KEGG   Homo sapiens (human): 8898
Entry
8898              CDS       T01001                                 
Symbol
MTMR2, CMT4B, CMT4B1
Name
(RefSeq) myotubularin related protein 2
  KO
K18081  myotubularin-related protein 1/2 [EC:3.1.3.64 3.1.3.95]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00562  Inositol phosphate metabolism
hsa01100  Metabolic pathways
hsa04070  Phosphatidylinositol signaling system
Disease
H00264  Charcot-Marie-Tooth disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00562 Inositol phosphate metabolism
    8898 (MTMR2)
 09130 Environmental Information Processing
  09132 Signal transduction
   04070 Phosphatidylinositol signaling system
    8898 (MTMR2)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01009 Protein phosphatases and associated proteins [BR:hsa01009]
    8898 (MTMR2)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.1  Acting on ester bonds
   3.1.3  Phosphoric-monoester hydrolases
    3.1.3.64  phosphatidylinositol-3-phosphatase
     8898 (MTMR2)
    3.1.3.95  phosphatidylinositol-3,5-bisphosphate 3-phosphatase
     8898 (MTMR2)
Protein phosphatases and associated proteins [BR:hsa01009]
 Protein tyrosine phosphatases (PTPs)
  Class I PTPs (Dual specificity phosphatases)
   Myotubularins
    8898 (MTMR2)
SSDB
Motif
Pfam: Myotub-related GRAM Y_phosphatase DSPc 3-PAP Y_phosphatase3
Other DBs
NCBI-GeneID: 8898
NCBI-ProteinID: NP_057240
OMIM: 603557
HGNC: 7450
Ensembl: ENSG00000087053
UniProt: Q13614
Structure
Position
11:complement(95832880..95924107)
AA seq 643 aa
MEKSSSCESLGSQPAAARPPSVDSLSSASTSHSENSVHTKSASVVSSDSISTSADNFSPD
LRVLRESNKLAEMEEPPLLPGENIKDMAKDVTYICPFTGAVRGTLTVTNYRLYFKSMERD
PPFVLDASLGVINRVEKIGGASSRGENSYGLETVCKDIRNLRFAHKPEGRTRRSIFENLM
KYAFPVSNNLPLFAFEYKEVFPENGWKLYDPLLEYRRQGIPNESWRITKINERYELCDTY
PALLVVPANIPDEELKRVASFRSRGRIPVLSWIHPESQATITRCSQPMVGVSGKRSKEDE
KYLQAIMDSNAQSHKIFIFDARPSVNAVANKAKGGGYESEDAYQNAELVFLDIHNIHVMR
ESLRKLKEIVYPNIEETHWLSNLESTHWLEHIKLILAGALRIADKVESGKTSVVVHCSDG
WDRTAQLTSLAMLMLDGYYRTIRGFEVLVEKEWLSFGHRFQLRVGHGDKNHADADRSPVF
LQFIDCVWQMTRQFPTAFEFNEYFLITILDHLYSCLFGTFLCNSEQQRGKENLPKRTVSL
WSYINSQLEDFTNPLYGSYSNHVLYPVASMRHLELWVGYYIRWNPRMKPQEPIHNRYKEL
LAKRAELQKKVEELQREISNRSTSSSERASSPAQCVTPVQTVV
NT seq 1932 nt   +upstreamnt  +downstreamnt
atggagaagagctcgagctgcgagagtcttggctcccagccggcggcggctcggccgccc
agcgtggactccttgtccagtgcctccacttctcattcagagaattcagtgcatacaaaa
tcagcttctgttgtatcatcagattccatttcaacttctgccgacaacttttctcctgat
ttgagggtcctgagggagtctaacaagttagcagaaatggaagaaccacccttgcttcca
ggagaaaatattaaagacatggccaaagatgtaacttatatatgtccattcactggcgct
gtacgaggaactctgactgtcacgaattataggttatatttcaaaagcatggaacgggat
cccccatttgttttagatgcttcccttggtgtgataaatagagtagaaaaaattggtggt
gcttctagtcgaggtgaaaattcttatggactagaaactgtgtgtaaggatattaggaat
ttacgatttgctcataaacctgaggggcggacaagaagatccatatttgagaatctaatg
aaatatgcatttcctgtctctaataacctgcctctttttgcttttgaatacaaagaagta
ttccctgaaaatgggtggaagctatatgaccctcttttagagtatagaaggcagggaatt
ccaaatgaaagctggagaataacaaagataaatgaacgatatgaactttgtgatacatac
cctgccctcctggttgtgccagcaaatattcctgatgaagaattaaagagagtggcatcc
ttcagatcaagaggccgtatcccagttttatcatggattcatcctgaaagtcaagccaca
atcactcggtgtagccagcccatggttggagtgagtggaaagcgaagcaaagaagatgaa
aaataccttcaagctatcatggattccaatgcccagtctcacaaaatctttatatttgat
gcccggccaagtgttaatgctgttgccaacaaggcaaagggtggaggttatgaaagtgaa
gatgcctatcaaaatgctgaactagttttcctggatatccacaatattcatgttatgaga
gaatcattacgaaaacttaaggagattgtgtaccccaacattgaggaaacccactggttg
tctaacttggaatctactcattggctagaacatattaagcttattcttgcaggggctctt
aggattgctgacaaggtagagtcagggaagacgtctgtggtagtgcattgcagtgatggt
tgggatcgcacagctcagctcacttcccttgccatgctcatgttggatggatactatcga
accatccgaggatttgaagtccttgtggagaaagaatggctaagttttggacatcgattt
caactaagagttggccatggagataagaaccatgcagatgcagacagatcgcctgttttt
cttcaatttattgactgtgtctggcagatgacaagacagtttcctaccgcatttgaattc
aatgagtattttctcattaccattttggaccacctatacagctgcttattcggaacattc
ctctgtaatagtgaacaacagagaggaaaagagaatcttcctaaaaggactgtgtcactg
tggtcttacataaacagccagctggaagacttcactaatcctctctatgggagctattcc
aatcatgtcctttatccagtagccagcatgcgccacctagagctctgggtgggatattac
ataaggtggaatccacggatgaaaccacaggaacctattcacaacagatacaaagaactt
cttgctaaacgagcagagcttcagaaaaaagtagaggaactacagagagagatttctaac
cgatcaacctcatcctcagagagagccagctctcctgcacagtgtgtcactcctgtccaa
actgttgtataa

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Ontology (3)   
   KEGG BRITE (3)   
Pathway (3)   
   KEGG PATHWAY (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical substance (4)   
   KEGG COMPOUND (4)   
Chemical reaction (3)   
   KEGG ENZYME (2)   
   KEGG REACTION (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (21)   
   KEGG ORTHOLOGY (1)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (12)   
   OC (1)   
Protein sequence (14)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (12)   
DNA sequence (56)   
   RefSeq(nuc) (12)   
   GenBank (22)   
   EMBL (22)   
3D Structure (5)   
   PDB (5)   
Protein domain (6)   
   Pfam (6)   
All databases (119)   

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