CCNP

protein-coding

cyclin P, the group of Cyclins

Gene summary

Predicted to enable cyclin-dependent protein serine/threonine kinase regulator activity. Predicted to be involved in G1/S transition of mitotic cell cycle. Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

CNTD2

MANE transcript

NM_024877.4

Inheritance

—

ClinVar variants

U:49B:7

Top phenotype

CCNP-related disorder

gnomAD constraint

pLI —, LoF o/e 0.7

Max pathogenic AF

—

Genomic locus

chr19:40,222,208-40,226,697

External References & Databases

Ensembl (ENSG00000105219)

Transcript & Mutation Effects

hg38 • Region Span ~4.5 kb

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GenCC 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 CCNP variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 51

CCNP-related disorderTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_024877.4. 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			1 clinvar	3 clinvar		4
missense			48 clinvar	4 clinvar		52
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	49	7	0	56

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_024877.4	RefSeq	NP_079153.2	5	MANE Select
ENST00000430325.7	Ensembl	ENSP00000396755.2	5	MANE Select
NM_001411133.1	RefSeq	NP_001398062.1	6	Standard
ENST00000221818.5	Ensembl	ENSP00000221818.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of cyclin-dependent protein serine/threonine kinase activity
mitotic cell cycle
protein phosphorylation
regulation of mitotic nuclear division
positive regulation of cell population proliferation

Molecular Function

protein kinase activity
cyclin-dependent protein serine/threonine kinase regulator activity
protein kinase binding

Cellular Component

cyclin-dependent protein kinase holoenzyme complex
nucleus
cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000430325
Coding exons: 5
Length: 4483
Individuals with no LoFs: 125724
Homozygous LoFs: 0
Heterozygous LoFs: 15
Defined: 125739
p: 0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.05	157	199	0.791	0.0000139	1889
Missense (PolyPhen)		51	70.214	0.72635		665
Synonymous	0.246	90	93.0	0.967	0.00000683	706
Loss of Function	0.819	6	8.59	0.698	4.66e-7	91

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00035	0.00035	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.605
RVIS EVS: 0.35
RVIS percentile EVS: 73.97

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0370

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium