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Aliases for SREBF2 Gene

Aliases for SREBF2 Gene

  • Sterol Regulatory Element Binding Transcription Factor 2 2 3 5
  • Sterol Regulatory Element-Binding Transcription Factor 2 3 4
  • Class D Basic Helix-Loop-Helix Protein 2 3 4
  • SREBP-2 3 4
  • SREBP2 3 4
  • BHLHd2 3 4

External Ids for SREBF2 Gene

Previous GeneCards Identifiers for SREBF2 Gene

  • GC22P038843
  • GC22P040473
  • GC22P040474
  • GC22P040475
  • GC22P040553
  • GC22P042230
  • GC22P025194
  • GC22P042231
  • GC22P042244
  • GC22P042261
  • GC22P042273
  • GC22P042287

Summaries for SREBF2 Gene

Entrez Gene Summary for SREBF2 Gene

  • 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]

GeneCards Summary for SREBF2 Gene

SREBF2 (Sterol Regulatory Element Binding Transcription Factor 2) is a Protein Coding gene. Diseases associated with SREBF2 include Avascular Necrosis Of The Femoral Head and Homozygous Familial Hypercholesterolemia. Among its related pathways are Terpenoid backbone biosynthesis and Regulation of cholesterol biosynthesis by SREBP (SREBF). GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein dimerization activity. An important paralog of this gene is SREBF1.

UniProtKB/Swiss-Prot for SREBF2 Gene

  • Transcriptional activator required for lipid homeostasis. Regulates transcription of the LDL receptor gene as well as the cholesterol and to a lesser degree the fatty acid synthesis pathway (By similarity). Binds the sterol regulatory element 1 (SRE-1) (5-ATCACCCCAC-3) found in the flanking region of the LDRL and HMG-CoA synthase genes.

Gene Wiki entry for SREBF2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SREBF2 Gene

Genomics for SREBF2 Gene

Regulatory Elements for SREBF2 Gene

Enhancers for SREBF2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SREBF2 on UCSC Golden Path with GeneCards custom track

Promoters for SREBF2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SREBF2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SREBF2 Gene

Chromosome:
22
Start:
41,833,079 bp from pter
End:
41,907,308 bp from pter
Size:
74,230 bases
Orientation:
Plus strand

Genomic View for SREBF2 Gene

Genes around SREBF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SREBF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SREBF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SREBF2 Gene

Proteins for SREBF2 Gene

  • Protein details for SREBF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12772-SRBP2_HUMAN
    Recommended name:
    Sterol regulatory element-binding protein 2
    Protein Accession:
    Q12772
    Secondary Accessions:
    • Q05BD5
    • Q6GTH7
    • Q86V36
    • Q9UH04

    Protein attributes for SREBF2 Gene

    Size:
    1141 amino acids
    Molecular mass:
    123688 Da
    Quaternary structure:
    • Forms a tight complex with SCAP in the ER membrane. Efficient DNA binding of the soluble transcription factor fragment requires dimerization with another bHLH protein. Interacts with LMNA. Component of SCAP/SREBP complex composed of SREBF2, SCAP and RNF139; the complex hampers the interaction between SCAP and SEC24B, thereby reducing SREBF2 proteolytic processing. Interacts (via C-terminal domain) with RNF139.
    SequenceCaution:
    • Sequence=AAH51799.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SREBF2 Gene

    Alternative splice isoforms for SREBF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SREBF2 Gene

Proteomics data for SREBF2 Gene at MOPED

Post-translational modifications for SREBF2 Gene

  • At low cholesterol the SCAP/SREBP complex is recruited into COPII vesicles for export from the ER. In the Golgi complex SREBPs are cleaved sequentially by site-1 and site-2 protease. The first cleavage by site-1 protease occurs within the luminal loop, the second cleavage by site-2 protease occurs within the first transmembrane domain and releases the transcription factor from the Golgi membrane. Apoptosis triggers cleavage by the cysteine proteases caspase-3 and caspase-7.
  • Phosphorylated by AMPK, leading to suppress protein processing and nuclear translocation, and repress target gene expression.
  • Ubiquitination at Lys 363, Lys 386, Lys 660, Lys 768, Lys 782, Lys 805, Lys 907, Lys 918, Lys 934, Lys 989, and Lys 1067
  • Modification sites at PhosphoSitePlus

