638162   PMID:8647855   PMID:8648092   PMID:8691146   PMID:8691154   PMID:8692915   PMID:8760799   PMID:8780698  
PMID:8790380   PMID:8943344   PMID:8943354   PMID:9029147   PMID:9045636   PMID:9064344   PMID:9074930   PMID:9148918   PMID:9151699   PMID:9162089   PMID:9211920   PMID:9244303  
PMID:9254654   PMID:9261115   PMID:9285411   PMID:9285412   PMID:9305905   PMID:9368621   PMID:9379041   PMID:9405464   PMID:9452499   PMID:9482905   PMID:9485206   PMID:9507021  
PMID:9520455   PMID:9528781   PMID:9531263   PMID:9590210   PMID:9603468   PMID:9632636   PMID:9632768   PMID:9712903   PMID:9733788   PMID:9740800   PMID:9765283   PMID:9774441  
PMID:9774457   PMID:9788431   PMID:9813145   PMID:9842885   PMID:9867848   PMID:9890995   PMID:9973385   PMID:10072516   PMID:10082557   PMID:10206955   PMID:10228003   PMID:10229828  
PMID:10350061   PMID:10457220   PMID:10458769   PMID:10488096   PMID:10497187   PMID:10506221   PMID:10506573   PMID:10521452   PMID:10540326   PMID:10556798   PMID:10574931   PMID:10585470  
PMID:10617656   PMID:10640770   PMID:10660565   PMID:10660620   PMID:10747947   PMID:10764762   PMID:10772872   PMID:10790433   PMID:10800945   PMID:10835420   PMID:10871605   PMID:10887109  
PMID:10903717   PMID:10903736   PMID:10940933   PMID:11001933   PMID:11027300   PMID:11042209   PMID:11114375   PMID:11160222   PMID:11162587   PMID:11171044   PMID:11178971   PMID:11266449  
PMID:11278955   PMID:11294838   PMID:11328818   PMID:11337495   PMID:11356834   PMID:11414741   PMID:11489943   PMID:11511520   PMID:11544253   PMID:11551923   PMID:11714803   PMID:11723252  
PMID:11786908   PMID:11812650   PMID:11826756   PMID:11858824   PMID:11895767   PMID:11907066   PMID:11907092   PMID:11920268   PMID:11964172   PMID:11986327   PMID:11987243   PMID:12051764  
PMID:12130517   PMID:12145285   PMID:12145687   PMID:12163025   PMID:12176037   PMID:12176909   PMID:12196526   PMID:12198247   PMID:12361947   PMID:12393607   PMID:12438221   PMID:12459556  
PMID:12468540   PMID:12468645   PMID:12477932   PMID:12482860   PMID:12571228   PMID:12591278   PMID:12646642   PMID:12705885   PMID:12734331   PMID:12774026   PMID:12791978   PMID:12796776  
PMID:12832410   PMID:12882840   PMID:12887919   PMID:12917349   PMID:14500659   PMID:14551136   PMID:14630083   PMID:14662855   PMID:14672952   PMID:14691303   PMID:14699166   PMID:14976049  
PMID:15070900   PMID:15184070   PMID:15187115   PMID:15197735   PMID:15238421   PMID:15269224   PMID:15339845   PMID:15456853   PMID:15489334   PMID:15549731   PMID:15557341   PMID:15574429  
PMID:15579525   PMID:15588985   PMID:15701718   PMID:15703304   PMID:15746253   PMID:15831474   PMID:15870198   PMID:16169070   PMID:16254138   PMID:16326706   PMID:16339535   PMID:16341674  
PMID:16344560   PMID:16453023   PMID:16482509   PMID:16493035   PMID:16501054   PMID:17046078   PMID:17079228   PMID:17142110   PMID:17143285   PMID:17218319   PMID:17227821   PMID:17239936  
PMID:17272397   PMID:17404032   PMID:17416557   PMID:17561098   PMID:17562706   PMID:17579069   PMID:17947393   PMID:18029348   PMID:18086677   PMID:18174230   PMID:18209728   PMID:18377662  
PMID:18424730   PMID:18441283   PMID:18502033   PMID:18604210   PMID:18729074   PMID:18802077   PMID:18948549   PMID:18952289   PMID:19056867   PMID:19096001   PMID:19104650   PMID:19166311  
PMID:19167335   PMID:19204726   PMID:19234487   PMID:19379557   PMID:19398961   PMID:19542910   PMID:19543515   PMID:19551406   PMID:19561639   PMID:19591923   PMID:19619438   PMID:19749791  
PMID:19786618   PMID:19789387   PMID:19838216   PMID:19843936   PMID:19874234   PMID:19950550   PMID:20068065   PMID:20117097   PMID:20130595   PMID:20196786   PMID:20351292   PMID:20398180  
PMID:20424160   PMID:20458337   PMID:20687222   PMID:20696858   PMID:20840866   PMID:20933011   PMID:21291405   PMID:21357539   PMID:21406173   PMID:21465528   PMID:21505184   PMID:21505186  
PMID:21536801   PMID:21604205   PMID:21719561   PMID:21799016   PMID:21806449   PMID:21818116   PMID:21821701   PMID:21900501   PMID:21964525   PMID:22043923   PMID:22180308   PMID:22210881  
