Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DSCR8 Gene

Subcategory (RNA class) for DSCR8 Gene

non-coding RNA

Quality Score for this RNA gene is

13

Aliases for DSCR8 Gene

  • Down Syndrome Critical Region 8 (Non-Protein Coding) 2 3
  • Cancer/Testis Antigen Family 25, Member 1a 2 3
  • Cancer/Testis Antigen Family 25, Member 1b 2 3
  • Malignant Melanoma-Associated 1 2 3
  • Down Syndrome Critical Region 8 2 5
  • 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 (Non-Protein Coding)) is an RNA Gene, and is affiliated with the non-coding RNA class. Diseases associated with DSCR8 include Down Syndrome.

No data available for Entrez Gene Summary , CIViC 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
GH21G038275 1.8 FANTOM5 Ensembl ENCODE dbSUPER 5.8 +156.2 156210 3.4 SIN3A RAD21 TCF12 GATA2 RCOR1 FOS USF2 JUNB CEBPB SMARCA4 KCNJ15 DSCR8 GC21P038273 GC21M038327
GH21G038285 1.8 FANTOM5 Ensembl ENCODE dbSUPER 4.7 +168.5 168456 8.6 FOXA2 YY1 GATA2 FOS TBX21 SREBF1 CBX8 GLIS1 NR2C1 HNF4A KCNJ15 DSCR8 GC21P038273 GC21M038327
GH21G038305 1.6 FANTOM5 Ensembl ENCODE dbSUPER 4.6 +186.0 185990 3.4 ZBTB21 JUN YBX1 GATA3 CTBP1 ZNF316 GATA2 NFE2 FOS MAFK KCNJ15 DSCR8 GC21M038327 GC21P038273
GH21G038310 1.6 FANTOM5 Ensembl ENCODE dbSUPER 4.6 +189.5 189500 1.5 CEBPB CEBPG EP300 ZBTB40 FOXA1 GATA3 CTBP1 JUND STAT3 FOS ETS2 DSCR8 GC21M038327 GC21P038273
GH21G038280 1.1 FANTOM5 Ensembl dbSUPER 5.8 +159.3 159296 0.5 MAFF MAFK KCNJ15 DSCR8 GC21P038273 GC21M038327
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DSCR8 on UCSC Golden Path with GeneCards custom track

Genomic Location for DSCR8 Gene

Chromosome:
21
Start:
38,121,451 bp from pter
End:
38,188,016 bp from pter
Size:
66,566 bases
Orientation:
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:
    Q96T75-DSCR8_HUMAN
    Recommended name:
    Down syndrome critical region protein 8
    Protein Accession:
    Q96T75
    Secondary Accessions:
    • Q8N3X0
    • Q8NDY5
    • Q96B46

    Protein attributes for DSCR8 Gene

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

    Alternative splice isoforms for DSCR8 Gene

    UniProtKB/Swiss-Prot:

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

ProtoNet:

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

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

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 DSCR8 gene
Compartment Confidence
extracellular 2
mitochondrion 2
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

Selected Interacting proteins: Q96T75-DSCR8_HUMAN for DSCR8 Gene via UniProtKB IID

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

Drugs & Compounds for DSCR8 Gene

No Compound Related Data Available

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
DSCR8
ECgene alternative splicing isoforms for
DSCR8

Expression for DSCR8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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:

DSCR8

SOURCE GeneReport for Unigene cluster for DSCR8 Gene:

Hs.733345

mRNA Expression by UniProt/SwissProt for DSCR8 Gene:

Q96T75-DSCR8_HUMAN
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 , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia DSCR8 35
  • 100 (a)
OneToOne
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

ENSEMBL:
Gene Tree for DSCR8 (if available)
TreeFam:
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
rs1000005696 -- 38,151,646(+) AACTA(A/G)GTAAT intron-variant
rs1000007987 -- 38,134,004(+) CATGC(A/G)CATGA intron-variant
rs1000056109 -- 38,145,395(+) TAATA(G/T)TTCTT intron-variant
rs1000146757 -- 38,122,275(+) GTTAC(A/T)ATGAT intron-variant, upstream-variant-2KB
rs1000180970 -- 38,144,931(+) AAATT(A/G)TGTAA 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
DSCR8

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:
DSCR8
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. 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
  5. 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

Products for DSCR8 Gene

Sources for DSCR8 Gene

Content
Loading form....