Other Protein References for SREBF2 Gene

Antibody Products

No data available for DME Specific Peptides for SREBF2 Gene

Domains & Families for SREBF2 Gene

Gene Families for SREBF2 Gene

Protein Domains for SREBF2 Gene

Graphical View of Domain Structure for InterPro Entry

Q12772

UniProtKB/Swiss-Prot:

SRBP2_HUMAN :
  • Contains 1 bHLH (basic helix-loop-helix) domain.
  • Belongs to the SREBP family.
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
Family:
  • Belongs to the SREBP family.
genes like me logo Genes that share domains with SREBF2: view

Function for SREBF2 Gene

Molecular function for SREBF2 Gene

GENATLAS Biochemistry:
sterol regulatory element binding protein 2,controlling cholesterol homeostasis
UniProtKB/Swiss-Prot Function:
Transcriptional activator required for lipid homeostasis. Regulates transcription of the LDL receptor gene as well as the cholesterol and to a lesser degree the fatty acid synthesis pathway (By similarity). Binds the sterol regulatory element 1 (SRE-1) (5-ATCACCCCAC-3) found in the flanking region of the LDRL and HMG-CoA synthase genes.

Gene Ontology (GO) - Molecular Function for SREBF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0005515 protein binding IEA,IPI 10976766
GO:0070888 E-box binding IDA 15358760
genes like me logo Genes that share ontologies with SREBF2: view
genes like me logo Genes that share phenotypes with SREBF2: view

Animal Model Products

Targeted motifs for SREBF2 Gene
HOMER Transcription Factor Regulatory Elements motif SREBF2
  • Consensus sequence: CGGTCACGCCAC Submotif: canonical Cell Type: HepG2 GEO ID: GSE31477

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models and Transcription Factor Targets for SREBF2 Gene

Localization for SREBF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SREBF2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Cytoplasmic vesicle, COPII-coated vesicle membrane; Multi-pass membrane protein. Note=Moves from the endoplasmic reticulum to the Golgi in the absence of sterols.
Processed sterol regulatory element-binding protein 2: Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SREBF2 Gene COMPARTMENTS Subcellular localization image for SREBF2 gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 5
golgi apparatus 5
nucleus 5
extracellular 2
peroxisome 2
endosome 1
lysosome 1
mitochondrion 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for SREBF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0032937 SREBP-SCAP-Insig complex IDA 12242332
genes like me logo Genes that share ontologies with SREBF2: view

Pathways & Interactions for SREBF2 Gene

genes like me logo Genes that share pathways with SREBF2: view

SIGNOR curated interactions for SREBF2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SREBF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process TAS 7903453
GO:0010886 positive regulation of cholesterol storage IDA 15358760
GO:0044281 small molecule metabolic process TAS --
GO:0072368 regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter IDA 15358760
GO:2000188 regulation of cholesterol homeostasis IEA --
genes like me logo Genes that share ontologies with SREBF2: view

Drugs & Compounds for SREBF2 Gene

(14) Drugs for SREBF2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(12) Additional Compounds for SREBF2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SREBF2: view

Transcripts for SREBF2 Gene

Unigene Clusters for SREBF2 Gene

Sterol regulatory element binding transcription factor 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SREBF2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b · 18c ^
SP1:
SP2: - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: - - - -
SP9:
SP10: -
SP11: -
SP12:
SP13:
SP14:

ExUns: 19a · 19b ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b
SP1: -
SP2:
SP3: - - - -
SP4: - - - -
SP5:
SP6:
SP7:
SP8:
SP9: - - -
SP10:
SP11:
SP12: -
SP13:
SP14:

Relevant External Links for SREBF2 Gene

GeneLoc Exon Structure for
SREBF2
ECgene alternative splicing isoforms for
SREBF2

Expression for SREBF2 Gene

mRNA expression in normal human tissues for SREBF2 Gene

Protein differential expression in normal tissues from HIPED for SREBF2 Gene

This gene is overexpressed in Platelet (29.9), Fetal testis (19.3), Tonsil (9.5), and Testis (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SREBF2 Gene



SOURCE GeneReport for Unigene cluster for SREBF2 Gene Hs.443258

mRNA Expression by UniProt/SwissProt for SREBF2 Gene

Q12772-SRBP2_HUMAN
Tissue specificity: Ubiquitously expressed in adult and fetal tissues.
genes like me logo Genes that share expression patterns with SREBF2: view