PMID:22258937   PMID:22371396   PMID:22458809   PMID:22458980   PMID:22488585   PMID:22539788   PMID:22589543   PMID:22624718   PMID:22730659   PMID:22738830   PMID:22797910   PMID:22939629  
PMID:22960265   PMID:22973453   PMID:23001144   PMID:23074279   PMID:23112346   PMID:23391724   PMID:23406209   PMID:23640895   PMID:23696226   PMID:23729600   PMID:23766558   PMID:23824557  
PMID:23842094   PMID:23948750   PMID:23979523   PMID:24100145   PMID:24216507   PMID:24510345   PMID:24587194   PMID:24642916   PMID:24647617   PMID:24793756   PMID:24824657   PMID:24886428  
PMID:24952874   PMID:25187647   PMID:25416956   PMID:25535246   PMID:25619838   PMID:25635370   PMID:25785436   PMID:25799543   PMID:25814554   PMID:25824741   PMID:25897665   PMID:25962492  
PMID:26081980   PMID:26186194   PMID:26215037   PMID:26334669   PMID:26344197   PMID:26373709   PMID:26473472   PMID:26492336   PMID:26496610   PMID:26508024   PMID:26565811   PMID:26597461  
PMID:26679051   PMID:26742467   PMID:26755705   PMID:26781335   PMID:26878112   PMID:26959741   PMID:27216862   PMID:27221712   PMID:27364975   PMID:27432908   PMID:27572445   PMID:27585521  
PMID:27644671   PMID:27742835   PMID:27814644   PMID:27880917   PMID:27959415   PMID:28065597   PMID:28182003   PMID:28183800   PMID:28187032   PMID:28210822   PMID:28250424   PMID:28295507  
PMID:28330616   PMID:28369102   PMID:28376405   PMID:28378014   PMID:28416389   PMID:28465325   PMID:28480959   PMID:28514442   PMID:28533521   PMID:28606940   PMID:28675297   PMID:28692056  
PMID:28790195   PMID:28978467   PMID:29058147   PMID:29288235   PMID:29298416   PMID:29449322   PMID:29466992   PMID:29715200   PMID:29776962   PMID:29931651   PMID:29961065   PMID:30112836  
PMID:30420593   PMID:30470842   PMID:30496760   PMID:30674631   PMID:30764849   PMID:30816454   PMID:31000475   PMID:31427082   PMID:31550807   PMID:31836852   PMID:31942069   PMID:31980649  
PMID:32004441   PMID:32343611   PMID:32390601   PMID:32393512   PMID:32437509   PMID:32454905   PMID:32513696   PMID:32674045   PMID:32779804   PMID:32917126   PMID:33133093   PMID:33264612  
PMID:33615510   PMID:33639070   PMID:33736531   PMID:33961781   PMID:33990399   PMID:34088320   PMID:34187934   PMID:34362877   PMID:34535085   PMID:34910686   PMID:35307366  


Genomics

Comparative Map Data
PTPN6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38126,946,577 - 6,961,316 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl126,946,468 - 6,961,316 (+)EnsemblGRCh38hg38GRCh38
GRCh37127,055,740 - 7,070,479 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36126,926,001 - 6,940,740 (+)NCBINCBI36hg18NCBI36
Build 34126,930,762 - 6,940,740NCBI
Celera128,674,361 - 8,691,497 (+)NCBI
Cytogenetic Map12p13.31NCBI
HuRef126,911,844 - 6,928,943 (+)NCBIHuRef
CHM1_1127,054,727 - 7,069,431 (+)NCBICHM1_1
T2T-CHM13v2.0126,957,743 - 6,974,790 (+)NCBI
Ptpn6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396124,697,670 - 124,715,672 (-)NCBIGRCm39mm39
GRCm39 Ensembl6124,697,670 - 124,715,677 (-)Ensembl
GRCm386124,720,707 - 124,738,709 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6124,720,707 - 124,738,714 (-)EnsemblGRCm38mm10GRCm38
MGSCv376124,670,736 - 124,688,727 (-)NCBIGRCm37mm9NCBIm37
MGSCv366124,686,336 - 124,698,725 (-)NCBImm8
Celera6126,402,447 - 126,420,442 (-)NCBICelera
Cytogenetic Map6F2NCBI
cM Map659.17NCBI
Ptpn6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.24157,526,034 - 157,550,783 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl4157,526,035 - 157,550,984 (-)Ensembl
Rnor_6.04157,239,141 - 157,263,890 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4157,239,142 - 157,263,890 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04224,256,737 - 224,281,486 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44160,843,699 - 160,868,856 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.14161,088,634 - 161,113,792 (-)NCBI
Celera4146,264,696 - 146,289,049 (-)NCBICelera
