WEE2 WEE2 oocyte meiosis inhibiting kinase [Homo sapiens (human)] - Gene

Summary

Official Symbol: WEE2provided by HGNC
Official Full Name: WEE2 oocyte meiosis inhibiting kinaseprovided by HGNC
Primary source: HGNC:HGNC:19684
See related: Ensembl:ENSG00000214102 MIM:614084; AllianceGenome:HGNC:19684
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OOMD5; WEE1B; OZEMA5
Summary: Predicted to enable protein tyrosine kinase activity. Predicted to be involved in several processes, including female pronucleus assembly; negative regulation of oocyte maturation; and regulation of meiosis I. Located in cytosol; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 7q34

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (141708353..141731271)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (143024205..143047114)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (141408153..141431071)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel WEE2 homozygous mutations c.1346C>T and c.949A>T identified in primary infertile women due to unexplained fertilization failure.
Title: Novel WEE2 homozygous mutations c.1346C>T and c.949A>T identified in primary infertile women due to unexplained fertilization failure.
Novel WEE2 compound heterozygous mutations identified in patients with fertilization failure or poor fertilization.
Title: Novel WEE2 compound heterozygous mutations identified in patients with fertilization failure or poor fertilization.
Clinical exome sequencing identifies novel compound heterozygous mutations of the WEE2 gene in primary infertile women with fertilization failure.
Title: Clinical exome sequencing identifies novel compound heterozygous mutations of the WEE2 gene in primary infertile women with fertilization failure.
These findings confirmed our previous research and expanded the mutational spectrum of WEE2, making it a potential genetic diagnostic marker for those suffering from human fertilization failure.
Title: Novel mutations in WEE2: Expanding the spectrum of mutations responsible for human fertilization failure.
Novel compound heterozygous mutations c.598C>T (p.Arg200Ter) and c.1319G>C (p.Trp440Ser) in WEE2 gene in a female whose oocytes could not form pronucleus after intracytoplasmic sperm injection. Mutations in WEE2 gene affect the normal function of WEE2 proteins and cause fertilization failure.
Title: Novel compound heterozygous mutations in WEE2 causes female infertility and fertilization failure.
Novel variants found in WEE2, which is autosomal-recessive inherited, may be related to recurrent pronucleus formation failure and female infertility.
Title: Novel WEE2 gene variants identified in patients with fertilization failure and female infertility.
A high prevalence of WEE2 mutations was found in Chinese women experiencing fertilization failure or poor fertilization.
Title: New biallelic mutations in WEE2: expanding the spectrum of mutations that cause fertilization failure or poor fertilization.
WEE2-AS1 over-expressed in HCC and was positively correlated to hepatitis B virus (HBV) infection, hepatic vascular invasion, poor tumor differentiation and poor patient prognosis. WEE2-AS1 also accelerated the proliferation, migration, invasion and cell cycle progression of HCC cells. A preliminary HBx-WEE2-AS1- FERMT3 pathway which may serve as a therapeutic target for HBV-associated HCC.
Title: Hepatitis B virus X protein related lncRNA WEE2-AS1 promotes hepatocellular carcinoma proliferation and invasion.
homozygous mutations in WEE2 that are responsible for fertilization failure in humans, were identified.
Title: Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Oocyte maturation defect 5 MedGen: C4693865 OMIM: 617996 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genetic variants associated with disordered eating. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S2513 (e-PCR), detects polymorphism
- UniSTS:47504

G31021 (e-PCR)
- UniSTS:418

D7S2513 (e-PCR), detects polymorphism
- UniSTS:58031

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables magnesium ion binding	IEA Inferred from Electronic Annotation more info
enables non-membrane spanning protein tyrosine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein tyrosine kinase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in female meiotic nuclear division	ISS Inferred from Sequence or Structural Similarity more info
involved_in female pronucleus assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of oocyte maturation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in protein phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of fertilization	IEA Inferred from Electronic Annotation more info
involved_in regulation of meiosis I	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of meiosis I	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: wee1-like protein kinase 2

Names: WEE1 homolog 2; wee1-like protein kinase 1B; wee1B kinase

NP_001099028.1

EC 2.7.10.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.