Difference between revisions of "Phosphatase Subfamily PTPN12"

From PhosphataseWiki
Jump to: navigation, search
(Created page with "__NOTOC__ Phosphatase Classification: Fold CC1:Superfamily CC1: Phosphatase_Family_P...")
 
Line 1: Line 1:
 
__NOTOC__
 
__NOTOC__
  
−
[[Phosphatase classification|Phosphatase Classification]]: [[Phosphatase_Fold_CC1|Fold CC1]]:[[Phosphatase_Superfamily_CC1|Superfamily CC1]]: [[Phosphatase_Family_PTP|Family PTP]]: [[Phosphatase_Subfamily_PTPN12|Subfamily PTPN12]]
+
[[Phosphatase classification|Phosphatase Classification]]: [[Phosphatase_Fold_CC1|Fold CC1]]:[[Phosphatase_Superfamily_CC1|Superfamily CC1]]: [[Phosphatase_Family_PTP|Family PTP]]: [[Phosphatase_Subfamily_PTPN12|Subfamily PTPN12]] (PTP-PEST)
  
  
Line 11: Line 11:
  
 
===Functions===
 
===Functions===
 +
===== PTPN12 (PTP-PEST/PTPG1) =====
 +
PTPN12 is widely expressed in different tissues and at relatively low level in brain ([http://www.gtexportal.org/home/gene/PTPN12 GTEx]).
  
 +
===== PTPN18 (BDP1/PTP-HSCF) =====
 +
PTPN18 is most abundantly expressed in spleen ([http://www.gtexportal.org/home/gene/PTPN18 GTEx]).
 +
 +
===== PTPN22 (LYP/PEP/PTPN8) =====
 +
PTPN22 is expressed in certain tissues and cell types, including EBV-transformed lymphocytes, whole blood, spleen and small intestine - terminal ileum ([http://www.gtexportal.org/home/gene/PTPN22 GTEx]).
 +
 +
PTPN22 locus with autoimmune diseases <cite>Criswell05, Bottini06, Stanford14</cite>. In particular, missense single-nucleotide polymorphism (SNP) R620W is associated with rheumatoid arthritis (RA) <cite>Begovich04, Plenge05, Orozco05</cite>, systemic lupus erythematosus (SLE) <cite>Kyogoku04, Smyth04, Orozco05</cite>, type 1 diabetes (T1D) <cite>Criswell05</cite>, Hashimoto thyroiditis <cite>Criswell05</cite>,  juvenile idiopathic arthritis (JIA) <cite>Lee07</cite>, Grave's disease (GD) <cite>Lee07</cite>. However, multiple sclerosis (MS) did not show association with R620W <cite>Criswell05</cite>.
  
 
===References===
 
===References===
 
<biblio>
 
<biblio>
−
 
+
#Begovich04 pmid=15208781
 +
#Bottini06 pmid=16697661
 +
#Criswell05 pmid=15719322
 +
#Kyogoku04 pmid=15273934
 +
#Lee07 pmid=16760194
 +
#Orozco05 pmid=15641066
 +
#Plenge05 pmid=16380915
 +
#Smyth04 pmid=15504986
 +
#Stanford14 pmid=25003765
 
</biblio>
 
</biblio>

Revision as of 15:03, 12 March 2015


Phosphatase Classification: Fold CC1:Superfamily CC1: Family PTP: Subfamily PTPN12 (PTP-PEST)


Evolution

Domain

Functions

PTPN12 (PTP-PEST/PTPG1)

PTPN12 is widely expressed in different tissues and at relatively low level in brain (GTEx).

PTPN18 (BDP1/PTP-HSCF)

PTPN18 is most abundantly expressed in spleen (GTEx).

PTPN22 (LYP/PEP/PTPN8)

PTPN22 is expressed in certain tissues and cell types, including EBV-transformed lymphocytes, whole blood, spleen and small intestine - terminal ileum (GTEx).

PTPN22 locus with autoimmune diseases [1, 2, 3]. In particular, missense single-nucleotide polymorphism (SNP) R620W is associated with rheumatoid arthritis (RA) [4, 5, 6], systemic lupus erythematosus (SLE) [6, 7, 8], type 1 diabetes (T1D) [1], Hashimoto thyroiditis [1], juvenile idiopathic arthritis (JIA) [9], Grave's disease (GD) [9]. However, multiple sclerosis (MS) did not show association with R620W [1].

