IRF2BPL (interferon regulatory factor 2 binding protein like)

2014-11-01  

Identity

HGNC
LOCATION
14q24.3
LOCUSID
ALIAS
C14orf4,EAP1,NEDAMSS

Other Information

Locus ID:

NCBI: 64207
MIM: 611720
HGNC: 14282
Ensembl: ENSG00000119669

Variants:

dbSNP: 64207
ClinVar: 64207
TCGA: ENSG00000119669
COSMIC: IRF2BPL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119669ENST00000238647Q9H1B7

Expression (GTEx)

0
50
100
150

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
176273012007Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis.41
301666282019De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.2

Citation

Dessen P

IRF2BPL (interferon regulatory factor 2 binding protein like)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64663/irf2bpl