IRF2BPL (interferon regulatory factor 2 binding protein like)

2014-11-01  

Identity

HGNC
IRF2BPL
LOCATION
14q24.3
LOCUSID
64207
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
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
salivary gland
esophagus
stomach 1
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
spleen
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
384812582024De novo variants of IRF2BPL result in developmental epileptic disorder.0
386501042024Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation.0
384812582024De novo variants of IRF2BPL result in developmental epileptic disorder.0
386501042024Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation.0
371144792023IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.5
371144792023IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.5
348644722022Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration.5
348644722022Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration.5
341028262021[Clinical features of epilepsy in children with IRF2BPL gene variation].1
341028262021[Clinical features of epilepsy in children with IRF2BPL gene variation].1
317291442020IRF2BPL gene variants: One new case.3
317291442020IRF2BPL gene variants: One new case.3
301666282019De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.17
301666282019De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.17
176273012007Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis.52

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/cancer-prone-explorer/gene-explorer/favicon/favicon-32x32.png