CREB3L3 Chromosome 19
CAMP responsive element binding protein 3 like 3
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What This Gene Does
This gene encodes a member of the basic-leucine zipper family and the AMP-dependent transcription factor family. The encoded protein is localized to the endoplasmic reticulum and acts as a transcription factor activated by cyclic AMP stimulation. The encoded protein binds the cyclic AMP response element (CRE) and the box-B element and has been linked to acute inflammatory response, hepatocellular carcinoma, triglyceride metabolism, and hepcidin expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
Gene Info
Gene Group
CREB3 transcription factor family
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000060566
Associated Conditions (3)
Hypertriglyceridemia 1
Episodic kinesigenic dyskinesia 1
Hypertriglyceridemia 2
Key Variants
RS141354235
Conflicting classifications of pathogenicity
Health Risk
RS150431015
Conflicting classifications of pathogenicity
Health Risk
RS376080374
Conflicting classifications of pathogenicity
Health Risk
RS775663071
Conflicting classifications of pathogenicity
Health Risk
RS775793810
Conflicting classifications of pathogenicity
Health Risk
RS778428363
Conflicting classifications of pathogenicity
Hypertriglyceridemia 1, Episodic kinesigenic dyskinesia 1, Hypertriglyceridemia 1
Health Risk
RS780374391
Conflicting classifications of pathogenicity
Hypertriglyceridemia 1, Hypertriglyceridemia 2, Hypertriglyceridemia 1
Health Risk
RS200078501
Likely pathogenic
Health Risk
RS2041700760
Likely pathogenic
Health Risk
RS375783448
Likely pathogenic
Health Risk
RS1167386243
Pathogenic
Hypertriglyceridemia 2, Hypertriglyceridemia 2
Health Risk
RS1433306229
Pathogenic
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141354235 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150431015 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376080374 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS775663071 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS775793810 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS778428363 | Health Risk | Conflicting classifications of pathogenicity | Hypertriglyceridemia 1, Episodic kinesigenic dyskinesia 1, Hypertriglyceridemia 1 |
| RS780374391 | Health Risk | Conflicting classifications of pathogenicity | Hypertriglyceridemia 1, Hypertriglyceridemia 2, Hypertriglyceridemia 1 |
| RS200078501 | Health Risk | Likely pathogenic | — |
| RS2041700760 | Health Risk | Likely pathogenic | — |
| RS375783448 | Health Risk | Likely pathogenic | — |
| RS1167386243 | Health Risk | Pathogenic | Hypertriglyceridemia 2, Hypertriglyceridemia 2 |
| RS1433306229 | Health Risk | Pathogenic | — |
| RS143652660 | Health Risk | Pathogenic | — |
| RS2145120326 | Health Risk | Pathogenic | Hypertriglyceridemia 2, Hypertriglyceridemia 2 |
| RS2512343670 | Health Risk | Pathogenic | — |
| RS748629190 | Health Risk | Pathogenic | — |
| RS376781216 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS531932249 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS912378886 | Health Risk | Pathogenic/Likely pathogenic | Hypertriglyceridemia 2, Hypertriglyceridemia 2 |