CREB3L2

Chr 7

cAMP responsive element binding protein 3 like 2

Also known as: BBF2H7

NCBI Gene: 64764ENSG00000182158UniProt: Q70SY1

This gene encodes a member of the oasis bZIP transcription factor family. Members of this family can dimerize but form homodimers only. The encoded protein is a transcriptional activator. Translocations between this gene on chromosome 7 and the gene fused in sarcoma on chromosome 16 can be found in some tumors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

120
ClinVar variants
43
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— CREB3L2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
43 Pathogenic / Likely Pathogenic· 75 VUS of 120 total submissions
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.66LOEUF
pLI 0.002
Z-score 2.83
OE 0.38 (0.23–0.66)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.03Z-score
OE missense 0.99 (0.90–1.10)
260 obs / 261.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.38 (0.23–0.66)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.99 (0.90–1.10)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.95
0≤1.21.6
LoF obs/exp: 9 / 23.9Missense obs/exp: 260 / 261.4Syn Z: 0.40

ClinVar Variant Classifications

120 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic42
Likely Pathogenic1
VUS75
Likely Benign2
42
Pathogenic
1
Likely Pathogenic
75
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
42
0
42
Likely Pathogenic
0
0
1
0
1
VUS
0
63
12
0
75
Likely Benign
0
2
0
0
2
Benign
0
0
0
0
0
Total065550120

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CREB3L2 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Clinical and molecular characterization of primary sclerosing epithelioid fibrosarcoma of bone and review of the literature.
Tsuda Y et al.·Genes Chromosomes Cancer
2020Review
Characterization of the human CREB3L2 gene promoter.
Panagopoulos I et al.·Oncol Rep
2009
CREB3L2-ATF4 heterodimerization defines a transcriptional hub of Alzheimer's disease gene expression linked to neuropathology.
Gouveia Roque C et al.·Sci Adv
2023
Low-grade fibromyxoid sarcoma: Clinical, morphologic and genetic features.
Mohamed M et al.·Ann Diagn Pathol
2017
The chimeric FUS/CREB3l2 gene is specific for low-grade fibromyxoid sarcoma.
Panagopoulos I et al.·Genes Chromosomes Cancer
2004
The clinical significance of the FUS-CREB3L2 translocation in low-grade fibromyxoid sarcoma.
Rose B et al.·J Orthop Surg Res
2011
Low-grade fibromyxoid sarcoma: a brief review.
Vernon SE et al.·Arch Pathol Lab Med
2006Review
Molecular detection of FUS-CREB3L2 fusion transcripts in low-grade fibromyxoid sarcoma using formalin-fixed, paraffin-embedded tissue specimens.
Matsuyama A et al.·Am J Surg Pathol
2006
Non-invasive Follicular Thyroid Neoplasm with Papillary-like Nuclear Features and CREB3L2::PPARγ Fusion.
Dennis CJ et al.·Head Neck Pathol
2025Case report
Characterization of an alternative transcript of the human CREB3L2 gene.
Panagopoulos I et al.·Oncol Rep
2010
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools