Phosphatases and Diseases - Revision history

Gerard at 16:05, 13 April 2017

2017-04-13T16:05:16Z

Gerard at 16:19, 11 April 2017

2017-04-11T16:19:02Z

Gerard at 16:17, 11 April 2017

2017-04-11T16:17:05Z

Gerard at 16:16, 11 April 2017

2017-04-11T16:16:51Z

Gerard at 16:14, 11 April 2017

2017-04-11T16:14:35Z

Mark at 18:40, 15 December 2015

2015-12-15T18:40:19Z

Mark at 18:48, 15 September 2015

2015-09-15T18:48:21Z

Mark at 18:31, 5 May 2015

2015-05-05T18:31:10Z

Mark: /* Other diseases */

2014-06-06T04:21:55Z

‎Other diseases

Mark: /* [Phosphatase_Gene_DNAJC6|DNAJC6] */

2014-06-06T04:18:39Z

‎[Phosphatase_Gene_DNAJC6|DNAJC6]

@@ Line 5: / Line 5: @@
-Table of phosphatase disease associations:
+Table of phosphatase disease associations, taken from our 2017 phosphatome publication <cite>Chen</cite>:
 {|
@@ Line 144: / Line 144: @@
 == References ==
 <biblio>
 #Chen15 pmid=25935522
 #Huang11 pmid=21725282

← Older revision		Revision as of 16:19, 11 April 2017
Line 3:		Line 3:

	Phosphatases co-regulate most biological processes with kinases, and like kinases, when dysregulation or mutation of phosphatases leads to a wide variety of 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:
		+
		+	{\|
		+	\| \|\| \|\| \|\| \|\| \|\| \|\| \|\| \|\| 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 ==

@@ Line 1: / Line 1: @@
 __NOTOC__
-[[Main_Page Main]]: [[Phosphatases_and_Diseases|Phosphatases and Diseases]]
+[[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.

← Older revision		Revision as of 16:16, 11 April 2017
Line 1:		Line 1:
−	[[Main]]:[[Phosphatases and ~~Disease~~]]	+	__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.

	== Cancer ==		== Cancer ==

← Older revision		Revision as of 16:14, 11 April 2017
Line 1:		Line 1:
		+	[[Main]]:[[Phosphatases and Disease]]
		+
	== Cancer ==		== Cancer ==

@@ Line 1: / Line 1: @@
 == Cancer ==
 ==== [[Phosphatase_Gene_PTEN|PTEN]] ====
@@ Line 45: / Line 48: @@
 == References ==
 <biblio>
 #Chen15 pmid=25935522
 #yangj10 pmid=20562916
 #yan14 pmid=24880341
 </biblio>

← Older revision		Revision as of 18:48, 15 September 2015
Line 24:		Line 24:

	== Other diseases ==		== Other diseases ==
		+
		+	==== [[Phosphatase_Subfamily_MTMR3\|MTMR3]]: Inflammatory bowel disease (IBD) ====
		+	The rs713875 IBD risk polymorphism increases MTMR3 expression.

	==== [[Phosphatase_Gene_PDP1\|PDP1]]: pyruvate dehydrogenase (PDH) deficiency ====		==== [[Phosphatase_Gene_PDP1\|PDP1]]: pyruvate dehydrogenase (PDH) deficiency ====

@@ Line 16: / Line 16: @@
 PPM1D as a frequent target of somatic mutation and as a potential therapeutic target in brainstem gliomas <cite>yan14</cite>.
 == Parkinson's disease ==
@@ Line 41: / Line 43: @@
 <biblio>
 #Rahmouni14 pmid=24886454
 #yangj10 pmid=20562916
 #yan14 pmid=24880341
 </biblio>

@@ Line 23: / Line 23: @@
 == Other diseases ==
-==== [Phosphatase_Gene_SBF1|SBF1]]: Charcot-Marie-Tooth disease ====
+==== [[Phosphatase_Gene_PDP1|PDP1]]: pyruvate dehydrogenase (PDH) deficiency ====
 See [http://omim.org/entry/603560 OMIM].
-==== [Phosphatase_Gene_PPM1K|PPM1K]]: Maple syrup urine disease ====
+==== [[Phosphatase_Gene_PPM1K|PPM1K]]: maple syrup urine disease ====
 See [http://omim.org/entry/611065 OMIM].

@@ Line 18: / Line 18: @@
 == Parkinson's disease ==
-==== [Phosphatase_Gene_DNAJC6|DNAJC6] ====
+==== [[Phosphatase_Gene_DNAJC6|DNAJC6]] ====
 See [http://omim.org/entry/608375 OMIM].
 == Other diseases ==