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    DCST2 DC-STAMP domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 127579, updated on 2-Nov-2024

    Summary

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    Official Symbol
    DCST2provided by HGNC
    Official Full Name
    DC-STAMP domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:26562
    See related
    Ensembl:ENSG00000163354 MIM:619861; AllianceGenome:HGNC:26562
    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
    Also known as
    SPE42
    Summary
    Predicted to be involved in fusion of sperm to egg plasma membrane involved in single fertilization and sperm-egg recognition. Predicted to be located in acrosomal membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in skin (RPKM 28.4), duodenum (RPKM 18.1) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DCST2 in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (155018527..155033781, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (154157900..154173157, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (154991003..155006257, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154971857-154972809 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1375 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1376 Neighboring gene lens epithelial protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1378 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1379 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154977250-154977922 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154980166-154980880 Neighboring gene zinc finger and BTB domain containing 7B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154982382-154983131 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154984631-154985378 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:154989823 Neighboring gene DC-STAMP domain containing 1 Neighboring gene DCST1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1802 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1383 Neighboring gene ADAM15-EFNA4 readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:155029213-155030023 Neighboring gene ADAM metallopeptidase domain 15

    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. This study highlights that common variation in DCST2 influences variation in early growth and adult height.
      Title: A novel common variant in DCST2 is associated with length in early life and height in adulthood.
    2. OS9 is critically involved in the modulation of ER-to-Golgi transport of DC-STAMP in response to TLR triggering, suggesting a novel role for OS9 in myeloid differentiation and cell fusion.
      Title: OS9 interacts with DC-STAMP and modulates its intracellular localization in response to TLR ligation.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A novel common variant in DCST2 is associated with length in early life and height in adulthood.
    EBI GWAS Catalog
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • FLJ32934

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in fusion of sperm to egg plasma membrane involved in single fertilization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sperm-egg recognition ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in acrosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    DC-STAMP 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_144622.3 → NP_653223.2  DC-STAMP domain-containing protein 2

      See identical proteins and their annotated locations for NP_653223.2

      Status: VALIDATED

      Source sequence(s)
      AA401747, BC111794, DB025590
      Consensus CDS
      CCDS1082.2
      UniProtKB/Swiss-Prot
      Q2M2R2, Q5T1A1, Q8N810, Q96M03
      Related
      ENSP00000357409.3, ENST00000368424.4
      Conserved Domains (2) summary
      pfam07782
      Location:354 → 544
      DC_STAMP; DC-STAMP-like protein
      pfam16031
      Location:720 → 757
      TonB_N; TonB N-terminal region

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      155018527..155033781 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011509188.3 → XP_011507490.1  DC-STAMP domain-containing protein 2 isoform X2

      UniProtKB/TrEMBL
      Q8N1J0
      Conserved Domains (2) summary
      pfam07782
      Location:134 → 324
      DC_STAMP; DC-STAMP-like protein
      pfam16031
      Location:500 → 537
      TonB_N; TonB N-terminal region

    2. XM_047445576.1 → XP_047301532.1  DC-STAMP domain-containing protein 2 isoform X2

    3. XM_011509189.3 → XP_011507491.1  DC-STAMP domain-containing protein 2 isoform X3

      UniProtKB/TrEMBL
      Q8N1J0
      Related
      ENST00000368423.5
      Conserved Domains (2) summary
      pfam07782
      Location:22 → 212
      DC_STAMP; DC-STAMP-like protein
      pfam16031
      Location:388 → 425
      TonB_N; TonB N-terminal region

    4. XM_047445571.1 → XP_047301527.1  DC-STAMP domain-containing protein 2 isoform X1

      Related
      ENSP00000436964.1, ENST00000485982.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      154157900..154173157 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334346.1 → XP_054190321.1  DC-STAMP domain-containing protein 2 isoform X2

    2. XM_054334347.1 → XP_054190322.1  DC-STAMP domain-containing protein 2 isoform X2

    3. XM_054334348.1 → XP_054190323.1  DC-STAMP domain-containing protein 2 isoform X3

    4. XM_054334345.1 → XP_054190320.1  DC-STAMP domain-containing protein 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5T1A1.2 GenPept UniProtKB/Swiss-Prot:Q5T1A1

    Gene LinkOut

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

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