Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	5777
Gene name	Protein tyrosine phosphatase non-receptor type 6
Gene symbol	PTPN6
Synonyms (NCBI Gene)	HCPHCPHHPTP1CPTP-1CSH-PTP1SHP-1SHP-1LSHP1
Chromosome	12
Chromosome location	12p13.31
Summary	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic tran

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs200900053	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant

Show/Hide all (26)

miRTarBase ID	miRNA	Experiments	Reference
MIRT054334	hsa-miR-1225-3p	MicroarrayqRT-PCR	23593351
MIRT1275735	hsa-miR-296-3p	CLIP-seq
MIRT1275736	hsa-miR-3150b-3p	CLIP-seq
MIRT1275737	hsa-miR-3154	CLIP-seq
MIRT1275738	hsa-miR-4434	CLIP-seq
MIRT1275739	hsa-miR-4516	CLIP-seq
MIRT1275740	hsa-miR-4699-3p	CLIP-seq
MIRT1275741	hsa-miR-4784	CLIP-seq
MIRT2604592	hsa-miR-1224-5p	CLIP-seq
MIRT2604593	hsa-miR-3065-3p	CLIP-seq
MIRT2604594	hsa-miR-3622a-3p	CLIP-seq
MIRT2604595	hsa-miR-3622b-3p	CLIP-seq
MIRT2604596	hsa-miR-3622b-5p	CLIP-seq
MIRT2604597	hsa-miR-4701-5p	CLIP-seq
MIRT2604598	hsa-miR-4751	CLIP-seq
MIRT2604599	hsa-miR-544b	CLIP-seq
MIRT2604600	hsa-miR-588	CLIP-seq
MIRT2604592	hsa-miR-1224-5p	CLIP-seq
MIRT2604593	hsa-miR-3065-3p	CLIP-seq
MIRT2604594	hsa-miR-3622a-3p	CLIP-seq
MIRT2604595	hsa-miR-3622b-3p	CLIP-seq
MIRT2604596	hsa-miR-3622b-5p	CLIP-seq
MIRT2604597	hsa-miR-4701-5p	CLIP-seq
MIRT2604598	hsa-miR-4751	CLIP-seq
MIRT2604599	hsa-miR-544b	CLIP-seq
MIRT2604600	hsa-miR-588	CLIP-seq

Show/Hide all (8)

Transcription factor	Regulation	Reference
NFKB1	Unknown	18948549
NPM1	Activation	16825495
PKNOX1	Activation	20864515
RELA	Unknown	18948549
STAT3	Repression	14630083;16825495;21792937
STAT3	Unknown	15870198
USF1	Unknown	12071971
USF2	Unknown	12071971

