PTPN2 (protein tyrosine phosphatase non-receptor type 2) - Rat Genome Database

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Gene: PTPN2 (protein tyrosine phosphatase non-receptor type 2) Homo sapiens
Analyze
Symbol: PTPN2
Name: protein tyrosine phosphatase non-receptor type 2
RGD ID: 733575
HGNC Page HGNC:9650
Description: Enables protein tyrosine phosphatase activity; signaling receptor binding activity; and syntaxin binding activity. Involved in negative regulation of cell population proliferation; negative regulation of signal transduction; and regulation of hepatocyte growth factor receptor signaling pathway. Located in several cellular components, including endoplasmic reticulum; endoplasmic reticulum-Golgi intermediate compartment; and nucleoplasm. Biomarker of pre-eclampsia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: PTN2; PTPT; T-cell protein tyrosine phosphatase; T-cell protein-tyrosine phosphatase; TC-PTP; TC45; TC48; TCELLPTP; TCPTP; tyrosine-protein phosphatase non-receptor type 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: PTPN2P1   PTPN2P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381812,785,478 - 12,884,237 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1812,785,478 - 12,929,643 (-)EnsemblGRCh38hg38GRCh38
GRCh371812,785,477 - 12,884,236 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361812,775,480 - 12,874,334 (-)NCBINCBI36Build 36hg18NCBI36
Build 341812,783,247 - 12,874,334NCBI
Celera1812,668,269 - 12,766,833 (-)NCBICelera
Cytogenetic Map18p11.21NCBI
HuRef1812,739,218 - 12,838,298 (-)NCBIHuRef
CHM1_11812,784,828 - 12,883,350 (-)NCBICHM1_1
T2T-CHM13v2.01812,948,473 - 13,046,916 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
B cell differentiation  (IEA,ISS)
erythrocyte differentiation  (IEA,ISS)
glucose homeostasis  (IEA,ISS)
insulin receptor recycling  (IEA)
insulin receptor signaling pathway  (IEA,ISO,ISS)
negative regulation of cell population proliferation  (IMP)
negative regulation of chemotaxis  (IEA,ISS)
negative regulation of epidermal growth factor receptor signaling pathway  (IMP)
negative regulation of ERK1 and ERK2 cascade  (IBA,IEA,ISS)
negative regulation of inflammatory response  (IEA,ISS)
negative regulation of insulin receptor signaling pathway  (IEA,ISS)
negative regulation of interleukin-2-mediated signaling pathway  (IEA,IMP)
negative regulation of interleukin-4-mediated signaling pathway  (IEA,IMP)
negative regulation of interleukin-6-mediated signaling pathway  (IEA,IMP)
negative regulation of lipid storage  (IEA,ISS)
negative regulation of macrophage colony-stimulating factor signaling pathway  (IEA,ISS)
negative regulation of macrophage differentiation  (IEA,ISS)
negative regulation of platelet-derived growth factor receptor-beta signaling pathway  (IEA,ISS)
negative regulation of positive thymic T cell selection  (IEA,ISS)
negative regulation of receptor signaling pathway via JAK-STAT  (IBA,IEA)
negative regulation of T cell receptor signaling pathway  (IEA,ISS)
negative regulation of transcription by RNA polymerase II  (IEA,ISO)
negative regulation of tumor necrosis factor-mediated signaling pathway  (IEA,ISS)
negative regulation of type I interferon-mediated signaling pathway  (IEA,IMP)
negative regulation of type II interferon-mediated signaling pathway  (IDA,IEA,IMP,ISS)
negative regulation of tyrosine phosphorylation of STAT protein  (IDA,IEA)
positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  (IEA)
positive regulation of gluconeogenesis  (IEA,ISS)
positive regulation of PERK-mediated unfolded protein response  (IEA)
regulation of hepatocyte growth factor receptor signaling pathway  (IMP)
regulation of type II interferon-mediated signaling pathway  (TAS)
T cell differentiation  (IEA,ISS)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Evaluation of MicroRNA-210 and Protein tyrosine phosphatase, non-receptor type 2 in Pre-eclampsia. Adel S, etal., Gene. 2017 Jan 5;596:105-109. doi: 10.1016/j.gene.2016.10.014. Epub 2016 Oct 13.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
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
5. JAK/STAT signal transduction: regulators and implication in hematological malignancies. Valentino L and Pierre J, Biochem Pharmacol. 2006 Mar 14;71(6):713-21. Epub 2006 Jan 19.
Additional References at PubMed
PMID:1731319   PMID:1849097   PMID:2164224   PMID:2546150   PMID:7593185   PMID:8125298   PMID:8325634   PMID:9261175   PMID:9488479   PMID:10488121   PMID:10940933   PMID:11514572  
PMID:11907034   PMID:11909529   PMID:12138178   PMID:12171910   PMID:12359225   PMID:12459463   PMID:12477932   PMID:12612081   PMID:12847239   PMID:12907755   PMID:14600148   PMID:14702039  
PMID:14966296   PMID:15030318   PMID:15192089   PMID:15489334   PMID:15509512   PMID:15539083   PMID:15588985   PMID:15592458   PMID:15632081   PMID:15696169   PMID:15778465   PMID:16293614  
PMID:16344560   PMID:16595549   PMID:17207965   PMID:17210636   PMID:17554260   PMID:17554261   PMID:17554300   PMID:18438405   PMID:18519826   PMID:18587394   PMID:18593762   PMID:18819921  
PMID:18840653   PMID:18936107   PMID:18948751   PMID:18978792   PMID:19073967   PMID:19171783   PMID:19174780   PMID:19240061   PMID:19264985   PMID:19273555   PMID:19336676   PMID:19422935  
PMID:19430480   PMID:19565500   PMID:19615732   PMID:19755676   PMID:19760754   PMID:19818778   PMID:19861958   PMID:19898481   PMID:19922411   PMID:19951419   PMID:20059965   PMID:20088380  
PMID:20190752   PMID:20203524   PMID:20222910   PMID:20379614   PMID:20403149   PMID:20473312   PMID:20689057   PMID:20886065   PMID:20940300   PMID:20962850   PMID:21072187   PMID:21102463  
PMID:21115548   PMID:21179116   PMID:21220691   PMID:21246196   PMID:21300955   PMID:21383967   PMID:21551237   PMID:21791476   PMID:21829393   PMID:21873635   PMID:21876762   PMID:21984578  
PMID:21987459   PMID:22021207   PMID:22080863   PMID:22105363   PMID:22233524   PMID:22294642   PMID:22377701   PMID:22404968   PMID:22426692   PMID:22446963   PMID:22457781   PMID:22645313  
PMID:22671594   PMID:22671596   PMID:22939629   PMID:22960018   PMID:22960999   PMID:23006999   PMID:23124138   PMID:23128233   PMID:23166300   PMID:23328081   PMID:23454379   PMID:23518806  
PMID:23579275   PMID:23824909   PMID:23840476   PMID:24022492   PMID:24040033   PMID:24127071   PMID:24390342   PMID:24453475   PMID:24480412   PMID:24608439   PMID:24901824   PMID:24936733  
PMID:25311528   PMID:25460303   PMID:25489960   PMID:25492475   PMID:26026268   PMID:26090670   PMID:26139109   PMID:26186194   PMID:26208487   PMID:26344020   PMID:26344197   PMID:26496610  
PMID:26638075   PMID:26734582   PMID:26817397   PMID:26892021   PMID:26928573   PMID:27114451   PMID:27342690   PMID:27432908   PMID:27880917   PMID:28107378   PMID:28145159   PMID:28190767  
PMID:28330616   PMID:28342869   PMID:28400551   PMID:28514442   PMID:28675297   PMID:28692057   PMID:28804910   PMID:29247561   PMID:29386185   PMID:29395067   PMID:29423382   PMID:29444435  
PMID:29456405   PMID:29502070   PMID:29764444   PMID:29955894   PMID:29965986   PMID:30021884   PMID:30246029   PMID:30266502   PMID:30401746   PMID:30515568   PMID:30729132   PMID:31025094  
PMID:31030572   PMID:31056421   PMID:31091453   PMID:31241223   PMID:31248982   PMID:31270080   PMID:31488827   PMID:31527250   PMID:31694235   PMID:31735335   PMID:31871319   PMID:32149426  
PMID:32286519   PMID:32373968   PMID:32393512   PMID:32416067   PMID:32652144   PMID:32687490   PMID:32788342   PMID:32877691   PMID:33001862   PMID:33122197   PMID:33193091   PMID:33411686  
PMID:33450156   PMID:33603165   PMID:33957083   PMID:33961781   PMID:34057016   PMID:34079125   PMID:34082682   PMID:34169549   PMID:34198814   PMID:34420044   PMID:34623320   PMID:34806245  
PMID:34910875   PMID:35013194   PMID:35013556   PMID:35044456   PMID:35091679   PMID:35154122   PMID:35196085   PMID:35256949   PMID:35271311   PMID:35680018   PMID:35831314   PMID:35944360  
PMID:36077422   PMID:36215168   PMID:36497105   PMID:36523164   PMID:36526897   PMID:36660824   PMID:37689310   PMID:37774976   PMID:38379221  


Genomics

Comparative Map Data
PTPN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381812,785,478 - 12,884,237 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1812,785,478 - 12,929,643 (-)EnsemblGRCh38hg38GRCh38
GRCh371812,785,477 - 12,884,236 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361812,775,480 - 12,874,334 (-)NCBINCBI36Build 36hg18NCBI36
Build 341812,783,247 - 12,874,334NCBI
Celera1812,668,269 - 12,766,833 (-)NCBICelera
Cytogenetic Map18p11.21NCBI
HuRef1812,739,218 - 12,838,298 (-)NCBIHuRef
CHM1_11812,784,828 - 12,883,350 (-)NCBICHM1_1
T2T-CHM13v2.01812,948,473 - 13,046,916 (-)NCBIT2T-CHM13v2.0
Ptpn2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391867,798,571 - 67,857,697 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1867,798,581 - 67,857,665 (-)EnsemblGRCm39 Ensembl
GRCm381867,665,501 - 67,724,632 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1867,665,511 - 67,724,595 (-)EnsemblGRCm38mm10GRCm38
MGSCv371867,825,155 - 67,884,275 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361867,790,882 - 67,849,946 (-)NCBIMGSCv36mm8
Celera1868,948,003 - 69,006,677 (-)NCBICelera
Cytogenetic Map18E1NCBI
cM Map1840.06NCBI
Ptpn2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81863,498,890 - 63,564,571 (-)NCBIGRCr8
mRatBN7.21861,229,012 - 61,294,662 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1861,229,014 - 61,294,627 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1863,299,451 - 63,364,988 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01863,998,201 - 64,063,739 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01861,848,043 - 61,912,763 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01863,415,298 - 63,489,240 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1863,415,306 - 63,488,027 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01862,600,260 - 62,671,979 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41864,205,920 - 64,271,288 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11864,279,120 - 64,344,489 (-)NCBI
Celera1859,335,151 - 59,399,819 (-)NCBICelera
Cytogenetic Map18q12.1NCBI
Ptpn2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955402771,410 - 846,671 (+)NCBIChiLan1.0ChiLan1.0
PTPN2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21725,155,279 - 25,258,603 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11810,852,927 - 10,951,197 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0181,440,837 - 1,538,501 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11816,562,044 - 16,659,570 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1816,562,052 - 16,659,570 (+)Ensemblpanpan1.1panPan2
