RBP Type	Non-canonical_RBPs
Diseases	Disease
Drug	N.A.
Main interacting RNAs	N.A.
Moonlighting functions	Metabolic enzyme
Localizations	N.A.
BulkPerturb-seq

Ensembl ID	ENSG00000112425	Gene ID	7957	Accession	3413
Symbol	EPM2A	Alias	EPM2;MELF	Full Name	EPM2A glucan phosphatase, laforin
Status	Confidence	Length	353489 bases	Strand	Minus strand
Position	6 : 145382535 - 145736023	RNA binding domain	N.A.
Summary	This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018]

Protein	Domain	Pfam ID	E-value	Domain number

Pubmed ID	Full Name	Cell	Author	Time	Doi

Pubmed ID	Title	Author	Time	Journal

Name	Transcript ID	bp	Protein	Translation ID
EPM2A-211	ENST00000638717	2118	209aa	ENSP00000491330
EPM2A-203	ENST00000450221	659	144aa	ENSP00000414900
EPM2A-220	ENST00000639799	3649	No protein	-
EPM2A-214	ENST00000639049	3335	127aa	ENSP00000491590
EPM2A-216	ENST00000639423	2886	193aa	ENSP00000492701
EPM2A-201	ENST00000367519	3129	331aa	ENSP00000356489
EPM2A-209	ENST00000638554	3045	134aa	ENSP00000492823
EPM2A-207	ENST00000611340	2786	193aa	ENSP00000480268
EPM2A-202	ENST00000435470	1278	317aa	ENSP00000405913
EPM2A-208	ENST00000638262	2679	224aa	ENSP00000492876
EPM2A-217	ENST00000639465	2203	193aa	ENSP00000491180
EPM2A-210	ENST00000638597	1873	No protein	-
EPM2A-225	ENST00000640351	1388	18aa	ENSP00000491251
EPM2A-223	ENST00000640225	1516	70aa	ENSP00000492179
EPM2A-215	ENST00000639106	5533	No protein	-
EPM2A-222	ENST00000639859	6926	No protein	-
EPM2A-228	ENST00000640980	647	86aa	ENSP00000491191
EPM2A-213	ENST00000638783	801	193aa	ENSP00000491338
EPM2A-212	ENST00000638778	813	193aa	ENSP00000491353
EPM2A-218	ENST00000639648	551	No protein	-
EPM2A-221	ENST00000639849	804	70aa	ENSP00000491224
EPM2A-205	ENST00000489412	497	No protein	-
EPM2A-206	ENST00000496228	560	No protein	-
EPM2A-224	ENST00000640297	374	No protein	-
EPM2A-226	ENST00000640426	752	No protein	-
EPM2A-204	ENST00000461700	555	No protein	-
EPM2A-227	ENST00000640898	322	No protein	-
EPM2A-219	ENST00000639649	849	No protein	-

Pathway ID	Pathway Name	Source

ensgID	Trait	pValue	Pubmed ID

ensgID	SNP	Chromosome	Position	Trait	PubmedID	Or or BEAT	EFO ID

Ensembl ID	Source				Target
	Species	Protein ID	Perc_pos	Perc_id	Species	Protein ID	Perc_pos	Perc_id

Ensembl ID	Source				Target
	Species	Protein ID	Perc_pos	Perc_id	Species	Protein ID	Perc_pos	Perc_id

Go ID	Go term	No. evidence	Entries	Species	Category
GO:0005515	enables protein binding	1	IPI	Homo_sapiens(9606)	Function
GO:0005634	located_in nucleus	1	IEA	Homo_sapiens(9606)	Component
GO:0016239	acts_upstream_of_or_within positive regulation of macroautophagy	1	IMP	Homo_sapiens(9606)	Process
GO:0032007	acts_upstream_of_or_within negative regulation of TOR signaling	1	IMP	Homo_sapiens(9606)	Process