Show/Hide all (99)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	IBA
GO:0000165	Process	MAPK cascade	IEA
GO:0000278	Process	Mitotic cell cycle	IBA
GO:0001784	Function	Phosphotyrosine residue binding	IBA
GO:0001784	Function	Phosphotyrosine residue binding	IEA
GO:0001784	Function	Phosphotyrosine residue binding	IPI	11986327
GO:0002221	Process	Pattern recognition receptor signaling pathway	IDA	23910378
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IEA
GO:0002283	Process	Neutrophil activation involved in immune response	ISS
GO:0002753	Process	Cytoplasmic pattern recognition receptor signaling pathway	IDA	29441066
GO:0002924	Process	Negative regulation of humoral immune response mediated by circulating immunoglobulin	IEA
GO:0004721	Function	Phosphoprotein phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	IDA	17562706, 29925997
GO:0004725	Function	Protein tyrosine phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	IMP	10206955, 17562706, 19749791
GO:0004725	Function	Protein tyrosine phosphatase activity	TAS
GO:0004726	Function	Non-membrane spanning protein tyrosine phosphatase activity	IBA
GO:0005001	Function	Transmembrane receptor protein tyrosine phosphatase activity	IDA	11266449
GO:0005515	Function	Protein binding	IPI	7228577, 7528537, 7528577, 8114715, 8574854, 8577729, 8627166, 8648092, 8691146, 8691154, 9148918, 9285411, 9603468, 9774457, 9842885, 10206955, 10540326, 10556798, 10660620, 10764762, 10887109, 11489943, 11907092, 12051764, 16254138, 16339535, 16493035, 17416557, 17562706, 17947393
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IDA	19838216
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	9065461
GO:0005737	Component	Cytoplasm	IDA	10940933, 19838216
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	23896411
GO:0005911	Component	Cell-cell junction	IEA
GO:0006470	Process	Protein dephosphorylation	IDA	11266449
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	7781604
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	19749791, 19838216
GO:0008285	Process	Negative regulation of cell population proliferation	NAS	10497187
GO:0016020	Component	Membrane	TAS	10506221
GO:0016525	Process	Negative regulation of angiogenesis	IDA	23896411
GO:0016787	Function	Hydrolase activity	IEA
GO:0017124	Function	SH3 domain binding	IEA
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	9285411, 18802077
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0019901	Function	Protein kinase binding	IPI	11266449
GO:0030154	Process	Cell differentiation	IBA
GO:0030154	Process	Cell differentiation	IDA	11266449
GO:0030220	Process	Platelet formation	IEA
GO:0031295	Process	T cell costimulation	IEA
GO:0031295	Process	T cell costimulation	TAS
GO:0031665	Process	Negative regulation of lipopolysaccharide-mediated signaling pathway	IEA
GO:0031665	Process	Negative regulation of lipopolysaccharide-mediated signaling pathway	ISS
GO:0032715	Process	Negative regulation of interleukin-6 production	IEA
GO:0032715	Process	Negative regulation of interleukin-6 production	ISS
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IEA
GO:0032720	Process	Negative regulation of tumor necrosis factor production	ISS
GO:0032991	Component	Protein-containing complex	IMP	17562706
GO:0033007	Process	Negative regulation of mast cell activation involved in immune response	IEA
GO:0033630	Process	Positive regulation of cell adhesion mediated by integrin	IEA
GO:0035335	Process	Peptidyl-tyrosine dephosphorylation	IMP	17562706
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035580	Component	Specific granule lumen	TAS
GO:0035855	Process	Megakaryocyte development	IEA
GO:0042098	Process	T cell proliferation	IEA
GO:0042105	Component	Alpha-beta T cell receptor complex	IEA
GO:0042110	Process	T cell activation	IDA	38354704
GO:0042110	Process	T cell activation	IDA	38354704
GO:0042130	Process	Negative regulation of T cell proliferation	IEA
GO:0042169	Function	SH2 domain binding	IEA
GO:0042267	Process	Natural killer cell mediated cytotoxicity	IEA
GO:0042981	Process	Regulation of apoptotic process	TAS	10506221
GO:0043409	Process	Negative regulation of MAPK cascade	IEA
GO:0045577	Process	Regulation of B cell differentiation	IEA
GO:0045766	Process	Positive regulation of angiogenesis	IDA	23896411
GO:0045824	Process	Negative regulation of innate immune response	IDA	34811497
GO:0050839	Function	Cell adhesion molecule binding	IEA
GO:0050852	Process	T cell receptor signaling pathway	IEA
GO:0050853	Process	B cell receptor signaling pathway	IEA
GO:0050859	Process	Negative regulation of B cell receptor signaling pathway	IDA	35941532
GO:0050860	Process	Negative regulation of T cell receptor signaling pathway	IEA
GO:0051279	Process	Regulation of release of sequestered calcium ion into cytosol	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	19838216
GO:0060338	Process	Regulation of type I interferon-mediated signaling pathway	IEA
GO:0060338	Process	Regulation of type I interferon-mediated signaling pathway	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337
GO:0070372	Process	Regulation of ERK1 and ERK2 cascade	IDA	11266449
GO:0070527	Process	Platelet aggregation	IEA
GO:0090594	Process	Inflammatory response to wounding	IDA	27830702
GO:0106015	Process	Negative regulation of inflammatory response to wounding	IDA	27830702
GO:0106015	Process	Negative regulation of inflammatory response to wounding	IEA
GO:0140031	Function	Phosphorylation-dependent protein binding	IPI	11162587, 12163025
GO:0160162	Process	CD27 signaling pathway	IDA	38354704
GO:0160162	Process	CD27 signaling pathway	IDA	38354704
GO:1900017	Process	Positive regulation of cytokine production involved in inflammatory response	IDA	8654373
GO:1902564	Process	Negative regulation of neutrophil activation	IDA	34234773
GO:1902564	Process	Negative regulation of neutrophil activation	IEA
GO:1904724	Component	Tertiary granule lumen	TAS
GO:1905867	Process	Epididymis development	IEA
GO:2000045	Process	Regulation of G1/S transition of mitotic cell cycle	IMP	19838216