Cytogenetic Map4q42NCBI
Ptpn6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554134,525,954 - 4,547,177 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554134,525,954 - 4,547,177 (+)NCBIChiLan1.0ChiLan1.0
PTPN6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1126,991,099 - 7,008,830 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl126,991,099 - 7,008,830 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0127,075,879 - 7,093,041 (+)NCBIMhudiblu_PPA_v0panPan3
PTPN6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12738,084,976 - 38,101,552 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2738,084,980 - 38,101,937 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha278,519,708 - 8,531,714 (+)NCBI
ROS_Cfam_1.02738,437,567 - 38,449,584 (-)NCBI
ROS_Cfam_1.0 Ensembl2738,437,569 - 38,453,615 (-)Ensembl
UMICH_Zoey_3.12738,312,457 - 38,324,047 (-)NCBI
UNSW_CanFamBas_1.02738,353,429 - 38,365,020 (-)NCBI
UU_Cfam_GSD_1.0277,998,465 - 8,010,486 (+)NCBI
Ptpn6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945102,196,659 - 102,217,158 (-)NCBI
SpeTri2.0NW_004936709864,206 - 884,630 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PTPN6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl563,762,112 - 63,808,350 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1563,762,109 - 63,779,086 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2566,198,250 - 66,215,843 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PTPN6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1116,977,480 - 6,994,525 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl116,984,710 - 6,994,545 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660631,223,213 - 1,240,430 (-)NCBIVero_WHO_p1.0
Ptpn6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248603,580,560 - 3,595,090 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046248603,580,225 - 3,595,403 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH46958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,070,060 - 7,070,422UniSTSGRCh37
Build 36126,940,321 - 6,940,683RGDNCBI36
Celera128,691,078 - 8,691,440RGD
Cytogenetic Map12p13UniSTS
HuRef126,928,524 - 6,928,886UniSTS
GeneMap99-GB4 RH Map1245.71UniSTS
RH79905  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,070,072 - 7,070,480UniSTSGRCh37
Build 36126,940,333 - 6,940,741RGDNCBI36
Celera128,691,090 - 8,691,498RGD
Cytogenetic Map12p13UniSTS
HuRef126,928,536 - 6,928,944UniSTS
SHGC-31976  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,055,019 - 7,055,162UniSTSGRCh37
Build 36126,925,280 - 6,925,423RGDNCBI36
Celera128,673,640 - 8,673,783RGD
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map12p13UniSTS
HuRef126,911,123 - 6,911,266UniSTS
Stanford-G3 RH Map12441.0UniSTS
NCBI RH Map12127.8UniSTS
GeneMap99-G3 RH Map12441.0UniSTS
RH80060  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,070,044 - 7,070,456UniSTSGRCh37
Celera128,691,062 - 8,691,474UniSTS
Cytogenetic Map12p13UniSTS
HuRef126,928,508 - 6,928,920UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:8572
Count of miRNA genes:1060
Interacting mature miRNAs:1344
Transcripts:ENST00000318974, ENST00000399448, ENST00000416215, ENST00000447931, ENST00000456013, ENST00000534900, ENST00000535462, ENST00000536013, ENST00000536521, ENST00000537533, ENST00000538318, ENST00000538715, ENST00000539029, ENST00000539365, ENST00000540740, ENST00000541698, ENST00000542277, ENST00000542462, ENST00000542761, ENST00000542848, ENST00000543115, ENST00000543120, ENST00000543744, ENST00000545153
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 1230 1235 1534 455 1887 303 2524 202 862 300 687 1515 164 987 1190 2
Low 1197 1752 181 165 59 158 1743 1941 2777 115 755 68 11 1 217 1574 3 2
Below cutoff 11 4 10 4 5 4 76 47 89 2 17 24 24

