SREBF2 - sterol regulatory element binding transcription factor 2 Gene

Also Known as SREBP2; bHLHd2; SREBP-2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6721

About SREBF2

Cytogenetic location: 22q13.2 Genomic coordinates (GRCh38): 22:41,833,105-41,907,305 (from NCBI)

This gene has 9 transcripts (splice variants), 208 orthologues and 3 paralogues. Ubiquitous expression in brain (RPKM 36.5), esophagus (RPKM 27.8) and 25 other tissues.

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) domain and binds the sterol regulatory element 1 motif. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

SREBF2 Products (1)

mRNA	Protein	Name
NM_004599.4	NP_004590.2	sterol regulatory element-binding protein 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
NOT enables C-8 sterol isomerase activity	IDA IDA: Inferred from direct assay	12941800	GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	12177166	GOA
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	15358760	GOA
enables E-box binding	IDA IDA: Inferred from direct assay	15358760	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	15358760	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9242699	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in SREBP signaling pathway	IDA IDA: Inferred from direct assay	27614840	GOA
involved in SREBP signaling pathway	IMP IMP: Inferred from mutant phenotype	27614840	GOA
involved in cellular response to low-density lipoprotein particle stimulus	IEP IEP: Inferred from expression pattern	15358760	GOA
involved in cellular response to starvation	IMP IMP: Inferred from mutant phenotype	25339898	GOA
acts upstream of negative regulation of cholesterol efflux	IDA IDA: Inferred from direct assay	15358760	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	15358760	GOA
involved in positive regulation of cholesterol biosynthetic process	IDA IDA: Inferred from direct assay	12177166	GOA
acts upstream of positive regulation of cholesterol storage	IDA IDA: Inferred from direct assay	15358760	GOA
acts upstream of or within positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	12446768	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	12242332	GOA
involved in regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	32322062	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of SREBP-SCAP-Insig complex	IDA IDA: Inferred from direct assay	12202038	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	12941800	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	12202038	GOA
located in nucleus	IDA IDA: Inferred from direct assay	12202038	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SREBF2 Protein Structure

HLH

0
200
400
600
800
1000
1141 a.a.

Protein Preferred Names	Protein Names
sterol regulatory element-binding protein 2	class D basic helix-loop-helix protein 2

SREBF2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SREBF2	Q12772	NFYC	Homo sapiens	Q13952-2	Validated Y2H	32296183
Intra	SREBF2	Q12772	SP1	Homo sapiens	P08047	Y2H	10976766
Intra	SREBF2	Q12772	TP53	Homo sapiens	P04637	Anti Bait CoIP	22265415
Intra	SREBF2	Q12772	MED15	Homo sapiens	Q96RN5	Pull Down	16799563
Intra	SREBF2	Q12772	FHL2	Homo sapiens	Q14192	Validated Y2H	32296183
Intra	SREBF2	Q12772	CREBBP	Homo sapiens	Q92793	Pull Down	16799563

