IRF2BPL (interferon regulatory factor 2 binding protein like)

2014-11-01

Identity

HGNC

IRF2BPL

LOCATION

14q24.3

LOCUSID

64207

ALIAS

C14orf4,EAP1,NEDAMSS

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: 64207
MIM: 611720
HGNC: 14282
Ensembl: ENSG00000119669

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000119669	ENST00000238647	Q9H1B7

Expression (GTEx)

100

150

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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
17627301	2007	Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis.	52
30166628	2019	De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.	17
30166628	2019	De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.	17
31729144	2020	IRF2BPL gene variants: One new case.	3
31729144	2020	IRF2BPL gene variants: One new case.	3
34102826	2021	[Clinical features of epilepsy in children with IRF2BPL gene variation].	1
34102826	2021	[Clinical features of epilepsy in children with IRF2BPL gene variation].	1
34864472	2022	Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration.	5
34864472	2022	Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration.	5
37114479	2023	IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.	5

Previous1 2Next

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