ZNF592
Identifiers
Aliases	ZNF592, CAMOS, SCAR5, zinc finger protein 592
External IDs	OMIM: 613624 MGI: 2443541 HomoloGene: 8759 GeneCards: ZNF592
Gene location (Human) Chr. Chromosome 15 (human)[1] Band 15q25.3 Start 84,748,592 bp[1] End 84,806,445 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 D3 Start 80,643,429 bp[2] End 80,694,912 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pancreatic ductal cell tibialis anterior muscle gastrocnemius muscle bone marrow cells blood sural nerve deltoid muscle islet of Langerhans monocyte stromal cell of endometrium Top expressed in secondary oocyte otolith organ utricle ciliary body hand thymus spermatocyte spleen proximal tubule ascending aorta More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding protein binding metal ion binding nucleic acid binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process regulation of transcription, DNA-templated transcription, DNA-templated regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9640 233410 Ensembl ENSG00000166716 ENSMUSG00000005621 UniProt Q92610 Q8BHZ4 RefSeq (mRNA) NM_014630 NM_178707 RefSeq (protein) NP_055445 NP_848822 Location (UCSC) Chr 15: 84.75 – 84.81 Mb Chr 7: 80.64 – 80.69 Mb PubMed search [3] [4]
Wikidata
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Zinc finger protein 592 is a protein that in humans is encoded by the ZNF592 gene. ^[5]

Function

This gene is thought to play a role in a complex developmental pathway and the regulation of genes involved in cerebellar development. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia.

References

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.