Difference between revisions of "Phosphatases and Diseases"

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__NOTOC__
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[[Main_Page|Main]]: [[Phosphatases_and_Diseases|Phosphatases and Diseases]]
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Phosphatases co-regulate most biological processes with kinases, and like kinases, when dysregulation or mutation of phosphatases leads to a wide variety of diseases.
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Table of phosphatase disease associations, taken from our 2017 phosphatome publication <cite>Chen</cite>:
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{|
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|  ||  ||  ||  ||  ||  ||  ||  || Cancer ||  ||  ||  ||  ||
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|-
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| Gene Symbol || Entrez Gene ID || Fold || Family || Subfamily || Hamosh et al. (2005) - OMIM || Landrum et al. (2014) - ClinVar || Yip et al. (2008) - Humsavar || Futreal et al. (2004) - Cancer gene census || Gonzalez-Perez et al. (2013) Cancer Driver Gene || Tamborero et al. (2013) Cancer Driver Gene  || Kandoth et al. (2013) Signficantly Mutated Genes || Davoli et al. (2013) - Tumor Suppressor || Davoli et al. (2013) - Oncogene
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|-
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| ALPL || 249 || AP || AP || AP || Yes. Adult hypophosphatasia; Infantile hypophosphatasia; Childhood hypophosphatasia || Yes. Childhood hypophosphatasia [MedGen:C0220743], Infantile hypophosphatasia [MedGen:C0268412], Adult hypophosphatasia [MedGen:C0268413], Odontohypophosphatasia [MedGen:C1840322], [OMIM:146300], [OMIM:241500], [OMIM:241510], [SNOMEDCT:20756002], [SNOMEDCT:30174008], [SNOMEDCT:55236002] || Yes: Hypophosphatasia (HOPS) [MIM:146300] || No || No || No || No || No || No
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|-
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| CDKN3 || 1033 || CC1 || DSP || CDKN3 || No || No || Yes: Hepatocellular carcinoma (HCC) [MIM:114550] || No || No || No || No || No || No
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|-
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| DUSP6 || 1848 || CC1 || DSP || DSP6 || Yes. Hypogonadotropic hypogonadism 19 with or without anosmia || Yes. [MedGen:CN170855], [OMIM:615269], [Orphanet:ORPHA478] || Yes: Hypogonadotropic hypogonadism 19 with or without anosmia (HH19) [MIM:615269] || No || No || No || No || No || No
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|-
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| DUSP16 || 80824 || CC1 || DSP || DSP8 || No || No || No || No || No || No || No || Yes || No
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|-
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| Laforin || 7957 || CC1 || DSP || Laforin || Yes. Lafora disease || Yes. Lafora disease [MedGen:C0751783], [OMIM:254780], [Orphanet:ORPHA501], [SNOMEDCT:230425004] || Yes: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] || No || No || No || No || No || No
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|-
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| MTM1 || 4534 || CC1 || Myotubularin || MTMR1 || Yes. Severe X-linked myotubular myopathy || Yes. Severe X-linked myotubular myopathy [MedGen:C0410203], [OMIM:310400], [Orphanet:ORPHA596], [SNOMEDCT:46804001] || Yes: Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] || No || No || Yes || No || No || No
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|-
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| MTMR2 || 8898 || CC1 || Myotubularin || MTMR1 || Yes. Charcot-Marie-Tooth disease, type 4B1 || Yes. Charcot-Marie-Tooth disease, type 4B1 [MedGen:C1832399], [OMIM:601382], [Orphanet:ORPHA99955] || Yes: Charcot-Marie-Tooth disease 4B1 (CMT4B1) [MIM:601382] || No || No || No || No || No || No
 +
|-
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| MTMR14 || 64419 || CC1 || Myotubularin || MTMR14 || Yes. Myopathy, centronuclear, 1 || No || Yes: Myopathy, centronuclear, 1 (CNM1) [MIM:160150] || No || No || No || No || No || No
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|-
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| SBF1 || 6305 || CC1 || Myotubularin || MTMR5 || Yes. Charcot-Marie-Tooth disease, type 4B3 || Yes. Charcot-Marie-Tooth disease, type 4B3 [MedGen:CN177020], [OMIM:615284], [Orphanet:ORPHA363981] || No || No || No || No || No || No || No
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|-
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| SBF2 || 81846 || CC1 || Myotubularin || MTMR5 || Yes. Charcot-Marie-Tooth disease, type 4B2 || Yes. Charcot-Marie-Tooth disease, type 4B2 [MedGen:C1858278], Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma [MedGen:C1858280], [OMIM:604563], [Orphanet:ORPHA99956] || No || No || No || No || No || No || No
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|-
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| DNAJC6 || 9829 || CC1 || PTEN || Auxilin || Yes. Parkinson disease 19, juvenile-onset || Yes.  Parkinson disease 19, juvenile-onset [MedGen:CN181757], [OMIM:615528], [Orphanet:ORPHA391411] || No || No || No || No || No || No || No
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|-
