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Aliases for DSCR8 Gene

Subcategory (RNA class) for DSCR8 Gene


Quality Score for this RNA gene is


Aliases for DSCR8 Gene

  • Down Syndrome Critical Region 8 2 3 5
  • Cancer/Testis Antigen Family 25, Member 1a 2 3
  • Cancer/Testis Antigen Family 25, Member 1b 2 3
  • Malignant Melanoma-Associated 1 2 3
  • C21orf65 3 4
  • MMA-1 3 4
  • MTAG2 3 4
  • Malignant Melanoma Associated Protein 1 3
  • Malignant Melanoma-Associated Protein 1 4
  • Down Syndrome Critical Region Gene 8 3
  • Melanoma-Testis-Associated Protein 2 3
  • Chromosome 21 Open Reading Frame 65 2
  • Cancer/Testis Antigen 25 4
  • Protein MTAG2 4
  • CT25.1a 3
  • CT25.1b 3
  • MMA-1a 3
  • MMA-1b 3
  • MMA1 3
  • CT25 4

External Ids for DSCR8 Gene

Previous HGNC Symbols for DSCR8 Gene

  • C21orf65

Previous GeneCards Identifiers for DSCR8 Gene

  • GC21P036070
  • GC21P038413
  • GC21P038415
  • GC21P039493
  • GC21P024963

Summaries for DSCR8 Gene

GeneCards Summary for DSCR8 Gene

DSCR8 (Down Syndrome Critical Region 8) is an RNA Gene, and is affiliated with the ncRNA class. Diseases associated with DSCR8 include Down Syndrome.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DSCR8 Gene

Genomics for DSCR8 Gene

Regulatory Elements for DSCR8 Gene

Enhancers for DSCR8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21F038983 2.1 VISTA FANTOM5 Ensembl ENCODE 11.6 +869.4 869439 14.2 PKNOX1 ARNT MLX SIN3A ARID4B YBX1 FEZF1 ZNF2 ZNF302 FOS RNF6P1 MYL6P2 DSCR10 LOC100288590 DSCR4 DSCR4-IT1 HMGN1 DSCR8 ETS2 ENSG00000235888
GH21F038733 0.7 Ensembl ENCODE 11.6 +613.8 613821 3.5 TBL1XR1 WRNIP1 ARID4B ZNF2 RAD21 RARA RFX5 ZNF143 RCOR1 ZNF391 DSCR4 DSCR10 LOC100288590 RNF6P1 DSCR4-IT1 MYL6P2 DSCR8 ERG RPSAP64 KCNJ6
GH21F038906 1 FANTOM5 Ensembl ENCODE 11.6 +790.0 789980 9.7 HDGF PKNOX1 CREB3L1 MLX SIN3A YBX1 YY1 ZNF302 ZNF207 ZNF548 BRWD1 HMGN1 RNF6P1 MYL6P2 DSCR4 DSCR10 LOC100288590 DSCR4-IT1 DSCR8 LINC00114
GH21F038138 0.2 ENCODE 6.3 +18.6 18606 2.8 PKNOX1 SIN3A GLI4 FEZF1 YBX1 BRCA1 ZNF207 FOS ZNF263 ZHX2 ENSG00000242553 KCNJ15 DSCR8
GH21F038153 0.3 FANTOM5 6.2 +32.0 32047 0.4 DSCR8 KCNJ15
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DSCR8 on UCSC Golden Path with GeneCards custom track

Genomic Location for DSCR8 Gene

38,121,451 bp from pter
38,188,016 bp from pter
66,566 bases
Plus strand

Genomic View for DSCR8 Gene

Genes around DSCR8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DSCR8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DSCR8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DSCR8 Gene

Proteins for DSCR8 Gene

  • Protein details for DSCR8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Down syndrome critical region protein 8
    Protein Accession:
    Secondary Accessions:
    • Q8N3X0
    • Q8NDY5
    • Q96B46

    Protein attributes for DSCR8 Gene

    97 amino acids
    Molecular mass:
    10969 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DSCR8 Gene


neXtProt entry for DSCR8 Gene

Post-translational modifications for DSCR8 Gene

No Post-translational modifications

Other Protein References for DSCR8 Gene

No data available for DME Specific Peptides for DSCR8 Gene

Domains & Families for DSCR8 Gene

Protein Domains for DSCR8 Gene


Suggested Antigen Peptide Sequences for DSCR8 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DSCR8: view

No data available for Gene Families and UniProtKB/Swiss-Prot for DSCR8 Gene

Function for DSCR8 Gene

Gene Ontology (GO) - Molecular Function for DSCR8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with DSCR8: view

