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Aliases for SREBF2 Gene

Aliases for SREBF2 Gene

  • Sterol Regulatory Element Binding Transcription Factor 2 2 3
  • 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
  • Sterol Regulatory Element-Binding Protein 2 3

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 homozygous familial hypercholesterolemia and avascular necrosis of the femoral head. Among its related pathways are L1CAM interactions and Regulation of Cholesterol Biosynthesis by SREBP (SREBF). GO annotations related to this gene include sequence-specific DNA binding transcription factor activity 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SREBF2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys363, Lys386, Lys579, Lys660, Lys768, Lys782, Lys805, Lys907, Lys918, Lys934, Lys989, and Lys1067
  • Modification sites at PhosphoSitePlus

Other Protein References for SREBF2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SREBF2 Gene

Domains for SREBF2 Gene

Gene Families for SREBF2 Gene

HGNC:
  • bHLH :Basic helix-loop-helix proteins

Protein Domains for SREBF2 Gene

Graphical View of Domain Structure for InterPro Entry

Q12772

UniProtKB/Swiss-Prot:

SRBP2_HUMAN :
  • Q12772
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:0000247 NOT C-8 sterol isomerase activity IDA 12941800
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 15358760
GO:0001078 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IDA 15358760
GO:0003677 DNA binding --
GO:0003700 sequence-specific DNA binding transcription factor activity --
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

CRISPR Products

miRNA for SREBF2 Gene

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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SREBF2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models and Transcription Factor Targeting 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
endoplasmic reticulum 5
golgi apparatus 5
nucleus 5
cytosol 4
extracellular 2
peroxisome 2
endosome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SREBF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA 12941800
genes like me logo Genes that share ontologies with SREBF2: view

Pathways for SREBF2 Gene

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

PCR Array Products

Gene Ontology (GO) - Biological Process for SREBF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 15358760
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006629 lipid metabolic process TAS 7903453
GO:0008203 cholesterol metabolic process IEA --
genes like me logo Genes that share ontologies with SREBF2: view

Compounds for SREBF2 Gene

(26) Novoseek inferred chemical compound relationships for SREBF2 Gene

Compound -log(P) Hits PubMed IDs
sterol 95.2 122
3-hydroxy-3-methylglutaryl-coa 82.3 14
cholesterol 80.1 111
squalene 73.3 1
25-hydroxycholesterol 72.3 4
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SREBF2

Primer Products

Flow Cytometry Products

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

Integrated Proteomics: protein expression 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 expressions with SREBF2: view

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia SREBF2 35
  • 98.98 (n)
  • 98.51 (a)
SREBF2 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia SREBF2 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SREBF2 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Srebf2 35
  • 87.5 (n)
  • 92.5 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.12927 35
tropical clawed frog
(Silurana tropicalis)
Amphibia srebf2 35
  • 66.85 (n)
  • 70.84 (a)
Str.15699 35
zebrafish
(Danio rerio)
Actinopterygii srebf2 35
  • 60.75 (n)
  • 55.33 (a)
srebf2 36
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta HLH106 36
  • 27 (a)
OneToMany
HLH106 37
  • 33 (a)
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

Selected 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 MAF
rs8988 -- 41,906,906(+) CTCCC(A/G)GAGAC utr-variant-3-prime, nc-transcript-variant
rs16443 -- 41,907,247(+) GATGT(-/TCAA)TCAAT utr-variant-3-prime, nc-transcript-variant
rs80720 -- 41,860,084(+) acagg(C/T)gtgag intron-variant
rs133280 -- 41,859,521(+) TTTAT(A/G)TTATG intron-variant
rs133281 -- 41,862,045(+) TACCT(A/G)TTAAA intron-variant

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

Relevant External Links for SREBF2 Gene

HapMap Linkage Disequilibrium report
SREBF2
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

MalaCards: The human disease database. (2) Diseases for SREBF2 Gene including...

Search for SREBF2 Gene in MalaCards »

(1) University of Copenhagen DISEASES for SREBF2 Gene

(8) Novoseek inferred disease relationships for SREBF2 Gene

Disease -log(P) Hits PubMed IDs
hypercholesterolemia 42 5
hyperlipidemia 23.8 1
atherosclerosis 19 3
cancer 3.11 3
ovarian carcinoma 0 1

Relevant External Links for SREBF2

Genetic Association Database (GAD)
SREBF2
Human Genome Epidemiology (HuGE) Navigator
SREBF2
genes like me logo Genes that share disorders with SREBF2: view

No data available for UniProtKB/Swiss-Prot 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
  2. The structure of importin-beta bound to SREBP-2: nuclear import of a transcription factor. (PMID: 14645851) Lee S.J. … Yoneda Y. (Science 2003) 3 4 23
  3. [Relations between polymorphism of sterol regulatory element binding protein-2 gene and hyperlipidemia in the Han ethics of China]. (PMID: 15211801) Duan X. … Dao J. (Wei Sheng Yan Jiu 2004) 3 23 48
  4. The effect of sterol regulatory element-binding protein 2 polymorphism on the serum lipid in northern Chinese subjects. (PMID: 15547298) Duan X. … Xiao Y. (J. Lipid Res. 2005) 3 23 48
  5. Regulated cleavage of sterol regulatory element binding proteins requires sequences on both sides of the endoplasmic reticulum membrane. (PMID: 8626610) Hua X. … Goldstein J.L. (J. Biol. Chem. 1996) 3 4 23

Products for SREBF2 Gene

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