Human Gene WWC2 (uc010irx.3)
  Description: Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.
RefSeq Summary (NM_024949): 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].
Transcript (Including UTRs)
   Position: hg19 chr4:184,020,463-184,241,929 Size: 221,467 Total Exon Count: 23 Strand: +
Coding Region
   Position: hg19 chr4:184,020,645-184,236,882 Size: 216,238 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:184,020,463-184,241,929)mRNA (may differ from genome)Protein (1192 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: WWC2_HUMAN
DESCRIPTION: RecName: Full=Protein WWC2; AltName: Full=BH-3-only member B; AltName: Full=WW domain-containing protein 2;
SIMILARITY: Belongs to the WWC family.
SIMILARITY: Contains 1 C2 domain.
SIMILARITY: Contains 2 WW domains.
SEQUENCE CAUTION: Sequence=AAH17957.1; Type=Erroneous initiation; Sequence=AAI07684.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAB15215.1; Type=Erroneous initiation; Sequence=BAB85032.1; Type=Erroneous initiation; Sequence=CAD97477.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): WWC2
CDC HuGE Published Literature: WWC2
Positive Disease Associations: Blood Pressure , Cholesterol , Cholesterol, LDL , Depressive Disorder, Major
Related Studies:
  1. Blood Pressure
    , , . [PubMed 0]
  2. Blood Pressure
    , , . [PubMed 0]
  3. Cholesterol
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.20 RPKM in Cells - Cultured fibroblasts
Total median expression: 142.72 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -87.70182-0.482 Picture PostScript Text
3' UTR -1402.105047-0.278 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008973 - C2_Ca/lipid-bd_dom_CaLB
IPR001202 - WW_Rsp5_WWP

Pfam Domains:
PF00397 - WW domain

SCOP Domains:
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
51045 - WW domain

ModBase Predicted Comparative 3D Structure on Q6AWC2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0019900 kinase binding
GO:0032947 protein complex scaffold

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0035331 negative regulation of hippo signaling
GO:0046621 negative regulation of organ growth

