WWC2

WW and C2 domain containing 2, the group of WWC family|C2 and WW domain containing

Basic information

Region (hg38): 4:183099257-183320777

Links

ENSG00000151718 ∙ NCBI:80014 ∙ OMIM:620110 ∙ HGNC:24148 ∙ Uniprot:Q6AWC2 ∙ 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 WWC2 gene.

• not_specified (148 variants)
• not_provided (3 variants)
• Long_QT_syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WWC2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000024949.6. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	2	4
missense			143	5		148
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	143	7	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WWC2	protein_coding	protein_coding	ENST00000403733	23	221485

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.59e-7	1.00	125544	0	49	125593	0.000195

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.342	574	597	0.961	0.0000317	7698
Missense in Polyphen		185	215.26	0.85941		2771
Synonymous	-0.465	242	233	1.04	0.0000127	2278
Loss of Function	4.27	22	56.7	0.388	0.00000266	775

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000577	0.000573
Ashkenazi Jewish	0.0000994	0.0000993
East Asian	0.000166	0.000163
Finnish	0.000231	0.000231
European (Non-Finnish)	0.000144	0.000141
Middle Eastern	0.000166	0.000163
South Asian	0.000238	0.000229
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0950

Intolerance Scores

• loftool: 0.910
• rvis_EVS: 0.06
• rvis_percentile_EVS: 57.55

Haploinsufficiency Scores

• pHI: 0.471
• hipred: N
• hipred_score: 0.492
• ghis: 0.502

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.714

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Wwc2

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;negative regulation of hippo signaling;negative regulation of organ growth
• Cellular component: cytosol
• Molecular function: kinase binding;protein-containing complex scaffold activity