PTPN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1778,160,564 - 78,252,382 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl778,160,589 - 78,252,719 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha777,562,118 - 77,655,864 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0778,220,871 - 78,314,864 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl778,220,584 - 78,314,821 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1777,933,571 - 78,027,396 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0777,964,844 - 78,058,636 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0778,251,568 - 78,345,463 (-)NCBIUU_Cfam_GSD_1.0
Ptpn2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049443,161,688 - 3,243,980 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366262,389,868 - 2,445,927 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366262,390,004 - 2,472,039 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PTPN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl696,770,253 - 96,847,125 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1696,769,862 - 96,847,136 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2690,126,609 - 90,272,224 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PTPN2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11871,302,082 - 71,400,201 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1871,310,577 - 71,345,960 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605046,339,255 - 46,438,250 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ptpn2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477019,808,400 - 19,876,503 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477019,808,400 - 19,877,494 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PTPN2
39 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1 copy number loss See cases [RCV000051027] Chr18:148963..13715860 [GRCh38]
Chr18:148963..13715859 [GRCh37]
Chr18:138963..13705859 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051153]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051153]|See cases [RCV000051153] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1 copy number loss See cases [RCV000051154] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3 copy number gain See cases [RCV000052535] Chr18:1919684..15325188 [GRCh38]
Chr18:1919685..15325187 [GRCh37]
Chr18:1909685..15315187 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.31-11.21(chr18:3389362-14082029)x3 copy number gain See cases [RCV000052536] Chr18:3389362..14082029 [GRCh38]
Chr18:3389360..14082028 [GRCh37]
Chr18:3379360..14072028 [NCBI36]
Chr18:18p11.31-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3 copy number gain See cases [RCV000052499] Chr18:10001..15380684 [GRCh38]
Chr18:10001..15380683 [GRCh37]
Chr18:1..15370683 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3 copy number gain See cases [RCV000052504] Chr18:53345..20948503 [GRCh38]
Chr18:53345..18528464 [GRCh37]
Chr18:43345..16782462 [NCBI36]
Chr18:18p11.32-q11.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3 copy number gain See cases [RCV000052513] Chr18:148963..21040153 [GRCh38]
Chr18:148963..18620114 [GRCh37]
Chr18:138963..16874112 [NCBI36]
Chr18:18p11.32-q11.1		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1 copy number loss See cases [RCV000053461] Chr18:131700..14226905 [GRCh38]
Chr18:131700..14226904 [GRCh37]
Chr18:121700..14216904 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1 copy number loss See cases [RCV000053457] Chr18:112259..14122522 [GRCh38]
Chr18:112259..14122521 [GRCh37]
Chr18:102259..14112521 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1 copy number loss See cases [RCV000053458] Chr18:131700..15121055 [GRCh38]
Chr18:131700..15121054 [GRCh37]
Chr18:121700..15111054 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1 copy number loss See cases [RCV000053784] Chr18:148963..13530126 [GRCh38]
Chr18:148963..13530125 [GRCh37]
Chr18:138963..13520125 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1 copy number loss See cases [RCV000053787] Chr18:148963..13068104 [GRCh38]
Chr18:148963..13068103 [GRCh37]
Chr18:138963..13058103 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
PTPN2:c.1142+61C>T single nucleotide variant Malignant melanoma [RCV000063334] Chr18:12794323 [GRCh38]
Chr18:12794322 [GRCh37]
Chr18:12784322 [NCBI36]
Chr18:18p11.21		 not provided
NM_080422.2(PTPN2):c.408T>C (p.Phe136=) single nucleotide variant Malignant melanoma [RCV000063335] Chr18:12825897 [GRCh38]
Chr18:12825896 [GRCh37]
Chr18:12815896 [NCBI36]
Chr18:18p11.21		 not provided
GRCh37/hg19 18p11.32-11.1(chr18:1-15400035) copy number loss Deletion of short arm of chromosome 18 [RCV003159575] Chr18:1..15400035 [GRCh37]
Chr18:18p11.32-11.1		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x3 copy number gain See cases [RCV000051153] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4 copy number gain See cases [RCV000135515] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.22-11.21(chr18:10077657-14081888)x3 copy number gain See cases [RCV000136610] Chr18:10077657..14081888 [GRCh38]
Chr18:10077654..14081887 [GRCh37]
Chr18:10067654..14071887 [NCBI36]
Chr18:18p11.22-11.21		 pathogenic
GRCh38/hg38 18p11.23-11.21(chr18:7290175-13049470)x1 copy number loss See cases [RCV000137503] Chr18:7290175..13049470 [GRCh38]
Chr18:7290173..13049469 [GRCh37]
Chr18:7280173..13039469 [NCBI36]
Chr18:18p11.23-11.21		 likely pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4 copy number gain See cases [RCV000137456] Chr18:118760..14089410 [GRCh38]
Chr18:118760..14089409 [GRCh37]
Chr18:108760..14079409 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1 copy number loss See cases [RCV000137457] Chr18:118760..14089410 [GRCh38]
Chr18:118760..14089409 [GRCh37]
Chr18:108760..14079409 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1 copy number loss See cases [RCV000138101] Chr18:133157..14089410 [GRCh38]
Chr18:133157..14089409 [GRCh37]
Chr18:123157..14079409 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006) copy number gain See cases [RCV000140442] Chr18:136226..15175006 [GRCh38]