Protein tissue co-expression partners for SREBF2 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SREBF2 Gene

Orthologs for SREBF2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SREBF2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SREBF2 35
  • 87.51 (n)
  • 90.96 (a)
SREBF2 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SREBF2 35
  • 89.18 (n)
  • 92.57 (a)
SREBF2 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Srebf2 35
  • 87.35 (n)
  • 92.21 (a)
Srebf2 16
Srebf2 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SREBF2 35
  • 98.98 (n)
  • 98.51 (a)
SREBF2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Srebf2 35
  • 87.5 (n)
  • 92.5 (a)
oppossum
(Monodelphis domestica)
Mammalia SREBF2 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SREBF2 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves SREBF2 35
  • 76.93 (n)
  • 81.8 (a)
SREBF2 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SREBF2 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia srebf2 35
  • 66.85 (n)
  • 70.84 (a)
Str.15699 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.12927 35
zebrafish
(Danio rerio)
Actinopterygii srebf2 35
  • 60.75 (n)
  • 55.33 (a)
srebf2 36
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta HLH106 37
  • 33 (a)
HLH106 36
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sbp-1 36
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9273 36
  • 33 (a)
OneToMany
Species with no ortholog for SREBF2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SREBF2 Gene

ENSEMBL:
Gene Tree for SREBF2 (if available)
TreeFam:
Gene Tree for SREBF2 (if available)

Paralogs for SREBF2 Gene

Paralogs for SREBF2 Gene

(3) SIMAP similar genes for SREBF2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SREBF2: view

Variants for SREBF2 Gene

Sequence variations from dbSNP and Humsavar for SREBF2 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs2228314 - 41,880,738(+) TGCCG(C/G)CAACC nc-transcript-variant, reference, missense
rs2229440 - 41,880,821(+) GGAAC(A/G)TGATC nc-transcript-variant, reference, missense
VAR_036394 A breast cancer sample
VAR_036395 A breast cancer sample
rs17002714 - 41,877,968(-) GGATG(A/C/G/T)TGCCT intron-variant, nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SREBF2 Gene

Variant ID Type Subtype PubMed ID
nsv191436 CNV Insertion 16902084
nsv508736 CNV Insertion 20534489
dgv4979n71 CNV Loss 21882294
dgv4980n71 CNV Loss 21882294

Variation tolerance for SREBF2 Gene

Residual Variation Intolerance Score: 20% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.04; 92.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SREBF2 Gene

Human Gene Mutation Database (HGMD)
SREBF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SREBF2 Gene

Disorders for SREBF2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SREBF2 Gene - From: GeneCards

- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SREBF2

Genetic Association Database (GAD)
SREBF2
Human Genome Epidemiology (HuGE) Navigator
SREBF2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SREBF2
genes like me logo Genes that share disorders with SREBF2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SREBF2 Gene

Publications for SREBF2 Gene

  1. SREBP-2, a second basic-helix-loop-helix-leucine zipper protein that stimulates transcription by binding to a sterol regulatory element. (PMID: 7903453) Hua X. … Wang X. (Proc. Natl. Acad. Sci. U.S.A. 1993) 2 3 4 23 67
  2. Interactions among genetic variants from SREBP2 activating-related pathway on risk of coronary heart disease in Chinese Han population. (PMID: 19740467) Liu X. … Gu D. (Atherosclerosis 2010) 3 23
  3. HNF1alpha and SREBP2 are important regulators of NPC1L1 in human liver. (PMID: 20460578) Pramfalk C. … Parini P. (J. Lipid Res. 2010) 3 23
  4. Enhanced free cholesterol, SREBP-2 and StAR expression in human NASH. (PMID: 19231010) Caballero F. … GarcA-a-Ruiz C. (J. Hepatol. 2009) 3 23
  5. Polymorphism of the sterol regulatory element-binding protein-2 gene and its association with serum lipid levels in the Guangxi Hei Yi Zhuang and Han populations. (PMID: 19263511) Yaju D. … Dezhai Y. (Am. J. Med. Sci. 2009) 3 23

Products for SREBF2 Gene

Sources for SREBF2 Gene

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