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_002831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_080548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_080549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB019535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB079851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF178946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG754792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM006699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM742181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR986427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA431502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA868001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC297194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI573994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI573996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M74903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M77273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U47924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000318974   ⟹   ENSP00000326010
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,951,356 - 6,961,316 (+)Ensembl
RefSeq Acc Id: ENST00000399448   ⟹   ENSP00000382376
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,946,577 - 6,961,316 (+)Ensembl
RefSeq Acc Id: ENST00000416215
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,951,356 - 6,961,316 (+)Ensembl
RefSeq Acc Id: ENST00000456013   ⟹   ENSP00000391592
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,951,271 - 6,961,316 (+)Ensembl
RefSeq Acc Id: ENST00000534900
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,946,610 - 6,955,173 (+)Ensembl
RefSeq Acc Id: ENST00000535462   ⟹   ENSP00000441044
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,951,373 - 6,954,915 (+)Ensembl
RefSeq Acc Id: ENST00000536013   ⟹   ENSP00000446345
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,951,437 - 6,955,394 (+)Ensembl
RefSeq Acc Id: ENST00000536521
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,951,373 - 6,952,224 (+)Ensembl
RefSeq Acc Id: ENST00000537533
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,959,576 - 6,961,316 (+)Ensembl
RefSeq Acc Id: ENST00000538318
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,946,710 - 6,955,267 (+)Ensembl
RefSeq Acc Id: ENST00000538715   ⟹   ENSP00000438740
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,951,262 - 6,954,973 (+)Ensembl
RefSeq Acc Id: ENST00000539029
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,959,322 - 6,961,316 (+)Ensembl
RefSeq Acc Id: ENST00000539365
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,951,441 - 6,955,485 (+)Ensembl
RefSeq Acc Id: ENST00000540740
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,951,356 - 6,954,847 (+)Ensembl
RefSeq Acc Id: ENST00000541698   ⟹   ENSP00000445646
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,951,373 - 6,955,186 (+)Ensembl
RefSeq Acc Id: ENST00000542277
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,951,435 - 6,953,601 (+)Ensembl
RefSeq Acc Id: ENST00000542462   ⟹   ENSP00000440114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,951,375 - 6,955,189 (+)Ensembl
RefSeq Acc Id: ENST00000542761
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,959,413 - 6,960,404 (+)Ensembl
RefSeq Acc Id: ENST00000542848   ⟹   ENSP00000444805
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,946,574 - 6,955,262 (+)Ensembl
RefSeq Acc Id: ENST00000543115   ⟹   ENSP00000443393
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,946,468 - 6,952,180 (+)Ensembl
RefSeq Acc Id: ENST00000543120
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,946,577 - 6,954,939 (+)Ensembl
RefSeq Acc Id: ENST00000543744
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,951,285 - 6,953,415 (+)Ensembl
RefSeq Acc Id: ENST00000545153   ⟹   ENSP00000476175
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,951,372 - 6,955,485 (+)Ensembl
RefSeq Acc Id: NM_002831   ⟹   NP_002822
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,951,356 - 6,961,316 (+)NCBI
GRCh37127,055,740 - 7,070,479 (+)ENTREZGENE
Build 36126,930,704 - 6,940,740 (+)NCBI Archive
HuRef126,911,844 - 6,928,943 (+)ENTREZGENE
