WWC2 WW and C2 domain containing 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: WWC2provided by HGNC
Official Full Name: WW and C2 domain containing 2provided by HGNC
Primary source: HGNC:HGNC:24148
See related: Ensembl:ENSG00000151718 MIM:620110; AllianceGenome:HGNC:24148
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BOMB
Summary: This gene encodes a member of the WW-and-C2-domain-containing family of proteins. Members of this family have two N-terminal WW domains that mediate binding to target proteins harboring L/PPxY motifs, an internal C2 domain for membrane association, and C-terminal alpha protein kinase C binding sites and class III PDZ domain-interaction motifs. Proteins of this family are able to form homo- and heterodimers and to modulate hippo pathway signaling. [provided by RefSeq, Sep 2016]
Expression: Broad expression in lung (RPKM 16.2), kidney (RPKM 8.8) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q35.1

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (183099257..183320777)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (186442799..186664233)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (184020410..184241930)

Chromosome 4 - NC_000004.12 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

WWC2 expression in the testis: Implications for spermatogenesis and male fertility.
Title: WWC2 expression in the testis: Implications for spermatogenesis and male fertility.
miR-21-5p promotes lung adenocarcinoma cell proliferation, migration and invasion via targeting WWC2.
Title: miR-21-5p promotes lung adenocarcinoma cell proliferation, migration and invasion via targeting WWC2.
WWC2 functions as a tumor suppressor by negatively regulating the Hippo signaling pathway and may serve as a prognostic marker in hepatocellular carcinoma.
Title: WWC2 is an independent prognostic factor and prevents invasion via Hippo signalling in hepatocellular carcinoma.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Hundreds of variants clustered in genomic loci and biological pathways affect human height. 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

D4S2865 (e-PCR)
- UniSTS:12035

SHGC-59360 (e-PCR)
- UniSTS:37895

RH75012 (e-PCR)
- UniSTS:86284

SHGC-59862 (e-PCR)
- UniSTS:25650

G16725 (e-PCR)
- UniSTS:12866

RH36596 (e-PCR)
- UniSTS:33607

D4S3306 (e-PCR)
- UniSTS:60491

BOMB_4459 (e-PCR)
- UniSTS:464464

G33625 (e-PCR)
- UniSTS:22358

RH99022 (e-PCR)
- UniSTS:92758

SHGC-59814 (e-PCR)
- UniSTS:33124

SHGC-59361 (e-PCR)
- UniSTS:43130

SHGC-35220 (e-PCR)
- UniSTS:67708

SHGC-110403 (e-PCR)
- UniSTS:167840

SHGC-67248 (e-PCR)
- UniSTS:88233

SHGC-50189 (e-PCR)
- UniSTS:4780

SHGC-50362 (e-PCR)
- UniSTS:46525

SHGC-148320 (e-PCR)
- UniSTS:176320

SHGC-24797 (e-PCR)
- UniSTS:78809

RH122363 (e-PCR)
- UniSTS:138460

SHGC-25154 (e-PCR)
- UniSTS:82653

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables molecular adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables molecular adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling adaptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in hippo signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of hippo signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of organ growth	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of organ growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of hippo signaling	IBA Inferred from Biological aspect of Ancestor more info

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

General protein information

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Preferred Names: protein WWC2

Names: BH3-only member B protein; WW, C2 and coiled-coil domain containing 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.

Genomic

NG_051586.1 RefSeqGene

Range

5623..227143

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001410864.1 → NP_001397793.1 protein WWC2 isoform 1

Status: REVIEWED

Source sequence(s)

AC019193, AC093844, AC099397

Consensus CDS

CCDS93674.1

Related

ENSP00000398577.2, ENST00000448232.6
NM_024949.6 → NP_079225.5 protein WWC2 isoform 2

See identical proteins and their annotated locations for NP_079225.5

Status: REVIEWED

Source sequence(s)

AC019193, AC093844, AK074260, AK091401, AK126057, AL832424, BC053873, BC107683, BM046889, DN999977

Consensus CDS

CCDS34109.2

UniProtKB/Swiss-Prot

Q32Q84, Q69YQ1, Q6AWB8, Q6AWC2, Q6ZSY9, Q6ZU09, Q7Z620, Q8TEB8, Q9H6P0

Related

ENSP00000384222.3, ENST00000403733.8

Conserved Domains (6) summary

cd08680
Location:700 → 823

C2_Kibra; C2 domain found in Human protein Kibra

pfam00397
Location:12 → 41

WW; WW domain

pfam11068
Location:351 → 428

YlqD; YlqD protein

cl00057
Location:1034 → 1129

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

cl01720
Location:1093 → 1168

Phage_Nu1; Phage DNA packaging protein Nu1

cl19219
Location:283 → 385

DUF342; Protein of unknown function (DUF342)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

183099257..183320777

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024454225.2 → XP_024309993.1 protein WWC2 isoform X1

Conserved Domains (4) summary

cd08680
Location:602 → 725

C2_Kibra; C2 domain found in Human protein Kibra

cl01720
Location:1019 → 1094

Phage_Nu1; Phage DNA packaging protein Nu1

cl00057
Location:960 → 1055

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

cl25732
Location:66 → 317

SMC_N; RecF/RecN/SMC N terminal domain
XM_047416198.1 → XP_047272154.1 protein WWC2 isoform X2
XM_047416199.1 → XP_047272155.1 protein WWC2 isoform X3

Related

ENSP00000413521.1, ENST00000438543.5