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Aliases for DOPEY2 Gene

Aliases for DOPEY2 Gene

  • Dopey Family Member 2 2 3 5
  • C21orf5 3 4
  • Chromosome 21 Open Reading Frame 5 2
  • Homolog Of Yeast DOP1 3
  • Protein Dopey-2 3
  • KIAA0933 4
  • 21orf5 3

External Ids for DOPEY2 Gene

Previous HGNC Symbols for DOPEY2 Gene

  • C21orf5

Previous GeneCards Identifiers for DOPEY2 Gene

  • GC21P036459
  • GC21P037529
  • GC21P023014

Summaries for DOPEY2 Gene

GeneCards Summary for DOPEY2 Gene

DOPEY2 (Dopey Family Member 2) is a Protein Coding gene. Diseases associated with DOPEY2 include Down Syndrome. An important paralog of this gene is DOPEY1.

UniProtKB/Swiss-Prot for DOPEY2 Gene

  • May be involved in protein traffic between late Golgi and early endosomes.

Gene Wiki entry for DOPEY2 Gene

Additional gene information for DOPEY2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DOPEY2 Gene

Genomics for DOPEY2 Gene

Regulatory Elements for DOPEY2 Gene

Enhancers for DOPEY2 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
GH21H036155 1.6 FANTOM5 ENCODE dbSUPER 41.1 -0.3 -276 2 HDGF PKNOX1 SIN3A YY1 ZNF121 GLIS2 ZNF207 KLF7 ATF7 SP3 SETD4 RIMKLBP1 DOPEY2 MORC3 CBR3 CBR1 GC21P036137
GH21H036141 1.5 Ensembl ENCODE dbSUPER 41.3 -15.1 -15101 1 PKNOX1 FOXA2 ARID4B SIN3A YY1 ZNF143 FOS ATF7 DEK SP3 DOPEY2 CBR3 MORC3 GC21P036137
GH21H036149 1.4 Ensembl ENCODE dbSUPER 41.8 -6.4 -6382 1 HDAC1 TBP PKNOX1 ATF1 ZBTB40 RARA ZNF121 CBX5 ELK1 RUNX3 DOPEY2 RIMKLBP1 SETD4 CBR3 GC21P036137
GH21H036112 1.9 FANTOM5 Ensembl ENCODE dbSUPER 30.6 -43.1 -43053 2 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 SP3 DOPEY2 SETD4 RIMKLBP1 CBR3 MORC3 LOC105369295 TTC3 LOC105369306 LOC100133286
GH21H036133 1.3 ENCODE dbSUPER 41.6 -21.4 -21386 2 SIN3A GLI4 ZNF2 ZNF121 GLIS2 ZNF416 KLF7 ZNF548 ATF7 SP3 SETD4 DOPEY2 MORC3 RIMKLBP1 LOC105369295 ENSG00000230794 MRPL20P1 CBR3 TTC3 RPL23AP3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DOPEY2 on UCSC Golden Path with GeneCards custom track

Promoters for DOPEY2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000141989 218 2001 HDGF PKNOX1 SIN3A YY1 ZNF121 GLIS2 ZNF207 KLF7 ATF7 SP3

Genomic Location for DOPEY2 Gene

Chromosome:
21
Start:
36,156,782 bp from pter
End:
36,294,274 bp from pter
Size:
137,493 bases
Orientation:
Plus strand

Genomic View for DOPEY2 Gene

Genes around DOPEY2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DOPEY2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DOPEY2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DOPEY2 Gene

Proteins for DOPEY2 Gene

  • Protein details for DOPEY2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y3R5-DOP2_HUMAN
    Recommended name:
    Protein dopey-2
    Protein Accession:
    Q9Y3R5
    Secondary Accessions:
    • D3DSG5
    • Q6PJQ7
    • Q9UEZ3

    Protein attributes for DOPEY2 Gene

    Size:
    2298 amino acids
    Molecular mass:
    258230 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DOPEY2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DOPEY2 Gene