CHM1_1127,059,386 - 7,069,431 (+)NCBI
T2T-CHM13v2.0126,964,830 - 6,974,790 (+)NCBI
Sequence:
RefSeq Acc Id: NM_080548   ⟹   NP_536858
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,946,577 - 6,961,316 (+)NCBI
GRCh37127,055,740 - 7,070,479 (+)NCBI
Build 36126,926,001 - 6,940,740 (+)NCBI Archive
HuRef126,911,844 - 6,928,943 (+)ENTREZGENE
CHM1_1127,054,727 - 7,069,431 (+)NCBI
T2T-CHM13v2.0126,957,743 - 6,974,790 (+)NCBI
Sequence:
RefSeq Acc Id: NM_080549   ⟹   NP_536859
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,951,356 - 6,961,316 (+)NCBI
GRCh37127,055,740 - 7,070,479 (+)ENTREZGENE
HuRef126,911,844 - 6,928,943 (+)ENTREZGENE
CHM1_1127,059,386 - 7,069,431 (+)NCBI
T2T-CHM13v2.0126,964,830 - 6,974,790 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011520988   ⟹   XP_011519290
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,946,577 - 6,961,316 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449106   ⟹   XP_024304874
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,951,356 - 6,961,316 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047429231   ⟹   XP_047285187
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,946,577 - 6,961,316 (+)NCBI
RefSeq Acc Id: XM_047429232   ⟹   XP_047285188
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,951,356 - 6,961,316 (+)NCBI
Protein Sequences
Protein RefSeqs NP_002822 (Get FASTA)   NCBI Sequence Viewer  
  NP_536858 (Get FASTA)   NCBI Sequence Viewer  
  NP_536859 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519290 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304874 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285187 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285188 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35963 (Get FASTA)   NCBI Sequence Viewer  
  AAA36610 (Get FASTA)   NCBI Sequence Viewer  
  AAA82879 (Get FASTA)   NCBI Sequence Viewer  
  AAB51322 (Get FASTA)   NCBI Sequence Viewer  
  AAB51323 (Get FASTA)   NCBI Sequence Viewer  
  AAD53317 (Get FASTA)   NCBI Sequence Viewer  
  AAH02523 (Get FASTA)   NCBI Sequence Viewer  
  AAH07667 (Get FASTA)   NCBI Sequence Viewer  
  AAP36054 (Get FASTA)   NCBI Sequence Viewer  
  BAC81774 (Get FASTA)   NCBI Sequence Viewer  
  BAC81775 (Get FASTA)   NCBI Sequence Viewer  
  BAD97349 (Get FASTA)   NCBI Sequence Viewer  
  BAF83110 (Get FASTA)   NCBI Sequence Viewer  
  BAG36177 (Get FASTA)   NCBI Sequence Viewer  
  BAG60682 (Get FASTA)   NCBI Sequence Viewer  
  BAG61949 (Get FASTA)   NCBI Sequence Viewer  
  CBX47486 (Get FASTA)   NCBI Sequence Viewer  
  CBX47487 (Get FASTA)   NCBI Sequence Viewer  
  EAW88700 (Get FASTA)   NCBI Sequence Viewer  
  EAW88701 (Get FASTA)   NCBI Sequence Viewer  
  EAW88702 (Get FASTA)   NCBI Sequence Viewer  
  EAW88703 (Get FASTA)   NCBI Sequence Viewer  
  EAW88704 (Get FASTA)   NCBI Sequence Viewer  
  P29350 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_536858   ⟸   NM_080548
- Peptide Label: isoform 2
- UniProtKB: P29350 (UniProtKB/Swiss-Prot),   Q53XS4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_536859   ⟸   NM_080549
- Peptide Label: isoform 3
- UniProtKB: P29350 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002822   ⟸   NM_002831
- Peptide Label: isoform 1
- UniProtKB: P29350 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011519290   ⟸   XM_011520988
- Peptide Label: isoform X1
- UniProtKB: P29350 (UniProtKB/Swiss-Prot),   Q53XS4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024304874   ⟸   XM_024449106
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000445646   ⟸   ENST00000541698
RefSeq Acc Id: ENSP00000440114   ⟸   ENST00000542462
RefSeq Acc Id: ENSP00000444805   ⟸   ENST00000542848
RefSeq Acc Id: ENSP00000382376   ⟸   ENST00000399448
RefSeq Acc Id: ENSP00000443393   ⟸   ENST00000543115
RefSeq Acc Id: ENSP00000476175   ⟸   ENST00000545153
RefSeq Acc Id: ENSP00000391592   ⟸   ENST00000456013
RefSeq Acc Id: ENSP00000441044   ⟸   ENST00000535462
RefSeq Acc Id: ENSP00000446345   ⟸   ENST00000536013
RefSeq Acc Id: ENSP00000438740   ⟸   ENST00000538715
RefSeq Acc Id: ENSP00000326010   ⟸   ENST00000318974
RefSeq Acc Id: XP_047285187   ⟸   XM_047429231
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047285188   ⟸   XM_047429232
- Peptide Label: isoform X4
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P29350-F1-model_v2 AlphaFold P29350 1-595 view protein structure

Promoters
RGD ID:6790400
Promoter ID:HG_KWN:14873
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_080548
Position:
Human AssemblyChrPosition (strand)Source
Build 36126,925,001 - 6,926,112 (+)MPROMDB
RGD ID:6790397
Promoter ID:HG_KWN:14874
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_002831,   NM_080549
Position:
Human AssemblyChrPosition (strand)Source
Build 36126,930,359 - 6,930,859 (+)MPROMDB
RGD ID:6851724
Promoter ID:EP73666
Type:initiation region
Name:HS_PTPN6
Description:Protein tyrosine phosphatase, non-receptor type 6 , transcriptvariant 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36126,930,797 - 6,930,857EPD
RGD ID:7222989
Promoter ID:EPDNEW_H17240
Type:initiation region
Name:PTPN6_1
Description:protein tyrosine phosphatase, non-receptor type 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17241  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,946,577 - 6,946,637EPDNEW
RGD ID:7222991
Promoter ID:EPDNEW_H17241
Type:initiation region
Name:PTPN6_2
Description:protein tyrosine phosphatase, non-receptor type 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17240  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,951,356 - 6,951,416EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22
pathogenic
GRCh38/hg38 12p13.31(chr12:6728665-7705620)x1 copy number loss See cases [RCV000052779] Chr12:6728665..7705620 [GRCh38]
Chr12:6837831..7858216 [GRCh37]
Chr12:6708092..7749483 [NCBI36]
Chr12:12p13.31
pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1
pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121055-7272606)x3 copy number gain See cases [RCV000053663] Chr12:121055..7272606 [GRCh38]
Chr12:282465..7425202 [GRCh37]
Chr12:100482..7316469 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|See cases [RCV000053664] Chr12:121255..8361746 [GRCh38]
Chr12:282465..8514342 [GRCh37]
Chr12:100682..8405609 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
NM_080548.4(PTPN6):c.131C>T (p.Ser44Phe) single nucleotide variant Malignant melanoma [RCV000070187] Chr12:6951725 [GRCh38]
Chr12:7060888 [GRCh37]
Chr12:6931149 [NCBI36]
Chr12:12p13.31
not provided
NC_000012.11:g.(?_6945914)_(9027627_?)dup duplication Developmental and epileptic encephalopathy, 21 [RCV001325295]|Klippel-Feil syndrome 3, autosomal dominant [RCV001301079]|Temtamy syndrome [RCV000816630]|not provided [RCV001859243] Chr12:6945914..9027627 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 copy number gain See cases [RCV000137694] Chr12:2871741..14987348 [GRCh38]
Chr12:2980907..15140282 [GRCh37]
Chr12:2851168..15031549 [NCBI36]
Chr12:12p13.33-12.3
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.31(chr12:7069980-7094188)x3 copy number gain See cases [RCV000447567] Chr12:7069980..7094188 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8257049)x3 copy number gain See cases [RCV000446749] Chr12:173786..8257049 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1
likely pathogenic
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3 copy number gain See cases [RCV000510853] Chr12:173786..11677456 [GRCh37]
Chr12:12p13.33-13.2
pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3 copy number gain not provided [RCV000683477] Chr12:191242..8122785 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21
pathogenic
GRCh37/hg19 12p13.31(chr12:6911437-9381254)x3 copy number gain not provided [RCV000750277] Chr12:6911437..9381254 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_002831.6(PTPN6):c.1207-8C>T single nucleotide variant not provided [RCV000978373] Chr12:6957911 [GRCh38]
Chr12:7067074 [GRCh37]
Chr12:12p13.31
benign
