ZNF467
protein-codingzinc finger protein 467, the group of Zinc fingers C2H2-type
Gene summary
The protein encoded by this gene is a zinc finger protein whose function has not yet been elucidated in humans. However, the mouse ortholog of this protein enhances adipocyte differentiation and suppresses osteoblast differentiation in bone marrow. The mouse protein also is a transcription factor for several genes and can help recruit histone deacetylase complexes. [provided by RefSeq, Aug 2016]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~9.4 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to ZNF467 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_207336.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 112 | 6 | 118 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 113 | 6 | 0 | 119 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_997219.1 | 4 | MANE Select | |
| Ensembl | ENSP00000304769.3 | 4 | MANE Select | |
| RefSeq | NP_001316785.1 | 4 | Standard | |
| Ensembl | ENSP00000418011.1 | 4 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- regulation of transcription by RNA polymerase II
Molecular Function
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA binding
- metal ion binding
Cellular Component
- nucleus
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000302017
- Coding exons
- 4
- Length
- 9298
- Individuals with no LoFs
- 125563
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 182
- Defined
- 125745
- p
- 0.000724
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.238 | 352 | 365 | 0.965 | 0.0000241 | 3745 |
| Missense (PolyPhen) | 153 | 155.19 | 0.98592 | 1536 | ||
| Synonymous | -0.306 | 167 | 162 | 1.03 | 0.0000116 | 1196 |
| Loss of Function | 0.702 | 15 | 18.2 | 0.823 | 8.26e-7 | 196 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00013 | 0.00012 | rare |
| Latino/Admixed American | 0.00048 | 0.00046 | rare |
| Ashkenazi Jewish | 0.011 | 0.011 | notable |
| East Asian | 0.000055 | 0.000054 | rare |
| Finnish | 0.000095 | 0.000046 | rare |
| European (Non-Finnish) | 0.00032 | 0.00029 | rare |
| South Asian | 0.00012 | 0.000098 | rare |
| Other | 0.0024 | 0.0023 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Transcription factor that promotes adipocyte differentiation and suppresses osteoblast differentiation in the bone marrow. Enhances the osteoclast-supporting ability of stromal cells. Binds with STAT3 the consensus sequence 5'-CTTCTGGGAAGA-3' of the acute phase response element (APRE). Transactivates several promoters including FOS, OSM and PPARG. Recruits a histone deacetylase complex (By similarity). {ECO:0000250}.;
Recessive Scores
- pRec
- 0.108
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.281
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |