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Aliases for ART4 Gene

Aliases for ART4 Gene

  • ADP-Ribosyltransferase 4 (Dombrock Blood Group) 2 3 5
  • NAD(+)--Protein-Arginine ADP-Ribosyltransferase 4 2 3
  • ADP-Ribosyltransferase C2 And C3 Toxin-Like 4 3 4
  • NAD(P)(+)--Arginine ADP-Ribosyltransferase 4 3 4
  • ADP-Ribosyltransferase 4 (DO Blood Group) 2 3
  • Dombrock Blood Group Carrier Molecule 3 4
  • ARTC4 3 4
  • DOK1 3 4
  • DO 3 4
  • Mono(ADP-Ribosyl)Transferase 4 4
  • Ecto-ADP-Ribosyltransferase 4 3
  • Mono-ADP-Ribosyltransferase 4 3
  • ADP-Ribosyltransferase 4 2
  • Dombrock Blood Group 2
  • CD297 Antigen 4
  • EC 4
  • CD297 3

External Ids for ART4 Gene

Previous HGNC Symbols for ART4 Gene

  • DO

Previous GeneCards Identifiers for ART4 Gene

  • GC12M014874
  • GC12M014982
  • GC12M014751

Summaries for ART4 Gene

Entrez Gene Summary for ART4 Gene

  • This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally. Antigens of the Dombrock blood group system are located on the gene product, which is glycosylphosphatidylinosotol-anchored to the erythrocyte membrane. Allelic variants, some of which lead to adverse transfusion reactions, are known. [provided by RefSeq, Jul 2008]

GeneCards Summary for ART4 Gene

ART4 (ADP-Ribosyltransferase 4 (Dombrock Blood Group)) is a Protein Coding gene. Diseases associated with ART4 include Blood Group, Dombrock System and Arts Syndrome. Among its related pathways are Metabolism of proteins and Post-translational modification- synthesis of GPI-anchored proteins. Gene Ontology (GO) annotations related to this gene include NAD(P)+-protein-arginine ADP-ribosyltransferase activity. An important paralog of this gene is ART1.

Gene Wiki entry for ART4 Gene

Additional gene information for ART4 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ART4 Gene

Genomics for ART4 Gene

GeneHancer (GH) Regulatory Elements for ART4 Gene

Promoters and enhancers for ART4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J014840 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE 653.7 +1.1 1114 3.6 PKNOX1 FOXA2 MLX ARID4B YY1 TCF12 ZNF766 GATA2 NFKBIZ RXRA ENSG00000256339 ART4 GC12M014844 GC12M014843 ERP27 H2AFJ SMCO3 C12orf60
GH12J014845 Enhancer 0.9 Ensembl ENCODE 650.7 -2.0 -1968 0.6 CTCF ARNT YBX1 ZNF2 RAD21 ZNF366 SMC3 ZNF143 ZNF444 IKZF2 ART4 ATF7IP H2AFJ ENSG00000261324 HIST4H4 GC12M014862 C12orf60
GH12J014945 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.3 -111.8 -111781 19.1 HDGF PKNOX1 ATF1 FOXA2 SMAD1 YBX1 IRF4 YY1 ZNF766 GATA2 ARHGDIB ERP27 PDE6H WBP11 ART4 HIST4H4 H2AFJ SMCO3 C12orf60 ENSG00000256339
GH12J014883 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 11.5 -41.4 -41438 3.2 PKNOX1 SMAD1 NFIB EBF1 CTBP1 GATA3 POLR2A ATF7 RCOR1 IKZF2 MGP ENSG00000256339 ERP27 PDE6H ART4 SMCO3 ARHGDIB H2AFJ HIST4H4 WBP11
GH12J014980 Enhancer 1 Ensembl ENCODE dbSUPER 11.2 -139.0 -138953 3.4 MAX REST RELA GABPA BCL11A POLR2A IKZF1 MYC RUNX3 IKZF2 ART4 ENSG00000256339 ERP27 WBP11 C12orf60 HIST4H4 H2AFJ SMCO3 ARHGDIB PDE6H
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ART4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ART4 gene promoter:
  • NF-kappaB1
  • NF-kappaB
  • Nkx3-1 v4
  • Nkx3-1 v3
  • Nkx3-1 v2
  • Nkx3-1 v1
  • Nkx3-1
  • C/EBPbeta
  • CUTL1
  • SEF-1 (1)

