EPM2A (EPM2A glucan phosphatase, laforin) - Rat Genome Database

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Gene: EPM2A (EPM2A glucan phosphatase, laforin) Pan paniscus
Analyze
Symbol: EPM2A
Name: EPM2A glucan phosphatase, laforin
RGD ID: 11962095
Description: ENCODES a protein that exhibits carbohydrate binding (ortholog); glycogen binding (ortholog); phosphatase activity (ortholog); INVOLVED IN autophagosome assembly (ortholog); autophagy (ortholog); calcium ion transport (ortholog); ASSOCIATED WITH benign epilepsy with centrotemporal spikes (ortholog); cataract (ortholog); epilepsy (ortholog); FOUND IN cytoplasmic side of rough endoplasmic reticulum membrane (ortholog); cytosol (ortholog); nucleoplasm (ortholog)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: epilepsy, progressive myoclonus type 2A, Lafora disease (laforin); EPM2A, laforin glucan phosphatase; laforin
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: Mhudiblu_PPA_v0 - Bonobo Mhudiblu_PPA_v0 Assembly
Position:
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25165,625,021 - 165,749,502 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16163,278,722 - 163,622,838 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06143,179,097 - 143,525,223 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16148,133,563 - 148,238,519 (-)NCBIpanpan1.1PanPan1.1panPan2
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References
Additional References at PubMed
PMID:22301074   PMID:30032202  


Genomics

Comparative Map Data
EPM2A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25165,625,021 - 165,749,502 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16163,278,722 - 163,622,838 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06143,179,097 - 143,525,223 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16148,133,563 - 148,238,519 (-)NCBIpanpan1.1PanPan1.1panPan2
EPM2A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386145,383,353 - 145,736,023 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6145,382,535 - 145,736,023 (-)EnsemblGRCh38hg38GRCh38
GRCh376145,946,441 - 146,057,159 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366145,988,133 - 146,098,684 (-)NCBINCBI36Build 36hg18NCBI36
Build 346145,988,132 - 146,098,684NCBI
Celera6146,686,800 - 146,797,348 (-)NCBICelera
Cytogenetic Map6q24.3NCBI
HuRef6143,510,000 - 143,620,189 (-)NCBIHuRef
CHM1_16146,209,644 - 146,320,201 (-)NCBICHM1_1
T2T-CHM13v2.06146,574,195 - 146,956,629 (-)NCBIT2T-CHM13v2.0
Epm2a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391011,218,435 - 11,335,408 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1011,219,148 - 11,335,388 (+)EnsemblGRCm39 Ensembl
GRCm381011,342,691 - 11,459,664 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1011,343,404 - 11,459,644 (+)EnsemblGRCm38mm10GRCm38
MGSCv371011,063,243 - 11,177,275 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361011,033,594 - 11,147,912 (+)NCBIMGSCv36mm8
Celera1011,232,470 - 11,346,997 (+)NCBICelera
Cytogenetic Map10A1NCBI
cM Map103.66NCBI
Epm2a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr817,547,369 - 7,673,449 (+)NCBIGRCr8
mRatBN7.215,727,111 - 5,845,338 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl15,727,066 - 5,920,555 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx15,419,467 - 5,535,147 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0111,419,821 - 11,535,500 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.015,701,665 - 5,817,345 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.015,448,958 - 5,571,512 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl15,448,958 - 5,571,512 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.017,100,639 - 7,223,403 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.116,051,557 - 6,172,313 (+)NCBI
Celera14,243,803 - 4,360,561 (+)NCBICelera
Cytogenetic Map1p13NCBI
Epm2a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543614,926,123 - 14,983,180 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543614,925,452 - 14,982,357 (+)NCBIChiLan1.0ChiLan1.0
EPM2A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1136,835,775 - 36,977,653 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl136,870,594 - 36,931,847 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha137,577,467 - 37,858,360 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0136,862,309 - 37,141,316 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl137,028,269 - 37,141,626 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1136,732,602 - 37,013,661 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0136,604,089 - 36,884,723 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0137,104,772 - 37,201,859 (-)NCBIUU_Cfam_GSD_1.0
Epm2a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946131,813,991 - 131,874,561 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936625738,124 - 821,566 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936625761,013 - 819,826 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FBXO30
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl119,806,765 - 19,893,339 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1119,806,363 - 19,893,350 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2122,050,546 - 22,135,943 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EPM2A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11326,152,974 - 26,266,676 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1326,153,319 - 26,264,568 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040202,127,578 - 202,247,016 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Epm2a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247538,715,898 - 8,804,194 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247538,715,898 - 8,805,728 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2


Expression


Sequence


Reference Sequences
RefSeq Acc Id: XM_024929011   ⟹   XP_024784779
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v25165,625,021 - 165,731,697 (-)NCBI
NHGRI_mPanPan16163,518,193 - 163,622,827 (-)NCBI
Mhudiblu_PPA_v06143,418,311 - 143,525,223 (-)NCBI
PanPan1.16148,133,563 - 148,238,519 (-)NCBI
Sequence:
RefSeq Acc Id: XM_063605517   ⟹   XP_063461587
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v25165,625,021 - 165,749,502 (-)NCBI
Protein Sequences
Protein RefSeqs XP_024784779 (Get FASTA)   NCBI Sequence Viewer  
  XP_063461587 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSPPAP00000036156.1
  ENSPPAP00000036157.1
Reference Protein Sequences
RefSeq Acc Id: XP_024784779   ⟸   XM_024929011
- Sequence:
RefSeq Acc Id: XP_063461587   ⟸   XM_063605517
Protein Domains
Tyrosine specific protein phosphatases   Tyrosine-protein phosphatase


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSPPAG00000040864 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSPPAT00000059047.1 UniProtKB/TrEMBL
  ENSPPAT00000059048.1 UniProtKB/TrEMBL
Gene3D-CATH 3.90.190.10 UniProtKB/TrEMBL
InterPro DSP_laforin-like UniProtKB/TrEMBL
  Dual-sp_phosphatase_cat-dom UniProtKB/TrEMBL
  Laforin UniProtKB/TrEMBL
  Prot-tyrosine_phosphatase-like UniProtKB/TrEMBL
  Tyr_Pase_AS UniProtKB/TrEMBL
  TYR_PHOSPHATASE_dom UniProtKB/TrEMBL
  TYR_PHOSPHATASE_DUAL_dom UniProtKB/TrEMBL
NCBI Gene EPM2A ENTREZGENE
PANTHER LAFORIN UniProtKB/TrEMBL
  PTHR46864 UniProtKB/TrEMBL
Pfam DSPc UniProtKB/TrEMBL
PROSITE TYR_PHOSPHATASE_1 UniProtKB/TrEMBL
  TYR_PHOSPHATASE_2 UniProtKB/TrEMBL
  TYR_PHOSPHATASE_DUAL UniProtKB/TrEMBL
SMART DSPc UniProtKB/TrEMBL
Superfamily-SCOP SSF52799 UniProtKB/TrEMBL
UniProt A0A2R9C2J5_PANPA UniProtKB/TrEMBL
  A0A2R9CCV0_PANPA UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 EPM2A  EPM2A glucan phosphatase, laforin    EPM2A, laforin glucan phosphatase  Symbol and/or name change 5135510 APPROVED