ZNF148 gene

zinc finger protein 148

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

From NCBI Gene:

The protein encoded by this gene is a member of the Kruppel family of zinc finger DNA binding proteins. The encoded protein activates transcription of the T-cell receptor and intestinal alkaline phosphatase genes but represses transcription of the ornithine decarboxylase, vimentin, gastrin, stomelysin, and enolase genes. Increased expression of this gene results in decreased patient survival rates from colorectal cancer, while mutations in this gene have been associated with global developmental delay, hypoplastic corpus callosum, and dysmorphic facies. [provided by RefSeq, Feb 2017]

From UniProt:

Involved in transcriptional regulation. Represses the transcription of a number of genes including gastrin, stromelysin and enolase. Binds to the G-rich box in the enhancer region of these genes.

From NCBI Gene:

  • GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES

From UniProt:

Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies (GDACCF): An autosomal dominant syndrome characterized by underdevelopment of the corpus callosum, mild to moderate developmental delay and intellectual disability, variable microcephaly or mild macrocephaly, short stature, feeding problems, facial dysmorphisms, and cardiac and renal malformations. [MIM:617260]

Cytogenetic Location: 3q21.2, which is the long (q) arm of chromosome 3 at position 21.2

Molecular Location: base pairs 125,225,669 to 125,375,354 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q21.2, which is the long (q) arm of chromosome 3 at position 21.2
  • BERF-1
  • BFCOL1
  • GDACCF
  • HT-BETA
  • pHZ-52
  • ZBP-89
  • ZFP148