Genomic Locations for ART4 Gene

Genomic Locations for ART4 Gene
17,965 bases
Minus strand
17,927 bases
Minus strand

Genomic View for ART4 Gene

Genes around ART4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ART4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ART4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ART4 Gene

Proteins for ART4 Gene

  • Protein details for ART4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ecto-ADP-ribosyltransferase 4
    Protein Accession:
    Secondary Accessions:
    • Q9BZ50
    • Q9BZ51
    • Q9HB06

    Protein attributes for ART4 Gene

    314 amino acids
    Molecular mass:
    35878 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ART4 Gene

Post-translational modifications for ART4 Gene

  • Glycosylation at Asn274, posLast=257257, posLast=222222, posLast=178178, and Asn114
  • Modification sites at PhosphoSitePlus

Other Protein References for ART4 Gene

No data available for DME Specific Peptides for ART4 Gene

Domains & Families for ART4 Gene

Gene Families for ART4 Gene

Human Protein Atlas (HPA):
  • Blood group antigen proteins
  • CD markers
  • Enzymes
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for ART4 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the Arg-specific ADP-ribosyltransferase family.
  • Belongs to the Arg-specific ADP-ribosyltransferase family.
genes like me logo Genes that share domains with ART4: view

Function for ART4 Gene

Molecular function for ART4 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
NAD(+) + protein-L-arginine = nicotinamide + N(omega)-(ADP-D-ribosyl)-protein-L-arginine.
GENATLAS Biochemistry:
ADP-ribosyltransferase 4,expressed in testis

Enzyme Numbers (IUBMB) for ART4 Gene

Gene Ontology (GO) - Molecular Function for ART4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003956 NAD(P)+-protein-arginine ADP-ribosyltransferase activity NAS 9119374
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with ART4: view
genes like me logo Genes that share phenotypes with ART4: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ART4

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ART4 Gene

Localization for ART4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ART4 Gene

Cell membrane; Lipid-anchor, GPI-anchor.

Subcellular locations from

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 ART4 gene
Compartment Confidence
plasma membrane 5
extracellular 5
golgi apparatus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ART4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane NAS 9119374
GO:0031225 anchored component of membrane IEA --
genes like me logo Genes that share ontologies with ART4: view

Pathways & Interactions for ART4 Gene

genes like me logo Genes that share pathways with ART4: view

Pathways by source for ART4 Gene

Interacting Proteins for ART4 Gene

Gene Ontology (GO) - Biological Process for ART4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006471 protein ADP-ribosylation NAS,IEA 9119374
GO:0006501 C-terminal protein lipidation TAS --
GO:0006525 arginine metabolic process NAS 11001920
genes like me logo Genes that share ontologies with ART4: view

No data available for SIGNOR curated interactions for ART4 Gene

Drugs & Compounds for ART4 Gene

(4) Drugs for ART4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Arginine Approved Nutra Full agonist, Agonist 0
NADH Approved Nutra 0
Nicotinamide Approved, Investigational Nutra 942,946
NAD Pharma Full agonist, Agonist, Activator 0

(1) Additional Compounds for ART4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • beta-Nicotinamide adenine dinucleotide phosphate
  • NADP+
  • Nicotinamide adenine dinucleotide phosphate
  • Oxidized nicotinamide-adenine dinucleotide phosphate
  • TPN
genes like me logo Genes that share compounds with ART4: view

Transcripts for ART4 Gene

mRNA/cDNA for ART4 Gene

(2) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(19) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ART4 Gene

ADP-ribosyltransferase 4 (Dombrock blood group):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ART4

Alternative Splicing Database (ASD) splice patterns (SP) for ART4 Gene

No ASD Table

Relevant External Links for ART4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ART4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ART4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ART4 Gene

This gene is overexpressed in Liver (x8.6), Heart - Atrial Appendage (x6.8), Artery - Coronary (x6.0), Artery - Aorta (x5.6), and Spleen (x4.4).

Protein differential expression in normal tissues from HIPED for ART4 Gene

This gene is overexpressed in Pancreas (62.8) and Placenta (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ART4 Gene

Protein tissue co-expression partners for ART4 Gene

NURSA nuclear receptor signaling pathways regulating expression of ART4 Gene:


SOURCE GeneReport for Unigene cluster for ART4 Gene:


mRNA Expression by UniProt/SwissProt for ART4 Gene:

Tissue specificity: Expressed in spleen and T-cells.

