Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol CREB3L2 contributors: mct - updated : 31-01-2018
HGNC name cAMP responsive element binding protein 3-like 2
HGNC id 23720
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral fusion      
with FUS in t(7;16) (q33;p11 in fibromyxoid sarcoma, low-grade
tumoral fusion translocation    
CREB3L2-PPAR gamma fusion mutation with a t(3;7)(p25;q34) in thyroid carcinoma, inhibiting transcription of EVX1 and thyroglobulin (Lui 2008)
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • Bbf2h7(-/-) mice showed severe chondrodysplasia and died by suffocation shortly after birth because of an immature chest cavity (Saito 2009)
  • Bbf2h7-deficient mice exhibit severe chondrodysplasia, with expansion of the rough ER in proliferating chondrocytes caused by impaired secretion of extracellular matrix (ECM) proteins