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| PTEN || 5728 || CC1 || PTEN || PTEN || Yes. Bannayan-Riley-Ruvalcaba syndrome; Cutaneous malignant melanoma 1; Cowden syndrome 1; Malignant tumor of prostate; Thyroid cancer, follicular; Squamous cell carcinoma of the head and neck; Vacterl association with hydrocephalus; Macrocephaly/autism syndrome; Meningioma, familial; Endometrial carcinoma; Glioma susceptibility 2 || Yes. Cowden syndrome [MedGen:C0018553], Meningioma [MedGen:C0025286], Bannayan-Riley-Ruvalcaba syndrome [MedGen:C0265326], Lhermitte-Duclos disease [MedGen:C0391826], Endometrial carcinoma [MedGen:C0476089], Macrocephaly/autism syndrome [MedGen:C1854416], PTEN hamartoma tumor syndrome with granular cell tumor [MedGen:C1866376], Proteus-like syndrome [MedGen:C1866398], PTEN hamartoma tumor syndrome [MedGen:C1959582], Vater association with macrocephaly and ventriculomegaly [MedGen:C2749240], Glioma susceptibility 2 [MedGen:C2751642], [OMIM:153480], [OMIM:158350], [OMIM:605309], [OMIM:608089], [OMIM:613028], [Orphanet:ORPHA109], [Orphanet:ORPHA210548], [SNOMEDCT:254878006], [SNOMEDCT:58037000] || No || Tumor suppressor || Yes || Yes || Yes || Yes || No
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|-
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| PTPN1 || 5770 || CC1 || PTP || PTPN1 || Yes. Diabetes mellitus type 2 || No || No || No || No || No || No || No || No
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|-
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| PTPN22 || 26191 || CC1 || PTP || PTPN12 || Yes. Systemic lupus erythematosus; Rheumatoid arthritis; Diabetes mellitus type 1 || No || No || No || No || No || No || No || No
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|-
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| PTPN13 || 5783 || CC1 || PTP || PTPN13 || No || No || No || No || No || Yes || No || No || No
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|-
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| PTPN14 || 5784 || CC1 || PTP || PTPN14 || Yes. Choanal atresia and lymphedema || Yes. Choanal atresia and lymphedema [MedGen:C3150875], [OMIM:613611] || No || No || No || No || No || No || No
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|-
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| PTPN11 || 5781 || CC1 || PTP || PTPN6 || Yes. LEOPARD syndrome 1; Metachondromatosis; Noonan syndrome 1; Juvenile myelomonocytic leukemia || Yes. Noonan syndrome [MedGen:C0028326], Noonan syndrome 1 [MedGen:C0041409], LEOPARD syndrome [MedGen:C0175704], Juvenile myelomonocytic leukemia [MedGen:C0349639], Metachondromatosis [MedGen:C0410530], LEOPARD syndrome 1 [MedGen:CN074218], Rasopathy [MedGen:CN166718], [OMIM:151100], [OMIM:156250], [OMIM:163950], [OMIM:607785], [Orphanet:ORPHA2499], [Orphanet:ORPHA500], [Orphanet:ORPHA648], [Orphanet:ORPHA86834], [SNOMEDCT:205481009], [SNOMEDCT:205824006] || No || Oncogene || Yes || Yes || Yes || No || Yes
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|-
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| PTPRB || 5787 || CC1 || PTP || PTPRB || No || No || No || Tumor suppressor || No || No || No || No || No
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|-
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| PTPRO || 5800 || CC1 || PTP || PTPRB || Yes. Nephrotic syndrome, type 6 || Yes. Nephrotic syndrome, type 6 [MedGen:C3280100], [OMIM:614196], [Orphanet:ORPHA656] || No || No || No || No || No || No || No
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|-
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| PTPRQ || 374462 || CC1 || PTP || PTPRB || Yes. Deafness, autosomal recessive 84 || Yes. Deafness, autosomal recessive 84 [MedGen:C3150654], [OMIM:613391], [Orphanet:ORPHA90636] || No || No || No || No || No || No || No
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|-
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| PTPRC || 5788 || CC1 || PTP || PTPRC || Yes. Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive; Hepatitis c virus, susceptibility to || Yes. Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [MedGen:C1837028], [OMIM:608971] || No || Tumor suppressor || No || No || No || No || No
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|-
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| PTPRF || 5792 || CC1 || PTP || PTPRD || Yes. Breasts and/or nipples, aplasia or hypoplasia of, 2 || No || No || No || No || No || No || No || No
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|-
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| PTPRZ1 || 5803 || CC1 || PTP || PTPRG || Yes. Helicobacter pylori infection, susceptibility to || No || No || No || No || No || No || No || No
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|-
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| PTPRK || 5796 || CC1 || PTP || PTPRK || No || No || No || Oncogene || Yes || No || No || Yes || No
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|-
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| FIG4 || 9896 || CC1 || Sac || FIG4 || Yes. Yunis Varon syndrome; Charcot-Marie-Tooth disease, type 4J; Amyotrophic lateral sclerosis type 11; Polymicrogyria, bilateral occipital || Yes. Yunis Varon syndrome [MedGen:C1857663], Charcot-Marie-Tooth disease, type 4J [MedGen:C1970011], Amyotrophic lateral sclerosis type 11 [MedGen:C2675491], [OMIM:216340], [OMIM:611228], [OMIM:612577], [Orphanet:ORPHA139515], [Orphanet:ORPHA3472], [Orphanet:ORPHA803] || Yes: Charcot-Marie-Tooth disease 4J (CMT4J) [MIM:611228]; Amyotrophic lateral sclerosis 11 (ALS11) [MIM:612577]; Yunis-Varon syndrome (YVS) [MIM:216340]; Polymicrogyria, bilateral temporooccipital (BTOP) [MIM:612691] || No || No || No || No || No || No
