ATF6B

Chr 6

activating transcription factor 6 beta

Also known as: ATF6beta, CREB-RP, CREBL1, G13

The protein encoded by this gene is a transcription factor in the unfolded protein response (UPR) pathway during ER stress. Either as a homodimer or as a heterodimer with ATF6-alpha, the encoded protein binds to the ER stress response element, interacting with nuclear transcription factor Y to activate UPR target genes. The protein is normally found in the membrane of the endoplasmic reticulum; however, under ER stress, the N-terminal cytoplasmic domain is cleaved from the rest of the protein and translocates to the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

ResearchGenerating clinical summary…
0
Active trials
10
Pubs (1 yr)
P/LP submissions
P/LP missense
0.70
LOEUF
DN
Mechanism· predicted
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?
0.70LOEUF
pLI 0.000
Z-score 2.98
OE 0.47 (0.320.70)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.53Z-score
OE missense 0.78 (0.710.86)
315 obs / 401.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.47 (0.320.70)
00.351.4
Missense OE?0.78 (0.710.86)
00.61.4
Synonymous OE?0.87
01.21.6
LoF obs/exp: 17 / 36.4Missense obs/exp: 315 / 401.5Syn Z: 1.32

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ATF6B · 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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