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

2014-11-01  

Identity

HGNC
ART4
LOCATION
12p12.3
LOCUSID
420
ALIAS
ARTC4,CD297,DO,DO/ART4,DOK1
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
332064052021A novel variant DO*A allele with a c.370delT mutation leading to a DO-null phenotype in a Syrian family.0
346551922021Development of DO*A and DO*B Allele Detections to Predict Transfusion-Induced Alloimmunization Risks in Thai Populations.2
332064052021A novel variant DO*A allele with a c.370delT mutation leading to a DO-null phenotype in a Syrian family.0
346551922021Development of DO*A and DO*B Allele Detections to Predict Transfusion-Induced Alloimmunization Risks in Thai Populations.2
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
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
234215412012The production, serologic evaluation, and epitope mapping of ten murine monoclonal Dombrock antibodies.0
234215412012The production, serologic evaluation, and epitope mapping of ten murine monoclonal Dombrock antibodies.0
204310332010Single PCR multiplex SNaPshot reaction for detection of eleven blood group nucleotide polymorphisms: optimization, validation, and one year of routine clinical use.15
209320782010The Dombrock blood group system: a review.6
204310332010Single PCR multiplex SNaPshot reaction for detection of eleven blood group nucleotide polymorphisms: optimization, validation, and one year of routine clinical use.15
209320782010The Dombrock blood group system: a review.6
194137342009Dombrock genotyping in a native Congolese cohort reveals two novel alleles.3
194137342009Dombrock genotyping in a native Congolese cohort reveals two novel alleles.3
185105792008Introduction of a real-time-based blood-group genotyping approach.6

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