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

    Gene ID: 80014, updated on 2-Nov-2024

    Summary

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    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

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    See WWC2 in Genome Data Viewer
    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_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377578 Neighboring gene Sharpr-MPRA regulatory region 3150 Neighboring gene Sharpr-MPRA regulatory region 10146 Neighboring gene Sharpr-MPRA regulatory region 13144 Neighboring gene Sharpr-MPRA regulatory region 7903 Neighboring gene WWC2 antisense RNA 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:184043402-184043902 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:184043903-184044403 Neighboring gene uncharacterized LOC124900923 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:184103784-184104578 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:184104579-184105373 Neighboring gene WWC2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15826 Neighboring gene small nucleolar RNA U13 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:184216060-184217259 Neighboring gene small nucleolar RNA U13 Neighboring gene claudin 22 Neighboring gene claudin 24

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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?
    1. WWC2 expression in the testis: Implications for spermatogenesis and male fertility.
      Title: WWC2 expression in the testis: Implications for spermatogenesis and male fertility.
    2. 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.
    3. 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.
    4. 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.
    5. 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

    Variation

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    See Variation Viewer (GRCh37.p13)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22029, FLJ34082

    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

    1. NG_051586.1 RefSeqGene

      Range
      5623..227143
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    2. 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

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      183099257..183320777
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    2. XM_047416198.1 → XP_047272154.1  protein WWC2 isoform X2

    3. XM_047416199.1 → XP_047272155.1  protein WWC2 isoform X3

      Related
      ENSP00000413521.1, ENST00000438543.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      186442799..186664233
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350888.1 → XP_054206863.1  protein WWC2 isoform X1

    2. XM_054350889.1 → XP_054206864.1  protein WWC2 isoform X2

    3. XM_054350890.1 → XP_054206865.1  protein WWC2 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6AWC2.2 GenPept UniProtKB/Swiss-Prot:Q6AWC2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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