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ZNFX1
Identifiers
Aliases	ZNFX1, zinc finger NFX1-type containing 1, IMD91
External IDs	MGI: 2138982; HomoloGene: 10877; GeneCards: ZNFX1; OMA:ZNFX1 - orthologs
Gene location (Human) Chr. Chromosome 20 (human) Band 20q13.13 Start 49,237,946 bp End 49,278,426 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 H3 Start 166,877,713 bp End 166,904,935 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cardiac muscle tissue of right atrium myocardium of left ventricle cartilage tissue nasal epithelium skin of arm pancreatic ductal cell decidua tibialis anterior muscle saphenous vein blood Top expressed in zygote secondary oocyte granulocyte superior frontal gyrus stroma of bone marrow muscle of thigh primary visual cortex cardiac muscle tissue of left ventricle primary oocyte dentate gyrus of hippocampal formation granule cell More reference expression data BioGPS n/a
Gene ontology Molecular function metal ion binding DNA-binding transcription factor activity zinc ion binding RNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus chromosome, centromeric region nuclear RNA-directed RNA polymerase complex Biological process regulation of transcription, DNA-templated regulation of transcription by RNA polymerase II heterochromatin assembly by small RNA Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 57169 98999 Ensembl ENSG00000124201 ENSMUSG00000039501 UniProt Q9P2E3 Q8R151 RefSeq (mRNA) NM_021035 NM_001033196 NM_001291162 RefSeq (protein) NP_066363 NP_001028368 NP_001278091 Location (UCSC) Chr 20: 49.24 – 49.28 Mb Chr 2: 166.88 – 166.9 Mb PubMed search
Wikidata
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Zinc finger NFX1-type containing 1 is a protein that in humans is encoded by the ZNFX1 gene.

Clinical significance

ZNFX1 deficiency in humans is associated with severe multisystem inflammatory disease. Affected individuals may develop liver, lung or kidney failure, seizures and hemophagocytic lymphohistiocytosis (HLH) upon viral infections. Intermittent monocytosis is a hallmark laboratory finding in ZNFX1 deficiency. The disorder is thought to result from alterations in the half-life of the mRNA of interferon-stimulated genes (ISG) and is also associated with poorer clearance of viral infections in monocytes.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000124201 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000039501 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Zinc finger NFX1-type containing 1". Retrieved 2017-11-10.
6. Vavassori S, Chou J, Faletti LE, Haunerdinger V, Opitz L, Joset P, et al. (August 2021). "Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency". The Journal of Allergy and Clinical Immunology. 148 (2): 381–393. doi:10.1016/j.jaci.2021.03.045. PMC 8569286. PMID 33872655.

Further reading

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