PTPN6 (protein tyrosine phosphatase non-receptor type 6)

	Submit Data \| Help \| Video Tutorials \| News \| Publications \| Download \| REST API \| Citing RGD \| Contact
	Search RGD Grant Resources Citing RGD About Us Contact Us Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer VCMap Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease Find Models new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive Pathways Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
	Advanced Search (OLGA)

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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	6,946,577 - 6,961,316 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	12	6,946,468 - 6,961,316 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	7,055,740 - 7,070,479 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	6,926,001 - 6,940,740 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	12	6,930,762 - 6,940,740	NCBI
Celera	12	8,674,361 - 8,691,497 (+)	NCBI
Cytogenetic Map	12	p13.31	NCBI
HuRef	12	6,911,844 - 6,928,943 (+)	NCBI		HuRef
CHM1_1	12	7,054,727 - 7,069,431 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	6,957,743 - 6,974,790 (+)	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

anogenital venereal wart (IEP)

autosomal dominant familial periodic fever (IAGP)

calcinosis (EXP)

cervical cancer (IEP)

developmental and epileptic encephalopathy 21 (IAGP)

heart valve disease (EXP)

Hyperphosphatemic Familial Tumoral Calcinosis 1 (IAGP)

Klippel-Feil syndrome 3 (IAGP)

Neurodevelopmental Disorders (IAGP)

peroxisome biogenesis disorder 2B (IAGP)

respiratory allergy (EXP)

Temtamy syndrome (IAGP)

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

alpha-beta T cell receptor complex (IEA)

apical dendrite (ISO)

cell-cell junction (IEA)

cytoplasm (IBA,IDA,IEA)

cytosol (TAS)

extracellular exosome (HDA)

extracellular region (TAS)

membrane (TAS)

nucleolus (IDA)

nucleoplasm (IDA,TAS)

nucleus (IDA,IEA)

protein-containing complex (IMP)

specific granule lumen (TAS)

tertiary granule lumen (TAS)

Molecular Function

cell adhesion molecule binding (IEA)

cytokine receptor binding (ISO)

hydrolase activity (IEA)

natural killer cell lectin-like receptor binding (ISO)

non-membrane spanning protein tyrosine phosphatase activity (IBA)

phosphatase activity (IEA)

phosphoprotein phosphatase activity (IEA)

phosphorylation-dependent protein binding (IPI)

phosphotyrosine residue binding (IBA,IEA,IMP,IPI)

protein binding (IPI)

protein kinase binding (IPI)

protein tyrosine phosphatase activity (IEA,IMP,TAS)

SH2 domain binding (IEA)

SH3 domain binding (IEA)

transmembrane receptor protein tyrosine phosphatase activity (IDA)

Molecular Pathway Annotations Click to see Annotation Detail View

angiotensin II signaling pathway via AT2 receptor (ISO)

B cell receptor signaling pathway (IEA)

epidermal growth factor/neuregulin signaling pathway (EXP)

erythropoietin signaling pathway (EXP)

interleukin-4 signaling pathway (EXP)

Jak-Stat signaling pathway (IEA,TAS)

Leishmaniasis pathway (IEA)

T cell receptor signaling pathway (IEA)

vascular endothelial growth factor signaling pathway (EXP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Neurodevelopmental abnormality (IAGP)

References

References - curated


1.	GOA_HUMAN data from the GO Consortium
2.	Jones ES, etal., Pharmacol Ther. 2008 Dec;120(3):292-316. Epub 2008 Aug 31.
3.	Pipeline to import KEGG annotations from KEGG into RGD
4.	Pipeline to import Pathway Interaction Database annotations from NCI into RGD
5.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6.	RGD automated import pipeline for gene-chemical interactions
7.	Tao XH, etal., Pathol Oncol Res. 2008 Dec;14(4):365-71. doi: 10.1007/s12253-008-9065-5. Epub 2008 Jun 10.
8.	Valentino L and Pierre J, Biochem Pharmacol. 2006 Mar 14;71(6):713-21. Epub 2006 Jan 19.

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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	6,946,577 - 6,961,316 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	12	6,946,468 - 6,961,316 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	7,055,740 - 7,070,479 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	6,926,001 - 6,940,740 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	12	6,930,762 - 6,940,740	NCBI
Celera	12	8,674,361 - 8,691,497 (+)	NCBI
Cytogenetic Map	12	p13.31	NCBI
HuRef	12	6,911,844 - 6,928,943 (+)	NCBI		HuRef
CHM1_1	12	7,054,727 - 7,069,431 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	6,957,743 - 6,974,790 (+)	NCBI

Ptpn6
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	6	124,697,670 - 124,715,672 (-)	NCBI	GRCm39		mm39
GRCm39 Ensembl	6	124,697,670 - 124,715,677 (-)	Ensembl
GRCm38	6	124,720,707 - 124,738,709 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	6	124,720,707 - 124,738,714 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	6	124,670,736 - 124,688,727 (-)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	6	124,686,336 - 124,698,725 (-)	NCBI			mm8
Celera	6	126,402,447 - 126,420,442 (-)	NCBI		Celera
Cytogenetic Map	6	F2	NCBI
cM Map	6	59.17	NCBI

Ptpn6
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	4	157,526,034 - 157,550,783 (-)	NCBI	mRatBN7.2
mRatBN7.2 Ensembl	4	157,526,035 - 157,550,984 (-)	Ensembl
Rnor_6.0	4	157,239,141 - 157,263,890 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	4	157,239,142 - 157,263,890 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	4	224,256,737 - 224,281,486 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	4	160,843,699 - 160,868,856 (-)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	4	161,088,634 - 161,113,792 (-)	NCBI
Celera	4	146,264,696 - 146,289,049 (-)	NCBI		Celera
Cytogenetic Map	4	q42	NCBI

Ptpn6
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955413	4,525,954 - 4,547,177 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955413	4,525,954 - 4,547,177 (+)	NCBI	ChiLan1.0	ChiLan1.0

PTPN6
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	12	6,991,099 - 7,008,830 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	6,991,099 - 7,008,830 (+)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	12	7,075,879 - 7,093,041 (+)	NCBI	Mhudiblu_PPA_v0		panPan3