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|-
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| SYNJ1 || 8867 || CC1 || Sac || Synaptojanin || Yes. Parkinson disease 20, early-onset || Yes. [MedGen:CN181760], [OMIM:615530], [Orphanet:ORPHA391411] || No || No || No || No || No || No || No
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|-
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| EYA1 || 2138 || HAD || EYA || EYA || Yes. Melnick-Fraser syndrome; Otofaciocervical syndrome; Branchiootic syndrome || Yes. Melnick-Fraser syndrome [MedGen:C0265234], Otofaciocervical syndrome [MedGen:C1833691], Branchiootic syndrome [MedGen:C1865143], [OMIM:113650], [OMIM:166780], [OMIM:602588], [Orphanet:ORPHA107], [SNOMEDCT:290006] || Yes: Branchiootorenal syndrome 1 (BOR1) [MIM:113650]; Anterior segment anomalies with or without cataract (ASA) [MIM:602588]; Branchiootic syndrome 1 (BOS1) [MIM:602588] || No || No || No || No || No || No
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|-
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| EYA4 || 2070 || HAD || EYA || EYA || Yes. Deafness, autosomal dominant 10; Dilated cardiomyopathy 1J || Yes. Deafness, autosomal dominant 10 [MedGen:C1832476], Dilated cardiomyopathy 1J [MedGen:C1854368], [OMIM:601316], [OMIM:605362], [Orphanet:ORPHA217622], [Orphanet:ORPHA90635] || Yes: Deafness, autosomal dominant, 10 (DFNA10) [MIM:601316] || No || No || No || No || No || No
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|-
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| Dullard || 23399 || HAD || FCP || DULLARD || No || No || No || No || Yes || No || No || Yes || No
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|-
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| FCP1 || 9150 || HAD || FCP || FCP1 || Yes. Congenital Cataracts, Facial Dysmorphism, and Neuropathy || Yes. Congenital Cataracts, Facial Dysmorphism, and Neuropathy [MedGen:C1858726], [OMIM:604168], [Orphanet:ORPHA48431] || No || No || No || No || No || No || No
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|-
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| CECR5 || 27440 || HAD || NagD || CUT || No || No || No || No || Yes || No || No || No || No
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|-
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| BPGM || 669 || HP || HP1 || PGAM || Yes. Deficiency of bisphosphoglycerate mutase || Yes. Deficiency of bisphosphoglycerate mutase [MedGen:C1291620], [OMIM:222800], [SNOMEDCT:124678007] || Yes: Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800] || No || No || No || No || No || No
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|-
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| PGAM2 || 5224 || HP || HP1 || PGAM || Yes. Glycogen storage disease type X || Yes. Glycogen storage disease type X [MedGen:C0268149], [OMIM:261670], [Orphanet:ORPHA97234], [SNOMEDCT:37666005] || Yes: Glycogen storage disease 10 (GSD10) [MIM:261670] || No || No || No || No || No || No
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|-
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| ACP2 || 53 || HP || HP2 || ACP2 || Yes. Acid phosphatase deficiency || No || No || No || No || No || No || No || No
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|-
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| MINPP1 || 9562 || HP || HP2 || MINPP1 || Yes. Thyroid cancer, follicular || Yes. Thyroid cancer, follicular [MedGen:C0206682], [OMIM:188470], [Orphanet:ORPHA146] || No || No || No || No || No || No || No
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|-
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| PDP1 || 54704 || PPM || PPM || PDPc || Yes. Pyruvate dehydrogenase phosphatase deficiency || Yes. Pyruvate dehydrogenase phosphatase deficiency [MedGen:C1837429], [OMIM:608782], [Orphanet:ORPHA765], [Orphanet:ORPHA79246] || No || No || No || No || No || No || No
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|-
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| PPM1D || 8493 || PPM || PPM || PPM1D || Yes. Familial cancer of breast || No || No || No || No || No || No || Yes || No
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|-
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| PPM1K || 152926 || PPM || PPM || PPM1K || Yes. Maple syrup urine disease, mild variant || Yes. [MedGen:CN168515], [OMIM:615135], [Orphanet:ORPHA268162], [Orphanet:ORPHA511] || No || No || No || No || No || No || No
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|-
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| ACP5 || 54 || PPPL || PAP || ACP5 || Yes. Spondyloenchondrodysplasia with immune dysregulation || Yes. Spondyloenchondrodysplasia with immune dysregulation [MedGen:C1842763], [OMIM:607944] || Yes: Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] || No || No || No || No || No || No
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|-
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| PPP6C || 5537 || PPPL || PPP || PPP6C || No || No || No || Oncogene || No || No || No || No || Yes
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|}
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== Cancer ==
 