MIM	HGNC	e!Ensembl
176883	9658	ENSG00000111679

P29350

Protein name

Tyrosine-protein phosphatase non-receptor type 6 (EC 3.1.3.48) (Hematopoietic cell protein-tyrosine phosphatase) (Protein-tyrosine phosphatase 1C) (PTP-1C) (Protein-tyrosine phosphatase SHP-1) (SH-PTP1)

Protein function

Tyrosine phosphatase enzyme that plays important roles in controlling immune signaling pathways and fundamental physiological processes such as hematopoiesis (PubMed:14739280, PubMed:29925997). Dephosphorylates and negatively regulate several re

PDB

1FPR , 1GWZ , 1X6C , 2B3O , 2RMX , 2YU7 , 3PS5 , 4GRY , 4GRZ , 4GS0 , 4HJP , 4HJQ , 6SM5 , 8YHI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00017	SH2	4 → 79	SH2 domain	Domain
PF00017	SH2	110 → 194	SH2 domain	Domain
PF00102	Y_phosphatase	270 → 514	Protein-tyrosine phosphatase	Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform 1 is expressed in hematopoietic cells. Isoform 2 is expressed in non-hematopoietic cells. {ECO:0000269|PubMed:1732748}.

Sequence

MVRWFHRDLSGLDAETLLKGRGVHGSFLARPSRKNQGDFSLSVRVGDQVTHIRIQNSGDF
YDLYGGEKFATLTELVEYYTQQQGVLQDRDGTIIHLKYPLNCSDPTSERWYHGHMSGGQA
ETLLQAKGEPWTFLVRESLSQPGDFVLSVLSDQPKAGPGSPLRVTHIKVMCEGGRYTVGG
LETFDSLTDLVEHFKKTGIEEASGAFVYLRQPYYATRVNAADIENRVLELNKKQESEDTA
KAGFWEEFESLQKQEVKNLHQRLEGQRPENKGKNRYKNILPFDHSRVILQGRDSNIPGSD
YINANYIKNQLLGPDENAKTYIASQGCLEATVNDFWQMAWQENSRVIVMTTREVEKGRNK
CVPYWPEVGMQRAYGPYSVTNCGEHDTTEYKLRTLQVSPLDNGDLIREIWHYQYLSWPDH
GVPSEPGGVLSFLDQINQRQESLPHAGPIIVHCSAGIGRTGTIIVIDMLMENISTKGLDC
DIDIQKTIQMVRAQRSGMVQTEAQYKFIYVAIAQFIETTKKKLEVLQSQKGQESEYGNIT
YPPAMKNAHAKASRTSSKHKEDVYENLHTKNKREEKVKKQRSADKEKSKGSLKRK

Sequence length

595

Interactions

View interactions

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autism spectrum disorder	Uncertain significance	rs2542726421	RCV003127292
Cervical cancer	Benign	rs182198998	RCV005902562
Malignant tumor of esophagus	Benign	rs182198998	RCV005902561
Ovarian serous cystadenocarcinoma	Benign	rs182198998	RCV005902563