Chr18:136226..15175005 [GRCh37]
Chr18:126226..15165005 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3 copy number gain See cases [RCV000141427] Chr18:14316..14206225 [GRCh38]
Chr18:14316..14206224 [GRCh37]
Chr18:4316..14196224 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1 copy number loss See cases [RCV000141086] Chr18:118760..15024003 [GRCh38]
Chr18:118760..15024002 [GRCh37]
Chr18:108760..15014002 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1 copy number loss See cases [RCV000141627] Chr18:48782..14978076 [GRCh38]
Chr18:48782..14978075 [GRCh37]
Chr18:38782..14968075 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3 copy number gain See cases [RCV000143075] Chr18:8779843..24685379 [GRCh38]
Chr18:8779841..22265343 [GRCh37]
Chr18:8769841..20519341 [NCBI36]
Chr18:18p11.22-q11.2		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4 copy number gain See cases [RCV000143434] Chr18:136226..15198991 [GRCh38]
Chr18:136226..15198990 [GRCh37]
Chr18:126226..15188990 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3 copy number gain See cases [RCV000143477] Chr18:136226..14337134 [GRCh38]
Chr18:136226..14337133 [GRCh37]
Chr18:126226..14327133 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1 copy number loss See cases [RCV000148129] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4 copy number gain See cases [RCV000449034] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:163323-14103971)x1 copy number loss See cases [RCV000239938] Chr18:163323..14103971 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:163323-15102598)x4 copy number gain See cases [RCV000240029] Chr18:163323..15102598 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:14316-15328499)x1 copy number loss See cases [RCV000240281] Chr18:14316..15328499 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:13034-15375878)x1 copy number loss See cases [RCV000599143] Chr18:13034..15375878 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.21-q11.2(chr18:12254327-23262749)x3 copy number gain See cases [RCV000447320] Chr18:12254327..23262749 [GRCh37]
Chr18:18p11.21-q11.2		 pathogenic
GRCh37/hg19 18p11.31-11.21(chr18:4465872-15198990)x3 copy number gain See cases [RCV000447359] Chr18:4465872..15198990 [GRCh37]
Chr18:18p11.31-11.21		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4 copy number gain See cases [RCV000445796] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)x1 copy number loss See cases [RCV000449008] Chr18:136226..14983938 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.21(chr18:12691414-12794330)x3 copy number gain See cases [RCV000448823] Chr18:12691414..12794330 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18534784)x4 copy number gain See cases [RCV000447836] Chr18:136226..18534784 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3 copy number gain See cases [RCV000512118] Chr18:136226..21657790 [GRCh37]
Chr18:18p11.32-q11.2		 pathogenic
GRCh37/hg19 18p11.22-11.21(chr18:9671667-14854484)x1 copy number loss See cases [RCV000510514] Chr18:9671667..14854484 [GRCh37]
Chr18:18p11.22-11.21		 uncertain significance
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3 copy number gain See cases [RCV000511857] Chr18:136227..46171053 [GRCh37]
Chr18:18p11.32-q21.1		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x3 copy number gain See cases [RCV000511520] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic|uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x1 copy number loss See cases [RCV000511826] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18521285)x4 copy number gain See cases [RCV000511949] Chr18:136226..18521285 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_002828.4(PTPN2):c.697C>A (p.Leu233Ile) single nucleotide variant Inborn genetic diseases [RCV003264543] Chr18:12817164 [GRCh38]
Chr18:12817163 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:13034-15026309)x1 copy number loss See cases [RCV000515578] Chr18:13034..15026309 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:1-15157836)x1 copy number loss See cases [RCV000512162] Chr18:1..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x1 copy number loss See cases [RCV000512537] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:958974-15181666)x3 copy number gain not provided [RCV000684051] Chr18:958974..15181666 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4 copy number gain not provided [RCV000684052] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198989)x1 copy number loss not provided [RCV000684053] Chr18:136226..15198989 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4 copy number gain not provided [RCV000684054] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:124335-14139006)x1 copy number loss not provided [RCV000752249] Chr18:124335..14139006 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.21(chr18:12663152-12822702)x4 copy number gain not provided [RCV000752285] Chr18:12663152..12822702 [GRCh37]
Chr18:18p11.21		 benign
NM_002828.4(PTPN2):c.279A>G (p.Thr93=) single nucleotide variant not provided [RCV000919474] Chr18:12831024 [GRCh38]
Chr18:12831023 [GRCh37]
Chr18:18p11.21		 likely benign
GRCh37/hg19 18p11.32-11.21(chr18:13034-15330525)x1 copy number loss See cases [RCV001007421] Chr18:13034..15330525 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_002828.4(PTPN2):c.700G>A (p.Val234Ile) single nucleotide variant not provided [RCV000883504] Chr18:12817161 [GRCh38]
Chr18:12817160 [GRCh37]
Chr18:18p11.21		 benign
NM_002828.4(PTPN2):c.512C>A (p.Thr171Lys) single nucleotide variant not provided [RCV000955616] Chr18:12817349 [GRCh38]
Chr18:12817348 [GRCh37]
Chr18:18p11.21		 benign
GRCh37/hg19 18p11.32-11.21(chr18:136226-13894429)x1 copy number loss not provided [RCV001006947] Chr18:136226..13894429 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136304-15143714)x1 copy number loss not provided [RCV001006952] Chr18:136304..15143714 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18529578)x1 copy number loss not provided [RCV001006954] Chr18:136226..18529578 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
GRCh37/hg19 18p11.21(chr18:12842191-13532690)x3 copy number gain not provided [RCV001258692] Chr18:12842191..13532690 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.23-11.1(chr18:7598173-15422644)x1 copy number loss not provided [RCV001258695] Chr18:7598173..15422644 [GRCh37]