== Cancer ==
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==== PTPRA ====
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A PTPRA splice mutant activated Src is found in human tumours <cite>Huang11</cite>.
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==== [[Phosphatase_Gene_PTEN|PTEN]] ====
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==== [[Phosphatase_Gene_PTPN11|PTPN11]] (SHP2) ====
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==== [[Phosphatase_Gene_PTPRC|PTPRC]] (CD45) ====
  
 
==== [[Phosphatase_Gene_DUSP3|DUSP3]] (VHR)====
 
==== [[Phosphatase_Gene_DUSP3|DUSP3]] (VHR)====
Line 9: Line 114:
 
==== [[Phosphatase_Family_PPM#PPM1D|PPM1D]] (WIP1) ====
 
==== [[Phosphatase_Family_PPM#PPM1D|PPM1D]] (WIP1) ====
 
PPM1D as a frequent target of somatic mutation and as a potential therapeutic target in brainstem gliomas <cite>yan14</cite>.
 
PPM1D as a frequent target of somatic mutation and as a potential therapeutic target in brainstem gliomas <cite>yan14</cite>.
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==== [[Phosphatase_Subfamily_PTPRG|PTPRZ1]] ====
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PTPRZ1-MET (ZM) fusion protein induces gliomas through elevated expression and phosphorylation of the MET oncoprotein <cite>Chen15></cite>. The fusion protein is found in human gliomas by high-throughput sequencing.
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== Parkinson's disease ==
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==== [[Phosphatase_Gene_DNAJC6|DNAJC6]] ====
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See [http://omim.org/entry/608375 OMIM].
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== Other diseases ==
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==== [[Phosphatase_Subfamily_MTMR3|MTMR3]]: Inflammatory bowel disease (IBD) ====
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The rs713875 IBD risk polymorphism increases MTMR3 expression.
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==== [[Phosphatase_Gene_PDP1|PDP1]]: pyruvate dehydrogenase (PDH) deficiency ====
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See [http://omim.org/entry/608782 OMIM].
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==== [[Phosphatase_Gene_SBF1|SBF1]]: Charcot-Marie-Tooth disease ====
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See [http://omim.org/entry/603560 OMIM].
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==== [[Phosphatase_Gene_PPM1K|PPM1K]]: maple syrup urine disease ====
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See [http://omim.org/entry/611065 OMIM].
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==== [[Phosphatase_Gene_MTMR14|MTMR14]]: [http://en.wikipedia.org/wiki/Centronuclear_myopathy centronuclear myopathy] ====
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See [http://omim.org/entry/160150 OMIM].
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==== [[Phosphatase_Gene_PTPRQ|PTPRQ]]: deafness ====
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See [http://omim.org/entry/603317 OMIM].
  