NM_002831.6(PTPN6):c.1197G>A (p.Pro399=) single nucleotide variant not provided [RCV000959257] Chr12:6957776 [GRCh38]
Chr12:7066939 [GRCh37]
Chr12:12p13.31
benign
NM_002831.6(PTPN6):c.1582-10C>G single nucleotide variant not provided [RCV000881369] Chr12:6960334 [GRCh38]
Chr12:7069497 [GRCh37]
Chr12:12p13.31
benign
NC_000012.11:g.(?_6438458)_(7362839_?)dup duplication Peroxisome biogenesis disorder 2B [RCV001031288] Chr12:6438458..7362839 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_002831.6(PTPN6):c.9-6G>A single nucleotide variant not provided [RCV000768063] Chr12:6951603 [GRCh38]
Chr12:7060766 [GRCh37]
Chr12:12p13.31
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292) copy number gain not provided [RCV000767818] Chr12:237588..8278292 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) copy number gain not provided [RCV000767817] Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497) copy number gain not provided [RCV000767819] Chr12:189216..8185497 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NM_002831.6(PTPN6):c.1074+15dup duplication not provided [RCV000965231] Chr12:6956576..6956577 [GRCh38]
Chr12:7065739..7065740 [GRCh37]
Chr12:12p13.31
benign
NM_002831.6(PTPN6):c.1521C>T (p.Phe507=) single nucleotide variant not provided [RCV000965232] Chr12:6960179 [GRCh38]
Chr12:7069342 [GRCh37]
Chr12:12p13.31
benign
NM_002831.6(PTPN6):c.1674-110G>A single nucleotide variant not provided [RCV000899701] Chr12:6960696 [GRCh38]
Chr12:7069859 [GRCh37]
Chr12:12p13.31
benign
NC_000012.12:g.(1_3750000)_(5250000_9000000)del deletion Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758697] Chr12:3750000..5250000 [GRCh38]
Chr12:12p13.33-13.31
pathogenic
NC_000012.11:g.(?_6945914)_(9027627_?)dup duplication Temtamy syndrome [RCV000816630] Chr12:6945914..9027627 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3 copy number gain not provided [RCV000846343] Chr12:173786..8393815 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NM_002831.6(PTPN6):c.978= (p.Gly326=) variation not provided [RCV000949561] Chr12:6956472 [GRCh38]
Chr12:7065635 [GRCh37]
Chr12:12p13.31
benign
NM_002831.6(PTPN6):c.8+8C>A single nucleotide variant not provided [RCV000979256] Chr12:6951528 [GRCh38]
Chr12:7060691 [GRCh37]
Chr12:12p13.31
likely benign
NM_002831.6(PTPN6):c.1398C>T (p.Ile466=) single nucleotide variant not provided [RCV000899700] Chr12:6959963 [GRCh38]
Chr12:7069126 [GRCh37]
Chr12:12p13.31
benign
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
NM_002831.6(PTPN6):c.1083C>T (p.Cys361=) single nucleotide variant not provided [RCV000957666] Chr12:6957662 [GRCh38]
Chr12:7066825 [GRCh37]
Chr12:12p13.31
benign
NM_002831.6(PTPN6):c.126C>T (p.Ser42=) single nucleotide variant not provided [RCV000957046] Chr12:6951726 [GRCh38]
Chr12:7060889 [GRCh37]
Chr12:12p13.31
benign
GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3 copy number gain not provided [RCV001537906] Chr12:189145..7730395 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NC_000012.11:g.(?_6945914)_(8248706_?)dup duplication Temtamy syndrome [RCV001031096] Chr12:6945914..8248706 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_002831.5:c.845_854delTTGACCACAG deletion Neurodevelopmental abnormality [RCV001264692] Chr12:6956139..6956148 [GRCh38]
Chr12:7065302..7065311 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_002831.6(PTPN6):c.9-7C>T single nucleotide variant not provided [RCV001281047] Chr12:6951602 [GRCh38]
Chr12:7060765 [GRCh37]
Chr12:12p13.31
uncertain significance
NC_000012.11:g.(?_6438478)_(7362819_?)dup duplication Temtamy syndrome [RCV001365174] Chr12:6438478..7362819 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3 copy number gain Obesity [RCV001801197] Chr12:146240..8330229 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NC_000012.11:g.(?_6438478)_(8248686_?)dup duplication TNF receptor-associated periodic fever syndrome (TRAPS) [RCV001913768]|not provided [RCV001913769] Chr12:6438478..8248686 [GRCh37]
Chr12:12p13.31
uncertain significance