Post-translational modifications for DOPEY2 Gene

  • Ubiquitination at posLast=2323 and posLast=420420
  • Modification sites at PhosphoSitePlus

Other Protein References for DOPEY2 Gene

No data available for DME Specific Peptides for DOPEY2 Gene

Domains & Families for DOPEY2 Gene

Gene Families for DOPEY2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DOPEY2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DOPEY2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y3R5

UniProtKB/Swiss-Prot:

DOP2_HUMAN :
  • Belongs to the dopey family.
Family:
  • Belongs to the dopey family.
genes like me logo Genes that share domains with DOPEY2: view

Function for DOPEY2 Gene

Molecular function for DOPEY2 Gene

UniProtKB/Swiss-Prot Function:
May be involved in protein traffic between late Golgi and early endosomes.

Phenotypes From GWAS Catalog for DOPEY2 Gene

Gene Ontology (GO) - Molecular Function for DOPEY2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with DOPEY2: view

Phenotypes for DOPEY2 Gene

genes like me logo Genes that share phenotypes with DOPEY2: view

Animal Models for DOPEY2 Gene

MGI Knock Outs for DOPEY2:

Animal Model Products

CRISPR Products

miRNA for DOPEY2 Gene

miRTarBase miRNAs that target DOPEY2

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DOPEY2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DOPEY2 Gene

Localization for DOPEY2 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 DOPEY2 gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytosol 3
golgi apparatus 3
endosome 3
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DOPEY2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane ISS 16301316
GO:0005768 endosome IBA --
GO:0005802 trans-Golgi network IBA --
GO:0005829 cytosol IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with DOPEY2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DOPEY2 Gene

Pathways & Interactions for DOPEY2 Gene

SuperPathways for DOPEY2 Gene

No Data Available

Interacting Proteins for DOPEY2 Gene

Gene Ontology (GO) - Biological Process for DOPEY2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006895 Golgi to endosome transport ISS 16301316
GO:0007029 endoplasmic reticulum organization ISS 16301316
GO:0007275 multicellular organism development NAS 10950924
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with DOPEY2: view

No data available for Pathways by source and SIGNOR curated interactions for DOPEY2 Gene

Drugs & Compounds for DOPEY2 Gene

No Compound Related Data Available

Transcripts for DOPEY2 Gene

Unigene Clusters for DOPEY2 Gene

Dopey family member 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DOPEY2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for DOPEY2 Gene

No ASD Table

Relevant External Links for DOPEY2 Gene

GeneLoc Exon Structure for
DOPEY2
ECgene alternative splicing isoforms for
DOPEY2

Expression for DOPEY2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DOPEY2 Gene

Protein differential expression in normal tissues from HIPED for DOPEY2 Gene

This gene is overexpressed in Bone (37.3) and Salivary gland (14.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DOPEY2 Gene



NURSA nuclear receptor signaling pathways regulating expression of DOPEY2 Gene:

DOPEY2

SOURCE GeneReport for Unigene cluster for DOPEY2 Gene:

Hs.204575

mRNA Expression by UniProt/SwissProt for DOPEY2 Gene:

Q9Y3R5-DOP2_HUMAN
Tissue specificity: Ubiquitously expressed. Overexpressed in lymphoblasts from Down syndrome patients.

Evidence on tissue expression from TISSUES for DOPEY2 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with DOPEY2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DOPEY2 Gene

Orthologs for DOPEY2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DOPEY2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DOPEY2 33 34
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia DOPEY2 33 34
  • 87.41 (n)
cow
(Bos Taurus)
Mammalia DOPEY2 33 34
  • 83.44 (n)
rat
(Rattus norvegicus)
Mammalia Dopey2 33
  • 83.24 (n)
mouse
(Mus musculus)
Mammalia Dopey2 33 16 34
  • 83.1 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DOPEY2 34
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DOPEY2 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves gga-mir-7452 34
  • 75 (a)
OneToOne
DOPEY2 33
  • 71.57 (n)
lizard
(Anolis carolinensis)
Reptilia DOPEY2 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dopey2 33
  • 68.14 (n)
zebrafish
(Danio rerio)
Actinopterygii dopey2 34
  • 56 (a)
OneToOne
zgc63622 33
fruit fly
(Drosophila melanogaster)
Insecta CG15099 34
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pad-1 34
  • 21 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DOP1 34
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
ManyToMany
-- 34
  • 25 (a)
ManyToMany
Species where no ortholog for DOPEY2 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 DOPEY2 Gene

