EPM2AIP1 (EPM2A interacting protein 1)

2014-11-01  

Identity

HGNC
EPM2AIP1
LOCATION
3p22.2
LOCUSID
9852
ALIAS
-

Other Information

Locus ID:

NCBI: 9852
MIM: 607911
HGNC: 19735
Ensembl: ENSG00000178567

Variants:

dbSNP: 9852
ClinVar: 9852
TCGA: ENSG00000178567
COSMIC: EPM2AIP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000178567ENST00000322716Q7L775
ENSG00000178567ENST00000623924A0A096LPB0
ENSG00000178567ENST00000624586A0A096LNL1

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
212069822011Functional effects of the MLH1-93G>A polymorphism on MLH1/EPM2AIP1 promoter activity.12
180951542008Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers.9
127821272003Identification of a novel protein interacting with laforin, the EPM2a progressive myoclonus epilepsy gene product.8

Citation

Dessen P

EPM2AIP1 (EPM2A interacting protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62863/epm2aip1