Basic gene annotations are collected from Uniprot and displayed with links to original sources. A quick link to explore the genomic context with Uniprot Browser is available.
CREB3L2 - cAMP responsive element binding protein 3 like 2
Function
Transcription factor involved in unfolded protein response (UPR). In the absence of endoplasmic reticulum (ER) stress, inserted into ER membranes, with N-terminal DNA-binding and transcription activation domains oriented toward the cytosolic face of the membrane. In response to ER stress, transported to the Golgi, where it is cleaved in a site-specific manner by resident proteases S1P/MBTPS1 and S2P/MBTPS2. The released N-terminal cytosolic domain is translocated to the nucleus to effect transcription of specific target genes. Plays a critical role in chondrogenesis by activating the transcription of SEC23A, which promotes the transport and secretion of cartilage matrix proteins, and possibly that of ER biogenesis-related genes (By similarity). In a neuroblastoma cell line, protects cells from ER stress-induced death (PubMed:17178827). In vitro activates transcription of target genes via direct binding to the CRE site (PubMed:17178827).
Uniprot Browser| Entrez ID | EnsEMBL ID | Preferred Name | Uniprot ID |
|---|---|---|---|
| 64764 | ENSG00000182158 | CREB3L2 | Q70SY1 |
Causal Flows are statistically significant links between putative causal events (somatic mutations, copy number variations, chromosomal translocations, etc.) and the activity levels of regulators and regulons. In the causal flow, a mutation may causally activate or deactivate a downstream regulator which then might up- down-regulates a regulonthat contains genes with similar expression profiles and binding sites.
Causal Mechanistic Flows with ENSG00000182158 as Regulator
| ID | Mutation | Role | Regulator | Role | Regulon | # downstream regulons | # diffexp regulons | Drugs |
|---|---|---|---|---|---|---|---|---|
| CMF-05106 | SPEG | down-regulates | CREB3L2 | activates | R-3124 | 2 | 2 | Drugs (6) Regulator Drugs (0)Regulon Drugs (6)LANATOSIDE C, DIGOXIN, ACETYLDIGITOXIN, DIGITOXIN, DESLANOSIDE, ISTAROXIME |
| CMF-12311 | GPR98 | down-regulates | CREB3L2 | activates | R-3124 | 2 | 1 | Drugs (6) Regulator Drugs (0)Regulon Drugs (6)LANATOSIDE C, DIGOXIN, ACETYLDIGITOXIN, DIGITOXIN, DESLANOSIDE, ISTAROXIME |
| CMF-19440 | NF1 | up-regulates | CREB3L2 | activates | R-3124 | 2 | 1 | Drugs (6) Regulator Drugs (0)Regulon Drugs (6)LANATOSIDE C, DIGOXIN, ACETYLDIGITOXIN, DIGITOXIN, DESLANOSIDE, ISTAROXIME |
| CMF-28426 | MYO9B | down-regulates | CREB3L2 | activates | R-3124 | 2 | 1 | Drugs (6) Regulator Drugs (0)Regulon Drugs (6)LANATOSIDE C, DIGOXIN, ACETYLDIGITOXIN, DIGITOXIN, DESLANOSIDE, ISTAROXIME |