ZBTB24 (zinc finger and BTB domain containing 24)

2017-04-01  

Identity

HGNC
ZBTB24
LOCATION
6q21
LOCUSID
9841
ALIAS
BIF1,ICF2,PATZ2,ZNF450
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9841
MIM: 614064
HGNC: 21143
Ensembl: ENSG00000112365

Variants:

dbSNP: 9841
ClinVar: 9841
TCGA: ENSG00000112365
COSMIC: ZBTB24

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112365ENST00000230122O43167

Expression (GTEx)

0
5
10
15
20
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
N/A

References

Pubmed IDYearTitleCitations
215963652011Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.45
234865362013Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.26
219060472012A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.17
237391262013Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients.12
274662022016Converging disease genes in ICF syndrome: ZBTB24 controls expression of CDCA7 in mammals.11
296598382018Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state.11
300851232018ZBTB24 is a transcriptional regulator that coordinates with DNMT3B to control DNA methylation.8
253307352014Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2).7
270986012016Downregulation of ZBTB24 hampers the G0/1- to S-phase cell-cycle transition via upregulating the expression of IRF-4 in human B cells.6
281284552017Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2.5

Citation

Dessen P

ZBTB24 (zinc finger and BTB domain containing 24)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56859/zbtb24