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Aliases for WSCD2 Gene

Aliases for WSCD2 Gene

  • WSC Domain Containing 2 2 3 5
  • KIAA0789 4

External Ids for WSCD2 Gene

Previous GeneCards Identifiers for WSCD2 Gene

  • GC12P107047
  • GC12P108523
  • GC12P105587

Summaries for WSCD2 Gene

GeneCards Summary for WSCD2 Gene

WSCD2 (WSC Domain Containing 2) is a Protein Coding gene. Diseases associated with WSCD2 include Porokeratosis. An important paralog of this gene is WSCD1.

Additional gene information for WSCD2 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WSCD2 Gene

Genomics for WSCD2 Gene

GeneHancer (GH) Regulatory Elements for WSCD2 Gene

Promoters and enhancers for WSCD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I108129 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 558.8 +0.4 374 1 HDGF GLIS2 CBX5 ZNF143 ATF7 ZNF592 GMEB1 SMARCA4 MYNN GLIS1 WSCD2 GC12P108090 PIR33910
GH12I108131 Promoter 0.8 EPDnew 558.4 +2.4 2424 0.1 GLIS2 ZBTB48 GLIS1 ZIC2 ZBTB17 WSCD2 GC12P108090 PIR33910
GH12I109096 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 15.1 +969.3 969345 3.4 PKNOX1 CLOCK ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 UNG WSCD2 ACACB RNU4-32P SART3 UBE3B MYO1H GC12M109089 GC12P109057 GC12P109058
GH12I109051 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 15.1 +924.2 924151 3.1 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 USP30 USP30-AS1 SART3 RNU4-32P ALKBH2 UBE3B WSCD2 TCHP
GH12I108578 Enhancer 0.7 ENCODE 15.1 +449.7 449715 0.8 HDGF ESRRA ZNF211 TSC22D4 SALL2 YBX1 ZKSCAN1 ZFHX2 ZNF791 ZNF239 SART3 PWP1 PRDM4 UBE3B WSCD2 ALKBH2 LOC101929162 USP30 KCTD10 RNU4-32P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around WSCD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the WSCD2 gene promoter:

Genomic Locations for WSCD2 Gene

Genomic Locations for WSCD2 Gene
chr12:108,129,343-108,250,537
(GRCh38/hg38)
Size:
121,195 bases
Orientation:
Plus strand
chr12:108,523,248-108,644,314
(GRCh37/hg19)

Genomic View for WSCD2 Gene

Genes around WSCD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WSCD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WSCD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WSCD2 Gene

Proteins for WSCD2 Gene

  • Protein details for WSCD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2TBF2-WSCD2_HUMAN
    Recommended name:
    WSC domain-containing protein 2
    Protein Accession:
    Q2TBF2
    Secondary Accessions:
    • B2RN48
    • B4DES1
    • Q8IY35
    • Q9Y4B7

    Protein attributes for WSCD2 Gene

    Size:
    565 amino acids
    Molecular mass:
    63817 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH37969.2; Type=Miscellaneous discrepancy; Note=Contaminating sequence. The N-terminus may be contaminated with vector sequence.; Evidence={ECO:0000305}; Sequence=BAA34509.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for WSCD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WSCD2 Gene

Post-translational modifications for WSCD2 Gene

  • Glycosylation at posLast=189189 and posLast=242242
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for WSCD2 Gene

Domains & Families for WSCD2 Gene

Gene Families for WSCD2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for WSCD2 Gene

Suggested Antigen Peptide Sequences for WSCD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q2TBF2

UniProtKB/Swiss-Prot:

WSCD2_HUMAN :
  • Belongs to the WSCD family.
Family:
  • Belongs to the WSCD family.
genes like me logo Genes that share domains with WSCD2: view

Function for WSCD2 Gene

Phenotypes From GWAS Catalog for WSCD2 Gene

Phenotypes for WSCD2 Gene

genes like me logo Genes that share phenotypes with WSCD2: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for WSCD2 Gene

Localization for WSCD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WSCD2 Gene

Membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WSCD2 gene
Compartment Confidence
extracellular 2
golgi apparatus 2
mitochondrion 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for WSCD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with WSCD2: view

Pathways & Interactions for WSCD2 Gene

SuperPathways for WSCD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for WSCD2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for WSCD2 Gene

