Aliases for DCST2 Gene

Aliases for DCST2 Gene

  • DC-STAMP Domain Containing 2 2 3 5
  • DC-STAMP Domain-Containing Protein 2 3 4

External Ids for DCST2 Gene

Previous GeneCards Identifiers for DCST2 Gene

  • GC01M151805
  • GC01M153257
  • GC01M154990
  • GC01M126352

Summaries for DCST2 Gene

GeneCards Summary for DCST2 Gene

DCST2 (DC-STAMP Domain Containing 2) is a Protein Coding gene. Diseases associated with DCST2 include Acromesomelic Dysplasia, Maroteaux Type. An important paralog of this gene is DCST1.

Additional gene information for DCST2 Gene

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 DCST2 Gene

Genomics for DCST2 Gene

GeneHancer (GH) Regulatory Elements for DCST2 Gene

Promoters and enhancers for DCST2 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
GH01J155061 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.3 -29.5 -29533 4.4 RXRA ZNF217 CTCF TCF12 NRF1 USF1 POLR2G SP1 NCOR1 PHF8 EFNA4 DCST1-AS1 ENSG00000251246 DCST2 PYGO2 KHDC4 ENSG00000271267 GON4L ADAM15 UBAP2L
GH01J155033 Promoter 0.3 EPDnew 500.7 0.0 -24 0.1 DCST1 DCST2 HSALNG0007462
GH01J155240 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 18.9 -209.2 -209162 5.5 RXRA ZBTB40 ZNF217 EP300 CTCF ZSCAN5C SIN3A NRF1 TCF12 POLR2G GBA lnc-FAM189B-2 KHDC4 GON4L ENSG00000271267 CLK2 MSTO1 MSTO2P RUSC1-AS1 THBS3
GH01J154324 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.9 +706.6 706648 5.7 ZNF217 EP300 CTCF SIN3A TCF12 NRF1 MYC POLR2G USF1 PHF8 ATP8B2 CLK2 NUP210L DPM3 MTX1 UBE2Q1 ILF2 DCST2 DCST1 FLAD1
GH01J155191 Promoter/Enhancer 2.6 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11 -161.4 -161421 6.5 HNRNPK ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 TCF12 MYC POLR2G ENSG00000231064 MUC1 LOC105371450 MIR92B lnc-THBS3-2 GBAP1 CLK2 MSTO2P MSTO1 UBAP2L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DCST2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DCST2

Top Transcription factor binding sites by QIAGEN in the DCST2 gene promoter:
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for DCST2 Gene

Genomic Locations for DCST2 Gene
chr1:155,017,448-155,033,781
(GRCh38/hg38)
Size:
16,334 bases
Orientation:
Minus strand
chr1:154,990,996-155,006,257
(GRCh37/hg19)
Size:
15,262 bases
Orientation:
Minus strand

Genomic View for DCST2 Gene

Genes around DCST2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DCST2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DCST2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DCST2 Gene

Proteins for DCST2 Gene

  • Protein details for DCST2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T1A1-DCST2_HUMAN
    Recommended name:
    DC-STAMP domain-containing protein 2
    Protein Accession:
    Q5T1A1
    Secondary Accessions:
    • Q2M2R2
    • Q8N810
    • Q96M03

    Protein attributes for DCST2 Gene

    Size:
    773 amino acids
    Molecular mass:
    86230 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC05065.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for DCST2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DCST2 Gene

Post-translational modifications for DCST2 Gene

  • Glycosylation at Asn284, Asn296, and Asn480
  • Modification sites at PhosphoSitePlus

Other Protein References for DCST2 Gene

No data available for DME Specific Peptides for DCST2 Gene

Domains & Families for DCST2 Gene

Gene Families for DCST2 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for DCST2 Gene

Blocks:
  • DC-STAMP-like
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DCST2 Gene

GenScript: Design optimal peptide antigens:
  • DC-STAMP domain-containing protein 2 (DCST2_HUMAN)
  • cDNA FLJ40674 fis, clone THYMU2021684 (Q8N1J0_HUMAN)
genes like me logo Genes that share domains with DCST2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for DCST2 Gene

Function for DCST2 Gene

Phenotypes From GWAS Catalog for DCST2 Gene

genes like me logo Genes that share phenotypes with DCST2: view

miRNA for DCST2 Gene

miRTarBase miRNAs that target DCST2

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 DCST2 Gene

Localization for DCST2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DCST2 Gene

