GJB7
protein-codinggap junction protein beta 7, the group of Gap junction proteins
Gene summary
Connexins, such as GJB7, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~46.3 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 GJB7 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_198568.3. 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 | 36 | 1 | 37 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 36 | 0 | 2 | 38 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_940970.1 | 1 | MANE Select | |
| Ensembl | ENSP00000435355.1 | 1 | MANE Select | |
| Ensembl | ENSP00000358589.2 | 1 | Standard | |
| Ensembl | ENSP00000606053.1 | 1 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- cell communication
- transmembrane transport
Molecular Function
- gap junction channel activity
Cellular Component
- connexin complex
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000525899
- Coding exons
- 1
- Length
- 46301
- Individuals with no LoFs
- 124866
- Homozygous LoFs
- 5
- Heterozygous LoFs
- 860
- Defined
- 125731
- p
- 0.00345
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.370 | 122 | 111 | 1.10 | 0.00000515 | 1466 |
| Missense (PolyPhen) | 39 | 37.694 | 1.0347 | 550 | ||
| Synonymous | 1.19 | 34 | 44.1 | 0.772 | 0.00000228 | 420 |
| Loss of Function | -0.794 | 8 | 5.92 | 1.35 | 2.52e-7 | 81 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.039 | 0.039 | notable |
| Latino/Admixed American | 0.0036 | 0.0036 | notable |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00038 | 0.00038 | rare |
| Finnish | 0.00023 | 0.00023 | rare |
| European (Non-Finnish) | 0.00074 | 0.00074 | rare |
| South Asian | 0.00033 | 0.00029 | rare |
| Other | 0.0026 | 0.0026 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. {ECO:0000250, ECO:0000269|PubMed:12064583}.;
Intolerance Scores
- LoFtool
- 0.389
- RVIS EVS
- 1.15
- RVIS percentile EVS
- 92.47
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.113
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |