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    WSCD2 WSC domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 9671, updated on 27-Nov-2024

    Summary

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    Official Symbol
    WSCD2provided by HGNC
    Official Full Name
    WSC domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:29117
    See related
    Ensembl:ENSG00000075035 MIM:619253; AllianceGenome:HGNC:29117
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable sulfotransferase activity. Predicted to be located in Golgi membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in thyroid (RPKM 7.6), brain (RPKM 4.6) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See WSCD2 in Genome Data Viewer
    Location:
    12q23.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (108129288..108250537)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (108097493..108218761)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (108523065..108644314)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4824 Neighboring gene uncharacterized LOC105369964 Neighboring gene programmed cell death 2 pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr12:108434034-108434567 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24094 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6957 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6958 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4825 Neighboring gene uncharacterized LOC124903076 Neighboring gene uncharacterized LOC105369965 Neighboring gene uncharacterized LOC124903077 Neighboring gene uncharacterized LOC124903078 Neighboring gene DNA dC->dU-editing enzyme APOBEC-3G-like

    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
    • 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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    Related articles in PubMed

    1. Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders. Lo MT, et al. Nat Genet, 2017 Jan. PMID 27918536, Free PMC Article
    2. High-density association study and nomination of susceptibility genes for hypertension in the Japanese National Project. Kato N, et al. Hum Mol Genet, 2008 Feb 15. PMID 18003638
    3. Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci. Greenwood TA, et al. Biol Psychiatry, 2012 Aug 15. PMID 22365631, Free PMC Article
    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. Nagase T, et al. DNA Res, 1998 Oct 30. PMID 9872452
    5. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. Navarini AA, et al. Nat Commun, 2014 Jun 13. PMID 24927181

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. WSCD2 polymorphism is associated with extraversion.
      Title: Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: High-density association study and nomination of susceptibility genes for hypertension in the Japanese National Project.
    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
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog
    Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ40750, FLJ54414, KIAA0789, MGC117165, MGC168300, MGC168301, DKFZp686E1293

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables sulfotransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    sialate:O-sulfotransferase 2
    Names
    WSC domain-containing protein 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.

    mRNA and Protein(s)

    1. NM_001304447.2 → NP_001291376.1  sialate:O-sulfotransferase 2

      See identical proteins and their annotated locations for NP_001291376.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC009729, BX647283
      Consensus CDS
      CCDS41828.1
      UniProtKB/Swiss-Prot
      B2RN48, B4DES1, Q2TBF2, Q8IY35, Q9Y4B7
      Related
      ENSP00000331933.4, ENST00000332082.8
      Conserved Domains (2) summary
      smart00321
      Location:127 → 219
      WSC; present in yeast cell wall integrity and stress response component proteins
      cl21551
      Location:415 → 507
      Sulfotransfer_1; Sulfotransferase domain

    2. NM_014653.4 → NP_055468.2  sialate:O-sulfotransferase 2

      See identical proteins and their annotated locations for NP_055468.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC009729, BC110330, BX647283, DA095713
      Consensus CDS
      CCDS41828.1
      UniProtKB/Swiss-Prot
      B2RN48, B4DES1, Q2TBF2, Q8IY35, Q9Y4B7
      Related
      ENSP00000448047.1, ENST00000547525.6
      Conserved Domains (2) summary
      smart00321
      Location:127 → 219
      WSC; present in yeast cell wall integrity and stress response component proteins
      cl21551
      Location:415 → 507
      Sulfotransfer_1; Sulfotransferase domain

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      108129288..108250537
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017020244.2 → XP_016875733.1  sialate:O-sulfotransferase 2 isoform X1

      UniProtKB/Swiss-Prot
      B2RN48, B4DES1, Q2TBF2, Q8IY35, Q9Y4B7
      Conserved Domains (2) summary
      smart00321
      Location:127 → 219
      WSC; present in yeast cell wall integrity and stress response component proteins
      cl21551
      Location:415 → 507
      Sulfotransfer_1; Sulfotransferase domain

    2. XM_017020243.2 → XP_016875732.1  sialate:O-sulfotransferase 2 isoform X1

      UniProtKB/Swiss-Prot
      B2RN48, B4DES1, Q2TBF2, Q8IY35, Q9Y4B7
      Conserved Domains (2) summary
      smart00321
      Location:127 → 219
      WSC; present in yeast cell wall integrity and stress response component proteins
      cl21551
      Location:415 → 507
      Sulfotransfer_1; Sulfotransferase domain

