CREB3L4

Chr 1

cAMP responsive element binding protein 3 like 4

Also known as: AIBZIP, ATCE1, CREB3, CREB4, JAL, hJAL

This gene encodes a CREB (cAMP responsive element binding) protein with a transmembrane domain which localizes it to the ER membrane. The encoded protein is a transcriptional activator which contains a dimerization domain, and this protein may function in a number of processing pathways including protein processing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

OMIMResearchGenerating clinical summary…
0
Active trials
12
Pubs (1 yr)
P/LP submissions
P/LP missense
1.02
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.02LOEUF
pLI 0.000
Z-score 1.50
OE 0.62 (0.391.02)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.01Z-score
OE missense 1.00 (0.891.12)
221 obs / 221.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.62 (0.391.02)
00.351.4
Missense OE?1.00 (0.891.12)
00.61.4
Synonymous OE?0.83
01.21.6
LoF obs/exp: 11 / 17.9Missense obs/exp: 221 / 221.2Syn Z: 1.26

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CREB3L4 · 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.

Search ClinicalTrials.gov →