CCNG2

protein-coding

cyclin G2, the group of Cyclins

Gene summary

The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) whose activities are regulated by cyclins and CDK inhibitors. The 8 species of cyclins reported in mammals, cyclins A through H, share a conserved amino acid sequence of about 90 residues called the cyclin box. The amino acid sequence of cyclin G is well conserved among mammals. The nucleotide sequence of cyclin G1 and cyclin G2 are 53% identical. Unlike cyclin G1, cyclin G2 contains a C-terminal PEST protein destabilization motif, suggesting that cyclin G2 expression is tightly regulated through the cell cycle. [provided by RefSeq, Jul 2008]

MANE transcript

NM_004354.3

Inheritance

—

ClinVar variants

U:33B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.38

Max pathogenic AF

—

Genomic locus

chr4:77,157,207-77,433,388

External References & Databases

Ensembl (ENSG00000138764)

Transcript & Mutation Effects

hg38 • Region Span ~276.2 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 CCNG2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 27

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_004354.3. 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					3 clinvar	3
missense			27 clinvar	1 clinvar	1 clinvar	29
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	33	1	4	38

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 20 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_004354.3	RefSeq	NP_004345.1	7	MANE Select
ENST00000316355.10	Ensembl	ENSP00000315743.5	7	MANE Select
ENST00000395640.5	Ensembl	ENSP00000379002.1	7	Standard
ENST00000395640.6	Ensembl	ENSP00000379002.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

p53 signaling pathway - Homo sapiens (human)
FoxO signaling pathway - Homo sapiens (human)
G1 to S cell cycle control
DNA Damage Response (only ATM dependent)

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: ENST00000316355
Coding exons: 7
Length: 276239
Individuals with no LoFs: 125728
Homozygous LoFs: 0
Heterozygous LoFs: 20
Defined: 125748
p: 0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.669	147	172	0.856	0.00000813	2260
Missense (PolyPhen)		20	38.152	0.52422		514
Synonymous	-0.588	69	63.1	1.09	0.00000296	629
Loss of Function	2.26	6	15.7	0.383	7.42e-7	220

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00037	0.00037	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.000053	0.000053	rare
South Asian	0.000043	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in growth regulation and in negative regulation of cell cycle progression.;

Recessive Scores

pRec: 0.149

Intolerance Scores

LoFtool: 0.606
RVIS EVS: 0.24
RVIS percentile EVS: 69.21

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.805

Gene Damage Prediction

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