Gene Gene information from NCBI Gene database.
Entrez ID 6721
Gene name Sterol regulatory element binding transcription factor 2
Gene symbol SREBF2
Synonyms (NCBI Gene)
SREBP-2SREBP2bHLHd2
Chromosome 22
Chromosome location 22q13.2
Summary This gene encodes a member of the a ubiquitously expressed transcription factor that controls cholesterol homeostasis by regulating transcription of sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) do
miRNA miRNA information provided by mirtarbase database.
173
miRTarBase ID miRNA Experiments Reference
MIRT018283 hsa-miR-335-5p Microarray 18185580
MIRT050003 hsa-miR-28-5p CLASH 23622248
MIRT049508 hsa-miR-92a-3p CLASH 23622248
MIRT043540 hsa-miR-331-3p CLASH 23622248
MIRT037293 hsa-miR-877-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
PPARA Repression 16946405
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
67
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 15358760
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 19098903
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0000247 Function C-8 sterol isomerase activity IDA 12941800
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600481 11290 ENSG00000198911
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q12772
Protein name 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
Protein function [Sterol regulatory element-binding protein 2]: Precursor of the transcription factor form (Processed sterol regulatory element-binding protein 2), which is embedded in the endoplasmic reticulum membrane (PubMed:32322062). Low sterol concentratio
PDB 1UKL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 331 381 Helix-loop-helix DNA-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed in adult and fetal tissues. {ECO:0000269|PubMed:7903453}.
Sequence
MDDSGELGGLETMETLTELGDELTLGDIDEMLQFVSNQVGEFPDLFSEQLCSSFPGSGGS
GSSSGSSGSSSSSSNGRGSSSGAVDPSVQRSFTQVTLPSFSPSAASPQAPTLQVKVSPTS
VPTTPRATPILQPRPQPQPQPQTQLQQQTVMITPTFSTTPQTRIIQQPLIYQNAATSFQV
LQPQVQSLVTSSQVQPVTIQQQVQTVQAQRVLTQTANGTLQTLAPATVQTVAAPQVQQVP
VLVQPQIIKTDSLVLTTLKTDGSPVMAAVQNPALTALTTPIQTAALQVPTLVGSSGTILT
TMPVMMGQEKVPIKQVPGGVKQLEPPKEGERRTTHNIIEKRYRSSINDKIIELKDLVMGT
DAKMHKSGVLRKAIDYIKYLQ
QVNHKLRQENMVLKLANQKNKLLKGIDLGSLVDNEVDLK
IEDFNQNVLLMSPPASDSGSQAGFSPYSIDSEPGSPLLDDAKVKDEPDSPPVALGMVDRS
RILLCVLTFLCLSFNPLTSLLQWGGAHDSDQHPHSGSGRSVLSFESGSGGWFDWMMPTLL
LWLVNGVIVLSVFVKLLVHGEPVIRPHSRSSVTFWRHRKQADLDLARGDFAAAAGNLQTC
LAVLGRALPTSRLDLACSLSWNVIRYSLQKLRLVRWLLKKVFQCRRATPATEAGFEDEAK
TSARDAALAYHRLHQLHITGKLPAGSACSDVHMALCAVNLAECAEEKIPPSTLVEIHLTA
AMGLKTRCGGKLGFLASYFLSRAQSLCGPEHSAVPDSLRWLCHPLGQKFFMERSWSVKSA
AKESLYCAQRNPADPIAQVHQAFCKNLLERAIESLVKPQAKKKAGDQEEESCEFSSALEY
LKLLHSFVDSVGVMSPPLSRSSVLKSALGPDIICRWWTSAITVAISWLQGDDAAVRSHFT
KVERIPKALEVTESPLVKAIFHACRAMHASLPGKADGQQSSFCHCERASGHLWSSLNVSG
ATSDPALNHVVQLLTCDLLLSLRTALWQKQASASQAVGETYHASGAELAGFQRDLGSLRR
LAHSFRPAYRKVFLHEATVRLMAGASPTRTHQLLEHSLRRRTTQSTKHGEVDAWPGQRER
ATAILLACRHLPLSFLSSPGQRAVLLAEAARTLEKVGDRRSCNDCQQMIVKLGGGTAIAA
S
Sequence length 1141
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Regulation of cholesterol biosynthesis by SREBP (SREBF)
PPARA activates gene expression
Activation of gene expression by SREBF (SREBP)
EGR2 and SOX10-mediated initiation of Schwann cell myelination
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
29
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs78359171 RCV005915719
Adrenocortical carcinoma, hereditary Benign rs2228313 RCV005917920
Cervical cancer Benign rs78359171 RCV005915721
Cholangiocarcinoma Benign rs2228313 RCV005917923
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acrocephalosyndactylia Associate 31490983
Acute Coronary Syndrome Associate 31490983
Adenomatous Polyposis Coli Inhibit 29866653
Alzheimer Disease Inhibit 22414021
Alzheimer Disease Associate 33920138
Amyotrophic Lateral Sclerosis Associate 31861978
Atherosclerosis Associate 19292868, 23717417
Autoimmune Lymphoproliferative Syndrome Stimulate 38588613
Breast Neoplasms Associate 26317411
Carcinogenesis Associate 31432128