 
== References ==
 
== References ==
 
<biblio>
 
<biblio>
 +
#Chen pmid=28400531
 +
#Chen15 pmid=25935522
 +
#Huang11 pmid=21725282
 
#Rahmouni14 pmid=24886454
 
#Rahmouni14 pmid=24886454
 
#yangj10 pmid=20562916
 
#yangj10 pmid=20562916
 
#yan14 pmid=24880341
 
#yan14 pmid=24880341
 
</biblio>
 
</biblio>

Latest revision as of 16:05, 13 April 2017

Main: Phosphatases and Diseases

Phosphatases co-regulate most biological processes with kinases, and like kinases, when dysregulation or mutation of phosphatases leads to a wide variety of diseases.


Table of phosphatase disease associations, taken from our 2017 phosphatome publication [1]:

Cancer
Gene Symbol Entrez Gene ID Fold Family Subfamily Hamosh et al. (2005) - OMIM Landrum et al. (2014) - ClinVar Yip et al. (2008) - Humsavar Futreal et al. (2004) - Cancer gene census Gonzalez-Perez et al. (2013) Cancer Driver Gene Tamborero et al. (2013) Cancer Driver Gene Kandoth et al. (2013) Signficantly Mutated Genes Davoli et al. (2013) - Tumor Suppressor Davoli et al. (2013) - Oncogene
ALPL 249 AP AP AP Yes. Adult hypophosphatasia; Infantile hypophosphatasia; Childhood hypophosphatasia Yes. Childhood hypophosphatasia [MedGen:C0220743], Infantile hypophosphatasia [MedGen:C0268412], Adult hypophosphatasia [MedGen:C0268413], Odontohypophosphatasia [MedGen:C1840322], [OMIM:146300], [OMIM:241500], [OMIM:241510], [SNOMEDCT:20756002], [SNOMEDCT:30174008], [SNOMEDCT:55236002] Yes: Hypophosphatasia (HOPS) [MIM:146300] No No No No No No
CDKN3 1033 CC1 DSP CDKN3 No No Yes: Hepatocellular carcinoma (HCC) [MIM:114550] No No No No No No
DUSP6 1848 CC1 DSP DSP6 Yes. Hypogonadotropic hypogonadism 19 with or without anosmia Yes. [MedGen:CN170855], [OMIM:615269], [Orphanet:ORPHA478] Yes: Hypogonadotropic hypogonadism 19 with or without anosmia (HH19) [MIM:615269] No No No No No No
DUSP16 80824 CC1 DSP DSP8 No No No No No No No Yes No
Laforin 7957 CC1 DSP Laforin Yes. Lafora disease Yes. Lafora disease [MedGen:C0751783], [OMIM:254780], [Orphanet:ORPHA501], [SNOMEDCT:230425004] Yes: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] No No No No No No
MTM1 4534 CC1 Myotubularin MTMR1 Yes. Severe X-linked myotubular myopathy Yes. Severe X-linked myotubular myopathy [MedGen:C0410203], [OMIM:310400], [Orphanet:ORPHA596], [SNOMEDCT:46804001] Yes: Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] No No Yes No No No
MTMR2 8898 CC1 Myotubularin MTMR1 Yes. Charcot-Marie-Tooth disease, type 4B1 Yes. Charcot-Marie-Tooth disease, type 4B1 [MedGen:C1832399], [OMIM:601382], [Orphanet:ORPHA99955] Yes: Charcot-Marie-Tooth disease 4B1 (CMT4B1) [MIM:601382] No No No No No No
MTMR14 64419 CC1 Myotubularin MTMR14 Yes. Myopathy, centronuclear, 1 No Yes: Myopathy, centronuclear, 1 (CNM1) [MIM:160150] No No No No No No
SBF1 6305 CC1 Myotubularin MTMR5 Yes. Charcot-Marie-Tooth disease, type 4B3 Yes. Charcot-Marie-Tooth disease, type 4B3 [MedGen:CN177020], [OMIM:615284], [Orphanet:ORPHA363981] No No No No No No No
SBF2 81846 CC1 Myotubularin MTMR5 Yes. Charcot-Marie-Tooth disease, type 4B2 Yes. Charcot-Marie-Tooth disease, type 4B2 [MedGen:C1858278], Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma [MedGen:C1858280], [OMIM:604563], [Orphanet:ORPHA99956] No No No No No No No