NC_000012.11:g.(?_6438478)_(8756953_?)dup duplication not provided [RCV001970781] Chr12:6438478..8756953 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.31(chr12:6530146-7376398) copy number gain not specified [RCV002052968] Chr12:6530146..7376398 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.31(chr12:6872634-7244086) copy number gain not specified [RCV002052969] Chr12:6872634..7244086 [GRCh37]
Chr12:12p13.31
uncertain significance
NC_000012.11:g.(?_6438478)_(9027607_?)dup duplication not provided [RCV001943267] Chr12:6438478..9027607 [GRCh37]
Chr12:12p13.31
uncertain significance
NC_000012.11:g.(?_6945914)_(7362819_?)dup duplication not provided [RCV001943326] Chr12:6945914..7362819 [GRCh37]
Chr12:12p13.31
uncertain significance
NC_000012.11:g.(?_6978008)_(9010204_?)dup duplication Peroxisome biogenesis disorder 2B [RCV001877402] Chr12:6978008..9010204 [GRCh37]
Chr12:12p13.31
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9658 AgrOrtholog
COSMIC PTPN6 COSMIC
Ensembl Genes ENSG00000111679 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000326010 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000382376 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000391592 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000438740 UniProtKB/TrEMBL
  ENSP00000440114 UniProtKB/TrEMBL
  ENSP00000441044 UniProtKB/TrEMBL
  ENSP00000443393 UniProtKB/TrEMBL
  ENSP00000444805 UniProtKB/TrEMBL
  ENSP00000445646 UniProtKB/TrEMBL
  ENSP00000446345 UniProtKB/TrEMBL
  ENSP00000476175 UniProtKB/TrEMBL
Ensembl Transcript ENST00000318974 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000399448 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000456013 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000535462 UniProtKB/TrEMBL
  ENST00000536013 UniProtKB/TrEMBL
  ENST00000538715 UniProtKB/TrEMBL
  ENST00000541698 UniProtKB/TrEMBL
  ENST00000542462 UniProtKB/TrEMBL
  ENST00000542848 UniProtKB/TrEMBL
  ENST00000543115 UniProtKB/TrEMBL
  ENST00000545153 UniProtKB/TrEMBL
Gene3D-CATH 3.30.505.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.190.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000111679 GTEx
HGNC ID HGNC:9658 ENTREZGENE
Human Proteome Map PTPN6 Human Proteome Map
InterPro Prot-tyrosine_phosphatase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTPase_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_Pase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_Pase_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_Pase_non-rcpt_typ-6/11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5777 UniProtKB/Swiss-Prot
NCBI Gene 5777 ENTREZGENE
OMIM 176883 OMIM
Pfam SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Y_phosphatase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34002 PharmGKB, RGD
PIRSF Tyr-Ptase_nr_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS PRTYPHPHTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_PTP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PTPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTPc_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52799 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55550 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt F5GXD4_HUMAN UniProtKB/TrEMBL
  F5GY79_HUMAN UniProtKB/TrEMBL
  F5H0N8_HUMAN UniProtKB/TrEMBL
  F5H1V7_HUMAN UniProtKB/TrEMBL
  F5H1Z8_HUMAN UniProtKB/TrEMBL
  F5H4Z1_HUMAN UniProtKB/TrEMBL
  F5H5H9_HUMAN UniProtKB/TrEMBL
  P29350 ENTREZGENE, UniProtKB/Swiss-Prot
  Q53XS4 ENTREZGENE, UniProtKB/TrEMBL
  U3KQS1_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K306 UniProtKB/Swiss-Prot
  G3V0F8 UniProtKB/Swiss-Prot
  Q969V8 UniProtKB/Swiss-Prot
  Q9UK67 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-19 PTPN6  protein tyrosine phosphatase non-receptor type 6    protein tyrosine phosphatase, non-receptor type 6  Symbol and/or name change 5135510 APPROVED
2011-08-16 PTPN6  protein tyrosine phosphatase, non-receptor type 6  PTPN6  protein tyrosine phosphatase, non-receptor type 6  Symbol and/or name change 5135510 APPROVED