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

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Gene Gene information from NCBI Gene database.
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Entrez ID 420
Gene name ADP-ribosyltransferase 4 (inactive) (Dombrock blood group)
Gene symbol ART4
Synonyms (NCBI Gene)
ARTC4CD297DODO/ART4DOK1
Chromosome 12
Chromosome location 12p12.3
Summary 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 locate
SNPs SNP information provided by dbSNP.
5
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SNP ID Visualize variation Clinical significance Consequence
rs11276 C>T Affects Coding sequence variant, missense variant
rs56340844 G>A,C Affects Missense variant, stop gained, coding sequence variant
rs587777831 T>C Affects Splice acceptor variant
rs587777832 AGTCATGT>- Affects Coding sequence variant, frameshift variant
rs587777833 A>G Affects Splice donor variant
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT719931 hsa-miR-5692a HITS-CLIP 19536157
MIRT719929 hsa-miR-188-5p HITS-CLIP 19536157
MIRT719930 hsa-miR-6866-3p HITS-CLIP 19536157
MIRT719928 hsa-miR-125b-1-3p HITS-CLIP 19536157
MIRT621374 hsa-miR-483-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0003950 Function NAD+ poly-ADP-ribosyltransferase activity IBA
GO:0005576 Component Extracellular region TAS
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
GO:0006525 Process Arginine metabolic process NAS 11001920
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
110600 726 ENSG00000111339
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q93070
Protein name Ecto-ADP-ribosyltransferase 4 (EC 2.4.2.31) (ADP-ribosyltransferase C2 and C3 toxin-like 4) (ARTC4) (Dombrock blood group carrier molecule) (Mono(ADP-ribosyl)transferase 4) (NAD(P)(+)--arginine ADP-ribosyltransferase 4) (CD antigen CD297)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01129 ART 55 → 277 NAD:arginine ADP-ribosyltransferase Family
Tissue specificity TISSUE SPECIFICITY: Expressed in spleen and T-cells.
Sequence 
MGPLINRCKKILLPTTVPPATMRIWLLGGLLPFLLLLSGLQRPTEGSEVAIKIDFDFAPG
SFDDQYQGCSKQVMEKLTQGDYFTKDIEAQKNYFRMWQKAHLAWLNQGKVLPQNMTTTHA
VAILFYTLNSNVHSDFTRAMASVARTPQQYERSFHFKYLHYYLTSAIQLLRKDSIMENGT
LCYEVHYRTKDVHFNAYTGATIRFGQFLSTSLLKEEAQEFGNQTLFTIFTCLGAPVQYFS
LKKEVLIPPYELFKVINMSYHPRGNWLQLRSTGNLSTYNCQLLKASSKKCIPDPIAIASL
SFLTSVIIFSKSRV
Sequence length 314
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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Reactome Pathway
Post-translational modification: synthesis of GPI-anchored proteins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
ART4-related disorder Benign; Affects ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Blood group, Dombrock system Affects; Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carotid Artery Thrombosis Carotid Artery Thrombosis BEFREE 26790499
★★★★★
★☆☆☆☆
Found in Text Mining only
Osteopenia Osteopenia BEFREE 29548825
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for ART4.

No additional diseases found yet through genes similar to ART4.