Epm2a (EPM2A glucan phosphatase, laforin) - Rat Genome Database

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Gene: Epm2a (EPM2A glucan phosphatase, laforin) Rattus norvegicus
Analyze
Symbol: Epm2a
Name: EPM2A glucan phosphatase, laforin
RGD ID: 71047
Description: Predicted to enable several functions, including glycogen (starch) synthase activity; phosphatase activity; and polysaccharide binding activity. Predicted to be involved in carbohydrate phosphorylation; glycogen metabolic process; and negative regulation of dephosphorylation. Predicted to act upstream of or within several processes, including glycogen biosynthetic process; regulation of protein localization; and regulation of protein metabolic process. Predicted to be located in several cellular components, including cytoplasmic side of rough endoplasmic reticulum membrane; dendrite; and perikaryon. Predicted to be active in cytosol and nucleus. Human ortholog(s) of this gene implicated in progressive myoclonus epilepsy. Orthologous to human EPM2A (EPM2A glucan phosphatase, laforin); INTERACTS WITH 1,2-dimethylhydrazine; aconitine; acrylamide.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: epilepsy, progressive myoclonic epilepsy, type 2 gene alpha; epilepsy, progressive myoclonus type 2A; EPM2A, laforin glucan phosphatase; glucan phosphatase; lafora PTPase; laforin; LAFPTPase; LOC684363; similar to Laforin (Lafora PTPase) (LAFPTPase)
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
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
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. Mutations in NHLRC1 cause progressive myoclonus epilepsy. Chan EM, etal., Nat Genet 2003 Oct;35(2):125-7. Epub 2003 Sep 7.
2. Regional and developmental expression of Epm2a gene and its evolutionary conservation. Ganesh S, etal., Biochem Biophys Res Commun 2001 May 25;283(5):1046-53.
3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
4. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
5. Gene Data Set MGD Curation, June 12, 2002
6. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
7. Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Minassian BA, etal., Nat Genet. 1998 Oct;20(2):171-4.
8. Electronic Transfer of LocusLink and RefSeq Data NCBI rat LocusLink and RefSeq merged data July 26, 2002
9. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
10. GOA pipeline RGD automated data pipeline
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11001928   PMID:11739371   PMID:12019206   PMID:12915448   PMID:15102711   PMID:15541350   PMID:16901901   PMID:16971387   PMID:17908927   PMID:18040046   PMID:18617530   PMID:18824542  
PMID:18852261   PMID:20453062   PMID:21552327   PMID:23663739   PMID:24430976   PMID:24914213   PMID:25416783   PMID:25538239   PMID:25544560   PMID:26316108   PMID:26976331   PMID:27107699  
PMID:28063983   PMID:28536304   PMID:28973665  


Genomics

Comparative Map Data
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
(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
(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
(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
(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

Variants

.
Variants in Epm2a
695 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:269
Count of miRNA genes:170
Interacting mature miRNAs:214
Transcripts:ENSRNOT00000061930
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1354647Despr8Despair related QTL 80.0000341locomotor behavior trait (VT:0001392)amount of experiment time spent in a discrete space in an experimental apparatus (CMO:0000958)1124744506Rat
2298546Neuinf4Neuroinflammation QTL 45.1nervous system integrity trait (VT:0010566)spinal cord RT1-B protein level (CMO:0002132)1128736750Rat
2313053Bss51Bone structure and strength QTL 513.80.0001tibia length (VT:0004357)tibia length (CMO:0000450)1132356093Rat
2313070Bss52Bone structure and strength QTL 524.40.0001body length (VT:0001256)body length (CMO:0000013)1132356093Rat
2313090Bmd69Bone mineral density QTL 694.40.0001tibia mineral mass (VT:1000283)compact volumetric bone mineral density (CMO:0001730)1132356093Rat
738020Pia8Pristane induced arthritis QTL 84.7joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)1165833076Rat
1578650Bmd6Bone mineral density QTL 612.2femur mineral mass (VT:0010011)total volumetric bone mineral density (CMO:0001728)150910843284926Rat
1578651Bmd7Bone mineral density QTL 714.2femur mineral mass (VT:0010011)compact volumetric bone mineral density (CMO:0001730)150910843284926Rat
1578669Bss9Bone structure and strength QTL 96.3femur morphology trait (VT:0000559)bone trabecular cross-sectional area (CMO:0002311)150910843284926Rat
1554320Bmd1Bone mineral density QTL 112.20.0001femur mineral mass (VT:0010011)volumetric bone mineral density (CMO:0001553)150910886060548Rat
1600360Mcs16Mammary carcinoma susceptibility QTL 162.4mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)1224439043433040Rat
1300170Rf6Renal function QTL 63.14renal blood flow trait (VT:2000006)absolute change in renal blood flow rate (CMO:0001168)1416280711481482Rat
7421626Bp360Blood pressure QTL 3600.001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1439328949393289Rat

Markers in Region
Z19543  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.215,763,936 - 5,764,130 (+)MAPPERmRatBN7.2
Rnor_6.015,486,427 - 5,486,620NCBIRnor6.0
Rnor_5.017,138,084 - 7,138,277UniSTSRnor5.0
RGSC_v3.416,089,883 - 6,090,076UniSTSRGSC3.4
Celera14,280,330 - 4,280,523UniSTS
Cytogenetic Map1p1UniSTS
G47430  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.215,827,147 - 5,827,359 (+)MAPPERmRatBN7.2
Rnor_6.015,553,527 - 5,553,738NCBIRnor6.0
Rnor_5.017,205,609 - 7,205,820UniSTSRnor5.0
RGSC_v3.416,153,515 - 6,153,726UniSTSRGSC3.4
Celera14,343,091 - 4,343,302UniSTS
Cytogenetic Map1p1UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system appendage
High
Medium 4 5 5 4
Low 1 43 36 23 16 23 4 6 69 35 41 11 4
Below cutoff 2 21 18 3 18

