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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Ontology (3)   
   KEGG BRITE (3)   
Disease (4)   
   KEGG DISEASE (2)   
   OMIM (2)   
Chemical reaction (2)   
   KEGG ENZYME (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (13)   
   KEGG ORTHOLOGY (1)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (17)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (15)   
DNA sequence (48)   
   RefSeq(nuc) (16)   
   GenBank (16)   
   EMBL (16)   
Protein domain (4)   
   Pfam (4)   
All databases (92)   

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