DNAJC6 9829 CC1 PTEN Auxilin Yes. Parkinson disease 19, juvenile-onset Yes. Parkinson disease 19, juvenile-onset [MedGen:CN181757], [OMIM:615528], [Orphanet:ORPHA391411] No No No No No No No
PTEN 5728 CC1 PTEN PTEN Yes. Bannayan-Riley-Ruvalcaba syndrome; Cutaneous malignant melanoma 1; Cowden syndrome 1; Malignant tumor of prostate; Thyroid cancer, follicular; Squamous cell carcinoma of the head and neck; Vacterl association with hydrocephalus; Macrocephaly/autism syndrome; Meningioma, familial; Endometrial carcinoma; Glioma susceptibility 2 Yes. Cowden syndrome [MedGen:C0018553], Meningioma [MedGen:C0025286], Bannayan-Riley-Ruvalcaba syndrome [MedGen:C0265326], Lhermitte-Duclos disease [MedGen:C0391826], Endometrial carcinoma [MedGen:C0476089], Macrocephaly/autism syndrome [MedGen:C1854416], PTEN hamartoma tumor syndrome with granular cell tumor [MedGen:C1866376], Proteus-like syndrome [MedGen:C1866398], PTEN hamartoma tumor syndrome [MedGen:C1959582], Vater association with macrocephaly and ventriculomegaly [MedGen:C2749240], Glioma susceptibility 2 [MedGen:C2751642], [OMIM:153480], [OMIM:158350], [OMIM:605309], [OMIM:608089], [OMIM:613028], [Orphanet:ORPHA109], [Orphanet:ORPHA210548], [SNOMEDCT:254878006], [SNOMEDCT:58037000] No Tumor suppressor Yes Yes Yes Yes No
PTPN1 5770 CC1 PTP PTPN1 Yes. Diabetes mellitus type 2 No No No No No No No No
PTPN22 26191 CC1 PTP PTPN12 Yes. Systemic lupus erythematosus; Rheumatoid arthritis; Diabetes mellitus type 1 No No No No No No No No
PTPN13 5783 CC1 PTP PTPN13 No No No No No Yes No No No
PTPN14 5784 CC1 PTP PTPN14 Yes. Choanal atresia and lymphedema Yes. Choanal atresia and lymphedema [MedGen:C3150875], [OMIM:613611] No No No No No No No
PTPN11 5781 CC1 PTP PTPN6 Yes. LEOPARD syndrome 1; Metachondromatosis; Noonan syndrome 1; Juvenile myelomonocytic leukemia Yes. Noonan syndrome [MedGen:C0028326], Noonan syndrome 1 [MedGen:C0041409], LEOPARD syndrome [MedGen:C0175704], Juvenile myelomonocytic leukemia [MedGen:C0349639], Metachondromatosis [MedGen:C0410530], LEOPARD syndrome 1 [MedGen:CN074218], Rasopathy [MedGen:CN166718], [OMIM:151100], [OMIM:156250], [OMIM:163950], [OMIM:607785], [Orphanet:ORPHA2499], [Orphanet:ORPHA500], [Orphanet:ORPHA648], [Orphanet:ORPHA86834], [SNOMEDCT:205481009], [SNOMEDCT:205824006] No Oncogene Yes Yes Yes No Yes
PTPRB 5787 CC1 PTP PTPRB No No No Tumor suppressor No No No No No
PTPRO 5800 CC1 PTP PTPRB Yes. Nephrotic syndrome, type 6 Yes. Nephrotic syndrome, type 6 [MedGen:C3280100], [OMIM:614196], [Orphanet:ORPHA656] No No No No No No No
PTPRQ 374462 CC1 PTP PTPRB Yes. Deafness, autosomal recessive 84 Yes. Deafness, autosomal recessive 84 [MedGen:C3150654], [OMIM:613391], [Orphanet:ORPHA90636] No No No No No No No
PTPRC 5788 CC1 PTP PTPRC Yes. Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive; Hepatitis c virus, susceptibility to Yes. Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [MedGen:C1837028], [OMIM:608971] No Tumor suppressor No No No No No
PTPRF 5792 CC1 PTP PTPRD Yes. Breasts and/or nipples, aplasia or hypoplasia of, 2 No No No No No No No No
PTPRZ1 5803 CC1 PTP PTPRG Yes. Helicobacter pylori infection, susceptibility to No No No No No No No No
PTPRK 5796 CC1 PTP PTPRK No No No Oncogene Yes No No Yes No