Sequence


RefSeq Acc Id: ENSRNOT00000061930   ⟹   ENSRNOP00000058646
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl15,727,066 - 5,920,555 (+)Ensembl
Rnor_6.0 Ensembl15,448,958 - 5,571,512 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000099572   ⟹   ENSRNOP00000076978
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl15,727,066 - 5,846,440 (+)Ensembl
RefSeq Acc Id: NM_001276762   ⟹   NP_001263691
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr817,547,369 - 7,665,358 (+)NCBI
mRatBN7.215,727,111 - 5,845,103 (+)NCBI
Rnor_6.015,448,958 - 5,571,512 (+)NCBI
Rnor_5.017,100,639 - 7,223,403 (+)NCBI
Celera14,243,803 - 4,360,561 (+)NCBI
Sequence:
RefSeq Acc Id: XM_039106219   ⟹   XP_038962147
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr817,606,013 - 7,673,449 (+)NCBI
mRatBN7.215,785,761 - 5,845,338 (+)NCBI
RefSeq Acc Id: NP_001263691   ⟸   NM_001276762
- UniProtKB: F1LPW7 (UniProtKB/Swiss-Prot),   Q91XQ2 (UniProtKB/Swiss-Prot),   A0A8L2QTS7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSRNOP00000058646   ⟸   ENSRNOT00000061930
RefSeq Acc Id: XP_038962147   ⟸   XM_039106219
- Peptide Label: isoform X1
RefSeq Acc Id: ENSRNOP00000076978   ⟸   ENSRNOT00000099572
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q91XQ2-F1-model_v2 AlphaFold Q91XQ2 1-331 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

Promoters
RGD ID:13689490
Promoter ID:EPDNEW_R15
Type:single initiation site
Name:Epm2a_1
Description:EPM2A, laforin glucan phosphatase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.015,448,932 - 5,448,992EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:71047 AgrOrtholog
BioCyc Gene G2FUF-62398 BioCyc
Ensembl Genes ENSRNOG00000040242 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSRNOG00055001787 UniProtKB/Swiss-Prot
  ENSRNOG00060004833 UniProtKB/Swiss-Prot
  ENSRNOG00065025151 UniProtKB/Swiss-Prot
Ensembl Transcript ENSRNOT00000061930.5 UniProtKB/TrEMBL
  ENSRNOT00000099572 ENTREZGENE
  ENSRNOT00000099572.1 UniProtKB/Swiss-Prot
  ENSRNOT00055002894 UniProtKB/Swiss-Prot
  ENSRNOT00060008042 UniProtKB/Swiss-Prot
  ENSRNOT00065043273 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.190.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro Carb-bd-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CBM20_laforin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CBM_fam20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DSP_laforin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dual-sp_phosphatase_cat-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laforin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot-tyrosine_phosphatase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_Pase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_Pase_dom UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
  TYR_PHOSPHATASE_DUAL_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report rno:114005 UniProtKB/Swiss-Prot
NCBI Gene 114005 ENTREZGENE
PANTHER LAFORIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR46864 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DSPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Epm2a PhenoGen
PROSITE CBM20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_DUAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
RatGTEx ENSRNOG00000040242 RatGTEx
  ENSRNOG00055001787 RatGTEx
  ENSRNOG00060004833 RatGTEx
  ENSRNOG00065025151 RatGTEx
SMART CBM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DSPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52799 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8L2QTS7 ENTREZGENE, UniProtKB/TrEMBL
  EPM2A_RAT UniProtKB/Swiss-Prot
  F1LPW7 ENTREZGENE
  Q91XQ2 ENTREZGENE
UniProt Secondary F1LPW7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-04-10 Epm2a  EPM2A glucan phosphatase, laforin  Epm2a  EPM2A, laforin glucan phosphatase  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2017-08-18 Epm2a  EPM2A, laforin glucan phosphatase  Epm2a  epilepsy, progressive myoclonus type 2A  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2013-04-17 Epm2a  epilepsy, progressive myoclonus type 2A  LOC684363  similar to Laforin (Lafora PTPase) (LAFPTPase)  Data merged from RGD:1591449 737654 PROVISIONAL
2009-12-15 Epm2a  epilepsy, progressive myoclonus type 2A  Epm2a  epilepsy, progressive myoclonic epilepsy, type 2 gene alpha  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2006-11-20 LOC684363  similar to Laforin (Lafora PTPase) (LAFPTPase)      Symbol and Name status set to provisional 70820 PROVISIONAL
2002-07-09 Epm2a  epilepsy, progressive myoclonic epilepsy, type 2 gene alpha      Symbol and Name updated to reflect Human and Mouse nomenclature 70877 APPROVED

RGD Curation Notes
Note Type Note Reference
gene_disease mutations are associated with Lafora's disease, an autosomal recessive progressive myoclonus epilepsy 70733
gene_expression present in the cerebellum, hippocampus, cerebral cortex, and the olfactory bulb, expression is highest in the adults 70733
gene_homology 94% similar to the human and mouse ortholog 70733
gene_process involved in maturation and growth of the neural tissues 70733