PTPN6
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	27	38,084,976 - 38,101,552 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	27	38,084,980 - 38,101,937 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	27	8,519,708 - 8,531,714 (+)	NCBI
ROS_Cfam_1.0	27	38,437,567 - 38,449,584 (-)	NCBI
ROS_Cfam_1.0 Ensembl	27	38,437,569 - 38,453,615 (-)	Ensembl
UMICH_Zoey_3.1	27	38,312,457 - 38,324,047 (-)	NCBI
UNSW_CanFamBas_1.0	27	38,353,429 - 38,365,020 (-)	NCBI
UU_Cfam_GSD_1.0	27	7,998,465 - 8,010,486 (+)	NCBI

Ptpn6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404945	102,196,659 - 102,217,158 (-)	NCBI
SpeTri2.0	NW_004936709	864,206 - 884,630 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PTPN6
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	63,762,112 - 63,808,350 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	63,762,109 - 63,779,086 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	66,198,250 - 66,215,843 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PTPN6
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	11	6,977,480 - 6,994,525 (+)	NCBI	ChlSab1.1		chlSab2
ChlSab1.1 Ensembl	11	6,984,710 - 6,994,545 (+)	Ensembl	ChlSab1.1		chlSab2
Vero_WHO_p1.0	NW_023666063	1,223,213 - 1,240,430 (-)	NCBI	Vero_WHO_p1.0

Ptpn6
(Heterocephalus glaber - naked mole-rat)

Naked Mole-rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624860	3,580,560 - 3,595,090 (+)	Ensembl	HetGla_female_1.0		hetGla2
HetGla 1.0	NW_004624860	3,580,225 - 3,595,403 (+)	NCBI	HetGla_female_1.0		hetGla2

Position Markers

RH46958

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	7,070,060 - 7,070,422	UniSTS	GRCh37
Build 36	12	6,940,321 - 6,940,683	RGD	NCBI36
Celera	12	8,691,078 - 8,691,440	RGD
Cytogenetic Map	12	p13	UniSTS
HuRef	12	6,928,524 - 6,928,886	UniSTS
GeneMap99-GB4 RH Map	12	45.71	UniSTS

RH79905

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	7,070,072 - 7,070,480	UniSTS	GRCh37
Build 36	12	6,940,333 - 6,940,741	RGD	NCBI36
Celera	12	8,691,090 - 8,691,498	RGD
Cytogenetic Map	12	p13	UniSTS
HuRef	12	6,928,536 - 6,928,944	UniSTS

SHGC-31976

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	7,055,019 - 7,055,162	UniSTS	GRCh37
Build 36	12	6,925,280 - 6,925,423	RGD	NCBI36
Celera	12	8,673,640 - 8,673,783	RGD
Cytogenetic Map	12	p13.31	UniSTS
Cytogenetic Map	12	p13	UniSTS
HuRef	12	6,911,123 - 6,911,266	UniSTS
Stanford-G3 RH Map	12	441.0	UniSTS
NCBI RH Map	12	127.8	UniSTS
GeneMap99-G3 RH Map	12	441.0	UniSTS

RH80060

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	7,070,044 - 7,070,456	UniSTS	GRCh37
Celera	12	8,691,062 - 8,691,474	UniSTS
Cytogenetic Map	12	p13	UniSTS
HuRef	12	6,928,508 - 6,928,920	UniSTS

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

Low

1197

1752

181

165

158

1743

1941

2777

115

755

217

1574

Below cutoff

View RNA-SEQ Expression Data

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 Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	12	6,951,356 - 6,961,316 (+)	Ensembl

RefSeq Acc Id:

ENST00000399448 ⟹ ENSP00000382376

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	12	6,946,577 - 6,961,316 (+)	Ensembl

RefSeq Acc Id:

ENST00000416215

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	12	6,951,356 - 6,961,316 (+)	Ensembl

RefSeq Acc Id:

ENST00000456013 ⟹ ENSP00000391592

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	12	6,951,271 - 6,961,316 (+)	Ensembl

RefSeq Acc Id:

ENST00000534900

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	12	6,946,610 - 6,955,173 (+)	Ensembl

RefSeq Acc Id:

ENST00000535462 ⟹ ENSP00000441044

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	12	6,951,373 - 6,954,915 (+)	Ensembl

RefSeq Acc Id:

ENST00000536013 ⟹ ENSP00000446345

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	12	6,951,437 - 6,955,394 (+)	Ensembl

RefSeq Acc Id:

ENST00000536521

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	12	6,951,373 - 6,952,224 (+)	Ensembl

RefSeq Acc Id:

ENST00000537533

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	12	6,959,576 - 6,961,316 (+)	Ensembl

RefSeq Acc Id:

ENST00000538318

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	12	6,946,710 - 6,955,267 (+)	Ensembl

RefSeq Acc Id:

ENST00000538715 ⟹ ENSP00000438740

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	12	6,951,262 - 6,954,973 (+)	Ensembl

RefSeq Acc Id:

ENST00000539029

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	12	6,959,322 - 6,961,316 (+)	Ensembl

RefSeq Acc Id:

ENST00000539365

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	12	6,951,441 - 6,955,485 (+)	Ensembl

RefSeq Acc Id:

ENST00000540740

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	12	6,951,356 - 6,954,847 (+)	Ensembl

RefSeq Acc Id:

ENST00000541698 ⟹ ENSP00000445646

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	12	6,951,373 - 6,955,186 (+)	Ensembl

RefSeq Acc Id:

ENST00000542277

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	12	6,951,435 - 6,953,601 (+)	Ensembl

RefSeq Acc Id:

ENST00000542462 ⟹ ENSP00000440114

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	12	6,951,375 - 6,955,189 (+)	Ensembl

RefSeq Acc Id:

ENST00000542761

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	12	6,959,413 - 6,960,404 (+)	Ensembl

RefSeq Acc Id:

ENST00000542848 ⟹ ENSP00000444805

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	12	6,946,574 - 6,955,262 (+)	Ensembl

RefSeq Acc Id:

ENST00000543115 ⟹ ENSP00000443393

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	12	6,946,468 - 6,952,180 (+)	Ensembl

RefSeq Acc Id:

ENST00000543120

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	12	6,946,577 - 6,954,939 (+)	Ensembl

RefSeq Acc Id:

ENST00000543744

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	12	6,951,285 - 6,953,415 (+)	Ensembl

RefSeq Acc Id:

ENST00000545153 ⟹ ENSP00000476175

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	12	6,951,372 - 6,955,485 (+)	Ensembl

RefSeq Acc Id:

NM_002831 ⟹ NP_002822

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	6,951,356 - 6,961,316 (+)	NCBI
GRCh37	12	7,055,740 - 7,070,479 (+)	ENTREZGENE
Build 36	12	6,930,704 - 6,940,740 (+)	NCBI Archive
HuRef	12	6,911,844 - 6,928,943 (+)	ENTREZGENE
CHM1_1	12	7,059,386 - 7,069,431 (+)	NCBI
T2T-CHM13v2.0	12	6,964,830 - 6,974,790 (+)	NCBI

Sequence:

show sequence

AGTGGAGTGGCAGCCCCAGAACTGGGACCACCGGGGGTGGTGAGGCGGCCCGGCACTGGGAGCT
GCATCTGAGGCTTAGTCCCTGAGCTCTCTGCCTGCCCAGACTAGCTGCACCTCCTCATTCCCTG
CGCCCCCTTCCTCTCCGGAAGCCCCCAGGATGGTGAGGTGGTTTCACCGAGACCTCAGTGGGCT
GGATGCAGAGACCCTGCTCAAGGGCCGAGGTGTCCACGGTAGCTTCCTGGCTCGGCCCAGTCGC
AAGAACCAGGGTGACTTCTCGCTCTCCGTCAGGGTGGGGGATCAGGTGACCCATATTCGGATCC
AGAACTCAGGGGATTTCTATGACCTGTATGGAGGGGAGAAGTTTGCGACTCTGACAGAGCTGGT
GGAGTACTACACTCAGCAGCAGGGTGTCCTGCAGGACCGCGACGGCACCATCATCCACCTCAAG
TACCCGCTGAACTGCTCCGATCCCACTAGTGAGAGGTGGTACCATGGCCACATGTCTGGCGGGC
AGGCAGAGACGCTGCTGCAGGCCAAGGGCGAGCCCTGGACGTTTCTTGTGCGTGAGAGCCTCAG
CCAGCCTGGAGACTTCGTGCTTTCTGTGCTCAGTGACCAGCCCAAGGCTGGCCCAGGCTCCCCG
CTCAGGGTCACCCACATCAAGGTCATGTGCGAGGGTGGACGCTACACAGTGGGTGGTTTGGAGA
CCTTCGACAGCCTCACGGACCTGGTGGAGCATTTCAAGAAGACGGGGATTGAGGAGGCCTCAGG
CGCCTTTGTCTACCTGCGGCAGCCGTACTATGCCACGAGGGTGAATGCGGCTGACATTGAGAAC
CGAGTGTTGGAACTGAACAAGAAGCAGGAGTCCGAGGATACAGCCAAGGCTGGCTTCTGGGAGG
AGTTTGAGAGTTTGCAGAAGCAGGAGGTGAAGAACTTGCACCAGCGTCTGGAAGGGCAGCGGCC
AGAGAACAAGGGCAAGAACCGCTACAAGAACATTCTCCCCTTTGACCACAGCCGAGTGATCCTG
CAGGGACGGGACAGTAACATCCCCGGGTCCGACTACATCAATGCCAACTACATCAAGAACCAGC
TGCTAGGCCCTGATGAGAACGCTAAGACCTACATCGCCAGCCAGGGTTGTCTGGAGGCCACGGT
CAATGACTTCTGGCAGATGGCGTGGCAGGAGAACAGCCGTGTCATCGTCATGACCACCCGAGAG
GTGGAGAAAGGCCGGAACAAATGCGTCCCATACTGGCCCGAGGTGGGCATGCAGCGTGCTTATG
GGCCCTACTCTGTGACCAACTGCGGGGAGCATGACACAACCGAATACAAACTCCGTACCTTACA
GGTCTCCCCGCTGGACAATGGAGACCTGATTCGGGAGATCTGGCATTACCAGTACCTGAGCTGG
CCCGACCATGGGGTCCCCAGTGAGCCTGGGGGTGTCCTCAGCTTCCTGGACCAGATCAACCAGC
GGCAGGAAAGTCTGCCTCACGCAGGGCCCATCATCGTGCACTGCAGCGCCGGCATCGGCCGCAC
AGGCACCATCATTGTCATCGACATGCTCATGGAGAACATCTCCACCAAGGGCCTGGACTGTGAC
ATTGACATCCAGAAGACCATCCAGATGGTGCGGGCGCAGCGCTCGGGCATGGTGCAGACGGAGG
CGCAGTACAAGTTCATCTACGTGGCCATCGCCCAGTTCATTGAAACCACTAAGAAGAAGCTGGA
GGTCCTGCAGTCGCAGAAGGGCCAGGAGTCGGAGTACGGGAACATCACCTATCCCCCAGCCATG
AAGAATGCCCATGCCAAGGCCTCCCGCACCTCGTCCAAACACAAGGAGGATGTGTATGAGAACC
TGCACACTAAGAACAAGAGGGAGGAGAAAGTGAAGAAGCAGCGGTCAGCAGACAAGGAGAAGAG
CAAGGGTTCCCTCAAGAGGAAGTGAGCGGTGCTGTCCTCAGGTGGCCATGCCTCAGCCCTGACC
CTGTGGAAGCATTTCGCGATGGACAGACTCACAACCTGAACCTAGGAGTGCCCCATTCTTTTGT
AATTTAAATGGCTGCATCCCCCCCACCTCTCCCTGACCCTGTATATAGCCCAGCCAGGCCCCAG
GCAGGGCCAACCCTTCTCCTCTTGTAAATAAAGCCCTGGGATCACTGTG

hide sequence

RefSeq Acc Id:

