COMMD7
protein-codingCOMM domain containing 7, the group of CCC complex|COMM domain containing
Gene summary
Enables NF-kappaB binding activity. Involved in negative regulation of DNA-templated transcription and tumor necrosis factor-mediated signaling pathway. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jun 2026]
- C20orf92
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~40.8 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 COMMD7 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_053041.3. 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 | 34 | 1 | 35 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 7 | 7 | ||||
| Total | 0 | 0 | 41 | 1 | 0 | 42 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_444269.2 | 9 | MANE Select | |
| Ensembl | ENSP00000278980.6 | 9 | MANE Select | |
| RefSeq | NP_001092809.1 | 9 | Standard | |
| Ensembl | ENSP00000395339.1 | 9 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Post-translational protein modification
- Metabolism of proteins
- Neddylation
Biological Process
- negative regulation of NF-kappaB transcription factor activity
- tumor necrosis factor-mediated signaling pathway
- negative regulation of transcription, DNA-templated
Molecular Function
- protein binding
- NF-kappaB binding
Cellular Component
- cytoplasmic vesicle
- intracellular membrane-bounded organelle
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000278980
- Coding exons
- 9
- Length
- 41311
- Individuals with no LoFs
- 124769
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 25
- Defined
- 124794
- p
- 0.000100
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.587 | 84 | 101 | 0.835 | 0.00000476 | 1311 |
| Missense (PolyPhen) | 19 | 24.751 | 0.76766 | 368 | ||
| Synonymous | 0.321 | 34 | 36.5 | 0.932 | 0.00000199 | 355 |
| Loss of Function | 0.565 | 12 | 14.3 | 0.839 | 6.73e-7 | 165 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00013 | 0.00013 | rare |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00017 | 0.00017 | rare |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.00012 | 0.00011 | rare |
| South Asian | 0.00017 | 0.00016 | rare |
| Other | 0.00017 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). Associates with the NF-kappa-B complex and suppresses its transcriptional activity (PubMed:15799966). {ECO:0000269|PubMed:15799966, ECO:0000305|PubMed:21778237}.;
Recessive Scores
- pRec
- 0.0974
Intolerance Scores
- LoFtool
- 0.790
- RVIS EVS
- -0.16
- RVIS percentile EVS
- 41.25
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.508
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |