Zinc Finger And BTB Domain Containing 24

Alternative Names

  • ZBTB24
  • Zinc Finger Protein 450
  • POZ (BTB) And AT Hook Containing Zinc Finger 2
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OMIM Number

614064

NCBI Gene ID

9841

Uniprot ID

O43167

Length

20722 bases

No. of Exons

7

No. of isoforms

2

Protein Name

Zinc finger and BTB domain-containing protein 24

Molecular Mass

78282Da

Amino Acid Count

697

Genomic Location

chr6:109462516-109483237

Gene Map Locus
6q21

Description

The ZBTB24 gene is located on the long arm of chromosome 6 (6q21) and it encodes zinc finger and BTB domain-containing protein 24, which belongs to the krueppel C2H2-type zinc-finger protein family. Widely expressed with highest levels in naive B cells, ZBTB24 protein consists of a BTB (bric-a-bric, tramtrack, broad complex)-domain, a DNA-binding A-T hook domain, and eight C2H2 zinc finger domains. It is involved in hematopoietic progenitor cell differentiation, transcriptional regulation, and DNA methylation.

Mutations in ZBTB24 is associated with Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 (ICF2).

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_014797.2:c.396_397delLebanonNC_000006.12:g.109481631_109481632delPathogenicImmunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2NG_029388.1:g.6607_6608del; NM_014797.2:c.396_397del; NP_055612.2:p.His132fs156230505840181
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