Phenotypes for DSCR8 Gene

genes like me logo Genes that share phenotypes with DSCR8: view

Animal Model Products

miRNA for DSCR8 Gene

miRTarBase miRNAs that target DSCR8

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DSCR8 Gene

Localization for DSCR8 Gene

Subcellular locations from

Jensen Localization Image for DSCR8 Gene COMPARTMENTS Subcellular localization image for DSCR8 gene
Compartment Confidence
extracellular 2
mitochondrion 2
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for DSCR8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with DSCR8: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DSCR8 Gene

Pathways & Interactions for DSCR8 Gene

SuperPathways for DSCR8 Gene

No Data Available

Interacting Proteins for DSCR8 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: ENSP00000350336 Q96T75-DSCR8_HUMAN for DSCR8 Gene via STRING IID UniProtKB

Gene Ontology (GO) - Biological Process for DSCR8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with DSCR8: view

No data available for Pathways by source and SIGNOR curated interactions for DSCR8 Gene

Transcripts for DSCR8 Gene

Unigene Clusters for DSCR8 Gene

Down syndrome critical region gene 8:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DSCR8 Gene

No ASD Table

Relevant External Links for DSCR8 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DSCR8 Gene

mRNA expression in normal human tissues for DSCR8 Gene

mRNA differential expression in normal tissues according to GTEx for DSCR8 Gene

This gene is overexpressed in Testis (x51.6).

NURSA nuclear receptor signaling pathways regulating expression of DSCR8 Gene:


SOURCE GeneReport for Unigene cluster for DSCR8 Gene:


mRNA Expression by UniProt/SwissProt for DSCR8 Gene:

Tissue specificity: Expressed in numerous tissues; not found in breast, heart, small intestine and liver.
genes like me logo Genes that share expression patterns with DSCR8: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for DSCR8 Gene

Orthologs for DSCR8 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for DSCR8 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DSCR8 35
  • 100 (a)
Species where no ortholog for DSCR8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for DSCR8 Gene

Gene Tree for DSCR8 (if available)
Gene Tree for DSCR8 (if available)

Paralogs for DSCR8 Gene

(3) SIMAP similar genes for DSCR8 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DSCR8: view

No data available for Paralogs for DSCR8 Gene

Variants for DSCR8 Gene

Sequence variations from dbSNP and Humsavar for DSCR8 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs1003610 -- 38,151,173(-) tcaca(G/T)actga intron-variant
rs1003611 -- 38,151,171(-) acata(C/T)tgagt intron-variant
rs1013055 -- 38,129,638(+) TCTCA(C/T)TGAAT intron-variant
rs1016695 -- 38,153,455(+) AATAT(A/C)GCTGC intron-variant
rs10584468 -- 38,137,413(+) AAAAA(-/A)TTCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DSCR8 Gene

Variant ID Type Subtype PubMed ID
esv3304050 CNV mobile element insertion 20981092
esv3338824 CNV insertion 20981092
esv3646998 CNV loss 21293372
nsv1058886 CNV gain 25217958
nsv1140163 CNV insertion 24896259
nsv834097 CNV gain 17160897

Variation tolerance for DSCR8 Gene

Gene Damage Index Score: 3.71; 57.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DSCR8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DSCR8 Gene

Disorders for DSCR8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DSCR8 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
down syndrome
  • complete trisomy 21 syndrome
- elite association - COSMIC cancer census association via MalaCards
Search DSCR8 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DSCR8

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with DSCR8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DSCR8 Gene

Publications for DSCR8 Gene

  1. Nineteen additional unpredicted transcripts from human chromosome 21. (PMID: 12036297) Reymond A. … Antonarakis S.E. (Genomics 2002) 2 3 4 64
  2. The MMA1 gene family of cancer-testis antigens has multiple alternative splice variants: characterization of their expression profile, the genomic organization, and transcript properties. (PMID: 15472897) de Wit N.J. … van Muijen G.N. (Genes Chromosomes Cancer 2005) 3 22 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Expression profiling of MMA-1a and splice variant MMA-1b: new cancer/testis antigens identified in human melanoma. (PMID: 11920614) de Wit N.J. … van Muijen G.N. (Int. J. Cancer 2002) 2 3 64
  5. Comparative genomic sequence analysis of the human chromosome 21 Down syndrome critical region. (PMID: 12213769) Toyoda A. … Hattori M. (Genome Res. 2002) 3 4 64

Products for DSCR8 Gene

Sources for DSCR8 Gene

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