    3. XM_017020248.2 → XP_016875737.1  sialate:O-sulfotransferase 2 isoform X1

      UniProtKB/Swiss-Prot
      B2RN48, B4DES1, Q2TBF2, Q8IY35, Q9Y4B7
      Conserved Domains (2) summary
      smart00321
      Location:127 → 219
      WSC; present in yeast cell wall integrity and stress response component proteins
      cl21551
      Location:415 → 507
      Sulfotransfer_1; Sulfotransferase domain

    4. XM_017020252.2 → XP_016875741.1  sialate:O-sulfotransferase 2 isoform X2

      Conserved Domains (2) summary
      smart00321
      Location:130 → 224
      WSC; present in yeast cell wall integrity and stress response component proteins
      cl21551
      Location:315 → 407
      Sulfotransfer_3; Sulfotransferase family

    5. XM_017020250.3 → XP_016875739.1  sialate:O-sulfotransferase 2 isoform X2

      Conserved Domains (2) summary
      smart00321
      Location:130 → 224
      WSC; present in yeast cell wall integrity and stress response component proteins
      cl21551
      Location:315 → 407
      Sulfotransfer_3; Sulfotransferase family

    6. XM_047429914.1 → XP_047285870.1  sialate:O-sulfotransferase 2 isoform X3

    7. XM_017020245.2 → XP_016875734.1  sialate:O-sulfotransferase 2 isoform X1

      UniProtKB/Swiss-Prot
      B2RN48, B4DES1, Q2TBF2, Q8IY35, Q9Y4B7
      Conserved Domains (2) summary
      smart00321
      Location:127 → 219
      WSC; present in yeast cell wall integrity and stress response component proteins
      cl21551
      Location:415 → 507
      Sulfotransfer_1; Sulfotransferase domain

    8. XM_017020251.3 → XP_016875740.1  sialate:O-sulfotransferase 2 isoform X2

      Conserved Domains (2) summary
      smart00321
      Location:130 → 224
      WSC; present in yeast cell wall integrity and stress response component proteins
      cl21551
      Location:315 → 407
      Sulfotransfer_3; Sulfotransferase family

    9. XM_017020247.2 → XP_016875736.1  sialate:O-sulfotransferase 2 isoform X1

      UniProtKB/Swiss-Prot
      B2RN48, B4DES1, Q2TBF2, Q8IY35, Q9Y4B7
      Conserved Domains (2) summary
      smart00321
      Location:127 → 219
      WSC; present in yeast cell wall integrity and stress response component proteins
      cl21551
      Location:415 → 507
      Sulfotransfer_1; Sulfotransferase domain

    10. XM_017020246.3 → XP_016875735.1  sialate:O-sulfotransferase 2 isoform X1

      UniProtKB/Swiss-Prot
      B2RN48, B4DES1, Q2TBF2, Q8IY35, Q9Y4B7
      Related
      ENSP00000447272.1, ENST00000549903.1
      Conserved Domains (2) summary
      smart00321
      Location:127 → 219
      WSC; present in yeast cell wall integrity and stress response component proteins
      cl21551
      Location:415 → 507
      Sulfotransfer_1; Sulfotransferase domain

    11. XM_047429913.1 → XP_047285869.1  sialate:O-sulfotransferase 2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      108097493..108218761
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373880.1 → XP_054229855.1  sialate:O-sulfotransferase 2 isoform X1

    2. XM_054373879.1 → XP_054229854.1  sialate:O-sulfotransferase 2 isoform X1

    3. XM_054373884.1 → XP_054229859.1  sialate:O-sulfotransferase 2 isoform X1

    4. XM_054373888.1 → XP_054229863.1  sialate:O-sulfotransferase 2 isoform X2

    5. XM_054373885.1 → XP_054229860.1  sialate:O-sulfotransferase 2 isoform X2

    6. XM_054373889.1 → XP_054229864.1  sialate:O-sulfotransferase 2 isoform X3

    7. XM_054373881.1 → XP_054229856.1  sialate:O-sulfotransferase 2 isoform X1

    8. XM_054373886.1 → XP_054229861.1  sialate:O-sulfotransferase 2 isoform X2

    9. XM_054373883.1 → XP_054229858.1  sialate:O-sulfotransferase 2 isoform X1

    10. XM_054373882.1 → XP_054229857.1  sialate:O-sulfotransferase 2 isoform X1

    11. XM_054373887.1 → XP_054229862.1  sialate:O-sulfotransferase 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2TBF2.2 GenPept UniProtKB/Swiss-Prot:Q2TBF2

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