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

Gene ID: 127579, updated on 3-Apr-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in skin (RPKM 28.4), duodenum (RPKM 18.1) and 16 other tissues See more
Orthologs
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Genomic context

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Location:
1q21.3
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (155018527..155033781, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (154157900..154173157, complement)
105.20220307 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
  • 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. OS9 interacts with DC-STAMP and modulates its intracellular localization in response to TLR ligation. Jansen BJ, et al. Mol Immunol, 2009 Feb. PMID 18952287
  2. A novel common variant in DCST2 is associated with length in early life and height in adulthood. van der Valk RJ, et al. Hum Mol Genet, 2015 Feb 15. PMID 25281659, Free PMC Article
  3. RNF208, an estrogen-inducible E3 ligase, targets soluble Vimentin to suppress metastasis in triple-negative breast cancers. Pang K, et al. Nat Commun, 2019 Dec 20. PMID 31862882, Free PMC Article
  4. BRCA2 mediates centrosome cohesion via an interaction with cytoplasmic dynein. Malik S, et al. Cell Cycle, 2016 Aug 17. PMID 27433848, Free PMC Article
  5. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. Eeles RA, et al. Nat Genet, 2013 Apr. PMID 23535732, Free PMC Article

See all (10) citations in PubMed

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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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
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)

Genotypes

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_2023_10

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

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