GeneBe

WWP2

WW domain containing E3 ubiquitin protein ligase 2, the group of HECT domain containing|C2 and WW domain containing|MicroRNA protein coding host genes

Basic information

Region (hg38): 16:69762328-69941741

Links

ENSG00000198373 ∙ NCBI:11060 ∙ OMIM:602308 ∙ HGNC:16804 ∙ Uniprot:O00308 ∙ 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 WWP2 gene.

  • not_specified (102 variants)
  • not_provided (6 variants)
  • Spondyloepiphyseal_dysplasia,_nishimura_type (1 variants)
  • Spondyloepiphyseal_dysplasia_MIR140_type_Nishimura (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WWP2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001270454.2. 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.

EffectPLPVUSLBBSum
synonymous
3
clinvar
1
clinvar
 4
missense
101
clinvar
1
clinvar
 102
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 101 4 1
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
WWP2protein_codingprotein_codingENST00000359154 23179436
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.1650.8351256750731257480.000290
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.594545600.8100.00003625677
Missense in Polyphen187285.120.655872832
Synonymous0.5912112220.9500.00001511670
Loss of Function5.211354.50.2380.00000272576

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001740.000174
Ashkenazi Jewish0.000.00
East Asian0.002890.00289
Finnish0.00004620.0000462
European (Non-Finnish)0.00008870.0000879
Middle Eastern0.002890.00289
South Asian0.00003270.0000327
Other0.0003270.000326

dbNSFP

Source: dbNSFP

Function
FUNCTION: E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Polyubiquitinates POU5F1 by 'Lys-63'-linked conjugation and promotes it to proteasomal degradation; in embryonic stem cells (ESCs) the ubiquitination is proposed to regulate POU5F1 protein level. Ubiquitinates EGR2 and promotes it to proteasomal degradation; in T-cells the ubiquitination inhibits activation- induced cell death. Ubiquitinates SLC11A2; the ubiquitination is enhanced by presence of NDFIP1 and NDFIP2. Ubiquitinates RPB1 and promotes it to proteasomal degradation. {ECO:0000269|PubMed:19274063, ECO:0000269|PubMed:19651900}.;
Pathway
Ubiquitin mediated proteolysis - Homo sapiens (human);Signal Transduction;Regulation of PTEN stability and activity;NOTCH3 Activation and Transmission of Signal to the Nucleus;Signaling by NOTCH3;Signaling by NOTCH;PTEN Regulation;PIP3 activates AKT signaling;Intracellular signaling by second messengers (Consensus)

Recessive Scores

pRec
0.137

Intolerance Scores

loftool
0.366
rvis_EVS
-0.51
rvis_percentile_EVS
21.8

Haploinsufficiency Scores

pHI
0.761
hipred
Y
hipred_score
0.793
ghis
0.537

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
gene_indispensability_pred
E
gene_indispensability_score
0.942

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Wwp2
Phenotype
skeleton phenotype; immune system phenotype; 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); homeostasis/metabolism phenotype; craniofacial phenotype; growth/size/body region phenotype;

Zebrafish Information Network

Gene name
wwp2
Affected structure
palate
Phenotype tag
abnormal
Phenotype quality
decreased size

Gene ontology

Biological process
negative regulation of transcription by RNA polymerase II;protein polyubiquitination;cellular protein modification process;ubiquitin-dependent protein catabolic process;extracellular transport;negative regulation of gene expression;protein ubiquitination;negative regulation of transporter activity;regulation of ion transmembrane transport;regulation of membrane potential;proteasome-mediated ubiquitin-dependent protein catabolic process;negative regulation of DNA-binding transcription factor activity;positive regulation of protein catabolic process;negative regulation of Notch signaling pathway;negative regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;viral entry into host cell;negative regulation of protein transport;protein autoubiquitination;protein K63-linked ubiquitination;regulation of potassium ion transmembrane transporter activity
Cellular component
ubiquitin ligase complex;nucleus;cytoplasm;cytosol;membrane;extracellular exosome
Molecular function
RNA polymerase II transcription factor binding;ubiquitin-protein transferase activity;protein binding;transcription factor binding;ubiquitin protein ligase activity