CREBL2

Chr 12

cAMP responsive element binding protein like 2

NCBI Gene: 1389 ENSG00000111269 UniProt: O60519 OMIM: 603476

CREBL2 encodes a transcriptional regulator that contains a DNA-binding domain and regulates CREB1 activity involved in adipocyte differentiation and cell cycle control. The gene shows moderate constraint against loss-of-function variants (pLI 0.72, LOEUF 0.56) and is located in a chromosomal region frequently deleted in cancers, suggesting tumor suppressor function. Current evidence does not establish clear Mendelian disease associations or inheritance patterns for CREBL2 mutations in pediatric neurological disorders.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.56

LOEUF

LOF

Mechanism· predicted