Evidence on tissue expression from TISSUES for ART4 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with ART4: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ART4 Gene

Orthologs for ART4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ART4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ART4 34 33
  • 99.68 (n)
(Canis familiaris)
Mammalia ART4 34 33
  • 79.38 (n)
(Bos Taurus)
Mammalia ART4 34 33
  • 77.7 (n)
(Rattus norvegicus)
Mammalia Art4 33
  • 73.9 (n)
(Mus musculus)
Mammalia Art4 16 34 33
  • 73.77 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 32 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 25 (a)
(Gallus gallus)
Aves ART4 34 33
  • 58.48 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 30 (a)
(Danio rerio)
Actinopterygii LOC100537553 33
  • 47.66 (n)
CABZ01019905.1 34
  • 38 (a)
CABZ01019905.2 34
  • 35 (a)
CR846080.5 34
  • 35 (a)
si:ch211-51i16.3 34
  • 33 (a)
CR846080.3 34
  • 33 (a)
si:ch211-51i16.1 34
  • 31 (a)
BX908804.1 34
  • 30 (a)
art4 34
  • 29 (a)
si:ch73-379f5.5 34
  • 29 (a)
CR846080.4 34
  • 28 (a)
CABZ01064699.1 34
  • 26 (a)
si:ch211-163m16.7 34
  • 26 (a)
CABZ01019904.1 34
  • 25 (a)
Species where no ortholog for ART4 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ART4 Gene

Gene Tree for ART4 (if available)
Gene Tree for ART4 (if available)
Evolutionary constrained regions (ECRs) for ART4: view image

Paralogs for ART4 Gene

Paralogs for ART4 Gene

(3) SIMAP similar genes for ART4 Gene using alignment to 5 proteins:

  • A1Z625_HUMAN
  • C3W8I0_HUMAN
  • C3W8I1_HUMAN
  • H7C2G2_HUMAN
genes like me logo Genes that share paralogs with ART4: view

Variants for ART4 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ART4 Gene

DO is responsible for the Dombrock blood group system [MIM:616060]. The molecular basis of the Do(a)/Do(b) blood group antigen is a single variation in position 265; Asn-265 corresponds to Do(a) and Asp-265 to Do(b). It is also responsible for the antigens Gregory [Gy(a)], Holley [Hy] and Joseph [Jo(a)].

Sequence variations from dbSNP and Humsavar for ART4 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs11276 affects, Blood group, Dombrock system 14,840,505(-) C/T coding_sequence_variant, missense_variant
rs56340844 affects, Blood group, Dombrock system 14,840,856(-) G/A/C coding_sequence_variant, missense_variant, stop_gained
rs587777831 affects, Blood group, Dombrock system 14,841,155(-) T/C splice_acceptor_variant
rs587777832 affects, Blood group, Dombrock system 14,840,948(-) GTAGTCATGT/GT coding_sequence_variant, frameshift
rs587777833 affects, Blood group, Dombrock system 14,842,968(-) A/G splice_donor_variant

Structural Variations from Database of Genomic Variants (DGV) for ART4 Gene

Variant ID Type Subtype PubMed ID
esv3302544 CNV tandem duplication 20981092
esv3437825 CNV duplication 20981092

Variation tolerance for ART4 Gene

Residual Variation Intolerance Score: 87.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.68; 82.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ART4 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

Disorders for ART4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ART4 Gene - From: HGMD, OMIM, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
blood group, dombrock system
  • do
arts syndrome
  • arts
- elite association - COSMIC cancer census association via MalaCards
Search ART4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ART4

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ART4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ART4 Gene

Publications for ART4 Gene

  1. Two novel human members of an emerging mammalian gene family related to mono-ADP-ribosylating bacterial toxins. (PMID: 9119374) Koch-Nolte F … Thiele HG (Genomics 1997) 2 3 4 58
  2. Introduction of a real-time-based blood-group genotyping approach. (PMID: 18510579) Polin H … Gabriel C (Vox sanguinis 2008) 3 44 58
  3. Analysis of the 3' UTR of the ART3 and ART4 gene by 3' inverse RACE-PCR. (PMID: 16040347) Friedrich M … Hauschildt S (DNA sequence : the journal of DNA sequencing and mapping 2005) 3 22 58
  4. Analysis of mono-ADP-ribosyltransferase 4 gene expression in human monocytes: splicing pattern and potential regulatory elements. (PMID: 16140404) Grahnert A … Hauschildt S (Biochimica et biophysica acta 2005) 3 22 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for ART4 Gene

Sources for ART4 Gene

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