ZNF423 Gene Summary [Human]

The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development. Mutations in this gene are associated with nephronophthisis-14 and Joubert syndrome-19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2012]

Details

Type
Protein Coding
Official Symbol
ZNF423
Official Name
zinc finger protein 423 [Source:HGNC Symbol;Acc:HGNC:16762]
Ensembl ID
ENSG00000102935
Bio databases IDs NCBI: 23090 Ensembl: ENSG00000102935
Aliases zinc finger protein 423, OLF-1/EBF associated zinc finger gene, Smad- and Olf-interacting zinc finger protein, early B-cell factor associated zinc finger protein
Synonyms ataxia1, AZ1, Ebfaz, hOAZ, JBTS19, mKIAA0760, NPHP14, nur12, OAZ, Olf1-Ebf associated zinc finger factor, Roaz, ZFP104, ZFP423, zinc finger protein 423
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ZNF423 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • transcription regulator
  • binding protein
  • protein binding
  • zinc finger domain
  • sequence-specific DNA binding
  • identical protein binding

Pathways

Biological processes and signaling networks where the ZNF423 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • hypertension
  • COVID-19
  • Joubert syndrome type 19
  • colorectal cancer
  • focal cortical dysplasia type I
  • gait disturbance
  • idiopathic scoliosis
  • organismal death
  • Waldenström macroglobulinemia
  • male pattern hair loss
regulated by
regulates
role in cell
  • apoptosis
  • proliferation
  • differentiation
  • development
  • assembly
  • maturation
  • arrangement
  • transactivation in
  • abnormal morphology
  • mislocalization

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nucleoplasm

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human ZNF423 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • positive regulation of BMP signaling pathway
  • Notch signaling pathway
  • negative regulation of transcription, DNA-dependent
  • positive regulation of transcription, DNA-dependent
  • nervous system development
  • cell differentiation
  • regulation of transcription, DNA-dependent
  • regulation of transcription from RNA polymerase II promoter

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • metal ion binding
  • RNA polymerase II core promoter proximal region sequence-specific DNA binding
  • sequence-specific DNA binding
  • sequence-specific DNA binding RNA polymerase II transcription factor activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.