NM_080548 ⟹ NP_536858

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	6,946,577 - 6,961,316 (+)	NCBI
GRCh37	12	7,055,740 - 7,070,479 (+)	NCBI
Build 36	12	6,926,001 - 6,940,740 (+)	NCBI Archive
HuRef	12	6,911,844 - 6,928,943 (+)	ENTREZGENE
CHM1_1	12	7,054,727 - 7,069,431 (+)	NCBI
T2T-CHM13v2.0	12	6,957,743 - 6,974,790 (+)	NCBI

Sequence:

show sequence

ATTGGCCTGGCAGGCAGGATCGAGGAGGAAGTGGCTGATTACTGAGCGGTTCTTCCTCACCTGG
CTTGGGCCACTGTGCACAGCTGTGCCGCTGGCTCAGCCCCGCCCCCTGCGGCCCTCTGCCGTGG
CTTCCCCCTCCCTACAGAGAGATGCTGTCCCGTGGGTGGTTTCACCGAGACCTCAGTGGGCTGG
ATGCAGAGACCCTGCTCAAGGGCCGAGGTGTCCACGGTAGCTTCCTGGCTCGGCCCAGTCGCAA
GAACCAGGGTGACTTCTCGCTCTCCGTCAGGGTGGGGGATCAGGTGACCCATATTCGGATCCAG
AACTCAGGGGATTTCTATGACCTGTATGGAGGGGAGAAGTTTGCGACTCTGACAGAGCTGGTGG
AGTACTACACTCAGCAGCAGGGTGTCCTGCAGGACCGCGACGGCACCATCATCCACCTCAAGTA
CCCGCTGAACTGCTCCGATCCCACTAGTGAGAGGTGGTACCATGGCCACATGTCTGGCGGGCAG
GCAGAGACGCTGCTGCAGGCCAAGGGCGAGCCCTGGACGTTTCTTGTGCGTGAGAGCCTCAGCC
AGCCTGGAGACTTCGTGCTTTCTGTGCTCAGTGACCAGCCCAAGGCTGGCCCAGGCTCCCCGCT
CAGGGTCACCCACATCAAGGTCATGTGCGAGGGTGGACGCTACACAGTGGGTGGTTTGGAGACC
TTCGACAGCCTCACGGACCTGGTGGAGCATTTCAAGAAGACGGGGATTGAGGAGGCCTCAGGCG
CCTTTGTCTACCTGCGGCAGCCGTACTATGCCACGAGGGTGAATGCGGCTGACATTGAGAACCG
AGTGTTGGAACTGAACAAGAAGCAGGAGTCCGAGGATACAGCCAAGGCTGGCTTCTGGGAGGAG
TTTGAGAGTTTGCAGAAGCAGGAGGTGAAGAACTTGCACCAGCGTCTGGAAGGGCAGCGGCCAG
AGAACAAGGGCAAGAACCGCTACAAGAACATTCTCCCCTTTGACCACAGCCGAGTGATCCTGCA
GGGACGGGACAGTAACATCCCCGGGTCCGACTACATCAATGCCAACTACATCAAGAACCAGCTG
CTAGGCCCTGATGAGAACGCTAAGACCTACATCGCCAGCCAGGGTTGTCTGGAGGCCACGGTCA
ATGACTTCTGGCAGATGGCGTGGCAGGAGAACAGCCGTGTCATCGTCATGACCACCCGAGAGGT
GGAGAAAGGCCGGAACAAATGCGTCCCATACTGGCCCGAGGTGGGCATGCAGCGTGCTTATGGG
CCCTACTCTGTGACCAACTGCGGGGAGCATGACACAACCGAATACAAACTCCGTACCTTACAGG
TCTCCCCGCTGGACAATGGAGACCTGATTCGGGAGATCTGGCATTACCAGTACCTGAGCTGGCC
CGACCATGGGGTCCCCAGTGAGCCTGGGGGTGTCCTCAGCTTCCTGGACCAGATCAACCAGCGG
CAGGAAAGTCTGCCTCACGCAGGGCCCATCATCGTGCACTGCAGCGCCGGCATCGGCCGCACAG
GCACCATCATTGTCATCGACATGCTCATGGAGAACATCTCCACCAAGGGCCTGGACTGTGACAT
TGACATCCAGAAGACCATCCAGATGGTGCGGGCGCAGCGCTCGGGCATGGTGCAGACGGAGGCG
CAGTACAAGTTCATCTACGTGGCCATCGCCCAGTTCATTGAAACCACTAAGAAGAAGCTGGAGG
TCCTGCAGTCGCAGAAGGGCCAGGAGTCGGAGTACGGGAACATCACCTATCCCCCAGCCATGAA
GAATGCCCATGCCAAGGCCTCCCGCACCTCGTCCAAACACAAGGAGGATGTGTATGAGAACCTG
CACACTAAGAACAAGAGGGAGGAGAAAGTGAAGAAGCAGCGGTCAGCAGACAAGGAGAAGAGCA
AGGGTTCCCTCAAGAGGAAGTGAGCGGTGCTGTCCTCAGGTGGCCATGCCTCAGCCCTGACCCT
GTGGAAGCATTTCGCGATGGACAGACTCACAACCTGAACCTAGGAGTGCCCCATTCTTTTGTAA
TTTAAATGGCTGCATCCCCCCCACCTCTCCCTGACCCTGTATATAGCCCAGCCAGGCCCCAGGC
AGGGCCAACCCTTCTCCTCTTGTAAATAAAGCCCTGGGATCACTGTG

hide sequence

RefSeq Acc Id:

NM_080549 ⟹ NP_536859

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	6,951,356 - 6,961,316 (+)	NCBI
GRCh37	12	7,055,740 - 7,070,479 (+)	ENTREZGENE
HuRef	12	6,911,844 - 6,928,943 (+)	ENTREZGENE
CHM1_1	12	7,059,386 - 7,069,431 (+)	NCBI
T2T-CHM13v2.0	12	6,964,830 - 6,974,790 (+)	NCBI