Chr18:18p11.23-11.1		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
Single allele deletion Deletion of short arm of chromosome 18 [RCV001391667] Chr18:2656075..13885536 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1 copy number loss See cases [RCV002285056] Chr18:136226..14632436 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1 copy number loss Deletion of short arm of chromosome 18 [RCV001801193] Chr18:10501..15410398 [GRCh37]
Chr18:18p11.32-11.1		 pathogenic
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990) copy number loss not specified [RCV002052614] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3 copy number gain not provided [RCV001832915] Chr18:136226..25252276 [GRCh37]
Chr18:18p11.32-q12.1		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-13655146) copy number loss not specified [RCV002052610] Chr18:136226..13655146 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938) copy number loss not specified [RCV002052612] Chr18:136226..14983938 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14384326) copy number gain not specified [RCV002052611] Chr18:136226..14384326 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990) copy number gain not specified [RCV002052613] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3 copy number gain not provided [RCV002276058] Chr18:47390..14854037 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.21(chr18:11290617-15106305)x3 copy number gain not provided [RCV002472558] Chr18:11290617..15106305 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_002828.4(PTPN2):c.59C>T (p.Pro20Leu) single nucleotide variant Inborn genetic diseases [RCV002864019] Chr18:12884083 [GRCh38]
Chr18:12884082 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_002828.4(PTPN2):c.819A>G (p.Ile273Met) single nucleotide variant Inborn genetic diseases [RCV002869572] Chr18:12814242 [GRCh38]
Chr18:12814241 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_002828.4(PTPN2):c.472C>G (p.Leu158Val) single nucleotide variant Inborn genetic diseases [RCV002763146] Chr18:12825833 [GRCh38]
Chr18:12825832 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_002828.4(PTPN2):c.396A>T (p.Gln132His) single nucleotide variant Inborn genetic diseases [RCV002921681] Chr18:12825909 [GRCh38]
Chr18:12825908 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_002828.4(PTPN2):c.317C>G (p.Thr106Ser) single nucleotide variant Inborn genetic diseases [RCV002920958] Chr18:12830986 [GRCh38]
Chr18:12830985 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_002828.4(PTPN2):c.712A>G (p.Lys238Glu) single nucleotide variant Inborn genetic diseases [RCV002655227] Chr18:12814349 [GRCh38]
Chr18:12814348 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_002828.4(PTPN2):c.403C>A (p.Leu135Met) single nucleotide variant Inborn genetic diseases [RCV003208202] Chr18:12825902 [GRCh38]
Chr18:12825901 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_002828.4(PTPN2):c.80A>G (p.Asn27Ser) single nucleotide variant Inborn genetic diseases [RCV003215755] Chr18:12859244 [GRCh38]
Chr18:12859243 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1 copy number loss Deletion of short arm of chromosome 18 [RCV003327630] Chr18:158286..14124574 [GRCh38]
Chr18:18p11.32-11.21		 pathogenic
NM_002828.4(PTPN2):c.1012C>A (p.Gln338Lys) single nucleotide variant Inborn genetic diseases [RCV003352244] Chr18:12801998 [GRCh38]
Chr18:12801997 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1 copy number loss not provided [RCV003483328] Chr18:136227..14585159 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4 copy number gain not provided [RCV003485366] Chr18:136227..18521285 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
NM_002828.4(PTPN2):c.1032C>T (p.Asn344=) single nucleotide variant not provided [RCV003413419] Chr18:12801978 [GRCh38]
Chr18:12801977 [GRCh37]
Chr18:18p11.21		 likely benign
GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3 copy number gain not specified [RCV003986102] Chr18:136227..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1 copy number loss not specified [RCV003987287] Chr18:136226..15161581 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3 copy number gain not specified [RCV003987271] Chr18:2922899..15198990 [GRCh37]
Chr18:18p11.31-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3 copy number gain not specified [RCV003987266] Chr18:136226..14148354 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.21(chr18:11200889-12792186)x3 copy number gain not specified [RCV003987267] Chr18:11200889..12792186 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3 copy number gain not specified [RCV003987269] Chr18:136226..14455323 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1 copy number loss not specified [RCV003987292] Chr18:136226..14352648 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_002828.4(PTPN2):c.722A>G (p.Asp241Gly) single nucleotide variant Inborn genetic diseases [RCV003276455] Chr18:12814339 [GRCh38]
Chr18:12814338 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15175005)x1 copy number loss not provided [RCV001006953] Chr18:136226..15175005 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3241
Count of miRNA genes:971
Interacting mature miRNAs:1144
Transcripts:ENST00000309660, ENST00000327283, ENST00000353319, ENST00000585666, ENST00000587497, ENST00000587703, ENST00000589086, ENST00000589216, ENST00000589444, ENST00000591115, ENST00000591305, ENST00000591497, ENST00000591901, ENST00000592059, ENST00000592776
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
SGC31554  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371812,794,073 - 12,794,272UniSTSGRCh37
Build 361812,784,073 - 12,784,272RGDNCBI36
Celera1812,676,865 - 12,677,064RGD
Cytogenetic Map18p11.3-p11.2UniSTS
HuRef1812,747,818 - 12,748,017UniSTS
GeneMap99-GB4 RH Map1890.71UniSTS
Whitehead-RH Map1882.4UniSTS
STS-N53696  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371812,788,666 - 12,788,786UniSTSGRCh37
Build 361812,778,666 - 12,778,786RGDNCBI36
Celera1812,671,458 - 12,671,578RGD
Cytogenetic Map18p11.3-p11.2UniSTS
HuRef1812,742,413 - 12,742,533UniSTS
GeneMap99-GB4 RH Map1889.91UniSTS
