Gene Report

Gene: CREB3L2     Link to MethyView
Gene symbol CREB3L2
Alias BBF2H7, CREB3L2, MGC131709, MGC71006
Cytogenetic Location 7q34
Property protein_coding
Description cAMP responsive element-binding protein 3-like protein 2 (BBF2 human homolog on chromosome 7) [BBF2H7]
External Links
   Ensembl ENSG00000182158
   UniGene Hs.490273 Hs.614333
   mRNA NM_194071.2
Cancer Name Soft Tissue Tumors: Low grade fibromyxoid sarcoma
Description From OMIM: "Low-grade fibromyxoid sarcoma (LGFMS) is a variant of fibrosarcoma. In 2 cases of soft tissue sarcoma that fulfilled morphologic criteria for LGFMS, Storlazzi et al. (2003) identified an FUS (137070)/CREB3L2 chimera, caused by a translocation between chromosome bands 7q33-q34 (CREB3L2) and 16p11 (FUS)."
Expresstion pancreatic, mammary, whole, liver, head, vascular, brain, cervix, colon, esophagus, muscle, placenta, pooled, uncharacterized, synovium, cerebellum, ovary, cartilage, bone, stomach, uterus, kidney, pancreas, pituitary, skin, cerebrum, heart, lymphoreticular, peripheral, embryonic, prostate, lung, thyroid, lymph, nervous, testis, genitourinary, eye, adipose, thymus, spleen
Related library Link
Genomic Regions, Transcripts and Proteins
Gene Structure <0...102>, <150...177>, <12315...12531>, <85769...86265>
Ensembl Transcript ENST00000378408
Ensembl Protein ENSP00000367663
Gene Structure <0...5570>, <7431...7647>, <10014...10140>, <10422...10521>, <26373...26441>, <28978...29036>, <30721...30867>, <33271...33455>, <38010...38097>, <40856...41031>, <53169...53385>, <126623...126846>
Ensembl Transcript ENST00000330387
Ensembl Protein ENSP00000329140
Gene Ontology GO:0006355 IEA Generated via Q9UBW7
GO:0046983 IEA Generated via P15408
GO:0005634 IEA Generated via P54259
GO:0003700 IEA Generated via P15408
GO:0043565 IEA Generated via O60869
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DNA methylation and CGIs
Gene MethyCancer Type Annotated cancer gene with experimental methylation data
Link to MethyView
Title Expression of DOL54 is not restricted to myxoid liposarcomas with the FUS-DDIT3 chimera but is found in various sarcomas.
Authors Panagopoulos I, Mertens F, Isaksson M, Mandahl N.
Citations Oncol Rep. 2004; 12: 107-110.
PubMedID 15201968
Title The chimeric FUS/CREB3L2 gene is specific for low-grade fibromyxoid sarcoma.
Authors Panagopoulos I, Storlazzi CT, Fletcher CDM, Fletcher JA, Nascimento A, Domanski HA, Wejde J, Brosj?O, Rydholm A, Isaksson M, Mandahl N, Mertens F.
Citations Genes Chromosomes Cancer 2004; 40: 218-228.
PubMedID 15139001
Title Influence of new molecular prognostic markers in patients with karyotypically normal acute myeloid leukemia: recent advances.
Citations Curr Opin Hematol. 2007 Mar;14(2):106-14
PubMedID 17255787
Title Hyalinizing spindle cell tumor with giant rosettes - A soft tissue tumor with mesenchymal and neuroendocrine features.
Authors Bejarano PA, Padhya TA, Smith R, Blough R, Devitt JJ, Gluckman JL.
Citations Arch Pathol Lab Med 2000; 124: 1179-1184.
PubMedID 10923080
Title Low-grade fibromyxoid sarcoma and hyalinizing spindle cell tumor with giant rosettes share a common t(7;16)(q34;p11) translocation.
Authors Reid R, de Silva MV, Paterson L, Ryan E, Fisher C.
Citations Am J Surg Pathol 2003; 27: 1229-1236.
PubMedID 12960807
Title Fusion of the FUS and BBF2H7 genes in low grade fibromyxoid sarcoma.
Authors Storlazzi CT, Mertens F, Nascimento A, Isaksson M, Wejde J, Brosj?O, Mandahl N, Panagopoulos I.
Citations Hum Mol Genet 2003; 12: 2349-2358.
PubMedID 12915480