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Gene: Epm2a (EPM2A glucan phosphatase, laforin) Ictidomys tridecemlineatus

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Symbol:

Epm2a

Name:

EPM2A glucan phosphatase, laforin

RGD ID:

12574765

Description:

ENCODES a protein that exhibits glycogen binding (ortholog); phosphatase activity (ortholog); protein dimerization activity (ortholog); INVOLVED IN dephosphorylation (ortholog); glycogen biosynthetic process (ortholog); negative regulation of dephosphorylation (ortholog); ASSOCIATED WITH benign epilepsy with centrotemporal spikes (ortholog); cataract (ortholog); epilepsy (ortholog); FOUND IN cytoplasm (inferred); cytoplasmic side of endoplasmic reticulum membrane (inferred); cytoplasmic side of rough endoplasmic reticulum membrane (inferred)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin); EPM2A, laforin glucan phosphatase; laforin

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

SpeTri2.0 - Squirrel SpeTri2.0 Assembly

Position:

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404946	131,813,991 - 131,874,561 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936625	738,124 - 821,566 (+)	Ensembl		SpeTri2.0 Ensembl
SpeTri2.0	NW_004936625	761,013 - 819,826 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

benign epilepsy with centrotemporal spikes (ISO)

cataract (ISO)

epilepsy (ISO)

genetic disease (ISO)

intellectual disability (ISO)

Lafora disease (ISO)

microcephaly (ISO)

Myoclonic Epilepsies (ISO)

Myoclonic Epilepsy of Lafora 1 (ISO)

Nervous System Malformations (ISO)

progressive myoclonus epilepsy (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

autophagosome assembly (IEA)

autophagy (IEA)

calcium ion transport (IEA)

carbohydrate phosphorylation (IEA)

dephosphorylation (ISO)

glial cell proliferation (IEA)

glucan metabolic process (IEA)

glycogen biosynthetic process (IEA,ISO)

glycogen metabolic process (IEA)

habituation (IEA)

L-glutamate transmembrane transport (IEA)

mitochondrion organization (IEA)

negative regulation of cell cycle (IEA)

negative regulation of dephosphorylation (ISO)

negative regulation of gene expression (IEA)

negative regulation of peptidyl-serine phosphorylation (ISO)

negative regulation of phosphatase activity (ISO)

negative regulation of TOR signaling (ISO)

nervous system development (IEA)

peptidyl-tyrosine dephosphorylation (ISO)

positive regulation of macroautophagy (IEA)

proteasome-mediated ubiquitin-dependent protein catabolic process (IEA)

protein dephosphorylation (ISO)

regulation of cell growth (IEA)

regulation of gene expression (IEA)

regulation of glycogen (starch) synthase activity (ISO)

regulation of phosphorylation (ISO)

regulation of proteasomal protein catabolic process (IEA)

regulation of protein import into nucleus (IEA)

regulation of protein kinase activity (ISO)

regulation of protein localization to plasma membrane (IEA)

regulation of protein phosphorylation (ISO)

regulation of protein ubiquitination (IEA)

regulation of ubiquitin protein ligase activity (ISO)

Wnt signaling pathway (IEA)

Cellular Component

cytoplasm (IEA)

cytoplasmic side of endoplasmic reticulum membrane (IEA)

cytoplasmic side of rough endoplasmic reticulum membrane (IEA)

cytosol (IEA)

dendrite (IEA)

nucleoplasm (IEA)

nucleus (IEA)

perikaryon (IEA)

Molecular Function

alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity (IEA)

carbohydrate binding (IEA)

carbohydrate phosphatase activity (IEA)

glycogen binding (IEA,ISO)

hydrolase activity (IEA)

identical protein binding (IEA)

phosphatase activity (IEA,ISO)

phosphoprotein phosphatase activity (IEA)

polysaccharide binding (IEA)

protein binding (ISO)

protein dimerization activity (ISO)

protein homodimerization activity (IEA)

protein serine/threonine phosphatase activity (IEA)

protein tyrosine phosphatase activity (IEA)

starch binding (IEA)

References

Additional References at PubMed

PMID:22301074	PMID:30032202

Genomics

Comparative Map Data

Epm2a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404946	131,813,991 - 131,874,561 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936625	738,124 - 821,566 (+)	Ensembl		SpeTri2.0 Ensembl
SpeTri2.0	NW_004936625	761,013 - 819,826 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

