CRB3
protein-codingcrumbs cell polarity complex component 3, the group of Crumbs complex
Gene summary
This gene encodes a member of the Crumbs family of proteins. This gene is widely expressed in epithelial tissues where the encoded protein isoforms play various roles such as the control of cytokinesis and ciliogenesis or the formation of tight junctions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~3.4 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 CRB3 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_139161.5. 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 | 17 | 1 | 18 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 17 | 1 | 0 | 18 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_631900.1 | 3 | MANE Select | |
| Ensembl | ENSP00000472010.1 | 3 | MANE Select | |
| RefSeq | NP_777377.1 | 4 | Standard | |
| RefSeq | NP_777378.1 | 3 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Tight junction - Homo sapiens (human)
- Human papillomavirus infection - Homo sapiens (human)
- EMT transition in Colorectal Cancer
- Tight junction interactions
- Cell-cell junction organization
Biological Process
- bicellular tight junction assembly
- protein localization to plasma membrane
Molecular Function
- protein binding
- SH3 domain binding
- protein domain specific binding
Cellular Component
- plasma membrane
- bicellular tight junction
- integral component of membrane
- apical plasma membrane
- cell junction
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000356762
- Coding exons
- 4
- Length
- 3445
- Individuals with no LoFs
- 125525
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 1
- Defined
- 125526
- p
- 0.00000398
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.281 | 59 | 65.4 | 0.902 | 0.00000437 | 760 |
| Missense (PolyPhen) | 17 | 20.83 | 0.81612 | 204 | ||
| Synonymous | 0.354 | 25 | 27.4 | 0.914 | 0.00000163 | 280 |
| Loss of Function | 1.56 | 1 | 4.60 | 0.217 | 1.97e-7 | 62 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.0000088 | 0.0000088 | rare |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Involved in the establishment of cell polarity in mammalian epithelial cells. Regulates the morphogenesis of tight junctions. {ECO:0000269|PubMed:12771187, ECO:0000269|PubMed:14718572}.;
Recessive Scores
- pRec
- 0.0866
Intolerance Scores
- LoFtool
- 0.258
- RVIS EVS
- -0.27
- RVIS percentile EVS
- 33.97
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.127
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Low | Low |
| Primary Immunodeficiency | Medium | Low | Medium |
| Cancer | Medium | Low | Medium |