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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 2 3
  • Down Syndrome Critical Region 8 (Non-Protein Coding) 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
  • DCR1-24.0 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 non-coding RNA class. Diseases associated with DSCR8 include Down Syndrome.

Additional gene information for DSCR8 Gene

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

GeneHancer (GH) Regulatory Elements for DSCR8 Gene

Promoters and enhancers for DSCR8 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
GH21J038120 Promoter/Enhancer 1.4 EPDnew ENCODE 650.7 +0.2 211 1.5 HDGF PKNOX1 SMAD1 ATF1 ARNT YY1 POLR2B E2F8 ZFP91 FOS DSCR4 DSCR8 KCNJ6 KCNJ15
GH21J038983 Enhancer 2.2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 10.3 +868.0 867974 11.3 PKNOX1 SMAD1 FOXA2 MLX ARNT ARID4B SIN3A YBX1 FEZF1 ZNF2 HMGN1 RNF6P1 MYL6P2 DSCR10 LOC100288590 DSCR4 DSCR4-IT1 DSCR8 ETS2 ENSG00000235888
GH21J038906 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.3 +790.0 789979 9.7 HDGF PKNOX1 CLOCK FOXA2 MLX NEUROD1 SIN3A YBX1 ZBTB7B YY1 HMGN1 LCA5L RNF6P1 DSCR10 LOC100288590 DSCR4 MYL6P2 DSCR4-IT1 PSMG1 DSCR8
GH21J038733 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.3 +613.8 613820 3.5 ARID4B SIN3A ZNF2 IRF4 YY1 ARID2 ZNF143 RXRA MXD4 REST RNF6P1 DSCR4 DSCR10 LOC100288590 MYL6P2 DSCR4-IT1 ERG RPSAP64 DSCR8 KCNJ6
GH21J038275 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 5.8 +156.2 156209 3.4 SIN3A RAD21 TCF12 RCOR1 FOS USF2 CEBPB REST SP1 SMARCA4 KCNJ15 DSCR8 GC21P038273 GC21M038327
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DSCR8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DSCR8 gene promoter:
  • PPAR-gamma2
  • PPAR-gamma1
  • POU2F1a
  • POU2F1
  • Chx10
  • AREB6
  • GR-alpha
  • GR
  • FOXD3
  • FOXI1

Genomic Locations for DSCR8 Gene

Genomic Locations for DSCR8 Gene
chr21:38,121,451-38,156,511
(GRCh38/hg38)
Size:
35,061 bases
Orientation:
Plus strand
chr21:39,493,545-39,560,110
(GRCh37/hg19)
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:
    • Q684H4
    • Q6EXA9
    • Q8N3X0
    • Q8NDY5
    • Q96B46

    Protein attributes for DSCR8 Gene

    Size:
    97 amino acids
    Molecular mass:
    10969 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Potential cancer-testis antigen, with expression restricted to the testis and certain malignant cells.

    Alternative splice isoforms for DSCR8 Gene

neXtProt entry for DSCR8 Gene

Post-translational modifications for DSCR8 Gene

No Post-translational modifications

No data available for DME Specific Peptides for DSCR8 Gene

Domains & Families for DSCR8 Gene

Gene Families for DSCR8 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 UniProtKB/Swiss-Prot for DSCR8 Gene

Function for DSCR8 Gene

Phenotypes From GWAS Catalog 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
genes like me logo Genes that share phenotypes with DSCR8: view

Animal Model Products

miRNA for DSCR8 Gene

miRTarBase miRNAs that target DSCR8

Clone 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

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 and Subcellular locations from the Human Protein Atlas (HPA) 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 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

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:

Clone Products

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 (PubMed:12036297). Isoform 1: Predominantly expressed in the testis (PubMed:11920614, PubMed:15472897). Isoform 3: Predominantly expressed in the testis, at lower level in the placenta, during malignant progression of melanocytic tumors and in several tumors of varying origins (PubMed:11920614, PubMed:15472897). Isoform 4: Predominantly expressed in the testis, at lower level in the placenta, during malignant progression of melanocytic tumors and in several tumors of varying origins (PubMed:11920614, PubMed:15472897). Isoform 5: Predominantly expressed in the testis (PubMed:11920614, PubMed:15472897). Isoform 6: Predominantly expressed in the testis (PubMed:11920614, PubMed:15472897).
genes like me logo Genes that share expression patterns with DSCR8: view

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 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DSCR8: view image

Paralogs for DSCR8 Gene

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

  • DSCR8_HUMAN
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 Variation AA Info Type
rs1000005696 -- 38,151,646(+) A/G intron_variant
rs1000007987 -- 38,134,004(+) A/G intron_variant
rs1000056109 -- 38,145,395(+) T/G intron_variant
rs1000146757 -- 38,122,275(+) T/A intron_variant
rs1000180970 -- 38,144,931(+) A/G/T 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)

Additional Variant Information for DSCR8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DSCR8

SNP Genotyping and Copy Number Assay Products

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
  • trisomy 21
- elite association - COSMIC cancer census association via MalaCards
Search DSCR8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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. 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 NJ … van Muijen GN (Genes, chromosomes & cancer 2005) 3 4 22 58
  2. Expression profiling of MMA-1a and splice variant MMA-1b: new cancer/testis antigens identified in human melanoma. (PMID: 11920614) de Wit NJ … van Muijen GN (International journal of cancer 2002) 2 3 4 58
  3. Nineteen additional unpredicted transcripts from human chromosome 21. (PMID: 12036297) Reymond A … Antonarakis SE (Genomics 2002) 2 3 4 58
  4. 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 58
  5. Comparative genomic sequence analysis of the human chromosome 21 Down syndrome critical region. (PMID: 12213769) Toyoda A … Hattori M (Genome research 2002) 3 4 58

Products for DSCR8 Gene

Sources for DSCR8 Gene

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