NCBI RH Map18162.4UniSTS
RH12560  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371812,785,627 - 12,785,781UniSTSGRCh37
Build 361812,775,627 - 12,775,781RGDNCBI36
Celera1812,668,416 - 12,668,570UniSTS
Celera1312,198,326 - 12,198,480RGD
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map13q12.3UniSTS
HuRef1812,739,368 - 12,739,522UniSTS
HuRef1311,946,633 - 11,946,787UniSTS
RH65175  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371812,788,578 - 12,788,730UniSTSGRCh37
Build 361812,778,578 - 12,778,730RGDNCBI36
Celera1812,671,370 - 12,671,522RGD
Cytogenetic Map18p11.3-p11.2UniSTS
HuRef1812,742,325 - 12,742,477UniSTS
GDB:196599  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371812,793,878 - 12,794,294UniSTSGRCh37
Build 361812,783,878 - 12,784,294RGDNCBI36
Celera1812,676,670 - 12,677,086RGD
Cytogenetic Map18p11.3-p11.2UniSTS
HuRef1812,747,623 - 12,748,039UniSTS
GDB:217060  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371812,825,654 - 12,826,233UniSTSGRCh37
Build 361812,815,654 - 12,816,233RGDNCBI36
Celera1812,708,452 - 12,709,031RGD
Cytogenetic Map18p11.3-p11.2UniSTS
HuRef1812,779,403 - 12,779,982UniSTS
STS-M78585  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371812,822,019 - 12,822,103UniSTSGRCh37
Build 361812,812,019 - 12,812,103RGDNCBI36
Celera1812,704,817 - 12,704,901RGD
Cytogenetic Map18p11.3-p11.2UniSTS
HuRef1812,775,768 - 12,775,852UniSTS
GeneMap99-GB4 RH Map18117.06UniSTS
sY3084  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map4q27UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map1p35.3-p33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q32.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map3q12.3UniSTS
ECD04345  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map19p13.3UniSTS
RH36905  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map3q27-q28UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map3q12.2-q12.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q12-q13.1UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map10q21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map10q24.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map10q25-q26UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map16q22.1UniSTS
D1S1425  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map2p23-p22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic Map2p11.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map3q11.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map15q11-q12UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map4q31.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map15q24-q25UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6q16UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic MapXq21.1UniSTS


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 575 950 1127 266 1307 145 2409 177 1379 180 1113 1560 135 1 839 1301 4 2
Low 1864 2034 599 358 643 320 1948 2014 2355 239 347 53 40 365 1487 2
Below cutoff 7 1 6

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001207013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_080422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_080423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005258124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005258125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP005482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW592324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG699440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ010946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB350067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF445017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M25393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M80737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M81478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X93568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000309660   ⟹   ENSP00000311857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,792,152 - 12,884,237 (-)Ensembl
RefSeq Acc Id: ENST00000327283   ⟹   ENSP00000320298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,785,478 - 12,884,338 (-)Ensembl
RefSeq Acc Id: ENST00000353319   ⟹   ENSP00000320546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,785,483 - 12,884,281 (-)Ensembl
RefSeq Acc Id: ENST00000585666   ⟹   ENSP00000464719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,785,506 - 12,814,305 (-)Ensembl
RefSeq Acc Id: ENST00000587497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,814,197 - 12,819,000 (-)Ensembl
RefSeq Acc Id: ENST00000587703   ⟹   ENSP00000467043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,785,685 - 12,836,824 (-)Ensembl
RefSeq Acc Id: ENST00000589086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,836,824 - 12,862,473 (-)Ensembl
RefSeq Acc Id: ENST00000589216   ⟹   ENSP00000468408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,817,181 - 12,884,198 (-)Ensembl
RefSeq Acc Id: ENST00000589444
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,785,478 - 12,787,741 (-)Ensembl
RefSeq Acc Id: ENST00000591115   ⟹   ENSP00000466936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,785,481 - 12,884,214 (-)Ensembl
RefSeq Acc Id: ENST00000591305   ⟹   ENSP00000468012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,801,989 - 12,884,222 (-)Ensembl
RefSeq Acc Id: ENST00000591497   ⟹   ENSP00000467823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,792,302 - 12,843,981 (-)Ensembl
RefSeq Acc Id: ENST00000591901   ⟹   ENSP00000464937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,785,481 - 12,802,153 (-)Ensembl
RefSeq Acc Id: ENST00000592059   ⟹   ENSP00000466206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,825,804 - 12,929,643 (-)Ensembl
RefSeq Acc Id: ENST00000592776   ⟹   ENSP00000468155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,814,325 - 12,884,277 (-)Ensembl
RefSeq Acc Id: ENST00000643397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,859,164 - 12,880,692 (-)Ensembl
RefSeq Acc Id: ENST00000643900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,836,791 - 12,839,557 (-)Ensembl
RefSeq Acc Id: ENST00000644814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,859,164 - 12,864,194 (-)Ensembl