Drugs & Compounds for WSCD2 Gene

No Compound Related Data Available

Transcripts for WSCD2 Gene

Unigene Clusters for WSCD2 Gene

WSC domain containing 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for WSCD2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^
SP1: - - -
SP2: - - - - - - -
SP3: -
SP4: - - - - - - - - - - - - -
SP5: -
SP6: - - - - -
SP7: - - - - -
SP8: - - - - -
SP9: - -
SP10:
SP11: - - -

ExUns: 13 ^ 14a · 14b
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for WSCD2 Gene

GeneLoc Exon Structure for
WSCD2
ECgene alternative splicing isoforms for
WSCD2

Expression for WSCD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for WSCD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for WSCD2 Gene

This gene is overexpressed in Brain - Cerebellum (x12.3) and Brain - Cerebellar Hemisphere (x11.0).

Protein differential expression in normal tissues from HIPED for WSCD2 Gene

This gene is overexpressed in Pancreatic juice (55.2) and Spleen (13.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for WSCD2 Gene



Protein tissue co-expression partners for WSCD2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of WSCD2 Gene:

WSCD2

SOURCE GeneReport for Unigene cluster for WSCD2 Gene:

Hs.143591

Evidence on tissue expression from TISSUES for WSCD2 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with WSCD2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for WSCD2 Gene

Orthologs for WSCD2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for WSCD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WSCD2 33 34
  • 99.47 (n)
cow
(Bos Taurus)
Mammalia WSCD2 33 34
  • 90.37 (n)
dog
(Canis familiaris)
Mammalia WSCD2 33 34
  • 89.83 (n)
mouse
(Mus musculus)
Mammalia Wscd2 33 16 34
  • 86.41 (n)
rat
(Rattus norvegicus)
Mammalia Wscd2 33
  • 85.66 (n)
oppossum
(Monodelphis domestica)
Mammalia WSCD2 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WSCD2 34
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves WSCD2 33 34
  • 77.5 (n)
lizard
(Anolis carolinensis)
Reptilia WSCD2 34
  • 79 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii wscd2 33 34
  • 68.45 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3145 33
fruit fly
(Drosophila melanogaster)
Insecta CG9164 34
  • 35 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes WSC3 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 27 (a)
OneToMany
Species where no ortholog for WSCD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for WSCD2 Gene

ENSEMBL:
Gene Tree for WSCD2 (if available)
TreeFam:
Gene Tree for WSCD2 (if available)

Paralogs for WSCD2 Gene

Paralogs for WSCD2 Gene

(1) SIMAP similar genes for WSCD2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with WSCD2: view

Variants for WSCD2 Gene

Sequence variations from dbSNP and Humsavar for WSCD2 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000001833 -- 108,205,359(+) A/G intron_variant
rs1000008605 -- 108,247,481(+) G/C intron_variant
rs1000012321 -- 108,132,680(+) C/T intron_variant
rs1000080930 -- 108,176,968(+) G/C intron_variant
rs1000098806 -- 108,211,674(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for WSCD2 Gene

Variant ID Type Subtype PubMed ID
esv2665617 CNV deletion 23128226
esv2676544 CNV deletion 23128226
esv3386246 CNV duplication 20981092
esv3630703 CNV loss 21293372
esv8762 CNV loss 19470904
nsv1041167 CNV gain 25217958
nsv832512 CNV gain 17160897

Variation tolerance for WSCD2 Gene

Residual Variation Intolerance Score: 38.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.59; 91.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for WSCD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
WSCD2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WSCD2 Gene

Disorders for WSCD2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for WSCD2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
porokeratosis
  • disseminated superficial actinic porokeratosis
- elite association - COSMIC cancer census association via MalaCards
Search WSCD2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for WSCD2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with WSCD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for WSCD2 Gene

Publications for WSCD2 Gene

  1. Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci. (PMID: 22365631) Greenwood TA … Kelsoe JR (Biological psychiatry 2012) 3 44 58
  2. High-density association study and nomination of susceptibility genes for hypertension in the Japanese National Project. (PMID: 18003638) Kato N … Tomoike H (Human molecular genetics 2008) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 3 4 58
  5. Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders. (PMID: 27918536) Lo MT … Chen CH (Nature genetics 2017) 3 58

Products for WSCD2 Gene

Sources for WSCD2 Gene

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