ZNF469

This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. [provided by RefSeq, Jul 2008]

Description

Zinc finger protein 469

Tissue specificity

Tissue enhanced (brain)

Subcell location

Nucleoplasm, Cell Junctions

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)
Transcription factors

Chromosome

16 (88382959 - 88440757)

Ensembl ID

ENSG00000225614  (ver. 103.38)

Orthologs

Mouse Zfp469: ENSMUSG00000043903

UniProt

Q96JG9

neXtProt

NX_Q96JG9

Human splice variants
Mouse splice variants

Protein structure