Membrane; Multi-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 DCST2 gene
Compartment Confidence
plasma membrane 3

Gene Ontology (GO) - Cellular Components for DCST2 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 DCST2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DCST2 Gene

Pathways & Interactions for DCST2 Gene

PathCards logo

SuperPathways for DCST2 Gene

No Data Available

Interacting Proteins for DCST2 Gene

;

Gene Ontology (GO) - Biological Process for DCST2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for DCST2 Gene

Drugs & Compounds for DCST2 Gene

No Compound Related Data Available

Transcripts for DCST2 Gene

mRNA/cDNA for DCST2 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DCST2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b
SP1: -
SP2: - -
SP3: - -
SP4: - - - -
SP5: - -

Relevant External Links for DCST2 Gene

GeneLoc Exon Structure for
DCST2

Expression for DCST2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DCST2 Gene

mRNA differential expression in normal tissues according to GTEx for DCST2 Gene

This gene is overexpressed in Testis (x6.3), Skin - Not Sun Exposed (Suprapubic) (x4.7), and Skin - Sun Exposed (Lower leg) (x4.1).

Protein differential expression in normal tissues from HIPED for DCST2 Gene

This gene is overexpressed in Lung (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DCST2 Gene



Protein tissue co-expression partners for DCST2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DCST2

SOURCE GeneReport for Unigene cluster for DCST2 Gene:

Hs.591491
genes like me logo Genes that share expression patterns with DCST2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DCST2 Gene

Orthologs for DCST2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DCST2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DCST2 31 30
  • 99.31 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DCST2 31 30
  • 85.45 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DCST2 31 30
  • 84.39 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dcst2 30
  • 79.37 (n)
mouse
(Mus musculus)
Mammalia Dcst2 17 30
  • 77.17 (n)
oppossum
(Monodelphis domestica)
Mammalia DCST2 31
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DCST2 31
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497585 30
  • 46.85 (n)
zebrafish
(Danio rerio)
Actinopterygii dcst2 31 30
  • 50.88 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6845 31 30
  • 41.45 (n)
OneToMany
CG32320 31
  • 18 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005412 30
  • 40.28 (n)
worm
(Caenorhabditis elegans)
Secernentea spe-42 31 30
  • 35.51 (n)
OneToOne
Species where no ortholog for DCST2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)

Evolution for DCST2 Gene

ENSEMBL:
Gene Tree for DCST2 (if available)
TreeFam:
Gene Tree for DCST2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DCST2: view image

Paralogs for DCST2 Gene

Paralogs for DCST2 Gene

genes like me logo Genes that share paralogs with DCST2: view

Variants for DCST2 Gene

Additional dbSNP identifiers (rs#s) for DCST2 Gene

Structural Variations from Database of Genomic Variants (DGV) for DCST2 Gene

Variant ID Type Subtype PubMed ID
esv2662939 CNV deletion 23128226
esv2676029 CNV deletion 23128226
esv2718396 CNV deletion 23290073
esv2718407 CNV deletion 23290073
esv3587614 CNV loss 21293372
nsv1127033 CNV deletion 24896259
nsv509502 CNV insertion 20534489
nsv952212 CNV deletion 24416366

Variation tolerance for DCST2 Gene

Residual Variation Intolerance Score: 96% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.87; 48.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DCST2 Gene

Human Gene Mutation Database (HGMD)
DCST2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DCST2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DCST2 Gene

Disorders for DCST2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DCST2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
acromesomelic dysplasia, maroteaux type
  • amdm
- elite association - COSMIC cancer census association via MalaCards
Search DCST2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DCST2

genes like me logo Genes that share disorders with DCST2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DCST2 Gene

Publications for DCST2 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. BRCA2 mediates centrosome cohesion via an interaction with cytoplasmic dynein. (PMID: 27433848) Malik S … Nakanishi A (Cell cycle (Georgetown, Tex.) 2016) 3 54
  5. A novel common variant in DCST2 is associated with length in early life and height in adulthood. (PMID: 25281659) van der Valk RJ … Early Growth Genetics (EGG) Consortium (Human molecular genetics 2015) 3 54

Products for DCST2 Gene

Sources for DCST2 Gene