DOP1B (DOP1 leucine zipper like protein B)

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DOP1B (DOP1 leucine zipper like protein B)

2018-11-01 Affiliation

Identity

HGNC

LOCATION

21q22.12

LOCUSID

ALIAS

21orf5,C21orf5,DOPEY2

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000142197	ENST00000270190	F8W8U9
ENSG00000142197	ENST00000399151	Q9Y3R5

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA443560	Breast Neoplasms	Disease	VariantAnnotation	not associated		PD	29938344
PA449165	cyclophosphamide	Chemical	VariantAnnotation	not associated		PD	29938344
PA449412	doxorubicin	Chemical	VariantAnnotation	not associated		PD	29938344

References

Pubmed ID	Year	Title	Citations
33273802	2020	A mutation in DOP1B identified as a probable cause for autosomal recessive Peters anomaly in a consanguineous family.	0
33273802	2020	A mutation in DOP1B identified as a probable cause for autosomal recessive Peters anomaly in a consanguineous family.	0
30213940	2018	SNX3-retromer requires an evolutionary conserved MON2:DOPEY2:ATP9A complex to mediate Wntless sorting and Wnt secretion.	37
30213940	2018	SNX3-retromer requires an evolutionary conserved MON2:DOPEY2:ATP9A complex to mediate Wntless sorting and Wnt secretion.	37
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
19460634	2009	A quantitative assessment of gene expression (QAGE) reveals differential overexpression of DOPEY2, a candidate gene for mental retardation, in Down syndrome brain regions.	14
19460634	2009	A quantitative assessment of gene expression (QAGE) reveals differential overexpression of DOPEY2, a candidate gene for mental retardation, in Down syndrome brain regions.	14
16276086	2006	C21orf5, a human candidate gene for brain abnormalities and mental retardation in Down syndrome.	6
16276086	2006	C21orf5, a human candidate gene for brain abnormalities and mental retardation in Down syndrome.	6
16303751	2005	C21orf5, a new member of Dopey family involved in morphogenesis, could participate in neurological alterations and mental retardation in Down syndrome.	8
16303751	2005	C21orf5, a new member of Dopey family involved in morphogenesis, could participate in neurological alterations and mental retardation in Down syndrome.	8
12767918	2003	The differentially expressed C21orf5 gene in the medial temporal-lobe system could play a role in mental retardation in Down syndrome and transgenic mice.	5
12767918	2003	The differentially expressed C21orf5 gene in the medial temporal-lobe system could play a role in mental retardation in Down syndrome and transgenic mice.	5

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/case-report-explorer/meetings/js/_common.js