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EPM2AIP1

GENERAL INFORMATION

Gene name

 EPM2AIP1

Gene description

 EPM2A (laforin) interacting protein 1

Protein class

 Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 3
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

DATA RELIABILITY

Reliability score

 Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
N/A
Hippocampus
N/A
N/A
Caudate
N/A
N/A
Cerebellum
N/A
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Appendix
N/A
Tonsil
N/A
Spleen
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Oral mucosa
N/A
N/A
Esophagus
N/A
Stomach
N/A
Duodenum
N/A
Colon
N/A
Rectum
N/A
Kidney & urinary bladder
N/A
Kidney
N/A
Male tissues
N/A
Testis
N/A
Prostate
N/A
Female tissues
N/A
Breast
N/A
Vagina
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Soft tissue
N/A
N/A
Skin
N/A
Skin
N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 EPM2AIP1 (HGNC Symbol)

Synonyms

 FLJ11207, KIAA0766

Description

 EPM2A (laforin) interacting protein 1 (HGNC Symbol)

Entrez gene 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, Oct 2008]

Chromosome

 3

Cytoband

 p22.2

Chromosome location (bp)

 36985043 - 36993168

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000178567 (version 83.38)

Entrez gene

 9852

UniProt

 Q7L775 (UniProt - Evidence at protein level)

neXtProt

 NX_Q7L775

Antibodypedia

 EPM2AIP1 antibodies

PROTEIN BROWSER
EPM2AIP1-001
EPM2AIP1-002
EPM2AIP1-003

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
EPM2AIP1-001
ENSP00000406027
ENST00000322716
Q7L775 [Direct mapping]
EPM2A-interacting protein 1
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005783 [endoplasmic reticulum]
GO:0032868 [response to insulin]
GO:0045725 [positive regulation of glycogen biosynthetic process]
GO:2000467 [positive regulation of glycogen (starch) synthase activity]
Show all
 607 aa
70.4 kDa 		No 0
EPM2AIP1-002
ENSP00000485489
ENST00000623924
A0A096LPB0 [Direct mapping]
EPM2A-interacting protein 1
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 42 aa
5.3 kDa 		No 0
EPM2AIP1-003
ENSP00000485091
ENST00000624586
A0A096LNL1 [Direct mapping]
EPM2A-interacting protein 1
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 139 aa
16.4 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.