IRF2BP2 (interferon regulatory factor 2 binding protein 2)

2011-10-01  

Identity

HGNC
IRF2BP2
LOCATION
1q42.3
LOCUSID
359948
ALIAS
CVID14
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 359948
MIM: 615332
HGNC: 21729
Ensembl: ENSG00000168264

Variants:

dbSNP: 359948
ClinVar: 359948
TCGA: ENSG00000168264
COSMIC: IRF2BP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168264ENST00000366609Q7Z5L9
ENSG00000168264ENST00000366610Q7Z5L9

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
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
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
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
360020762023LncRNA ATP1A1-AS1 inhibits cell proliferation and promotes cell apoptosis in thyroid carcinoma by regulating the miR-620/IRF2BP2 axis.1
364482182023A novel IRF2BP2::CDX2 Gene fusion in digital intravascular myoepithelioma of soft tissue: An enigma!3
378769372023Novel frameshift variants expand the map of the genetic defects in IRF2BP2.0
360020762023LncRNA ATP1A1-AS1 inhibits cell proliferation and promotes cell apoptosis in thyroid carcinoma by regulating the miR-620/IRF2BP2 axis.1
364482182023A novel IRF2BP2::CDX2 Gene fusion in digital intravascular myoepithelioma of soft tissue: An enigma!3
378769372023Novel frameshift variants expand the map of the genetic defects in IRF2BP2.0
311860822019The IRF2BP2-KLF2 axis regulates osteoclast and osteoblast differentiation.22
315596932019Down-regulation of interferon regulatory factor 2 binding protein 2 suppresses gastric cancer progression by negatively regulating connective tissue growth factor.8
311860822019The IRF2BP2-KLF2 axis regulates osteoclast and osteoblast differentiation.22
315596932019Down-regulation of interferon regulatory factor 2 binding protein 2 suppresses gastric cancer progression by negatively regulating connective tissue growth factor.8
278724982017The cryptic IRF2BP2-RARA fusion transforms hematopoietic stem/progenitor cells and induces retinoid-sensitive acute promyelocytic leukemia.15
278724982017The cryptic IRF2BP2-RARA fusion transforms hematopoietic stem/progenitor cells and induces retinoid-sensitive acute promyelocytic leukemia.15
270167982016Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder.26
270167982016Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder.26
261952192015IRF2BP2 Reduces Macrophage Inflammation and Susceptibility to Atherosclerosis.36

Citation

Dessen P

IRF2BP2 (interferon regulatory factor 2 binding protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2011-10-01

Online version: http://atlasgeneticsoncology.org/gene/52463/irf2bp2-(interferon-regulatory-factor-2-binding-protein-2)