Sequence:

show sequence

AGTGGAGTGGCAGCCCCAGAACTGGGACCACCGGGGGTGGTGAGGCGGCCCGGCACTGGGAGCT
GCATCTGAGGCTTAGTCCCTGAGCTCTCTGCCTGCCCAGACTAGCTGCACCTCCTCATTCCCTG
CGCCCCCTTCCTCTCCGGAAGCCCCCAGGATGGTGAGGTGGTTTCACCGAGACCTCAGTGGGCT
GGATGCAGAGACCCTGCTCAAGGGCCGAGGTGTCCACGGTAGCTTCCTGGCTCGGCCCAGTCGC
AAGAACCAGGGTGACTTCTCGCTCTCCGTCAGGGTGGGGGATCAGGTGACCCATATTCGGATCC
AGAACTCAGGGGATTTCTATGACCTGTATGGAGGGGAGAAGTTTGCGACTCTGACAGAGCTGGT
GGAGTACTACACTCAGCAGCAGGGTGTCCTGCAGGACCGCGACGGCACCATCATCCACCTCAAG
TACCCGCTGAACTGCTCCGATCCCACTAGTGAGAGGTGGTACCATGGCCACATGTCTGGCGGGC
AGGCAGAGACGCTGCTGCAGGCCAAGGGCGAGCCCTGGACGTTTCTTGTGCGTGAGAGCCTCAG
CCAGCCTGGAGACTTCGTGCTTTCTGTGCTCAGTGACCAGCCCAAGGCTGGCCCAGGCTCCCCG
CTCAGGGTCACCCACATCAAGGTCATGTGCGAGGGTGGACGCTACACAGTGGGTGGTTTGGAGA
CCTTCGACAGCCTCACGGACCTGGTGGAGCATTTCAAGAAGACGGGGATTGAGGAGGCCTCAGG
CGCCTTTGTCTACCTGCGGCAGCCGTACTATGCCACGAGGGTGAATGCGGCTGACATTGAGAAC
CGAGTGTTGGAACTGAACAAGAAGCAGGAGTCCGAGGATACAGCCAAGGCTGGCTTCTGGGAGG
AGTTTGAGAGTTTGCAGAAGCAGGAGGTGAAGAACTTGCACCAGCGTCTGGAAGGGCAGCGGCC
AGAGAACAAGGGCAAGAACCGCTACAAGAACATTCTCCCCTTTGACCACAGCCGAGTGATCCTG
CAGGGACGGGACAGTAACATCCCCGGGTCCGACTACATCAATGCCAACTACATCAAGAACCAGC
TGCTAGGCCCTGATGAGAACGCTAAGACCTACATCGCCAGCCAGGGTTGTCTGGAGGCCACGGT
CAATGACTTCTGGCAGATGGCGTGGCAGGAGAACAGCCGTGTCATCGTCATGACCACCCGAGAG
GTGGAGAAAGGCCGGAACAAATGCGTCCCATACTGGCCCGAGGTGGGCATGCAGCGTGCTTATG
GGCCCTACTCTGTGACCAACTGCGGGGAGCATGACACAACCGAATACAAACTCCGTACCTTACA
GGTCTCCCCGCTGGACAATGGAGACCTGATTCGGGAGATCTGGCATTACCAGTACCTGAGCTGG
CCCGACCATGGGGTCCCCAGTGAGCCTGGGGGTGTCCTCAGCTTCCTGGACCAGATCAACCAGC
GGCAGGAAAGTCTGCCTCACGCAGGGCCCATCATCGTGCACTGCAGCGCCGGCATCGGCCGCAC
AGGCACCATCATTGTCATCGACATGCTCATGGAGAACATCTCCACCAAGGGCCTGGACTGTGAC
ATTGACATCCAGAAGACCATCCAGATGGTGCGGGCGCAGCGCTCGGGCATGGTGCAGACGGAGG
CGCAGTACAAGTTCATCTACGTGGCCATCGCCCAGTTCATTGAAACCACTAAGAAGAAGCTGGA
GGTCCTGCAGTCGCAGAAGGGCCAGGAGTCGGAGTACGGGAACATCACCTATCCCCCAGCCATG
AAGAATGCCCATGCCAAGGCCTCCCGCACCTCGTCCAAGAGCTTGGAGTCTAGTGCAGGGACCG
TGGCTGCGTCACCTGTGAGACGGGGTGGCCAGAGGGGACTGCCAGTGCCGGGTCCCCCTGTGCT
GTCTCCTGACCTGCACCAACTGCCTGTACTTGCCCCCCTGCACCCGGCTGCAGACACAAGGAGG
ATGTGTATGAGAACCTGCACACTAAGAACAAGAGGGAGGAGAAAGTGAAGAAGCAGCGGTCAGC
AGACAAGGAGAAGAGCAAGGGTTCCCTCAAGAGGAAGTGAGCGGTGCTGTCCTCAGGTGGCCAT
GCCTCAGCCCTGACCCTGTGGAAGCATTTCGCGATGGACAGACTCACAACCTGAACCTAGGAGT
GCCCCATTCTTTTGTAATTTAAATGGCTGCATCCCCCCCACCTCTCCCTGACCCTGTATATAGC
CCAGCCAGGCCCCAGGCAGGGCCAACCCTTCTCCTCTTGTAAATAAAGCCCTGGGATCACTGTG

hide sequence

RefSeq Acc Id:

XM_011520988 ⟹ XP_011519290

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	6,946,577 - 6,961,316 (+)	NCBI