References

  1. Criswell LA, Pfeiffer KA, Lum RF, Gonzales B, Novitzke J, Kern M, Moser KL, Begovich AB, Carlton VE, Li W, Lee AT, Ortmann W, Behrens TW, and Gregersen PK. Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. Am J Hum Genet. 2005 Apr;76(4):561-71. DOI:10.1086/429096 | PubMed ID:15719322 | HubMed [Criswell05]
  2. Bottini N, Vang T, Cucca F, and Mustelin T. Role of PTPN22 in type 1 diabetes and other autoimmune diseases. Semin Immunol. 2006 Aug;18(4):207-13. DOI:10.1016/j.smim.2006.03.008 | PubMed ID:16697661 | HubMed [Bottini06]
  3. Stanford SM and Bottini N. PTPN22: the archetypal non-HLA autoimmunity gene. Nat Rev Rheumatol. 2014 Oct;10(10):602-11. DOI:10.1038/nrrheum.2014.109 | PubMed ID:25003765 | HubMed [Stanford14]
  4. Begovich AB, Carlton VE, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC, Ardlie KG, Huang Q, Smith AM, Spoerke JM, Conn MT, Chang M, Chang SY, Saiki RK, Catanese JJ, Leong DU, Garcia VE, McAllister LB, Jeffery DA, Lee AT, Batliwalla F, Remmers E, Criswell LA, Seldin MF, Kastner DL, Amos CI, Sninsky JJ, and Gregersen PK. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet. 2004 Aug;75(2):330-7. DOI:10.1086/422827 | PubMed ID:15208781 | HubMed [Begovich04]
  5. Plenge RM, Padyukov L, Remmers EF, Purcell S, Lee AT, Karlson EW, Wolfe F, Kastner DL, Alfredsson L, Altshuler D, Gregersen PK, Klareskog L, and Rioux JD. Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4. Am J Hum Genet. 2005 Dec;77(6):1044-60. DOI:10.1086/498651 | PubMed ID:16380915 | HubMed [Plenge05]
  6. Orozco G, Sánchez E, González-Gay MA, López-Nevot MA, Torres B, Cáliz R, Ortego-Centeno N, Jiménez-Alonso J, Pascual-Salcedo D, Balsa A, de Pablo R, Nuñez-Roldan A, González-Escribano MF, and Martín J. Association of a functional single-nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus. Arthritis Rheum. 2005 Jan;52(1):219-24. DOI:10.1002/art.20771 | PubMed ID:15641066 | HubMed [Orozco05]
  7. Kyogoku C, Langefeld CD, Ortmann WA, Lee A, Selby S, Carlton VE, Chang M, Ramos P, Baechler EC, Batliwalla FM, Novitzke J, Williams AH, Gillett C, Rodine P, Graham RR, Ardlie KG, Gaffney PM, Moser KL, Petri M, Begovich AB, Gregersen PK, and Behrens TW. Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet. 2004 Sep;75(3):504-7. DOI:10.1086/423790 | PubMed ID:15273934 | HubMed [Kyogoku04]
  8. Smyth D, Cooper JD, Collins JE, Heward JM, Franklyn JA, Howson JM, Vella A, Nutland S, Rance HE, Maier L, Barratt BJ, Guja C, Ionescu-Tîrgoviste C, Savage DA, Dunger DB, Widmer B, Strachan DP, Ring SM, Walker N, Clayton DG, Twells RC, Gough SC, and Todd JA. Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus. Diabetes. 2004 Nov;53(11):3020-3. DOI:10.2337/diabetes.53.11.3020 | PubMed ID:15504986 | HubMed [Smyth04]
  9. Lee YH, Rho YH, Choi SJ, Ji JD, Song GG, Nath SK, and Harley JB. The PTPN22 C1858T functional polymorphism and autoimmune diseases--a meta-analysis. Rheumatology (Oxford). 2007 Jan;46(1):49-56. DOI:10.1093/rheumatology/kel170 | PubMed ID:16760194 | HubMed [Lee07]
All Medline abstracts: PubMed | HubMed
Retrieved from "http://phosphatome.net/wiki/index.php?title=Phosphatase_Subfamily_PTPN12&oldid=1804"