ENSEMBL:
Gene Tree for DOPEY2 (if available)
TreeFam:
Gene Tree for DOPEY2 (if available)

Paralogs for DOPEY2 Gene

Paralogs for DOPEY2 Gene

(1) SIMAP similar genes for DOPEY2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DOPEY2: view

Variants for DOPEY2 Gene

Sequence variations from dbSNP and Humsavar for DOPEY2 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs1000022122 -- 36,275,568(+) GAGCC(A/G)AGATT intron-variant
rs1000023922 -- 36,259,103(+) TGGGA(C/G/T)TACAG intron-variant
rs1000029466 -- 36,236,394(+) GTTAG(G/T)GGAAT intron-variant
rs1000034884 -- 36,163,259(+) GAATC(A/G)CTTGA intron-variant, upstream-variant-2KB
rs1000050374 -- 36,186,229(+) TTTCT(A/G)ATCTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DOPEY2 Gene

Variant ID Type Subtype PubMed ID
dgv4427n100 CNV gain 25217958
dgv4428n100 CNV gain 25217958
dgv7832n54 CNV gain 21841781
dgv813e214 CNV gain 21293372
esv2456821 CNV deletion 19546169
esv2670565 CNV deletion 23128226
esv2723391 CNV deletion 23290073
esv2751927 CNV gain 17911159
esv2751928 CNV gain 17911159
esv2763686 CNV gain+loss 21179565
esv33578 CNV loss 17666407
esv3575388 CNV gain 25503493
esv3646963 CNV gain 21293372
esv3646964 CNV gain 21293372
esv3646965 CNV loss 21293372
nsv1109434 CNV deletion 24896259
nsv1142328 CNV tandem duplication 24896259
nsv459249 CNV gain 19166990
nsv510797 CNV deletion 20534489
nsv516175 CNV gain 19592680
nsv587464 CNV gain 21841781
nsv587466 CNV gain 21841781
nsv962674 CNV duplication 23825009

Variation tolerance for DOPEY2 Gene

Residual Variation Intolerance Score: 71.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.97; 91.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DOPEY2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DOPEY2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DOPEY2 Gene

Disorders for DOPEY2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DOPEY2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
down syndrome
  • leukemia, megakaryoblastic, with or without down syndrome, somatic
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for DOPEY2

Genetic Association Database (GAD)
DOPEY2
Human Genome Epidemiology (HuGE) Navigator
DOPEY2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DOPEY2
genes like me logo Genes that share disorders with DOPEY2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DOPEY2 Gene

Publications for DOPEY2 Gene

  1. Morphogenesis in Aspergillus nidulans requires Dopey (DopA), a member of a novel family of leucine zipper-like proteins conserved from yeast to humans. (PMID: 10931277) Pascon RC … Miller BL (Molecular microbiology 2000) 2 3 4 60
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  3. Mon2, a relative of large Arf exchange factors, recruits Dop1 to the Golgi apparatus. (PMID: 16301316) Gillingham AK … Munro S (The Journal of biological chemistry 2006) 2 3 60
  4. C21orf5, a human candidate gene for brain abnormalities and mental retardation in Down syndrome. (PMID: 16276086) Rachidi M … Delabar JM (Cytogenetic and genome research 2006) 3 4 60
  5. C21orf5, a new member of Dopey family involved in morphogenesis, could participate in neurological alterations and mental retardation in Down syndrome. (PMID: 16303751) Rachidi M … Delabar JM (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 2 3 60

Products for DOPEY2 Gene

Sources for DOPEY2 Gene

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