Difference between revisions of "Phosphatases and Diseases"
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+ | __NOTOC__ | ||
+ | [[Main_Page|Main]]: [[Phosphatases_and_Diseases|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 <cite>Chen</cite>: | ||
+ | |||
+ | {| | ||
+ | | || || || || || || || || 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 == | == Cancer == | ||
+ | |||
+ | ==== PTPRA ==== | ||
+ | A PTPRA splice mutant activated Src is found in human tumours <cite>Huang11</cite>. | ||
==== [[Phosphatase_Gene_PTEN|PTEN]] ==== | ==== [[Phosphatase_Gene_PTEN|PTEN]] ==== | ||
Line 6: | Line 105: | ||
==== [[Phosphatase_Gene_PTPRC|PTPRC]] (CD45) ==== | ==== [[Phosphatase_Gene_PTPRC|PTPRC]] (CD45) ==== | ||
− | |||
==== [[Phosphatase_Gene_DUSP3|DUSP3]] (VHR)==== | ==== [[Phosphatase_Gene_DUSP3|DUSP3]] (VHR)==== | ||
Line 16: | 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>. | ||
+ | |||
+ | ==== [[Phosphatase_Subfamily_PTPRG|PTPRZ1]] ==== | ||
+ | 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. | ||
+ | |||
+ | == Parkinson's disease == | ||
+ | ==== [[Phosphatase_Gene_DNAJC6|DNAJC6]] ==== | ||
+ | See [http://omim.org/entry/608375 OMIM]. | ||
== Other diseases == | == Other diseases == | ||
− | ==== [[ | + | ==== [[Phosphatase_Subfamily_MTMR3|MTMR3]]: Inflammatory bowel disease (IBD) ==== |
− | + | The rs713875 IBD risk polymorphism increases MTMR3 expression. | |
− | ==== [[Phosphatase_Gene_MTMR14|MTMR14]] | + | ==== [[Phosphatase_Gene_PDP1|PDP1]]: pyruvate dehydrogenase (PDH) deficiency ==== |
+ | See [http://omim.org/entry/608782 OMIM]. | ||
+ | |||
+ | ==== [[Phosphatase_Gene_SBF1|SBF1]]: Charcot-Marie-Tooth disease ==== | ||
+ | See [http://omim.org/entry/603560 OMIM]. | ||
+ | |||
+ | ==== [[Phosphatase_Gene_PPM1K|PPM1K]]: maple syrup urine disease ==== | ||
+ | See [http://omim.org/entry/611065 OMIM]. | ||
+ | |||
+ | ==== [[Phosphatase_Gene_MTMR14|MTMR14]]: [http://en.wikipedia.org/wiki/Centronuclear_myopathy centronuclear myopathy] ==== | ||
See [http://omim.org/entry/160150 OMIM]. | See [http://omim.org/entry/160150 OMIM]. | ||
+ | |||
+ | ==== [[Phosphatase_Gene_PTPRQ|PTPRQ]]: deafness ==== | ||
+ | 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
- 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 |
- 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 |
- 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 |
- 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 |
- 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 |
- 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 |