RefSeq Acc Id: ENST00000645191   ⟹   ENSP00000493693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,794,112 - 12,883,766 (-)Ensembl
RefSeq Acc Id: ENST00000645816   ⟹   ENSP00000494336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,794,384 - 12,884,235 (-)Ensembl
RefSeq Acc Id: ENST00000646492   ⟹   ENSP00000496181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,793,835 - 12,883,827 (-)Ensembl
RefSeq Acc Id: NM_001207013   ⟹   NP_001193942
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381812,785,478 - 12,884,237 (-)NCBI
GRCh371812,785,477 - 12,884,337 (-)NCBI
HuRef1812,739,218 - 12,838,298 (-)ENTREZGENE
CHM1_11812,784,828 - 12,883,350 (-)NCBI
T2T-CHM13v2.01812,948,473 - 13,046,916 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001308287   ⟹   NP_001295216
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381812,792,302 - 12,840,962 (-)NCBI
CHM1_11812,791,651 - 12,840,288 (-)NCBI
T2T-CHM13v2.01812,955,304 - 13,003,975 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002828   ⟹   NP_002819
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381812,792,152 - 12,884,237 (-)NCBI
GRCh371812,785,477 - 12,884,337 (-)NCBI
Build 361812,783,247 - 12,874,334 (-)NCBI Archive
HuRef1812,739,218 - 12,838,298 (-)ENTREZGENE
CHM1_11812,791,651 - 12,883,350 (-)NCBI
T2T-CHM13v2.01812,955,151 - 13,046,916 (-)NCBI
Sequence:
RefSeq Acc Id: NM_080422   ⟹   NP_536347
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381812,785,478 - 12,884,237 (-)NCBI
GRCh371812,785,477 - 12,884,337 (-)NCBI
Build 361812,775,480 - 12,874,334 (-)NCBI Archive
HuRef1812,739,218 - 12,838,298 (-)ENTREZGENE
CHM1_11812,784,828 - 12,883,350 (-)NCBI
T2T-CHM13v2.01812,948,473 - 13,046,916 (-)NCBI
Sequence:
RefSeq Acc Id: NM_080423   ⟹   NP_536348
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381812,785,478 - 12,884,237 (-)NCBI
GRCh371812,785,477 - 12,884,337 (-)NCBI
Build 361812,775,482 - 12,874,334 (-)NCBI Archive
HuRef1812,739,218 - 12,838,298 (-)ENTREZGENE
CHM1_11812,784,828 - 12,883,350 (-)NCBI
T2T-CHM13v2.01812,948,473 - 13,046,916 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017025884   ⟹   XP_016881373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381812,785,478 - 12,884,237 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024451228   ⟹   XP_024306996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381812,785,478 - 12,884,237 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024451229   ⟹   XP_024306997
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381812,785,478 - 12,865,454 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047437695   ⟹   XP_047293651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381812,785,478 - 12,863,814 (-)NCBI
RefSeq Acc Id: XM_047437696   ⟹   XP_047293652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381812,785,478 - 12,863,550 (-)NCBI
RefSeq Acc Id: XM_047437697   ⟹   XP_047293653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381812,785,478 - 12,859,231 (-)NCBI
RefSeq Acc Id: XM_054318900   ⟹   XP_054174875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01812,948,473 - 13,026,530 (-)NCBI
RefSeq Acc Id: XM_054318901   ⟹   XP_054174876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01812,948,473 - 13,026,263 (-)NCBI
RefSeq Acc Id: XM_054318902   ⟹   XP_054174877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01812,948,473 - 13,028,167 (-)NCBI
RefSeq Acc Id: XM_054318903   ⟹   XP_054174878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01812,948,473 - 13,046,916 (-)NCBI
RefSeq Acc Id: XM_054318904   ⟹   XP_054174879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01812,948,473 - 13,021,941 (-)NCBI
RefSeq Acc Id: XM_054318905   ⟹   XP_054174880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01812,948,473 - 13,046,916 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001193942 (Get FASTA)   NCBI Sequence Viewer  
  NP_001295216 (Get FASTA)   NCBI Sequence Viewer  
  NP_002819 (Get FASTA)   NCBI Sequence Viewer  
  NP_536347 (Get FASTA)   NCBI Sequence Viewer  
  NP_536348 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881373 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306996 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306997 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293651 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293652 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293653 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174875 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174876 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174877 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174878 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174879 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174880 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA65997 (Get FASTA)   NCBI Sequence Viewer  
  AAH08244 (Get FASTA)   NCBI Sequence Viewer  
  AAH16727 (Get FASTA)   NCBI Sequence Viewer  
  ACA06062 (Get FASTA)   NCBI Sequence Viewer  
  ACA06063 (Get FASTA)   NCBI Sequence Viewer  
  ACA06064 (Get FASTA)   NCBI Sequence Viewer  
  BAD92806 (Get FASTA)   NCBI Sequence Viewer  
  BAF83338 (Get FASTA)   NCBI Sequence Viewer  
  BAF85259 (Get FASTA)   NCBI Sequence Viewer  
  EAX01532 (Get FASTA)   NCBI Sequence Viewer  
  EAX01533 (Get FASTA)   NCBI Sequence Viewer  
  EAX01534 (Get FASTA)   NCBI Sequence Viewer  
  EAX01535 (Get FASTA)   NCBI Sequence Viewer  
  EAX01536 (Get FASTA)   NCBI Sequence Viewer  
  EAX01537 (Get FASTA)   NCBI Sequence Viewer  
  EAX01538 (Get FASTA)   NCBI Sequence Viewer  
  EAX01539 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000311857
  ENSP00000311857.3
  ENSP00000320298
  ENSP00000320298.3
  ENSP00000320546
  ENSP00000320546.3
  ENSP00000464719.1
  ENSP00000464937.1
  ENSP00000466206.1
  ENSP00000466936
  ENSP00000466936.1
  ENSP00000467043.1
  ENSP00000467823
  ENSP00000467823.1
  ENSP00000468012.1
  ENSP00000468155.1
  ENSP00000468408.1
  ENSP00000493693.1
  ENSP00000494336.1
  ENSP00000496181.1
GenBank Protein P17706 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_536348   ⟸   NM_080423
- Peptide Label: isoform 3
- UniProtKB: P17706 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_536347   ⟸   NM_080422
- Peptide Label: isoform 2