EPM2A
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	145,383,353 - 145,736,023 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	145,382,535 - 145,736,023 (-)	Ensembl			hg38	GRCh38
GRCh37	6	145,946,441 - 146,057,159 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	145,988,133 - 146,098,684 (-)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	6	145,988,132 - 146,098,684	NCBI
Celera	6	146,686,800 - 146,797,348 (-)	NCBI		Celera
Cytogenetic Map	6	q24.3	NCBI
HuRef	6	143,510,000 - 143,620,189 (-)	NCBI		HuRef
CHM1_1	6	146,209,644 - 146,320,201 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	6	146,574,195 - 146,956,629 (-)	NCBI		T2T-CHM13v2.0

Epm2a
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	10	11,218,435 - 11,335,408 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	10	11,219,148 - 11,335,388 (+)	Ensembl		GRCm39 Ensembl		GRCm39
GRCm38	10	11,342,691 - 11,459,664 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	10	11,343,404 - 11,459,644 (+)	Ensembl			mm10	GRCm38
MGSCv37	10	11,063,243 - 11,177,275 (+)	NCBI	MGSCv37	MGSCv37	mm9	NCBIm37
MGSCv36	10	11,033,594 - 11,147,912 (+)	NCBI		MGSCv36	mm8
Celera	10	11,232,470 - 11,346,997 (+)	NCBI		Celera
Cytogenetic Map	10	A1	NCBI
cM Map	10	3.66	NCBI

Epm2a
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	7,547,369 - 7,673,449 (+)	NCBI	GRCr8	GRCr8		GRCr8
GRCr8 Ensembl	1	7,547,342 - 7,669,604 (+)	Ensembl				GRCr8
mRatBN7.2	1	5,727,111 - 5,845,338 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	5,727,066 - 5,920,555 (+)	Ensembl				mRatBN7.2
UTH_Rnor_SHR_Utx	1	5,419,467 - 5,535,147 (+)	NCBI	UTH_Rnor_SHR_Utx	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	11,419,821 - 11,535,500 (+)	NCBI	UTH_Rnor_SHRSP_BbbUtx_1.0	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	5,701,665 - 5,817,345 (+)	NCBI	UTH_Rnor_WKY_Bbb_1.0	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	5,448,958 - 5,571,512 (+)	NCBI	Rnor_6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	5,448,958 - 5,571,512 (+)	Ensembl			rn6	Rnor6.0
Rnor_5.0	1	7,100,639 - 7,223,403 (+)	NCBI	Rnor_5.0	Rnor_5.0	rn5
Celera	1	4,243,803 - 4,360,561 (+)	NCBI		Celera
RGSC_v3.1	1	6,051,557 - 6,172,313 (+)	NCBI
Cytogenetic Map	1	p13	NCBI

Epm2a
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955436	14,926,123 - 14,983,180 (+)	Ensembl
ChiLan1.0	NW_004955436	14,925,452 - 14,982,357 (+)	NCBI	ChiLan1.0	ChiLan1.0

EPM2A
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	5	165,625,021 - 165,749,502 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	6	163,278,722 - 163,622,838 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	6	143,179,097 - 143,525,223 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	6	148,133,563 - 148,238,519 (-)	NCBI	PanPan1.1	PanPan1.1	panPan2

EPM2A
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	36,835,775 - 36,977,653 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	1	36,870,594 - 36,931,847 (-)	Ensembl			canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	37,577,467 - 37,858,360 (-)	NCBI	Dog10K_Boxer_Tasha	Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	36,862,309 - 37,141,316 (-)	NCBI	ROS_Cfam_1.0	ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	37,028,269 - 37,141,626 (-)	Ensembl				ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	36,732,602 - 37,013,661 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	36,604,089 - 36,884,723 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	37,104,772 - 37,201,859 (-)	NCBI	UU_Cfam_GSD_1.0	UU_Cfam_GSD_1.0

EPM2A
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	19,806,765 - 19,893,339 (+)	Ensembl			susScr11	Sscrofa11.1
Sscrofa11.1	1	19,806,363 - 19,893,350 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	22,050,546 - 22,135,943 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

EPM2A
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	13	26,152,974 - 26,266,676 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	13	26,153,319 - 26,264,568 (+)	Ensembl		ChlSab1.1 Ensembl	chlSab2	Vervet-AGM
Vero_WHO_p1.0	NW_023666040	202,127,578 - 202,247,016 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Epm2a
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624753	8,715,898 - 8,804,194 (+)	Ensembl		HetGla_female_1.0 Ensembl	hetGla2	HetGla_female_1.0 Ensembl
HetGla 1.0	NW_004624753	8,715,898 - 8,805,728 (+)	NCBI	HetGla 1.0	HetGla 1.0	hetGla2

Epm2a
(Rattus rattus - black rat)

Black Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Black Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Rrattus_CSIRO_v1	2	225,773,934 - 225,887,386 (-)	NCBI		Rrattus_CSIRO_v1

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_021732923	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_040283426	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JAESOR010000005	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSSTOT00000028398 ⟹ ENSSTOP00000023528

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
SpeTri2.0 Ensembl	NW_004936625	738,124 - 821,566 (+)	Ensembl

RefSeq Acc Id:

XM_021732923 ⟹ XP_021588598

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024404946	131,813,991 - 131,874,561 (-)	NCBI
SpeTri2.0	NW_004936625	761,013 - 819,826 (+)	NCBI

Sequence:

show sequence

ATGGCCTTGTGCATGTGAGGCAATGGGCCTCACCATGACCGTTGCTGTACTTACAATGAAAACA
ACTTGGTGGATGGCGTTTATTGTCTCCCCATAGGACACTGGATTGAGGCCACTGGACACACCAA
TGAGATGAAGCATACCACAGACTTCTATTTTAATATTGCAGGCCACCAAGCTATGCATTATTCA
AGAATTTTACCAAATATCTGGCTGGGTAGTTGCCCCCGCCAAGTGGAACATGTAACCATCAAAC
TGAAGCATGAGTTGGGGATCACGGCTGTCATGAATTTCCAGACGGAATGGGATATTGTCCAGAA
TTCCTCCGGCTGTAACCGCTACCCGGAACCCATGAGTCCAGACACTATGATTAAGCTGTATAAG
GAAGAAGGTTTGGTCTACATCTGGATGCCAACACCAGACATGAGCACTGAAGGCCGAGTGCAGA
TGCTACCGCAGGCAGTGTGTCTCCTGCACGCGCTTCTGGAGAATGGACACACCGTGTATGTTCA
CTGCAACGCAGGGGTGGGCCGCTCCACCGCCGCGGTCTGCGGCTGGCTCCACTACGTGCTGGGC
TGGAATCTGAGGAAGGTGCAGTACTTTGTCATGGCCAAGAGGCCAGTGGTGTTCATTGATGAAG
ACGCCTTGGCCCGGGCACAAGAGGACTTTTTCCAGAAATTTGGGAAGATTCATTCTTCGGTGTG
TAGTCTGTAGCTGGCCAAGCTGCCTCCCCTTCCTCCCAGTTTTCTTAAGGATCCTGGAGTGATG
TTAGGAAAATGACCTAGAAACAAAAGCCCCACTTGAACTGGGAGGACTATGGTGGGTGTTCCTC
CAAGCTGCTCCTGTGCTGCTGGGAGTGGCTTTCCATCAGGCGTTGGGCTGTACTTTACAAAGGA
AGCTATGATTGACACAGGAGAAAGGCCGAAAGCAGCTGGGTTGTGCAATGTTGTTATAGCATCA
GACACAAAAAGAATGCACGCAGTCCCGGCTGCCTGCGGGCAGAAGAGTCTTTTGCTTCACAGGT
ACTGCGTGGGCTGTAGCATAGATTTGTAAGGGCAATTTCTCCTTGCATTGTGATTCTTTGACAT
GCAAAATTAAAGATCGCAGGTTATGTGGCTCTCA

hide sequence

RefSeq Acc Id:

XM_040283426 ⟹ XP_040139360

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024404946	131,813,991 - 131,871,658 (-)	NCBI

Protein Sequences


Protein RefSeqs	XP_021588598	(Get FASTA)	NCBI Sequence Viewer
	XP_040139360	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSSTOP00000023528.2
GenBank Protein	KAG3290392	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	XP_021588598 ⟸ XM_021732923
- UniProtKB:	I3NGN1 (UniProtKB/TrEMBL)
- Sequence:	show sequence MKHTTDFYFNIAGHQAMHYSRILPNIWLGSCPRQVEHVTIKLKHELGITAVMNFQTEWDIVQNS SGCNRYPEPMSPDTMIKLYKEEGLVYIWMPTPDMSTEGRVQMLPQAVCLLHALLENGHTVYVHC NAGVGRSTAAVCGWLHYVLGWNLRKVQYFVMAKRPVVFIDEDALARAQEDFFQKFGKIHSSVCS L hide sequence

RefSeq Acc Id:	XP_040139360 ⟸ XM_040283426
- UniProtKB:	I3NGN1 (UniProtKB/TrEMBL)

Ensembl Acc Id:

ENSSTOP00000023528 ⟸ ENSSTOT00000028398

Protein Domains

Tyrosine specific protein phosphatases Tyrosine-protein phosphatase

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSSTOG00000025670	Ensembl, UniProtKB/TrEMBL
Ensembl Transcript	ENSSTOT00000028398.2	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	I3NGN1	ENTREZGENE, 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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - OMIM

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM