ZNF423

Zinc finger protein 423 is a protein that in humans is encoded by the ZNF423 gene.^[5][6][7]

PDBOrtholog search: PDBe RCSB

AliasesZNF423, Ebfaz, JBTS19, NPHP14, OAZ, Roaz, ZFP423, Zfp104, hOAZ, zinc finger protein 423

External IDsOMIM: 604557; MGI: 1891217; HomoloGene: 9010; GeneCards: ZNF423; OMA:ZNF423 - orthologs

Chr.Chromosome 16 (human)^[1]

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ZNF423
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2MDG
Identifiers
Aliases	ZNF423, Ebfaz, JBTS19, NPHP14, OAZ, Roaz, ZFP423, Zfp104, hOAZ, zinc finger protein 423
External IDs	OMIM: 604557; MGI: 1891217; HomoloGene: 9010; GeneCards: ZNF423; OMA:ZNF423 - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16q12.1 Start 49,487,524 bp[1] End 49,857,919 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 C3 Start 88,388,438 bp[2] End 88,686,223 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Skeletal muscle tissue of biceps brachii cartilage tissue tail of epididymis ganglionic eminence skin of hip Skeletal muscle tissue of rectus abdominis optic nerve vastus lateralis muscle buccal mucosa cell caput epididymis Top expressed in tail of embryo genital tubercle medial dorsal nucleus dorsomedial hypothalamic nucleus zygote lateral septal nucleus lateral geniculate nucleus vestibular sensory epithelium secondary oocyte ventricular zone More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding protein binding metal ion binding nucleic acid binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity Cellular component nucleus nucleoplasm Biological process Notch signaling pathway positive regulation of transcription, DNA-templated multicellular organism development cell differentiation negative regulation of transcription, DNA-templated regulation of transcription, DNA-templated transcription, DNA-templated nervous system development positive regulation of BMP signaling pathway negative regulation of cold-induced thermogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23090 94187 Ensembl ENSG00000102935 ENSMUSG00000045333 UniProt Q2M1K9 Q80TS5 RefSeq (mRNA) NM_001271620 NM_015069 NM_001330533 NM_001379286 NM_033327 NM_001310520 RefSeq (protein) NP_001258549 NP_001317462 NP_055884 NP_001366215 NP_001297449 NP_201584 Location (UCSC) Chr 16: 49.49 – 49.86 Mb Chr 8: 88.39 – 88.69 Mb PubMed search [3] [4]
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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.^[7] Mice lacking the homologous gene Zfp423 have defects in midline brain development, especially in the cerebellum,^[8][9][10] as well as defects in olfactory development,^[11] and adipogenesis.^[12][13] Patients with mutations in ZNF423 have been reported in Joubert Syndrome and nephronophthisis.^[14]