Sequence:

show sequence

ATTGGCCTGGCAGGCAGGATCGAGGAGGAAGTGGCTGATTACTGAGCGGTTCTTCCTCACCTGG
CTTGGGCCACTGTGCACAGCTGTGCCGCTGGCTCAGCCCCGCCCCCTGCGGCCCTCTGCCGTGG
CTTCCCCCTCCCTACAGAGAGATGCTGTCCCGTGGGTGGTTTCACCGAGACCTCAGTGGGCTGG
ATGCAGAGACCCTGCTCAAGGGCCGAGGTGTCCACGGTAGCTTCCTGGCTCGGCCCAGTCGCAA
GAACCAGGGTGACTTCTCGCTCTCCGTCAGGGTGGGGGATCAGGTGACCCATATTCGGATCCAG
AACTCAGGGGATTTCTATGACCTGTATGGAGGGGAGAAGTTTGCGACTCTGACAGAGCTGGTGG
AGTACTACACTCAGCAGCAGGGTGTCCTGCAGGACCGCGACGGCACCATCATCCACCTCAAGTA
CCCGCTGAACTGCTCCGATCCCACTAGTGAGAGGTGGTACCATGGCCACATGTCTGGCGGGCAG
GCAGAGACGCTGCTGCAGGCCAAGGGCGAGCCCTGGACGTTTCTTGTGCGTGAGAGCCTCAGCC
AGCCTGGAGACTTCGTGCTTTCTGTGCTCAGTGACCAGCCCAAGGCTGGCCCAGGCTCCCCGCT
CAGGGTCACCCACATCAAGGTCATGTGCGAGGGTGGACGCTACACAGTGGGTGGTTTGGAGACC
TTCGACAGCCTCACGGACCTGGTGGAGCATTTCAAGAAGACGGGGATTGAGGAGGCCTCAGGCG
CCTTTGTCTACCTGCGGCAGCCGTACTATGCCACGAGGGTGAATGCGGCTGACATTGAGAACCG
AGTGTTGGAACTGAACAAGAAGCAGGAGTCCGAGGATACAGCCAAGGCTGGCTTCTGGGAGGAG
TTTGAGAGTTTGCAGAAGCAGGAGGTGAAGAACTTGCACCAGCGTCTGGAAGGGCAGCGGCCAG
AGAACAAGGGCAAGAACCGCTACAAGAACATTCTCCCCTTTGACCACAGCCGAGTGATCCTGCA
GGGACGGGACAGTAACATCCCCGGGTCCGACTACATCAATGCCAACTACATCAAGAACCAGCTG
CTAGGCCCTGATGAGAACGCTAAGACCTACATCGCCAGCCAGGGTTGTCTGGAGGCCACGGTCA
ATGACTTCTGGCAGATGGCGTGGCAGGAGAACAGCCGTGTCATCGTCATGACCACCCGAGAGGT
GGAGAAAGGCCGGAACAAATGCGTCCCATACTGGCCCGAGGTGGGCATGCAGCGTGCTTATGGG
CCCTACTCTGTGACCAACTGCGGGGAGCATGACACAACCGAATACAAACTCCGTACCTTACAGG
TCTCCCCGCTGGACAATGGAGACCTGATTCGGGAGATCTGGCATTACCAGTACCTGAGCTGGCC
CGACCATGGGGTCCCCAGTGAGCCTGGGGGTGTCCTCAGCTTCCTGGACCAGATCAACCAGCGG
CAGGAAAGTCTGCCTCACGCAGGGCCCATCATCGTGCACTGCAGCGCCGGCATCGGCCGCACAG
GCACCATCATTGTCATCGACATGCTCATGGAGAACATCTCCACCAAGGGCCTGGACTGTGACAT
TGACATCCAGAAGACCATCCAGATGGTGCGGGCGCAGCGCTCGGGCATGGTGCAGACGGAGGCG
CAGTACAAGTTCATCTACGTGGCCATCGCCCAGTTCATTGAAACCACTAAGAAGAAGCTGGAGG
TCCTGCAGTCGCAGAAGGGCCAGGAGTCGGAGTACGGGAACATCACCTATCCCCCAGCCATGAA
GAATGCCCATGCCAAGGCCTCCCGCACCTCGTCCAAACACAAGGAGGATGTGTATGAGAACCTG
CACACTAAGAACAAGAGGGAGGAGAAAGTGAAGAAGCAGCGGTCAGCAGACAAGGAGAAGAGCA
AGGGTTCCCTCAAGAGGAAGTGAGCGGTGCTGTCCTCAGCCTCAGCCCTGACCCTGTGGAAGCA
TTTCGCGATGGACAGACTCACAACCTGAACCTAGGAGTGCCCCATTCTTTTGTAATTTAAATGG
CTGCATCCCCCCCACCTCTCCCTGACCCTGTATATAGCCCAGCCAGGCCCCAGGCAGGGCCAAC
CCTTCTCCTCTTGTAAATAAAGCCCTGGGATCACTGTG

hide sequence

RefSeq Acc Id:

XM_024449106 ⟹ XP_024304874

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	6,951,356 - 6,961,316 (+)	NCBI

Sequence:

