CPEB2

protein-coding

cytoplasmic polyadenylation element binding protein 2, the group of RNA binding motif containing

Gene summary

The protein encoded by this gene is highly similar to cytoplasmic polyadenylation element binding protein (CPEB), an mRNA-binding protein that regulates cytoplasmic polyadenylation of mRNA as a trans factor in oogenesis and spermatogenesis. Studies of the similar gene in mice suggested a possible role of this protein in transcriptionally inactive haploid spermatids. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

MANE transcript

NM_001177382.2

Inheritance

—

ClinVar variants

U:225B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.37

Max pathogenic AF

—

Genomic locus

chr4:15,002,481-15,070,153

External References & Databases

Ensembl (ENSG00000137449)

Transcript & Mutation Effects

hg38 • Region Span ~67.7 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 CPEB2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 221

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001177382.2. 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.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	1 clinvar		2
missense			222 clinvar			222
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	225	1	0	226

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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_001177382.2	RefSeq	NP_001170853.1	12	MANE Select
ENST00000538197.7	Ensembl	ENSP00000443985.1	12	MANE Select
NM_001177381.2	RefSeq	NP_001170852.1	11	Standard
NM_001177383.2	RefSeq	NP_001170854.1	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Oocyte meiosis - Homo sapiens (human)
Progesterone-mediated oocyte maturation - Homo sapiens (human)

Biological Process

translation
cellular response to insulin stimulus
negative regulation of GTPase activity
cellular response to oxidative stress
cellular response to arsenic-containing substance

Molecular Function

translation repressor activity, mRNA regulatory element binding
RNA binding
mRNA 3'-UTR binding
GTPase inhibitor activity
translation factor activity, RNA binding

Cellular Component

nucleus
cytoplasm
neuron projection
synapse
messenger ribonucleoprotein complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000538197
Coding exons: 12
Length: 67480
Individuals with no LoFs: 125740
Homozygous LoFs: 0
Heterozygous LoFs: 4
Defined: 125744
p: 0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.677	389	428	0.908	0.0000220	6575
Missense (PolyPhen)		65	168.13	0.38662		1941
Synonymous	-2.65	203	160	1.27	0.00000805	2115
Loss of Function	3.45	13	35.1	0.371	0.00000212	430

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000027	0.000026	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in translational regulation of stored mRNAs in transcriptionally inactive haploid spermatids. Binds to poly(U) RNA oligomers (By similarity). Required for cell cycle progression, specifically for the transition from metaphase to anaphase (PubMed:26398195). {ECO:0000250|UniProtKB:Q812E0, ECO:0000269|PubMed:26398195}.;

Recessive Scores

pRec: 0.0883

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: E
Indispensability score: 0.825

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High