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Non-Alcoholic Fatty Liver Disease	Fatty Liver Non-Alcoholic Fatty Liver Nafld Nonalcoholic Fatty Liver Disease Nonalcoholic Steatohepatitis Steatosis Nafl Nash Non-Alcoholic Steatohepatitis Susceptibility To Nonalcoholic Fatty Liver Disease Steatohepatitis Fatty Degeneration Non-Alcoholic Fatty Liver Disease Without Mention Of Non-Alcoholic Steatohepatitis Nafld Without Nash Nafld Without Mention Of Nash
Familial Hypercholesterolemia	Hyperlipoproteinemia Type Iia Familial Hyperbetalipoproteinaemia Familial Hypercholesteremia Fredrickson Type Iia Hyperlipoproteinemia Fredrickson Type Iia Lipidaemia Hyperbetalipoproteinemia Type Ii Hyperlipidemia Familial Hypercholesterolæmia Familial Hypercholesterolaemia Fh Hypercholesterolemia Familial Hyperlipoproteinemia Type Ii Hypercholesterolemia, Familial
Fatty Liver Disease	Alcoholic Fatty Liver Fatty Liver Fatty Liver, Alcoholic Fatty Change Of Liver Hepatic Lipidosis Steatosis Of Liver Fatty Liver Alcoholic Steatohepatitis Etoh Fatty Liver Etoh Fatty Liver Metamorphosis Fatty Etoh Liver Necrosis
Sitosterolemia	Phytosterolemia Beta-Sitosterolemia Plant Sterol Storage Disease Phytosterolæmia Sitosterolæmia Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body Phytosterolaemia Sitosterolaemia Sitosterolemia With Xanthomatosis
Hypercholesterolemia, Familial, 1	Hypercholesterolemia FHCL1 Fhc Fh Hyperlipoproteinemia, Type Ii Hyperlipoproteinemia, Type Iia Hyper-Low-Density-Lipoproteinemia Hypercholesterolemic Xanthomatosis, Familial Ldl Receptor Disorder Hypercholesterolemia, Susceptibility To Hypercholesterolemia, Familial, Modifier Of Hypercholesterolemia, Familial, Due To Ldlr Defect, Modifier Of Ldl Cholesterol Level Qtl2 Hyperlipoproteinemia Type Ii Hypercholesterolemia, Familial, Type 1 High Cholesterol Increased Cholesterol Low-Density-Lipoid-Type Hyperlipoproteinemia Pure Hypercholesterolaemia Ldl - [Low Density Lipoprotein} Hyperlipoproteinemia Group A Hyperlipidaemia Pure Hypercholesterinaemia Cholesterolaemia Essential Cholesterolaemia Essential Hypercholesterolaemia Group A Hyperlipemia Increased Low Density Lipoprotein Low-Density-Lipoprotein-Type Low-Density-Lipoprotein-Type Hyperlipoproteinemia
Smith-Lemli-Opitz Syndrome	SLOS Rsh Syndrome 7-Dehydrocholesterol Reductase Deficiency Slo Syndrome Rutledge Lethal Multiple Congenital Anomaly Syndrome Lethal Acrodysgenital Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung Smith-Opitz-Inborn Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung Smith Lemli Opitz Syndrome Smith-Lemli-Opitz Syndrome, Type Ii
Non-Alcoholic Steatohepatitis	Nonalcoholic Steatohepatitis Nash Nash - [Non-Alcoholic Steatohepatitis] Non-Alcoholic Steatohepatosis
Lipid Storage Disease	Lipoidosis Inborn Lipid Storage Disorder Lipoid Storage Diseas Lipid Storage Diseases Lipidoses
Niemann-Pick Disease, Type C1	Niemann-Pick Disease, Type C NPC1 Niemann-Pick Disease, Type D Niemann-Pick Disease Type C1 Niemann-Pick Disease With Cholesterol Esterification Block Niemann-Pick Disease, Subacute Juvenile Form Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia Npc Niemann-Pick Disease, Chronic Neuronopathic Form Niemann-Pick Disease Without Sphingomyelinase Deficiency Niemann-Pick Disease Type C Niemann-Pick Disease Type D Niemann-Pick C1 Disease Niemann-Pick Disease C1 Niemann-Pick Disease Chronic Neuronopathic Form Niemann-Pick Disease Nova Scotian Type Niemann-Pick Disease Subacute Juvenile Form Niemann-Pick Disease Type Ii Niemann-Picks Disease Type C
Lipid Metabolism Disorder	Dyslipidemia Disorder Of Fatty Acid Metabolism Lipid Metabolism Disorders Fatty Acid Metabolism Disorder Disorder Of Lipid Metabolism Abnormality Of Lipid Metabolism Lipid Metabolism, Inborn Errors Dyslipidemias Disorders Of Lipid Metabolism Congenital Disorders Of Lipid Metabolism Inherited Disorders Of Lipid Metabolism
Niemann-Pick Disease	Sphingomyelin/Cholesterol Lipidosis Niemann-Pick Diseases Lipoid Histiocytosis Sphingomyelin Lipidosis Sphingomyelinase Deficiency Disease Lipid Histiocytosis Neuronal Cholesterol Lipidosis Neuronal Lipidosis Npd Sphingomyelinase Deficiency Niemann-Pick Disease, Type A
Diabetes Mellitus	Diabetes
Prostate Cancer	Prostate Carcinoma Prostate Cancer, Familial Prostate Neoplasm Prostate Cancer, Somatic Prostate Cancer, Susceptibility To Prostatic Cancer Prostatic Neoplasms Hereditary Prostate Cancer Prostatic Neoplasm Cancer Of Prostate Carcinoma Of Prostate Familial Prostate Cancer Familial Prostate Carcinoma Malignant Tumor Of Prostate Malignant Neoplasm Of Prostate Prostate Cancer, Familial, Susceptibility To Malignant Tumor Of The Prostate Ngp - New Growth Of Prostate Tumor Of The Prostate Prostate Cancer, Hereditary Cancer Of The Prostate Malignant Neoplasm Of The Prostate Prostatic Carcinoma PC Prca Cancer, Prostate Malignant Prostatic Tumour Malignant Tumour Of Prostate Primary Prostate Cancer Primary Malignant Neoplasm Of Prostate Prostate Gland Cancer
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Type 2 Diabetes Diabetes Mellitus, Non-Insulin-Dependent T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13758	SREBF2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21946	Srebf2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-179526	Sino-C		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SREBF2	VGNC	VGNC:65676
Mus musculus	SREBF2	MGD	MGI:107585
Rattus norvegicus	SREBF2	RGD	RGD:1307751
Bos taurus	SREBF2	VGNC	VGNC:35275
Macaca mulatta	SREBF2	VGNC	VGNC:77881
Canis familiaris	SREBF2	VGNC	VGNC:46796
Others	SREBF2	NCBI