ZNF837 Gene: Zinc Finger Protein 837 - Function, Disease Associations, and Expression
Explore the ZNF837 gene, a zinc finger protein with potential roles in transcriptional regulation and disease. Find curated data on expression, mutations, and pathways.
Gene Information Card
| Symbol | ZNF837 |
|---|---|
| Full Name | zinc finger protein 837 |
| Gene Type | protein coding |
| Chromosomal Location | 19q13.43 |
| NCBI Gene ID | 116412 ncbi.nlm.nih.gov/gene/116412 |
| Ensembl ID | ENSG00000159958 |
| UniProt ID | Q8N4S1 |
| OMIM ID | 618455 |
| HGNC ID | 28053 |
| Aliases | FLJ31818 |
Description
ZNF837 is a protein-coding gene located on chromosome 19q13.43. It encodes a zinc finger protein of the C2H2-type family, which typically function as transcription factors. The protein contains multiple C2H2-type zinc finger domains and a KRAB (Krüppel-associated box) domain, suggesting a role in transcriptional regulation. ZNF837 is expressed in various tissues, with highest expression in the thyroid and adrenal gland. Its exact biological function is not fully characterized, but it may be involved in gene regulation and has been implicated in certain cancers and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Potential role in tumor suppression or oncogenesis via transcriptional regulation; altered expression observed in some cancers. | COSMIC mutation data; expression studies in cancer cell lines. |
| Developmental disorders | Possible involvement in neurodevelopment due to expression in brain; specific variants may contribute to intellectual disability. | ClinVar submissions; limited case reports. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Thyroid | 12.4 | Medium |
| Adrenal gland | 10.1 | Medium |
| Brain | 8.3 | Low |
| Testis | 7.5 | Low |
| Liver | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 15.3 | Leukemia cell line; high expression |
| HeLa | 8.7 | Cervical cancer; moderate expression |
| A549 | 6.4 | Lung cancer; low expression |
| HepG2 | 4.9 | Liver cancer; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Ter) | Nonsense | Rare (0.01%) | Predicted to cause loss of function via premature truncation. |
| c.567G>A (p.Met189Ile) | Missense | 0.05% | Unknown effect; may alter zinc finger structure. |
| c.890_891del (p.Leu297fs) | Frameshift | Not reported | Loss of function; likely pathogenic. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., nonsense, frameshift) are rare and may contribute to disease phenotypes, but no strong evidence for specific disorders.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • metal ion binding |
| • zinc ion binding | • nucleus |
| • regulation of transcription | • DNA-templated |
Pathways
• No specific pathways curated in major databases.
Protein Summary
ZNF837 is a 590-amino acid protein with a KRAB domain and 12 C2H2-type zinc finger motifs. It is predicted to localize to the nucleus and function as a transcription factor. The KRAB domain is often involved in recruiting co-repressors, suggesting ZNF837 may act as a transcriptional repressor. Its expression in endocrine tissues and brain hints at roles in hormone regulation and neural development. Structural studies are limited, but the zinc finger array likely mediates sequence-specific DNA binding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF837 Knockout HEK293 Cell Line | EDJ-KQ7567 | Human | 116412 | Details Get a Quote |
| ZNF837 Knockout HeLa Cell Line | EDJ-KQ57984 | Human | 116412 | Details Get a Quote |
| ZNF837 Knockout A-549 Cell Line | EDJ-KQ66472 | Human | 116412 | Details Get a Quote |
| ZNF837 Knockout HCT 116 Cell Line | EDJ-KQ74894 | Human | 116412 | Details Get a Quote |
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