CREBL2 Chromosome 12

CAMP responsive element binding protein like 2
1 variant 1 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
Basic leucine zipper proteins
Locus Type
gene with protein product
Location
12p13.1
Ensembl
ENSG00000111269
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS2498317032 Health Risk Likely pathogenic
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