FIG4 9896 CC1 Sac FIG4 Yes. Yunis Varon syndrome; Charcot-Marie-Tooth disease, type 4J; Amyotrophic lateral sclerosis type 11; Polymicrogyria, bilateral occipital Yes. Yunis Varon syndrome [MedGen:C1857663], Charcot-Marie-Tooth disease, type 4J [MedGen:C1970011], Amyotrophic lateral sclerosis type 11 [MedGen:C2675491], [OMIM:216340], [OMIM:611228], [OMIM:612577], [Orphanet:ORPHA139515], [Orphanet:ORPHA3472], [Orphanet:ORPHA803] Yes: Charcot-Marie-Tooth disease 4J (CMT4J) [MIM:611228]; Amyotrophic lateral sclerosis 11 (ALS11) [MIM:612577]; Yunis-Varon syndrome (YVS) [MIM:216340]; Polymicrogyria, bilateral temporooccipital (BTOP) [MIM:612691] No No No No No No
SYNJ1 8867 CC1 Sac Synaptojanin Yes. Parkinson disease 20, early-onset Yes. [MedGen:CN181760], [OMIM:615530], [Orphanet:ORPHA391411] No No No No No No No
EYA1 2138 HAD EYA EYA Yes. Melnick-Fraser syndrome; Otofaciocervical syndrome; Branchiootic syndrome Yes. Melnick-Fraser syndrome [MedGen:C0265234], Otofaciocervical syndrome [MedGen:C1833691], Branchiootic syndrome [MedGen:C1865143], [OMIM:113650], [OMIM:166780], [OMIM:602588], [Orphanet:ORPHA107], [SNOMEDCT:290006] Yes: Branchiootorenal syndrome 1 (BOR1) [MIM:113650]; Anterior segment anomalies with or without cataract (ASA) [MIM:602588]; Branchiootic syndrome 1 (BOS1) [MIM:602588] No No No No No No
EYA4 2070 HAD EYA EYA Yes. Deafness, autosomal dominant 10; Dilated cardiomyopathy 1J Yes. Deafness, autosomal dominant 10 [MedGen:C1832476], Dilated cardiomyopathy 1J [MedGen:C1854368], [OMIM:601316], [OMIM:605362], [Orphanet:ORPHA217622], [Orphanet:ORPHA90635] Yes: Deafness, autosomal dominant, 10 (DFNA10) [MIM:601316] No No No No No No
Dullard 23399 HAD FCP DULLARD No No No No Yes No No Yes No
FCP1 9150 HAD FCP FCP1 Yes. Congenital Cataracts, Facial Dysmorphism, and Neuropathy Yes. Congenital Cataracts, Facial Dysmorphism, and Neuropathy [MedGen:C1858726], [OMIM:604168], [Orphanet:ORPHA48431] No No No No No No No
CECR5 27440 HAD NagD CUT No No No No Yes No No No No
BPGM 669 HP HP1 PGAM Yes. Deficiency of bisphosphoglycerate mutase Yes. Deficiency of bisphosphoglycerate mutase [MedGen:C1291620], [OMIM:222800], [SNOMEDCT:124678007] Yes: Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800] No No No No No No
PGAM2 5224 HP HP1 PGAM Yes. Glycogen storage disease type X Yes. Glycogen storage disease type X [MedGen:C0268149], [OMIM:261670], [Orphanet:ORPHA97234], [SNOMEDCT:37666005] Yes: Glycogen storage disease 10 (GSD10) [MIM:261670] No No No No No No
ACP2 53 HP HP2 ACP2 Yes. Acid phosphatase deficiency No No No No No No No No
MINPP1 9562 HP HP2 MINPP1 Yes. Thyroid cancer, follicular Yes. Thyroid cancer, follicular [MedGen:C0206682], [OMIM:188470], [Orphanet:ORPHA146] No No No No No No No
PDP1 54704 PPM PPM PDPc Yes. Pyruvate dehydrogenase phosphatase deficiency Yes. Pyruvate dehydrogenase phosphatase deficiency [MedGen:C1837429], [OMIM:608782], [Orphanet:ORPHA765], [Orphanet:ORPHA79246] No No No No No No No
PPM1D 8493 PPM PPM PPM1D Yes. Familial cancer of breast No No No No No No Yes No
PPM1K 152926 PPM PPM PPM1K Yes. Maple syrup urine disease, mild variant Yes. [MedGen:CN168515], [OMIM:615135], [Orphanet:ORPHA268162], [Orphanet:ORPHA511] No No No No No No No
ACP5 54 PPPL PAP ACP5 Yes. Spondyloenchondrodysplasia with immune dysregulation Yes. Spondyloenchondrodysplasia with immune dysregulation [MedGen:C1842763], [OMIM:607944] Yes: Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] No No No No No No
PPP6C 5537 PPPL PPP PPP6C No No No Oncogene No No No No Yes