Show/Hide Text Mining Associations (64)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	33839701
Alzheimer Disease	Associate	39336795
Arthritis Rheumatoid	Associate	37426641
Asthma	Associate	22371396
Ataxia Telangiectasia	Associate	12591278
Autoimmune Diseases	Inhibit	22458980
Autoimmune Diseases	Associate	31616406
Breast Neoplasms	Associate	21719561, 23938089, 23948750, 35045088
Burkitt Lymphoma	Associate	32449435
Carcinogenesis	Associate	20424160
Carcinoma	Stimulate	21719561
Carcinoma Non Small Cell Lung	Associate	23842094
Castleman Disease	Associate	29496669
Colorectal Neoplasms	Associate	29693170
Cystic Fibrosis	Associate	35782124
Demyelinating Autoimmune Diseases CNS	Associate	19398961, 19559654
Demyelinating Diseases	Associate	18209728, 19398961
Fibrosis	Inhibit	29097680
Fibrosis	Associate	32434445
GATA2 Deficiency	Inhibit	11583976
GATA2 Deficiency	Associate	25614448, 32732362
Glioma	Associate	24510345
Hashimoto Disease	Associate	34522174
Hematologic Neoplasms	Associate	17540846
Hematologic Neoplasms	Inhibit	18948549, 22960265
HTLV I Infections	Associate	9520455
Inflammation	Associate	18209728, 19398961, 19559654, 22458980, 32434445, 37045900
Kidney Failure Chronic	Associate	30212930
Leukemia	Inhibit	11583976
Leukemia Lymphocytic Chronic B Cell	Associate	26053404
Leukemia Lymphocytic Chronic B Cell	Inhibit	28480959
Leukemia Lymphoma Adult T Cell	Inhibit	17540846
Leukemia Lymphoma Adult T Cell	Associate	29794791
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	21821701
Leukemia Myeloid Acute	Associate	15574429, 26547689, 40255396
Leukemia Prolymphocytic T Cell	Associate	31974418
Leukemia Promyelocytic Acute	Associate	8197173
Leukemia T Cell	Inhibit	12591278
Lymphoma Large B Cell Diffuse	Associate	23979523, 26565811
Lymphoma Large Cell Anaplastic	Associate	16469875
Lymphoma T Cell Cutaneous	Associate	29794791
Lymphoma T Cell Peripheral	Associate	30420593
Lymphoproliferative Disorders	Associate	12429820
Monoclonal Gammopathy of Undetermined Significance	Associate	17213358
Multi centric Castleman's Disease	Associate	29496669
Multiple Myeloma	Associate	17213358, 19147543, 19937797, 26545722
Multiple Sclerosis	Inhibit	18209728, 19398961, 22458980
Multiple Sclerosis	Associate	19398961, 19559654
Myelodysplastic Syndromes	Associate	15541478, 15953006
Neoplasms	Associate	11583976, 12591278, 16469875, 20068065, 23979523, 24100145, 24838641, 26565811, 28480959, 29794791, 39367146
Neoplasms	Inhibit	17540846, 18948549, 20424160, 26547689
Neoplasms	Stimulate	32454905
Nervous System Diseases	Associate	18209728
Pdgfrb Associated Chronic Eosinophilic Leukemia	Associate	18318760
Plaque Atherosclerotic	Stimulate	26742467
Polyradiculoneuropathy Chronic Inflammatory Demyelinating	Associate	18209728
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	18318760
Prostatitis	Associate	11836342
Pseudolymphoma	Associate	11583976
Stomach Neoplasms	Associate	24838641, 26508024
Testicular Germ Cell Tumor	Associate	39367146
Urethral Neoplasms	Associate	33200223
Urinary Bladder Neoplasms	Associate	32454905, 36211821
Vitiligo	Associate	28129744

PTPN6 (protein tyrosine phosphatase non-receptor type 6)