CREB3L3

Chr 19p13.3

cAMP responsive element binding protein 3 like 3

Aliases:: CREB-H, CREBH
MANE:: ENST00000078445.7

OMIM: 611998 ↗NCBI: 84699 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

CREB3L3 · Q68CJ9

v62025-08-01

Predicted Aligned Error matrix for CREB3L3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

58.9/ 100

Low

461 residues

Confidence breakdown

Very high(≥ 90)16%
Confident(70–90)15%
Low(50–70)17%
Very low(< 50)53%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Familial chylomicronaemia syndrome (FCS)
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe hypertriglyceridaemia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

hypertriglyceridemia 2
0.74
neurodegenerative disease
0.51
hypertriglyceridemia
0.47
Hyperlipoproteinemia type 4
0.40
Alzheimer disease
0.39
Parkinson disease
0.39
lysosomal storage disease
0.39
multiple sclerosis
0.39
transient infantile hypertriglyceridemia and hepatosteatosis
0.37
episodic kinesigenic dyskinesia 1
0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Cyclic AMP-responsive element-binding protein 3-like protein 3

Transcription factor that may act during endoplasmic reticulum stress by activating unfolded protein response target genes. Activated in response to cAMP stimulation. In vitro, binds to the cAMP response element (CRE) and box-B element. Activates transcription through box-B element. Activates transcription through CRE (By similarity). May function synergistically with ATF6. In acute inflammatory response, may activate expression of acute phase response (APR) genes. May be involved in growth suppression. Regulates FGF21 transcription (By similarity). Plays a crucial role in the regulation of triglyceride metabolism and is required for the maintenance of normal plasma triglyceride concentrations (PubMed:21666694)