Gene Information | |
---|---|
Gene Name | BHLHD2 |
Organism | Homo sapiens (Human) |
Gene Length | 1141 |
Protein Names | Sterol regulatory element-binding protein 2 (SREBP-2) (Class D basic helix-loop-helix protein 2) (bHLHd2) (Sterol regulatory element-binding transcription factor 2) [Cleaved into: Processed sterol regulatory element-binding protein 2 (Transcription factor SREBF2)] |
Target Name | NA |
Target Type | NA |
Gene Age | NA |
Evolutionary Stage | NA |
AlphaFoldDB | Q12772 |
Gene Card | SREBF2 |
Uniprot ID | Q12772 |
Pfam | PF00010 |
In ASD | no |
Allosteric Prediction | NA |
Ortholog in Animals | NA |
Ohnologs | NA |
Paralogs | NA |
Tissue | NA |
Tissue Specificity | Ubiquitously expressed in adult and fetal tissues. {ECO:0000269|PubMed:7903453}. |
Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.003212(Rat);0.044444(Rabbit) |
Gene Ontology (biological process) |
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Gene Ontology (cellular component) |
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Gene Ontology (molecular function) |
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PDB | 1UKL (X-ray 3.00A ) |
DBSNP | rs17002714 rs2228314 rs2229440 rs2228313 |
Subcellular location [CC] | [Sterol regulatory element-binding protein 2]: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12202038}; Multi-pass membrane protein {ECO:0000255}. Golgi apparatus membrane {ECO:0000303|PubMed:28849786}; Multi-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle, COPII-coated vesicle membrane {ECO:0000303|PubMed:28849786}; Multi-pass membrane protein {ECO:0000255}. Note=At high sterol concentrations, the SCAP-SREBP is retained in the endoplasmic reticulum (PubMed:32322062). Low sterol concentrations promote recruitment into COPII-coated vesicles and transport of the SCAP-SREBP to the Golgi, where it is processed (PubMed:32322062). {ECO:0000269|PubMed:32322062}.; [Processed sterol regulatory element-binding protein 2]: Nucleus {ECO:0000269|PubMed:11477106, ECO:0000269|PubMed:32322062}. Note=Transported into the nucleus with the help of importin-beta. Dimerization of the bHLH domain is a prerequisite for importin beta-dependent nuclear import. {ECO:0000250|UniProtKB:Q3U1N2}. |
Mouse PG classification | NA |
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