ZBTB16 gene

zinc finger and BTB domain containing 16

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene is a member of the Krueppel C2H2-type zinc-finger protein family and encodes a zinc finger transcription factor that contains nine Kruppel-type zinc finger domains at the carboxyl terminus. This protein is located in the nucleus, is involved in cell cycle progression, and interacts with a histone deacetylase. Specific instances of aberrant gene rearrangement at this locus have been associated with acute promyelocytic leukemia (APL). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

From UniProt:

Probable transcription factor. May play a role in myeloid maturation and in the development and/or maintenance of other differentiated tissues. Probable substrate-recognition component of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Skeletal defects, genital hypoplasia, and mental retardation

From UniProt:

Skeletal defects, genital hypoplasia, and mental retardation (SGYMR): A disorder characterized by mental retardation, craniofacial dysmorphism, microcephaly and short stature. Additional features include absence of the thumbs, hypoplasia of the radii and ulnae, additional vertebrae and ribs, retarded bone age and genital hypoplasia. [MIM:612447]

A chromosomal aberration involving ZBTB16 may be a cause of acute promyelocytic leukemia (APL). Translocation t(11;17)(q32;q21) with RARA.

Cytogenetic Location: 11q23.1, which is the long (q) arm of chromosome 11 at position 23.1

Molecular Location: base pairs 114,059,576 to 114,256,765 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q23.1, which is the long (q) arm of chromosome 11 at position 23.1
  • PLZF
  • ZNF145