CREBL2

Chr 12

cAMP responsive element binding protein like 2

cAMP response element (CRE)-binding protein-like-2 (CREBL2) was identified in a search to find genes in a commonly deleted region on chromosome 12p13 flanked by ETV6 and CDKN1B genes, frequently associated with hematopoietic malignancies, as well as breast, non-small-cell lung and ovarian cancers. CREBL2 shares a 41% identity with CRE-binding protein (CREB) over a 48-base long region which encodes the bZip domain of CREB. The bZip domain consists of about 30 amino acids rich in basic residues involved in DNA binding, followed by a leucine zipper motif involved in protein dimerization. This suggests that CREBL2 encodes a protein with DNA binding capabilities. The occurance of CREBL2 deletion in malignancy suggests that CREBL2 may act as a tumor suppressor gene. [provided by RefSeq, Jul 2008]

0
Active trials
1
Pubs (1 yr)
0
P/LP submissions
P/LP missense
0.56
LOEUF
LOF
Mechanism· predicted
Clinical SummaryCREBL2
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.72) — some intolerance to loss-of-function variants.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.56LOEUF
pLI 0.722
Z-score 2.39
OE 0.12 (0.040.56)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.50Z-score
OE missense 0.48 (0.360.65)
32 obs / 66.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.12 (0.040.56)
00.351.4
Missense OE0.48 (0.360.65)
00.61.4
Synonymous OE0.77
01.21.6
LoF obs/exp: 1 / 8.5Missense obs/exp: 32 / 66.3Syn Z: 0.82
DN
0.4587th %ile
GOF
0.2795th %ile
LOF
0.71top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CREBL2 · 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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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC