KEGG   Homo sapiens (human): 7957
Entry
7957              CDS       T01001                                 

Gene name
EPM2A, EPM2, MELF
Definition
(RefSeq) EPM2A glucan phosphatase, laforin
  KO
K14165  atypical dual specificity phosphatase [EC:3.1.3.16 3.1.3.48]
Organism
hsa  Homo sapiens (human)
Disease
H00810  Progressive myoclonic epilepsy
H01994  Lafora disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01009 Protein phosphatases and associated proteins [BR:hsa01009]
    7957 (EPM2A)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.1  Acting on ester bonds
   3.1.3  Phosphoric-monoester hydrolases
    3.1.3.16  protein-serine/threonine phosphatase
     7957 (EPM2A)
    3.1.3.48  protein-tyrosine-phosphatase
     7957 (EPM2A)
Protein phosphatases and associated proteins [BR:hsa01009]
 Protein tyrosine phosphatases (PTPs)
  Class I PTPs (Dual specificity phosphatases)
   Atypical DSPs
    7957 (EPM2A)
SSDB
Motif
Pfam: DSPc CBM_20 Y_phosphatase2 AlaDh_PNT_N
Other DBs
NCBI-GeneID: 7957
NCBI-ProteinID: NP_005661
OMIM: 607566
HGNC: 3413
Ensembl: ENSG00000112425
Vega: OTTHUMG00000015747
Pharos: O95278(Tbio)
UniProt: O95278
Structure
PDB: 
4R30 4RKK

Position
6q24.3
AA seq 331 aa
MRFRFGVVVPPAVAGARPELLVVGSRPELGRWEPRGAVRLRPAGTAAGDGALALQEPGLW
LGEVELAAEEAAQDGAEPGRVDTFWYKFLKREPGGELSWEGNGPHHDRCCTYNENNLVDG
VYCLPIGHWIEATGHTNEMKHTTDFYFNIAGHQAMHYSRILPNIWLGSCPRQVEHVTIKL
KHELGITAVMNFQTEWDIVQNSSGCNRYPEPMTPDTMIKLYREEGLAYIWMPTPDMSTEG
RVQMLPQAVCLLHALLEKGHIVYVHCNAGVGRSTAAVCGWLQYVMGWNLRKVQYFLMAKR
PAVYIDEEALARAQEDFFQKFGKVRSSVCSL
NT seq 996 nt   +upstreamnt  +downstreamnt
atgcgcttccgctttggggtggtggtgccacccgccgtggccggcgcccggccggagctg
ctggtggtggggtcgcggcccgagctggggcgttgggagccgcgcggtgccgtccgcctg
aggccggccggcaccgcggcgggcgacggggccctggccctgcaggagccgggcctgtgg
ctcggggaggtggagctggcggccgaggaggcggcgcaggacggggcggagccgggccgc
gtggacacgttctggtacaagttcctgaagcgggagccgggaggagagctctcctgggaa
ggcaatggacctcatcatgaccgttgctgtacttacaatgaaaacaacttggtggatggt
gtgtattgtctcccaataggacactggattgaggccactgggcacaccaatgaaatgaag
cacacaacagacttctattttaatattgcaggccaccaagccatgcattattcaagaatt
ctaccaaatatctggctgggtagctgccctcgtcaggtggaacatgtaaccatcaaactg
aagcatgaattggggattacagctgtaatgaatttccagactgaatgggatattgtacag
aattcctcaggctgtaaccgctacccagagcccatgactccagacactatgattaaacta
tatagggaagaaggcttggcctacatctggatgccaacaccagatatgagcaccgaaggc
cgagtacagatgctgccccaggcggtgtgcctgctgcatgcgctgctggagaagggacac
atcgtgtacgtgcactgcaacgctggggtgggccgctccaccgcggctgtctgcggctgg
ctccagtatgtgatgggctggaatctgaggaaggtgcagtatttcctcatggccaagagg
ccggctgtctacattgacgaagaggccttggcccgggcacaagaagattttttccagaaa
tttgggaaggttcgttcttctgtgtgtagcctgtag

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