KEGG   Homo sapiens (human): 8898Help
Entry
8898              CDS       T01001                                 

Gene name
MTMR2, CMT4B, CMT4B1
Definition
(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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Myotub-related GRAM Y_phosphatase 3-PAP DSPc Y_phosphatase3 DUF4482
Motif
Other DBs
NCBI-GeneID: 8898
NCBI-ProteinID: NP_057240
OMIM: 603557
HGNC: 7450
Ensembl: ENSG00000087053
Vega: OTTHUMG00000153837
Pharos: Q13614(Tbio)
UniProt: Q13614
Structure
PDB: 

Position
11q21
AA seq 643 aa AA seqDB search
MEKSSSCESLGSQPAAARPPSVDSLSSASTSHSENSVHTKSASVVSSDSISTSADNFSPD
LRVLRESNKLAEMEEPPLLPGENIKDMAKDVTYICPFTGAVRGTLTVTNYRLYFKSMERD
PPFVLDASLGVINRVEKIGGASSRGENSYGLETVCKDIRNLRFAHKPEGRTRRSIFENLM
KYAFPVSNNLPLFAFEYKEVFPENGWKLYDPLLEYRRQGIPNESWRITKINERYELCDTY
PALLVVPANIPDEELKRVASFRSRGRIPVLSWIHPESQATITRCSQPMVGVSGKRSKEDE
KYLQAIMDSNAQSHKIFIFDARPSVNAVANKAKGGGYESEDAYQNAELVFLDIHNIHVMR
ESLRKLKEIVYPNIEETHWLSNLESTHWLEHIKLILAGALRIADKVESGKTSVVVHCSDG
WDRTAQLTSLAMLMLDGYYRTIRGFEVLVEKEWLSFGHRFQLRVGHGDKNHADADRSPVF
LQFIDCVWQMTRQFPTAFEFNEYFLITILDHLYSCLFGTFLCNSEQQRGKENLPKRTVSL
WSYINSQLEDFTNPLYGSYSNHVLYPVASMRHLELWVGYYIRWNPRMKPQEPIHNRYKEL
LAKRAELQKKVEELQREISNRSTSSSERASSPAQCVTPVQTVV
NT seq 1932 nt NT seq  +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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