Cellular Component:
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  BX647378 - Homo sapiens mRNA; cDNA DKFZp686M24111 (from clone DKFZp686M24111).
AK126057 - Homo sapiens cDNA FLJ44069 fis, clone TESTI4037188.
AK127061 - Homo sapiens cDNA FLJ45118 fis, clone BRAWH3035904.
JD057017 - Sequence 38041 from Patent EP1572962.
JD331565 - Sequence 312589 from Patent EP1572962.
JD112775 - Sequence 93799 from Patent EP1572962.
JD312671 - Sequence 293695 from Patent EP1572962.
JD065271 - Sequence 46295 from Patent EP1572962.
JD087545 - Sequence 68569 from Patent EP1572962.
JD044679 - Sequence 25703 from Patent EP1572962.
JD348302 - Sequence 329326 from Patent EP1572962.
JD474836 - Sequence 455860 from Patent EP1572962.
BC107683 - Homo sapiens WW and C2 domain containing 2, mRNA (cDNA clone IMAGE:5563155), partial cds.
BC053873 - Homo sapiens WW and C2 domain containing 2, mRNA (cDNA clone IMAGE:5538007), partial cds.
JD547070 - Sequence 528094 from Patent EP1572962.
JD408901 - Sequence 389925 from Patent EP1572962.
JD346118 - Sequence 327142 from Patent EP1572962.
JD248485 - Sequence 229509 from Patent EP1572962.
JD274332 - Sequence 255356 from Patent EP1572962.
JD155223 - Sequence 136247 from Patent EP1572962.
JD267838 - Sequence 248862 from Patent EP1572962.
JD266796 - Sequence 247820 from Patent EP1572962.
BX647704 - Homo sapiens mRNA; cDNA DKFZp686C04201 (from clone DKFZp686C04201).
AK074260 - Homo sapiens cDNA FLJ23680 fis, clone HEP09376.
JD203911 - Sequence 184935 from Patent EP1572962.
JD287055 - Sequence 268079 from Patent EP1572962.
AJ566366 - Homo sapiens mRNA for BH3-only member B protein (BOMB gene).
BC017957 - Homo sapiens WW and C2 domain containing 2, mRNA (cDNA clone IMAGE:4607145), complete cds.
AK025682 - Homo sapiens cDNA: FLJ22029 fis, clone HEP08661.
AK225323 - Homo sapiens mRNA for hypothetical protein LOC80014 variant, clone: HEP08661.
AL832424 - Homo sapiens mRNA; cDNA DKFZp762N102 (from clone DKFZp762N102).
LF208108 - JP 2014500723-A/15611: Polycomb-Associated Non-Coding RNAs.
JD297261 - Sequence 278285 from Patent EP1572962.
JD327587 - Sequence 308611 from Patent EP1572962.
JD566984 - Sequence 548008 from Patent EP1572962.
JD113057 - Sequence 94081 from Patent EP1572962.
JD050144 - Sequence 31168 from Patent EP1572962.
JD305670 - Sequence 286694 from Patent EP1572962.
JD104924 - Sequence 85948 from Patent EP1572962.
JD279855 - Sequence 260879 from Patent EP1572962.
JD454206 - Sequence 435230 from Patent EP1572962.
JD347521 - Sequence 328545 from Patent EP1572962.
JD549017 - Sequence 530041 from Patent EP1572962.
JD063675 - Sequence 44699 from Patent EP1572962.
JD087813 - Sequence 68837 from Patent EP1572962.
LF372431 - JP 2014500723-A/179934: Polycomb-Associated Non-Coding RNAs.
JD524511 - Sequence 505535 from Patent EP1572962.
JD446055 - Sequence 427079 from Patent EP1572962.
JD545371 - Sequence 526395 from Patent EP1572962.
JD369390 - Sequence 350414 from Patent EP1572962.
JD521348 - Sequence 502372 from Patent EP1572962.
LF372430 - JP 2014500723-A/179933: Polycomb-Associated Non-Coding RNAs.
JD327897 - Sequence 308921 from Patent EP1572962.
JD328799 - Sequence 309823 from Patent EP1572962.
JD236558 - Sequence 217582 from Patent EP1572962.
JD457743 - Sequence 438767 from Patent EP1572962.
JD296605 - Sequence 277629 from Patent EP1572962.
JD102587 - Sequence 83611 from Patent EP1572962.
JD302856 - Sequence 283880 from Patent EP1572962.
JD305060 - Sequence 286084 from Patent EP1572962.
JD547904 - Sequence 528928 from Patent EP1572962.
JD228289 - Sequence 209313 from Patent EP1572962.
JD439120 - Sequence 420144 from Patent EP1572962.
JD048798 - Sequence 29822 from Patent EP1572962.
AK091401 - Homo sapiens cDNA FLJ34082 fis, clone FCBBF3004390.
JD084767 - Sequence 65791 from Patent EP1572962.
LF372429 - JP 2014500723-A/179932: Polycomb-Associated Non-Coding RNAs.
LF372425 - JP 2014500723-A/179928: Polycomb-Associated Non-Coding RNAs.
LF372428 - JP 2014500723-A/179931: Polycomb-Associated Non-Coding RNAs.
MA608008 - JP 2018138019-A/179934: Polycomb-Associated Non-Coding RNAs.
MA608007 - JP 2018138019-A/179933: Polycomb-Associated Non-Coding RNAs.
MA608006 - JP 2018138019-A/179932: Polycomb-Associated Non-Coding RNAs.
MA608002 - JP 2018138019-A/179928: Polycomb-Associated Non-Coding RNAs.
MA608005 - JP 2018138019-A/179931: Polycomb-Associated Non-Coding RNAs.
MA443685 - JP 2018138019-A/15611: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: BOMB, NM_024949, NP_079225, Q32Q84, Q69YQ1, Q6AWB8, Q6AWC2, Q6ZSY9, Q6ZU09, Q7Z620, Q8TEB8, Q9H6P0, WWC2_HUMAN
UCSC ID: uc010irx.3
RefSeq Accession: NM_024949
Protein: Q6AWC2 (aka WWC2_HUMAN)
CCDS: CCDS34109.2

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_024949.5
exon count: 23CDS single in 3' UTR: no RNA size: 8822
ORF size: 3579CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 7193.00frame shift in genome: no % Coverage: 99.84
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.