PTN11_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
PTPN11
, PTP2C, SHPTP2
Protein names and data:
PTN11_HUMAN
, Tyrosine-protein phosphatase non-receptor type 11; 3.1.3.48
, Protein-tyrosine phosphatase 1D; PTP-1D; Protein-tyrosine phosphatase 2C; PTP-2C; SH-PTP2; SHP-2; Shp2; SH-PTP3
Lenght: 597 a.a.
Mass: 68436 Da
fasta formatted sequence
Function:
Acts downstream of various receptor and cytoplasmic protein tyrosine kinases to participate in the signal transduction from the cell surface to the nucleus. Dephosphorylates ROCK2 at Tyr-722 resulting in stimulatation of its RhoA binding activity.
Catalytic activity:
Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
Disease:
( OMIM:
151100
156250
163950
176876
607785
)
LEOPARD syndrome 1 (LEOPARD1) [MIM:151100]: A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. Note=The disease is caused by mutations affecting the gene represented in this entry. Noonan syndrome 1 (NS1) [MIM:163950]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. Some patients with NS1 develop multiple giant cell lesions of the jaw or other bony or soft tissues, which are classified as pigmented villonodular synovitis (PVNS) when occurring in the jaw or joints. Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations in PTPN11 account for more than 50% of the cases. Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. Note=The disease is caused by mutations affecting the gene represented in this entry. Metachondromatosis (MC) [MIM:156250]: A skeletal disorder with radiologic features of both multiple exostoses and Ollier disease, characterized by the presence of exostoses, commonly of the bones of the hands and feet, and enchondromas of the metaphyses of long bones and iliac crest. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm.
Tissue specificity:
Widely expressed, with highest levels in heart, brain, and skeletal muscle.
Genetic variants
2 - 2
T -> I (in NS1). VAR_027183
42 - 42
T -> A (in NS1). VAR_015601
58 - 58
N -> K (in NS1). VAR_027184
59 - 59
T -> A (in NS1). VAR_066060
60 - 60
G -> A (in NS1). VAR_015602
60 - 60
G -> V (in myelodysplastic syndrome). VAR_015990
61 - 61
D -> G (in NS1). VAR_015603
61 - 61
D -> N (in NS1). VAR_015604
61 - 61
D -> V (in JMML; also in myelodysplastic syndrome). VAR_015991
61 - 61
D -> Y (in JMML). VAR_015992
62 - 62
Y -> D (in NS1; also in Noonan patients manifesting juvenile myelomonocytic leukemia). VAR_015605
63 - 63
Y -> C (in NS1). VAR_015606
69 - 69
E -> K (in JMML; also in myelodysplastic syndrome). VAR_015993
69 - 69
E -> Q (in NS1). VAR_027185
71 - 71
F -> K (in acute myeloid leukemia; requires 2 nucleotide substitutions). VAR_015994
71 - 71
F -> L (in myelodysplastic syndrome). VAR_015995
72 - 72
A -> G (in NS1). VAR_015607
72 - 72
A -> S (in NS1). VAR_015608
72 - 72
A -> T (in JMML). VAR_015996
72 - 72
A -> V (in JMML). VAR_015997
73 - 73
T -> I (in NS1; also in Noonan patients manifesting juvenile myelomonocytic leukemia; dbSNP:rs28933387). VAR_015609
28933387
76 - 76
E -> A (in JMML; also in myelodysplastic syndrome). VAR_015998
76 - 76
E -> D (in NS1). VAR_015610
76 - 76
E -> G (in JMML). VAR_015999
76 - 76
E -> K (in JMML; dbSNP:rs28933388). VAR_016000
28933388
76 - 76
E -> V (in JMML). VAR_016001
79 - 79
Q -> P (in NS1). VAR_027186
79 - 79
Q -> R (in NS1). VAR_015611
106 - 106
D -> A (in NS1). VAR_015612
139 - 139
E -> D (in NS1). VAR_015613
256 - 256
Q -> R (in NS1). VAR_027187
279 - 279
Y -> C (in NS1 and LEOPARD1). VAR_015614
279 - 279
Y -> S (in LEOPARD1). VAR_027188
282 - 282
I -> V (in NS1). VAR_015615
285 - 285
F -> L (in NS1). VAR_015617
285 - 285
F -> S (in NS1). VAR_015616
308 - 308
N -> D (in NS1; common mutation). VAR_015619
308 - 308
N -> S (in NS1; some patients also manifest giant cell lesions of bone and soft tissue). VAR_015618
309 - 309
I -> V (in NS1). VAR_015620
415 - 415
T -> M (in NS1). VAR_027189
465 - 465
A -> T (in LEOPARD1). VAR_027190
468 - 468
G -> A (in LEOPARD1). VAR_027191
472 - 472
T -> M (in LEOPARD1). VAR_015621
502 - 502
R -> L (in LEOPARD1). VAR_027192
502 - 502
R -> W (in LEOPARD1). VAR_027193
505 - 505
R -> K (in NS1). VAR_015622
506 - 506
S -> T (in NS1). VAR_015623
507 - 507
G -> A (in JMML). VAR_016002
507 - 507
G -> R (in patients with growth retardation, pulmonic stenosis and juvenile myelomonocytic leukemia). VAR_016003
508 - 508
M -> V (in NS1). VAR_015624
510 - 510
Q -> P (in LEOPARD1). VAR_027194
510 - 510
Q -> R (in NS1). VAR_027195
514 - 514
Q -> P (in LEOPARD1). VAR_027196
564 - 564
L -> F (in NS1). VAR_027197
Database cross-references
UniProt:
Q06124
Ensembl:
ENST00000351677
Ensembl:
ENST00000392597
MIM:
151100
MIM:
156250
MIM:
163950
MIM:
176876
MIM:
607785
neXtProt:
NX_Q06124
Antibodypedia:
Q06124
(may not find the protein thus also not any antibody)
Local full text data:
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