CPEB2

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

Basic information

Region (hg38): 4:15002481-15070153

Links

ENSG00000137449

∙ NCBI:132864 ∙ OMIM:610605 ∙ HGNC:21745 ∙ Uniprot:Q7Z5Q1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CPEB2 gene.

not_specified (187 variants)
not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CPEB2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001177382.2. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			187 clinvar			187
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	187	1	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CPEB2	protein_coding	protein_coding	ENST00000538197	12	67480

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000137	1.00	125740	0	4	125744	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.677	389	428	0.908	0.0000220	6575
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000267	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

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}.;
Pathway: Oocyte meiosis - Homo sapiens (human);Progesterone-mediated oocyte maturation - Homo sapiens (human) (Consensus)

Recessive Scores

pRec: 0.0883

Haploinsufficiency Scores

pHI: 0.138
hipred: Y
hipred_score: 0.662
ghis: 0.467

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap
gene_indispensability_pred: E
gene_indispensability_score: 0.825

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Cpeb2
Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); respiratory system phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process: translation;cellular response to insulin stimulus;negative regulation of GTPase activity;cellular response to oxidative stress;cellular response to arsenic-containing substance;cellular response to hypoxia;negative regulation of cytoplasmic translational elongation;negative regulation of cytoplasmic translation
Cellular component: nucleus;cytoplasm;neuron projection;synapse;messenger ribonucleoprotein complex
Molecular function: translation repressor activity, mRNA regulatory element binding;RNA binding;mRNA 3'-UTR binding;GTPase inhibitor activity;translation factor activity, RNA binding;mRNA 3'-UTR AU-rich region binding;ribosome binding;ribosomal large subunit binding;ribosomal small subunit binding