Cancer

PTPRA

A PTPRA splice mutant activated Src is found in human tumours [2].

PTEN

PTPN11 (SHP2)

PTPRC (CD45)

DUSP3 (VHR)

DUSP3 is a negative regulator of ERK and JNK pathways in in vitro studies in several cell lines. Though its role is involved in human cancer, its has contradictory roles since it has been alternatively described as having tumor suppressive and oncogenic properties [3].

DUSP26 (MKP8)

DUSP26 (aka MKP8) is a novel p53 phosphatase and inhibits p53 tumor suppressor functions in human neuroblastoma [4].

PPM1D (WIP1)

PPM1D as a frequent target of somatic mutation and as a potential therapeutic target in brainstem gliomas [5].

PTPRZ1

PTPRZ1-MET (ZM) fusion protein induces gliomas through elevated expression and phosphorylation of the MET oncoprotein [6]. The fusion protein is found in human gliomas by high-throughput sequencing.

Parkinson's disease

DNAJC6

See OMIM.

Other diseases

MTMR3: Inflammatory bowel disease (IBD)

The rs713875 IBD risk polymorphism increases MTMR3 expression.

PDP1: pyruvate dehydrogenase (PDH) deficiency

See OMIM.

SBF1: Charcot-Marie-Tooth disease

See OMIM.

PPM1K: maple syrup urine disease

See OMIM.

MTMR14: centronuclear myopathy

See OMIM.

PTPRQ: deafness

See OMIM.

References

  1. Chen MJ, Dixon JE, and Manning G. Genomics and evolution of protein phosphatases. Sci Signal. 2017 Apr 11;10(474). DOI:10.1126/scisignal.aag1796 | PubMed ID:28400531 | HubMed [Chen]
  2. Huang J, Yao L, Xu R, Wu H, Wang M, White BS, Shalloway D, and Zheng X. Activation of Src and transformation by an RPTPα splice mutant found in human tumours. EMBO J. 2011 Jul 1;30(15):3200-11. DOI:10.1038/emboj.2011.212 | PubMed ID:21725282 | HubMed [Huang11]
  3. Amand M, Erpicum C, Bajou K, Cerignoli F, Blacher S, Martin M, Dequiedt F, Drion P, Singh P, Zurashvili T, Vandereyken M, Musumeci L, Mustelin T, Moutschen M, Gilles C, Noel A, and Rahmouni S. DUSP3/VHR is a pro-angiogenic atypical dual-specificity phosphatase. Mol Cancer. 2014 May 15;13:108. DOI:10.1186/1476-4598-13-108 | PubMed ID:24886454 | HubMed [Rahmouni14]
  4. Shang X, Vasudevan SA, Yu Y, Ge N, Ludwig AD, Wesson CL, Wang K, Burlingame SM, Zhao YJ, Rao PH, Lu X, Russell HV, Okcu MF, Hicks MJ, Shohet JM, Donehower LA, Nuchtern JG, and Yang J. Dual-specificity phosphatase 26 is a novel p53 phosphatase and inhibits p53 tumor suppressor functions in human neuroblastoma. Oncogene. 2010 Sep 2;29(35):4938-46. DOI:10.1038/onc.2010.244 | PubMed ID:20562916 | HubMed [yangj10]
  5. Zhang L, Chen LH, Wan H, Yang R, Wang Z, Feng J, Yang S, Jones S, Wang S, Zhou W, Zhu H, Killela PJ, Zhang J, Wu Z, Li G, Hao S, Wang Y, Webb JB, Friedman HS, Friedman AH, McLendon RE, He Y, Reitman ZJ, Bigner DD, and Yan H. Exome sequencing identifies somatic gain-of-function PPM1D mutations in brainstem gliomas. Nat Genet. 2014 Jul;46(7):726-30. DOI:10.1038/ng.2995 | PubMed ID:24880341 | HubMed [yan14]
  6. Chen HM, Yu K, Tang XY, Bao ZS, Jiang T, Fan XL, Chen XW, and Su XD. Enhanced expression and phosphorylation of the MET oncoprotein by glioma-specific PTPRZ1-MET fusions. FEBS Lett. 2015 Jun 4;589(13):1437-43. DOI:10.1016/j.febslet.2015.04.032 | PubMed ID:25935522 | HubMed [Chen15]
All Medline abstracts: PubMed | HubMed
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