ZNF423

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]

Description

Zinc finger protein 423

Tissue specificity

Tissue enhanced (brain, skeletal muscle)

Subcell location

Nucleoplasm

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transcription factors

Chromosome

16 (49487524 - 49857919)

Ensembl ID

ENSG00000102935  (ver. 103.38)

Orthologs

Mouse Zfp423: ENSMUSG00000045333

UniProt

Q2M1K9

neXtProt

NX_Q2M1K9

Human splice variants
Mouse splice variants

Protein structure