WEE2

WEE2 oocyte meiosis inhibiting kinase

Basic information

Region (hg38): 7:141708352-141731271

Links

ENSG00000214102 ∙ NCBI:494551 ∙ OMIM:614084 ∙ HGNC:19684 ∙ Uniprot:P0C1S8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• oocyte maturation defect 5 (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Oocyte/zygote/embryo maturation arrest 5	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Obstetric	29606300; 30628060

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the WEE2 gene.

• Inborn genetic diseases (29 variants)
• not provided (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WEE2 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	1	3
missense			28	2	1	31
nonsense	1					1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	1	0	28	4	2

Variants in WEE2

This is a list of pathogenic ClinVar variants found in the WEE2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-141708810-T-C		not specified	Uncertain significance (May 31, 2023)
7-141708820-A-T		not specified	Uncertain significance (Dec 05, 2022)
7-141708827-G-C		not specified	Uncertain significance (Jul 26, 2022)
7-141708918-A-T		not specified	Uncertain significance (Dec 05, 2023)
7-141708921-C-T		not specified	Uncertain significance (Aug 02, 2022)
7-141708944-C-T		WEE2-related disorder	Likely benign (Apr 26, 2019)
7-141708967-C-T		not specified	Uncertain significance (Oct 27, 2021)
7-141708968-G-A			Likely benign (Jul 31, 2018)
7-141708977-CAAAG-C		Oocyte maturation defect 5	Pathogenic (Apr 10, 2023)
7-141709035-G-C		not specified	Uncertain significance (Oct 05, 2023)
7-141709045-C-T		not specified	Uncertain significance (Jun 22, 2021)
7-141709058-C-T		WEE2-related disorder	Likely benign (Apr 05, 2019)
7-141714268-G-A		WEE2-related disorder	Likely benign (Jul 02, 2019)
7-141714353-T-C		Oocyte maturation defect 5	Uncertain significance (Mar 26, 2024)
7-141714379-T-C			Benign (Jul 16, 2018)
7-141716226-G-C		not specified	Uncertain significance (Dec 13, 2021)
7-141716263-C-A		not specified	Uncertain significance (Jan 30, 2024)
7-141719084-C-T		Oocyte maturation defect 5	Pathogenic (Apr 10, 2023)
7-141719085-G-A		not specified	Uncertain significance (Jan 07, 2022)
7-141719181-G-A		not specified	Uncertain significance (Oct 27, 2023)
7-141719186-G-C		Oocyte maturation defect 5	Pathogenic (Apr 10, 2023)
7-141719205-T-C		not specified	Uncertain significance (Aug 10, 2021)
7-141719210-C-T		not specified	Uncertain significance (Feb 27, 2023)
7-141719211-G-A		not specified	Uncertain significance (Nov 10, 2021)
7-141720940-C-T		not specified	Likely benign (Jun 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WEE2	protein_coding	protein_coding	ENST00000397541	12	22919

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000481	0.992	124734	0	59	124793	0.000236

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.579	280	309	0.907	0.0000159	3716
Missense in Polyphen		73	96.032	0.76017		1225
Synonymous	-0.228	114	111	1.03	0.00000569	1091
Loss of Function	2.38	13	26.2	0.497	0.00000120	351

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000282	0.000281
Ashkenazi Jewish	0.00219	0.00219
East Asian	0.000112	0.000111
Finnish	0.00	0.00
European (Non-Finnish)	0.000186	0.000185
Middle Eastern	0.000112	0.000111
South Asian	0.000231	0.000229
Other	0.000165	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Oocyte-specific protein tyrosine kinase that phosphorylates and inhibits CDK1 and acts as a key regulator of meiosis during both prophase I and metaphase II. Required to maintain meiotic arrest in oocytes during the germinal vesicle (GV) stage, a long period of quiescence at dictyate prophase I, by phosphorylating CDK1 at 'Tyr-15', leading to inhibit CDK1 activity and prevent meiotic reentry. Also required for metaphase II exit during egg activation by phosphorylating CDK1 at 'Tyr-15', to ensure exit from meiosis in oocytes and promote pronuclear formation (By similarity). {ECO:0000250}.
• Pathway: Cell cycle - Homo sapiens (human) (Consensus)

Intolerance Scores

• loftool: 0.765
• rvis_EVS: -0.6
• rvis_percentile_EVS: 18.06

Haploinsufficiency Scores

• pHI: 0.0711
• hipred: N
• hipred_score: 0.230
• ghis: 0.394

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.168

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Wee2
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: mitotic cell cycle checkpoint;female meiotic nuclear division;peptidyl-tyrosine phosphorylation;female pronucleus assembly;positive regulation of phosphorylation;negative regulation of cyclin-dependent protein serine/threonine kinase activity;regulation of meiosis I;regulation of fertilization;negative regulation of oocyte maturation
• Cellular component: nucleus;nucleoplasm;cytosol
• Molecular function: magnesium ion binding;protein kinase activity;protein tyrosine kinase activity;non-membrane spanning protein tyrosine kinase activity;ATP binding