Aliases for WSCD2 Gene

Aliases for WSCD2 Gene

  • WSC Domain Containing 2 2 3 5
  • WSC Domain-Containing Protein 2 3 4
  • KIAA0789 2 4
  • WSCD2 5

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 and Lateral Meningocele Syndrome. An important paralog of this gene is WSCD1.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for WSCD2 Gene

Genomics for WSCD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH12J108129 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 608.7 +0.3 313 1.6 CTCF HNRNPL PRDM10 IKZF1 KDM1A ZNF692 PRDM1 ZIC2 ZSCAN4 POLR2A WSCD2 lnc-FICD-4 lnc-CMKLR1-3 CMKLR1
GH12J108131 Promoter 0.6 EPDnew 608.3 +2.5 2479 0.1 ZIC2 ZBTB48 ZBTB17 GLIS1 GLIS2 WSCD2 lnc-FICD-4 lnc-CMKLR1-3 CMKLR1
GH12J109051 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 15.1 +924.0 924038 3.4 ZNF221 SP1 GATAD2A TEAD4 ZNF629 TFE3 RFX1 SIX5 LEF1 IKZF1 USP30 USP30-AS1 SART3 RNU4-32P UBE3B WSCD2 CORO1C TCHP KCTD10 MN297188
GH12J109096 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 15.1 +969.4 969402 3.4 SP1 CREB1 TFE3 LEF1 KDM1A ZNF692 FOS LARP7 DDX20 ZIC2 UNG ALKBH2 WSCD2 ACACB MYO1H lnc-ACACB-2
GH12J108851 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.7 +725.5 725543 8.7 SP1 CREB1 ZBTB33 PRDM10 LEF1 IKZF1 KDM1A CTCF POLR2A BACH1 CORO1C SSH1 SART3 ALKBH2 UBE3B WSCD2 ENSG00000257221 SELPLG DAO lnc-DAO-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WSCD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for WSCD2

Top Transcription factor binding sites by QIAGEN in the WSCD2 gene promoter:
  • AML1a
  • AP-2alphaA
  • AREB6
  • ATF-2
  • CUTL1
  • E47
  • RORalpha1
  • Tal-1

Genomic Locations for WSCD2 Gene

Genomic Locations for WSCD2 Gene
chr12:108,129,288-108,250,537
(GRCh38/hg38)
Size:
121,250 bases
Orientation:
Plus strand
chr12:108,523,248-108,644,314
(GRCh37/hg19)
Size:
121,067 bases
Orientation:
Plus strand

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 Asn189 and Asn242
  • 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

Protein Domains for WSCD2 Gene

InterPro:
Blocks:
  • Carbohydrate-binding WSC
ProtoNet:

Suggested Antigen Peptide Sequences for WSCD2 Gene

GenScript: Design optimal peptide antigens:
  • WSC domain-containing protein 2 (WSCD2_HUMAN)

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

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WSCD2

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
golgi apparatus 2
extracellular 1
mitochondrion 0
peroxisome 0
lysosome 0

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:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with WSCD2: view

Pathways & Interactions for WSCD2 Gene

PathCards logo

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

mRNA/cDNA for WSCD2 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WSCD2

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

Expression for WSCD2 Gene

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



Protein tissue co-expression partners for WSCD2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for WSCD2

SOURCE GeneReport for Unigene cluster for WSCD2 Gene:

Hs.143591

Evidence on tissue expression from TISSUES for WSCD2 Gene

  • Nervous system(4.9)
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 30 31
  • 99.47 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia WSCD2 30 31
  • 90.37 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia WSCD2 30 31
  • 89.83 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Wscd2 30 17 31
  • 86.41 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Wscd2 30
  • 85.66 (n)
Oppossum
(Monodelphis domestica)
Mammalia WSCD2 31
  • 84 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia WSCD2 31
  • 40 (a)
OneToOne
Chicken
(Gallus gallus)
Aves WSCD2 30 31
  • 77.5 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia WSCD2 31
  • 79 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii wscd2 30 31
  • 68.45 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3145 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG9164 31
  • 35 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes WSC3 33
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 27 (a)
OneToMany
Species where no ortholog for WSCD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for WSCD2: view image

Paralogs for WSCD2 Gene

Paralogs for WSCD2 Gene

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

  • WSCD2_HUMAN
  • F8W030_HUMAN
genes like me logo Genes that share paralogs with WSCD2: view

Variants for WSCD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for WSCD2 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
689687 Uncertain Significance: Marfanoid habitus and intellectual disability 108,210,251(+) G/A MISSENSE_VARIANT
782782 Benign: not provided 108,248,022(+) G/A SYNONYMOUS_VARIANT
rs3764002 - p.Thr266Ile

Additional dbSNP identifiers (rs#s) for WSCD2 Gene

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

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

Disorder Aliases PubMed IDs
porokeratosis
  • porokeratosis of mibelli
lateral meningocele syndrome
  • lmns
congenital stationary night blindness
  • congenital essential nyctalopia
- 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
Open Targets Platform
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 41
  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 41
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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
  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

Products for WSCD2 Gene

Sources for WSCD2 Gene