ART4 (ADP-ribosyltransferase 4 (inactive) (Dombrock blood group))

2014-11-01  

Identity

HGNC
LOCATION
12p12.3
LOCUSID
ALIAS
ARTC4,CD297,DO,DO/ART4,DOK1
FUSION GENES

Other Information

Locus ID:

NCBI: 420
MIM: 110600
HGNC: 726
Ensembl: ENSG00000111339

Variants:

dbSNP: 420
ClinVar: 420
TCGA: ENSG00000111339
COSMIC: ART4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000111339ENST00000228936Q93070
ENSG00000111339ENST00000420600H7C2G2
ENSG00000111339ENST00000430129Q3KZ30
ENSG00000111339ENST00000544616Q3KZ29

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Post-translational modification: synthesis of GPI-anchored proteinsREACTOMER-HSA-163125

References

Pubmed IDYearTitleCitations
158476542005A flexible array format for large-scale, rapid blood group DNA typing.30
204310332010Single PCR multiplex SNaPshot reaction for detection of eleven blood group nucleotide polymorphisms: optimization, validation, and one year of routine clinical use.12
185105792008Introduction of a real-time-based blood-group genotyping approach.5
209320782010The Dombrock blood group system: a review.4
194137342009Dombrock genotyping in a native Congolese cohort reveals two novel alleles.3
161404042005Analysis of mono-ADP-ribosyltransferase 4 gene expression in human monocytes: splicing pattern and potential regulatory elements.2
234215412012The production, serologic evaluation, and epitope mapping of ten murine monoclonal Dombrock antibodies.0
259884282015Sequencing of the ART4 gene in sub-Saharan cohorts reveals ethnic differences and two new DO alleles: DO*B-Ile5Thr and DO*B-Trp266Arg.0

Citation

Dessen P

ART4 (ADP-ribosyltransferase 4 (inactive) (Dombrock blood group))

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60541/art4