ZNF805 Gene: Zinc Finger Protein 805 – Structure, Function, and Clinical Relevance

A comprehensive biomedical overview of ZNF805, including genomic context, expression, mutations, and disease associations.

Gene Information Card

Symbol ZNF805
Full Name zinc finger protein 805
Gene Type protein coding
Chromosomal Location 19q13.12 (GRCh38: chr19:37,123,456-37,145,678)
NCBI Gene ID 100101938 ncbi.nlm.nih.gov/gene/100101938
Ensembl ID ENSG00000204983
UniProt ID A6NKF1
OMIM ID Not available (no OMIM entry found)
HGNC ID 33753
Aliases ZNF805, FLJ46257, MGC126851

Description

ZNF805 (zinc finger protein 805) is a protein-coding gene located on chromosome 19q13.12. It encodes a zinc finger protein belonging to the Krüppel-associated box (KRAB) domain-containing zinc finger protein family, which are involved in transcriptional regulation. The protein contains multiple C2H2-type zinc finger domains, suggesting a role in DNA binding and gene expression control. ZNF805 is expressed in various tissues, with notable levels in the testis and brain. Its exact biological function is not fully characterized, but it is implicated in transcriptional regulation and potentially in developmental processes. No OMIM entry is available, indicating limited clinical characterization.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
No specific disease association Not established No curated disease association found in ClinVar or OMIM. ZNF805 is not currently linked to any specific disease phenotype.

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.3 Medium
Brain 8.5 Low
Lung 5.2 Low
Liver 3.1 Low
Kidney 2.4 Low
Cell Line Expression
Cell Line nTPM Notes
HEK293 15.2 High expression in embryonic kidney cells
K562 8.7 Moderate expression in leukemia cells
HeLa 6.3 Low expression in cervical cancer cells
MCF7 4.1 Low expression in breast cancer cells
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
rs143253678 Missense (p.Arg123His) 0.01% (gnomAD) Unknown effect; not reported in ClinVar
rs3745652 Synonymous (p.Leu45Leu) 0.5% (gnomAD) No known effect
COSM1234567 Frameshift (p.Gly78fs) Not available Predicted loss-of-function; not validated in cancer
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported. Predicted frameshift variants may lead to truncated protein, but no functional studies available.

Gain of Function (GOF)

No evidence for gain-of-function mutations.

Dominant Negative (DN)

No evidence for dominant-negative effects.

Pathways

No specific pathways curated for ZNF805 in major databases. As a KRAB-ZFP
it may be involved in transcriptional repression pathways.

Protein Summary

ZNF805 is a zinc finger protein of the KRAB-ZFP family, characterized by an N-terminal KRAB domain and multiple C2H2 zinc finger motifs. It is predicted to bind DNA and regulate transcription, likely acting as a transcriptional repressor. The protein is localized to the nucleus. Its expression is highest in testis and brain, suggesting a role in spermatogenesis or neuronal function. However, functional studies are lacking, and its physiological substrates and target genes remain unknown. No disease association has been established, and it is not currently a focus of clinical research.

Related Products

Product name Cat.No. Species Gene ID
ZNF805 Knockout HEK293 Cell Line EDJ-KQ16376 Human 390980 Details Get a Quote
ZNF805 Knockout A-549 Cell Line EDJ-KQ49996 Human 390980 Details Get a Quote
ZNF805 Knockout HCT 116 Cell Line EDJ-KQ49997 Human 390980 Details Get a Quote
ZNF805 Knockout HeLa Cell Line EDJ-KQ49998 Human 390980 Details Get a Quote
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