ZNF423
Sign in to saveAlso known as Ebfaz, JBTS19, NPHP14, OAZ, Roaz, ZFP423, Zfp104, hOAZ
Zinc finger protein 423 is a protein that in humans is encoded by the ZNF423 gene.
Gene data
ZNF423- Name
- zinc finger protein 423
- Type
- protein-coding
- Position
- 49,487,524–49,857,919 (−)
- Aliases
- Ebfaz, JBTS19, NPHP14, OAZ, Roaz, ZFP423, Zfp104, hOAZ
- Ensembl
- ENSG00000102935
- RefSeq RNA
- NM_001271620.2, NM_001330533.2, NM_001379286.1, NM_015069.5, XM_005255856.5
- RefSeq protein
- NP_001258549.1, NP_001317462.1, NP_001366215.1, NP_055884.2, XP_005255913.1
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].
Gene Ontology
Biological process
Molecular function
Cellular component
Pathways
via MyGene.info
Gene · Ensembl
zinc finger protein 423
- Symbol
- ZNF423
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 16:49,487,524-49,857,919
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 9010
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/23090
- genomic end
- 49891830
- genomic start
- 49521435
- chromosome
- human chromosome 16
- cytogenetic location
- 16q12.1
Sources (4)
via Wikidata · CC0
~1 min read
Encyclopedic overview
4 sectionsContents
- Interactions
- References
- Further reading
- External links
Zinc finger protein 423 is a protein that in humans is encoded by the ZNF423 gene.
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. Mice lacking the homologous gene Zfp423 have defects in midline brain development, especially in the cerebellum, as well as defects in olfactory development, and adipogenesis. Patients with mutations in ZNF423 have been reported in Joubert Syndrome and nephronophthisis.
Excerpted from Wikipedia’s “ZNF423” article, available under the CC BY-SA 4.0 licence.