DOP1B (DOP1 leucine zipper like protein B)

2018-11-01  

Identity

HGNC
LOCATION
21q22.12
LOCUSID
ALIAS
21orf5,C21orf5,DOPEY2

Other Information

Locus ID:

NCBI: 9980
MIM: 604803
HGNC: 1291
Ensembl: ENSG00000142197

Variants:

dbSNP: 9980
ClinVar: 9980
TCGA: ENSG00000142197
COSMIC: DOP1B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000142197ENST00000270190F8W8U9
ENSG00000142197ENST00000399151Q9Y3R5

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443560Breast NeoplasmsDiseaseVariantAnnotationnot associatedPD29938344
PA449165cyclophosphamideChemicalVariantAnnotationnot associatedPD29938344
PA449412doxorubicinChemicalVariantAnnotationnot associatedPD29938344

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
163037512005C21orf5, a new member of Dopey family involved in morphogenesis, could participate in neurological alterations and mental retardation in Down syndrome.6
194606342009A quantitative assessment of gene expression (QAGE) reveals differential overexpression of DOPEY2, a candidate gene for mental retardation, in Down syndrome brain regions.6
302139402018SNX3-retromer requires an evolutionary conserved MON2:DOPEY2:ATP9A complex to mediate Wntless sorting and Wnt secretion.4
162760862006C21orf5, a human candidate gene for brain abnormalities and mental retardation in Down syndrome.3
127679182003The differentially expressed C21orf5 gene in the medial temporal-lobe system could play a role in mental retardation in Down syndrome and transgenic mice.2

Citation

Dessen P

DOP1B (DOP1 leucine zipper like protein B)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/80507/dop1b-(dop1-leucine-zipper-like-protein-b)