CREB3L1 Chromosome 11
CAMP responsive element binding protein 3 like 1
Upload your DNA to see your personal genotypes for variants in CREB3L1.
What This Gene Does
The protein encoded by this gene is normally found in the membrane of the endoplasmic reticulum (ER). However, upon stress to the ER, the encoded protein is cleaved and the released cytoplasmic transcription factor domain translocates to the nucleus. There it activates the transcription of target genes by binding to box-B elements. [provided by RefSeq, Jun 2013]
Gene Info
Gene Group
CREB3 transcription factor family
Locus Type
gene with protein product
Location
11p11.2
Ensembl
ENSG00000157613
Associated Conditions (4)
Osteogenesis imperfecta type 16
CREB3L1-related disorder
Inborn genetic diseases
Osteogenesis imperfecta
Key Variants
RS187725533
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 16, CREB3L1-related disorder, Osteogenesis imperfecta type 16
Health Risk
RS192656420
Conflicting classifications of pathogenicity
CREB3L1-related disorder, Inborn genetic diseases, CREB3L1-related disorder
Health Risk
RS376419401
Conflicting classifications of pathogenicity
Health Risk
RS559259997
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS766438770
Conflicting classifications of pathogenicity
Inborn genetic diseases, Osteogenesis imperfecta type 16, Inborn genetic diseases
Health Risk
RS1939498274
Likely pathogenic
Osteogenesis imperfecta type 16, Osteogenesis imperfecta type 16
Health Risk
RS2136354346
Likely pathogenic
Health Risk
RS1361730422
Pathogenic
Health Risk
RS1555222973
Pathogenic
Osteogenesis imperfecta type 16, Osteogenesis imperfecta, Osteogenesis imperfecta type 16
Health Risk
RS1939508698
Pathogenic
Osteogenesis imperfecta type 16, Osteogenesis imperfecta type 16
Health Risk
RS2496169948
Pathogenic
Health Risk
RS747678376
Pathogenic
Osteogenesis imperfecta type 16, Osteogenesis imperfecta type 16
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS187725533 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 16, CREB3L1-related disorder, Osteogenesis imperfecta type 16 |
| RS192656420 | Health Risk | Conflicting classifications of pathogenicity | CREB3L1-related disorder, Inborn genetic diseases, CREB3L1-related disorder |
| RS376419401 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS559259997 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS766438770 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Osteogenesis imperfecta type 16, Inborn genetic diseases |
| RS1939498274 | Health Risk | Likely pathogenic | Osteogenesis imperfecta type 16, Osteogenesis imperfecta type 16 |
| RS2136354346 | Health Risk | Likely pathogenic | — |
| RS1361730422 | Health Risk | Pathogenic | — |
| RS1555222973 | Health Risk | Pathogenic | Osteogenesis imperfecta type 16, Osteogenesis imperfecta, Osteogenesis imperfecta type 16 |
| RS1939508698 | Health Risk | Pathogenic | Osteogenesis imperfecta type 16, Osteogenesis imperfecta type 16 |
| RS2496169948 | Health Risk | Pathogenic | — |
| RS747678376 | Health Risk | Pathogenic | Osteogenesis imperfecta type 16, Osteogenesis imperfecta type 16 |
| RS779809838 | Health Risk | Pathogenic | Osteogenesis imperfecta type 16, Osteogenesis imperfecta type 16 |