- UniProtKB: A8K3N4 (UniProtKB/TrEMBL),   Q59F91 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001193942   ⟸   NM_001207013
- Peptide Label: isoform 4
- UniProtKB: P17706 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002819   ⟸   NM_002828
- Peptide Label: isoform 1
- UniProtKB: Q96AU5 (UniProtKB/Swiss-Prot),   K7ENG3 (UniProtKB/Swiss-Prot),   A8MXU3 (UniProtKB/Swiss-Prot),   A8K955 (UniProtKB/Swiss-Prot),   Q96HR2 (UniProtKB/Swiss-Prot),   P17706 (UniProtKB/Swiss-Prot),   Q59F91 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001295216   ⟸   NM_001308287
- Peptide Label: isoform 5
- UniProtKB: K7EQG9 (UniProtKB/TrEMBL),   Q59F91 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016881373   ⟸   XM_017025884
- Peptide Label: isoform X4
- UniProtKB: Q59F91 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024306996   ⟸   XM_024451228
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_024306997   ⟸   XM_024451229
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000311857   ⟸   ENST00000309660
RefSeq Acc Id: ENSP00000464719   ⟸   ENST00000585666
RefSeq Acc Id: ENSP00000467043   ⟸   ENST00000587703
RefSeq Acc Id: ENSP00000468408   ⟸   ENST00000589216
RefSeq Acc Id: ENSP00000320298   ⟸   ENST00000327283
RefSeq Acc Id: ENSP00000320546   ⟸   ENST00000353319
RefSeq Acc Id: ENSP00000467823   ⟸   ENST00000591497
RefSeq Acc Id: ENSP00000468012   ⟸   ENST00000591305
RefSeq Acc Id: ENSP00000464937   ⟸   ENST00000591901
RefSeq Acc Id: ENSP00000466936   ⟸   ENST00000591115
RefSeq Acc Id: ENSP00000494336   ⟸   ENST00000645816
RefSeq Acc Id: ENSP00000493693   ⟸   ENST00000645191
RefSeq Acc Id: ENSP00000468155   ⟸   ENST00000592776
RefSeq Acc Id: ENSP00000466206   ⟸   ENST00000592059
RefSeq Acc Id: ENSP00000496181   ⟸   ENST00000646492
RefSeq Acc Id: XP_047293651   ⟸   XM_047437695
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047293652   ⟸   XM_047437696
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047293653   ⟸   XM_047437697
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054174880   ⟸   XM_054318905
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054174878   ⟸   XM_054318903
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054174877   ⟸   XM_054318902
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054174875   ⟸   XM_054318900
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054174876   ⟸   XM_054318901
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054174879   ⟸   XM_054318904
- Peptide Label: isoform X5
Protein Domains
Tyrosine specific protein phosphatases   Tyrosine-protein phosphatase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P17706-F1-model_v2 AlphaFold P17706 1-415 view protein structure

Promoters
RGD ID:6794843
Promoter ID:HG_KWN:27671
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:ENST00000341361
Position:
Human AssemblyChrPosition (strand)Source
Build 361812,830,259 - 12,830,759 (-)MPROMDB
RGD ID:6794973
Promoter ID:HG_KWN:27672
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000399900,   NM_002828,   OTTHUMT00000254614,   UC002KRM.1,   UC002KRN.1,   UC002KRO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361812,873,849 - 12,874,349 (-)MPROMDB
RGD ID:7236973
Promoter ID:EPDNEW_H24232
Type:initiation region
Name:PTPN2_1
Description:protein tyrosine phosphatase, non-receptor type 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381812,884,188 - 12,884,248EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9650 AgrOrtholog
COSMIC PTPN2 COSMIC
Ensembl Genes ENSG00000175354 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000309660 ENTREZGENE
  ENST00000309660.10 UniProtKB/Swiss-Prot
  ENST00000327283 ENTREZGENE
  ENST00000327283.7 UniProtKB/Swiss-Prot
  ENST00000353319 ENTREZGENE
  ENST00000353319.8 UniProtKB/Swiss-Prot
  ENST00000585666.5 UniProtKB/TrEMBL
  ENST00000587703.5 UniProtKB/TrEMBL
  ENST00000589216.1 UniProtKB/TrEMBL
  ENST00000591115 ENTREZGENE
  ENST00000591115.5 UniProtKB/Swiss-Prot
  ENST00000591305.5 UniProtKB/TrEMBL
  ENST00000591497 ENTREZGENE
  ENST00000591497.5 UniProtKB/TrEMBL
  ENST00000591901.5 UniProtKB/TrEMBL
  ENST00000592059.5 UniProtKB/TrEMBL
  ENST00000592776.1 UniProtKB/TrEMBL
  ENST00000645191.1 UniProtKB/TrEMBL
  ENST00000645816.1 UniProtKB/TrEMBL
  ENST00000646492.1 UniProtKB/TrEMBL
Gene3D-CATH 3.90.190.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000175354 GTEx
HGNC ID HGNC:9650 ENTREZGENE
Human Proteome Map PTPN2 Human Proteome Map
InterPro Prot-tyrosine_phosphatase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTPase_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ptpn1/Ptpn2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_Pase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_Pase_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5771 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5771 ENTREZGENE
OMIM 176887 OMIM
PANTHER TYROSINE-PROTEIN PHOSPHATASE NON-RECEPTOR TYPE 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYROSINE-PROTEIN PHOSPHATASE NON-RECEPTOR TYPE 61F UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Y_phosphatase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33993 PharmGKB
PIRSF Tyr-Ptase_nr1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS PRTYPHPHTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE 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
Superfamily-SCOP SSF52799 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8YD79_HUMAN UniProtKB/TrEMBL
  A8K3N4 ENTREZGENE, UniProtKB/TrEMBL
  A8K955 ENTREZGENE
  A8MXU3 ENTREZGENE
  D3DUJ3_HUMAN UniProtKB/TrEMBL
  K7EIE9_HUMAN UniProtKB/TrEMBL
  K7EIY0_HUMAN UniProtKB/TrEMBL
  K7ELS9_HUMAN UniProtKB/TrEMBL
  K7ENG3 ENTREZGENE
  K7ENP9_HUMAN UniProtKB/TrEMBL
  K7EQG9 ENTREZGENE, UniProtKB/TrEMBL
  K7ER87_HUMAN UniProtKB/TrEMBL
  K7ERU1_HUMAN UniProtKB/TrEMBL
  P17706 ENTREZGENE, UniProtKB/Swiss-Prot
  Q59F91 ENTREZGENE, UniProtKB/TrEMBL
  Q96AU5 ENTREZGENE
  Q96HR2 ENTREZGENE
UniProt Secondary A8K955 UniProtKB/Swiss-Prot
  A8MXU3 UniProtKB/Swiss-Prot
  K7ENG3 UniProtKB/Swiss-Prot
  Q96AU5 UniProtKB/Swiss-Prot
  Q96HR2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-19 PTPN2  protein tyrosine phosphatase non-receptor type 2    protein tyrosine phosphatase, non-receptor type 2  Symbol and/or name change 5135510 APPROVED