Gene Gene information from NCBI Gene database.
Entrez ID 9852
Gene name EPM2A interacting protein 1
Gene symbol EPM2AIP1
Synonyms (NCBI Gene)
-
Chromosome 3
Chromosome location 3p22.2
Summary The EPM2A gene, which encodes laforin, is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy. The protein encoded by this gene binds to laforin, but its function is not known. This gene is intronless. [provided by RefSeq,
miRNA miRNA information provided by mirtarbase database.
936
miRTarBase ID miRNA Experiments Reference
MIRT026346 hsa-miR-192-5p Microarray 19074876
MIRT044524 hsa-miR-320a CLASH 23622248
MIRT038048 hsa-miR-423-5p CLASH 23622248
MIRT036766 hsa-miR-760 CLASH 23622248
MIRT036196 hsa-miR-320b CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 25910212, 31515488, 32296183, 33961781
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005978 Process Glycogen biosynthetic process IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607911 19735 ENSG00000178567
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7L775
Protein name EPM2A-interacting protein 1 (Laforin-interacting protein)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18658 zf-C2H2_12 19 83 Spin-doc zinc-finger Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, brain, placenta, liver, pancreas, kidney and skeletal muscle. {ECO:0000269|PubMed:12782127}.
Sequence
MWMTPKRSKMEVDEALVFRPEWTQRYLVVEPPEGDGALCLVCRRLIVATRERDVRRHYEA
EHEYYERYVADGERAALVERLRQ
GDLPVASFTPEERAARAGLGLCRLLALKGRGWGEGDF
VYQCMEVLLREVLPEHVSVLQGVDLSPDITRQRILSIDRNLRNQLFNRARDFKAYSLALD
DQAFVAYENYLLVFIRGVGPELEVQEDLLTIINLTHHFSVGALMSAILESLQTAGLSLQR
MVGLTTTHTLRMIGENSGLVSYMREKAVSPNCWNVIHYSGFLHLELLSSYDVDVNQIINT
ISEWIVLIKTRGVRRPEFQTLLTESESEHGERVNGRCLNNWLRRGKTLKLIFSLRKEMEA
FLVSVGATTVHFSDKQWLCDFGFLVDIMEHLRELSEELRVSKVFAAAAFDHICTFEVKLN
LFQRHIEEKNLTDFPALREVVDELKQQNKEDEKIFDPDRYQMVICRLQKEFERHFKDLRF
IKKDLELFSNPFNFKPEYAPISVRVELTKLQANTNLWNEYRIKDLGQFYAGLSAESYPII
KGVACKVASLFDSNQICEKAFSYLTRNQHTLSQPLTDEHLQALFRVATTEMEPGWDDLVR
ERNESNP
Sequence length 607
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
HYPOTHYROIDISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Colorectal Neoplasms Colorectal neoplasm Pubtator 31200767 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 24105770 Associate
★☆☆☆☆
Found in Text Mining only
Lafora Disease Lafora Disease BEFREE 12782127, 15102711
★☆☆☆☆
Found in Text Mining only