GeneBe

CCP110

protein-coding

centriolar coiled-coil protein 110

Gene summary

Enables microtubule binding activity. Involved in centriole replication; negative regulation of cilium assembly; and regulation of cytokinesis. Located in centriole and centrosome. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001323572.2

Inheritance

AR

ClinVar variants

P:2U:120B:11

Top phenotype

See cases

gnomAD constraint

pLI —, LoF o/e 0.29

Max pathogenic AF

—

Genomic locus

chr16:19,523,811-19,553,408

External References & Databases

Ensembl (ENSG00000103540)NCBI Gene (9738)OMIM (609544)HGNC:24342GenCCUniProt (O43303)AlphaFoldClinVar (CCP110)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~29.6 kb
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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

ciliopathyLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0005308

Submitter: Ambry Genetics

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CCP110 variants in ClinVar

3 Conditions Cataloged
not specifiedTotal: 128
not providedTotal: 4
See casesTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001323572.2. 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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
2
clinvar
2
clinvar
 6
missense
115
clinvar
6
clinvar
1
clinvar
 122
nonsense
1
clinvar
1
clinvar
 2
start loss
0
frameshift
1
clinvar
 1
splice donor/acceptor (+/-2bp)
2
clinvar
 2
Total0212083133

Highest pathogenic variant AF is 0.0000037176933

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 43 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_001323572.2RefSeqNP_001310501.113MANE Select
ENST00000694978.1EnsemblENSP00000511625.113MANE Select
NM_001199022.3RefSeqNP_001185951.214Standard
NM_001323569.2RefSeqNP_001310498.114Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • Post-translational protein modification
  • Metabolism of proteins
  • Regulation of PLK1 Activity at G2/M Transition
  • Recruitment of mitotic centrosome proteins and complexes
  • Loss of Nlp from mitotic centrosomes

Biological Process

  • G2/M transition of mitotic cell cycle
  • centriole replication
  • regulation of G2/M transition of mitotic cell cycle
  • protein deubiquitination
  • ciliary basal body organization

Molecular Function

  • protein binding

Cellular Component

  • centrosome
  • centriole
  • cytosol
  • cilium
  • protein-containing complex

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000381396
Coding exons
14
Length
29598
Individuals with no LoFs
125698
Homozygous LoFs
0
Heterozygous LoFs
46
Defined
125744
p
0.000183
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense1.284375190.8420.00002546677
Missense (PolyPhen)171216.070.79142852
Synonymous1.911451770.8180.000009041862
Loss of Function4.461345.50.2860.00000226609

Population LoF Frequency

PopulationCAFp-valueStatus
African0.000310.00031rare
Latino/Admixed American0.000120.00012rare
Ashkenazi Jewish0.0000990.000099rare
East Asian0.000390.00038rare
Finnish0.0000980.000092rare
European (Non-Finnish)0.000200.00019rare
South Asian0.000170.00016rare
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Necessary for centrosome duplication at different stages of procentriole formation. Acts as a key negative regulator of ciliogenesis in collaboration with CEP97 by capping the mother centriole thereby preventing cilia formation (PubMed:17719545 PubMed:17681131, PubMed:23486064). Also involved in promoting ciliogenesis. May play a role in the assembly of the mother centriole subdistal appendages (SDA) thereby effecting the fusion of recycling endosomes to basal bodies during cilia formation (By similarity). Required for correct spindle formation and has a role in regulating cytokinesis and genome stability via cooperation with CALM1 and CETN2 (PubMed:16760425). {ECO:0000250|UniProtKB:Q7TSH4, ECO:0000269|PubMed:12361598, ECO:0000269|PubMed:16760425, ECO:0000269|PubMed:17681131, ECO:0000269|PubMed:17719545, ECO:0000269|PubMed:23486064}.;

Intolerance Scores

RVIS EVS
-0.35
RVIS percentile EVS
29.54

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
S
Essential (gene trap)
E
Indispensability pred.
N
Indispensability score
0.114

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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