show sequence

AGTGGAGTGGCAGCCCCAGAACTGGGACCACCGGGGGTGGTGAGGCGGCCCGGCACTGGGAGCT
GCATCTGAGGCTTAGTCCCTGAGCTCTCTGCCTGCCCAGACTAGCTGCACCTCCTCATTCCCTG
CGCCCCCTTCCTCTCCGGAAGCCCCCAGGATGGTGAGGTGGTTTCACCGAGACCTCAGTGGGCT
GGATGCAGAGACCCTGCTCAAGGGCCGAGGTGTCCACGGTAGCTTCCTGGCTCGGCCCAGTCGC
AAGAACCAGGGTGACTTCTCGCTCTCCGTCAGGGTGGGGGATCAGGTGACCCATATTCGGATCC
AGAACTCAGGGGATTTCTATGACCTGTATGGAGGGGAGAAGTTTGCGACTCTGACAGAGCTGGT
GGAGTACTACACTCAGCAGCAGGGTGTCCTGCAGGACCGCGACGGCACCATCATCCACCTCAAG
TACCCGCTGAACTGCTCCGATCCCACTAGTGAGAGGTGGTACCATGGCCACATGTCTGGCGGGC
AGGCAGAGACGCTGCTGCAGGCCAAGGGCGAGCCCTGGACGTTTCTTGTGCGTGAGAGCCTCAG
CCAGCCTGGAGACTTCGTGCTTTCTGTGCTCAGTGACCAGCCCAAGGCTGGCCCAGGCTCCCCG
CTCAGGGTCACCCACATCAAGGTCATGTGCGAGGGTGGACGCTACACAGTGGGTGGTTTGGAGA
CCTTCGACAGCCTCACGGACCTGGTGGAGCATTTCAAGAAGACGGGGATTGAGGAGGCCTCAGG
CGCCTTTGTCTACCTGCGGCAGCCGTACTATGCCACGAGGGTGAATGCGGCTGACATTGAGAAC
CGAGTGTTGGAACTGAACAAGAAGCAGGAGTCCGAGGATACAGCCAAGGCTGGCTTCTGGGAGG
AGTTTGAGAGTTTGCAGAAGCAGGAGGTGAAGAACTTGCACCAGCGTCTGGAAGGGCAGCGGCC
AGAGAACAAGGGCAAGAACCGCTACAAGAACATTCTCCCCTTTGACCACAGCCGAGTGATCCTG
CAGGGACGGGACAGTAACATCCCCGGGTCCGACTACATCAATGCCAACTACATCAAGAACCAGC
TGCTAGGCCCTGATGAGAACGCTAAGACCTACATCGCCAGCCAGGGTTGTCTGGAGGCCACGGT
CAATGACTTCTGGCAGATGGCGTGGCAGGAGAACAGCCGTGTCATCGTCATGACCACCCGAGAG
GTGGAGAAAGGCCGGAACAAATGCGTCCCATACTGGCCCGAGGTGGGCATGCAGCGTGCTTATG
GGCCCTACTCTGTGACCAACTGCGGGGAGCATGACACAACCGAATACAAACTCCGTACCTTACA
GGTCTCCCCGCTGGACAATGGAGACCTGATTCGGGAGATCTGGCATTACCAGTACCTGAGCTGG
CCCGACCATGGGGTCCCCAGTGAGCCTGGGGGTGTCCTCAGCTTCCTGGACCAGATCAACCAGC
GGCAGGAAAGTCTGCCTCACGCAGGGCCCATCATCGTGCACTGCAGCGCCGGCATCGGCCGCAC
AGGCACCATCATTGTCATCGACATGCTCATGGAGAACATCTCCACCAAGGGCCTGGACTGTGAC
ATTGACATCCAGAAGACCATCCAGATGGTGCGGGCGCAGCGCTCGGGCATGGTGCAGACGGAGG
CGCAGTACAAGTTCATCTACGTGGCCATCGCCCAGTTCATTGAAACCACTAAGAAGAAGCTGGA
GGTCCTGCAGTCGCAGAAGGGCCAGGAGTCGGAGTACGGGAACATCACCTATCCCCCAGCCATG
AAGAATGCCCATGCCAAGGCCTCCCGCACCTCGTCCAAACACAAGGAGGATGTGTATGAGAACC
TGCACACTAAGAACAAGAGGGAGGAGAAAGTGAAGAAGCAGCGGTCAGCAGACAAGGAGAAGAG
CAAGGGTTCCCTCAAGAGGAAGTGAGCGGTGCTGTCCTCAGCCTCAGCCCTGACCCTGTGGAAG
CATTTCGCGATGGACAGACTCACAACCTGAACCTAGGAGTGCCCCATTCTTTTGTAATTTAAAT
GGCTGCATCCCCCCCACCTCTCCCTGACCCTGTATATAGCCCAGCCAGGCCCCAGGCAGGGCCA
ACCCTTCTCCTCTTGTAAATAAAGCCCTGGGATCACTGTG

hide sequence

RefSeq Acc Id:

XM_047429231 ⟹ XP_047285187

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	6,946,577 - 6,961,316 (+)	NCBI

RefSeq Acc Id:

XM_047429232 ⟹ XP_047285188

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	6,951,356 - 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:	show sequence MLSRGWFHRDLSGLDAETLLKGRGVHGSFLARPSRKNQGDFSLSVRVGDQVTHIRIQNSGDFYD LYGGEKFATLTELVEYYTQQQGVLQDRDGTIIHLKYPLNCSDPTSERWYHGHMSGGQAETLLQA KGEPWTFLVRESLSQPGDFVLSVLSDQPKAGPGSPLRVTHIKVMCEGGRYTVGGLETFDSLTDL VEHFKKTGIEEASGAFVYLRQPYYATRVNAADIENRVLELNKKQESEDTAKAGFWEEFESLQKQ EVKNLHQRLEGQRPENKGKNRYKNILPFDHSRVILQGRDSNIPGSDYINANYIKNQLLGPDENA KTYIASQGCLEATVNDFWQMAWQENSRVIVMTTREVEKGRNKCVPYWPEVGMQRAYGPYSVTNC GEHDTTEYKLRTLQVSPLDNGDLIREIWHYQYLSWPDHGVPSEPGGVLSFLDQINQRQESLPHA GPIIVHCSAGIGRTGTIIVIDMLMENISTKGLDCDIDIQKTIQMVRAQRSGMVQTEAQYKFIYV AIAQFIETTKKKLEVLQSQKGQESEYGNITYPPAMKNAHAKASRTSSKHKEDVYENLHTKNKRE EKVKKQRSADKEKSKGSLKRK hide sequence

RefSeq Acc Id:	NP_536859 ⟸ NM_080549
- Peptide Label:	isoform 3
- UniProtKB:	P29350 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MVRWFHRDLSGLDAETLLKGRGVHGSFLARPSRKNQGDFSLSVRVGDQVTHIRIQNSGDFYDLY GGEKFATLTELVEYYTQQQGVLQDRDGTIIHLKYPLNCSDPTSERWYHGHMSGGQAETLLQAKG EPWTFLVRESLSQPGDFVLSVLSDQPKAGPGSPLRVTHIKVMCEGGRYTVGGLETFDSLTDLVE HFKKTGIEEASGAFVYLRQPYYATRVNAADIENRVLELNKKQESEDTAKAGFWEEFESLQKQEV KNLHQRLEGQRPENKGKNRYKNILPFDHSRVILQGRDSNIPGSDYINANYIKNQLLGPDENAKT YIASQGCLEATVNDFWQMAWQENSRVIVMTTREVEKGRNKCVPYWPEVGMQRAYGPYSVTNCGE HDTTEYKLRTLQVSPLDNGDLIREIWHYQYLSWPDHGVPSEPGGVLSFLDQINQRQESLPHAGP IIVHCSAGIGRTGTIIVIDMLMENISTKGLDCDIDIQKTIQMVRAQRSGMVQTEAQYKFIYVAI AQFIETTKKKLEVLQSQKGQESEYGNITYPPAMKNAHAKASRTSSKSLESSAGTVAASPVRRGG QRGLPVPGPPVLSPDLHQLPVLAPLHPAADTRRMCMRTCTLRTRGRRK hide sequence

RefSeq Acc Id:	NP_002822 ⟸ NM_002831
- Peptide Label:	isoform 1
- UniProtKB:	P29350 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MVRWFHRDLSGLDAETLLKGRGVHGSFLARPSRKNQGDFSLSVRVGDQVTHIRIQNSGDFYDLY GGEKFATLTELVEYYTQQQGVLQDRDGTIIHLKYPLNCSDPTSERWYHGHMSGGQAETLLQAKG EPWTFLVRESLSQPGDFVLSVLSDQPKAGPGSPLRVTHIKVMCEGGRYTVGGLETFDSLTDLVE HFKKTGIEEASGAFVYLRQPYYATRVNAADIENRVLELNKKQESEDTAKAGFWEEFESLQKQEV KNLHQRLEGQRPENKGKNRYKNILPFDHSRVILQGRDSNIPGSDYINANYIKNQLLGPDENAKT YIASQGCLEATVNDFWQMAWQENSRVIVMTTREVEKGRNKCVPYWPEVGMQRAYGPYSVTNCGE HDTTEYKLRTLQVSPLDNGDLIREIWHYQYLSWPDHGVPSEPGGVLSFLDQINQRQESLPHAGP IIVHCSAGIGRTGTIIVIDMLMENISTKGLDCDIDIQKTIQMVRAQRSGMVQTEAQYKFIYVAI AQFIETTKKKLEVLQSQKGQESEYGNITYPPAMKNAHAKASRTSSKHKEDVYENLHTKNKREEK VKKQRSADKEKSKGSLKRK hide sequence

RefSeq Acc Id:	XP_011519290 ⟸ XM_011520988
- Peptide Label:	isoform X1
- UniProtKB:	P29350 (UniProtKB/Swiss-Prot), Q53XS4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLSRGWFHRDLSGLDAETLLKGRGVHGSFLARPSRKNQGDFSLSVRVGDQVTHIRIQNSGDFYD LYGGEKFATLTELVEYYTQQQGVLQDRDGTIIHLKYPLNCSDPTSERWYHGHMSGGQAETLLQA KGEPWTFLVRESLSQPGDFVLSVLSDQPKAGPGSPLRVTHIKVMCEGGRYTVGGLETFDSLTDL VEHFKKTGIEEASGAFVYLRQPYYATRVNAADIENRVLELNKKQESEDTAKAGFWEEFESLQKQ EVKNLHQRLEGQRPENKGKNRYKNILPFDHSRVILQGRDSNIPGSDYINANYIKNQLLGPDENA KTYIASQGCLEATVNDFWQMAWQENSRVIVMTTREVEKGRNKCVPYWPEVGMQRAYGPYSVTNC GEHDTTEYKLRTLQVSPLDNGDLIREIWHYQYLSWPDHGVPSEPGGVLSFLDQINQRQESLPHA GPIIVHCSAGIGRTGTIIVIDMLMENISTKGLDCDIDIQKTIQMVRAQRSGMVQTEAQYKFIYV AIAQFIETTKKKLEVLQSQKGQESEYGNITYPPAMKNAHAKASRTSSKHKEDVYENLHTKNKRE EKVKKQRSADKEKSKGSLKRK hide sequence

RefSeq Acc Id:

XP_024304874 ⟸ XM_024449106

- Peptide Label:

isoform X2

- Sequence:

show sequence

MVRWFHRDLSGLDAETLLKGRGVHGSFLARPSRKNQGDFSLSVRVGDQVTHIRIQNSGDFYDLY
GGEKFATLTELVEYYTQQQGVLQDRDGTIIHLKYPLNCSDPTSERWYHGHMSGGQAETLLQAKG
EPWTFLVRESLSQPGDFVLSVLSDQPKAGPGSPLRVTHIKVMCEGGRYTVGGLETFDSLTDLVE
HFKKTGIEEASGAFVYLRQPYYATRVNAADIENRVLELNKKQESEDTAKAGFWEEFESLQKQEV
KNLHQRLEGQRPENKGKNRYKNILPFDHSRVILQGRDSNIPGSDYINANYIKNQLLGPDENAKT
YIASQGCLEATVNDFWQMAWQENSRVIVMTTREVEKGRNKCVPYWPEVGMQRAYGPYSVTNCGE
HDTTEYKLRTLQVSPLDNGDLIREIWHYQYLSWPDHGVPSEPGGVLSFLDQINQRQESLPHAGP
IIVHCSAGIGRTGTIIVIDMLMENISTKGLDCDIDIQKTIQMVRAQRSGMVQTEAQYKFIYVAI
AQFIETTKKKLEVLQSQKGQESEYGNITYPPAMKNAHAKASRTSSKHKEDVYENLHTKNKREEK
VKKQRSADKEKSKGSLKRK

hide 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 Domains

SH2 TYR_PHOSPHATASE_2 Tyrosine-protein phosphatase

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 Assembly	Chr	Position (strand)	Source
Build 36	12	6,925,001 - 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 Assembly	Chr	Position (strand)	Source
Build 36	12	6,930,359 - 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 Assembly	Chr	Position (strand)	Source
Build 36	12	6,930,797 - 6,930,857	EPD

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 Assembly	Chr	Position (strand)	Source
GRCh38	12	6,946,577 - 6,946,637	EPDNEW

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 Assembly	Chr	Position (strand)	Source
GRCh38	12	6,951,356 - 6,951,416	EPDNEW

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

External Database Links

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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Annotations - PID (archival)

Send us a Message

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Annotations - PID (archival)