RGCC
protein-codingregulator of cell cycle
Gene summary
This gene is thought to regulate cell cycle progression. It is induced by p53 in response to DNA damage, or by sublytic levels of complement system proteins that result in activation of the cell cycle. The encoded protein localizes to the cytoplasm during interphase and to centrosomes during mitosis. The protein forms a complex with polo-like kinase 1. The protein also translocates to the nucleus in response to treatment with complement system proteins, and can associate with and increase the kinase activity of cell division cycle 2 protein. In different assays and cell types, overexpression of this protein has been shown to activate or suppress cell cycle progression. [provided by RefSeq, Jul 2008]
- C13orf15
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~13.3 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 RGCC variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_014059.3. 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 | 19 | 19 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 20 | 0 | 0 | 20 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_054778.2 | 5 | MANE Select | |
| Ensembl | ENSP00000368664.3 | 5 | MANE Select | |
| Ensembl | ENSP00000558753.1 | 5 | Standard | |
| Ensembl | ENSP00000558753.1 | 5 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- TP53 Regulates Transcription of Cell Cycle Genes
- Gene expression (Transcription)
- Generic Transcription Pathway
- RNA Polymerase II Transcription
- TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain
Biological Process
- negative regulation of exit from mitosis
- negative regulation of endothelial cell proliferation
- positive regulation of extracellular matrix constituent secretion
- complement activation
- DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
Molecular Function
- protein binding
- protein kinase binding
- protein kinase activator activity
- R-SMAD binding
Cellular Component
- nucleus
- nucleolus
- cytoplasm
- centrosome
- cytosol
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000379359
- Coding exons
- 5
- Length
- 13324
- Individuals with no LoFs
- 124786
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 9
- Defined
- 124795
- p
- 0.0000361
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.704 | 55 | 71.8 | 0.766 | 0.00000315 | 887 |
| Missense (PolyPhen) | 24 | 32.222 | 0.74484 | 403 | ||
| Synonymous | 0.609 | 26 | 30.3 | 0.859 | 0.00000141 | 254 |
| Loss of Function | 0.711 | 4 | 5.86 | 0.683 | 2.47e-7 | 79 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.00012 | 0.00012 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000048 | 0.000044 | rare |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Modulates the activity of cell cycle-specific kinases. Enhances CDK1 activity. May contribute to the regulation of the cell cycle. May inhibit growth of glioma cells by promoting arrest of mitotic progression at the G2/M transition. Fibrogenic factor contributing to the pathogenesis of renal fibrosis through fibroblast activation. {ECO:0000269|PubMed:11687586, ECO:0000269|PubMed:17146433, ECO:0000269|PubMed:19158077, ECO:0000269|PubMed:22163048}.;
Recessive Scores
- pRec
- 0.101
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.114
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Low | Low | Low |
| Primary Immunodeficiency | Low | Low | Low |
| Cancer | Low | Low | Low |