ART4

Chr 12

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

Also known as: ARTC4, CD297, DO, DO/ART4, DOK1

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]

GeneReviewsResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
P/LP submissions
P/LP missense
1.07
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — ART4
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.07LOEUF
pLI 0.002
Z-score 1.41
OE 0.54 (0.301.07)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.14Z-score
OE missense 1.03 (0.911.17)
168 obs / 162.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.54 (0.301.07)
00.351.4
Missense OE?1.03 (0.911.17)
00.61.4
Synonymous OE?1.11
01.21.6
LoF obs/exp: 6 / 11.0Missense obs/exp: 168 / 162.8Syn Z: -0.68

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ART4 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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