Symbol
| CREB3L2
| contributors: mct - updated : 31-01-2018
|
HGNC name
| cAMP responsive element binding protein 3-like 2
|
HGNC id
| 23720
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
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tumoral
| fusion
|  
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with FUS in t(7;16) (q33;p11 in fibromyxoid sarcoma, low-grade | tumoral
| fusion
| translocation
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|  
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CREB3L2-PPAR gamma fusion mutation with a t(3;7)(p25;q34) in thyroid carcinoma, inhibiting transcription of EVX1 and thyroglobulin (Lui 2008) | |
Variant & Polymorphism
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Candidate gene
Marker
Therapy target
| | | |
| 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 |