EPM2AIP1 (EPM2A interacting protein 1)

2014-11-01 Affiliation

Identity

HGNC

EPM2AIP1

LOCATION

3p22.2

LOCUSID

9852

ALIAS

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000178567	ENST00000322716	Q7L775
ENSG00000178567	ENST00000623924	A0A096LPB0
ENSG00000178567	ENST00000624586	A0A096LNL1

Expression (GTEx)

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 ID	Year	Title	Citations
21206982	2011	Functional effects of the MLH1-93G>A polymorphism on MLH1/EPM2AIP1 promoter activity.	15
21206982	2011	Functional effects of the MLH1-93G>A polymorphism on MLH1/EPM2AIP1 promoter activity.	15
18095154	2008	Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers.	10
18095154	2008	Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers.	10
12782127	2003	Identification of a novel protein interacting with laforin, the EPM2a progressive myoclonus epilepsy gene product.	10
12782127	2003	Identification of a novel protein interacting with laforin, the EPM2a progressive myoclonus epilepsy gene product.	10

Citation

Dessen P

EPM2AIP1 (EPM2A interacting protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62863/epm2aip1-(epm2a-interacting-protein-1)