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SREBF2 Gene

protein-coding   GIFtS: 67
GCID: GC22P042287

Sterol Regulatory Element Binding Transcription Factor 2

  See SREBF2-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Sterol Regulatory Element Binding Transcription Factor 21 2     SREBP22 3
Class D Basic Helix-Loop-Helix Protein 22 3     bHLHd22 3
Sterol Regulatory Element-Binding Transcription Factor 22 3     Sterol Regulatory Element-Binding Protein 22
SREBP-22 3     BHLHD23

External Ids:    HGNC: 112901   Entrez Gene: 67212   Ensembl: ENSG000001989117   OMIM: 6004815   UniProtKB: Q127723   

Export aliases for SREBF2 gene to outside databases

Previous GC identifers: GC22P038843 GC22P040473 GC22P040474 GC22P040475 GC22P040553 GC22P042230 GC22P025194 GC22P042231 GC22P042244 GC22P042261 GC22P042273


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include protein dimerization activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is SREBF1.

UniProtKB/Swiss-Prot: SRBP2_HUMAN, Q12772
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 Wiki entry for SREBF2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SREBF2 gene promoter:
         GR   CREB   deltaCREB   STAT5A   GR-alpha   LCR-F1   ATF6   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSREBF2 promoter sequence
   Search Chromatin IP Primers for SREBF2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SREBF2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13   Ensembl cytogenetic band:  22q13.2   HGNC cytogenetic band: 22q13.2

SREBF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SREBF2 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P042287:  view genomic region     (about GC identifiers)

Start:
42,229,106 bp from pter      End:
42,303,312 bp from pter
Size:
74,207 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SRBP2_HUMAN, Q12772 (See protein sequence)
Recommended Name: Sterol regulatory element-binding protein 2  
Size: 1141 amino acids; 123688 Da
Subunit: 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-terminus domain) with RNF139
Sequence caution: Sequence=AAH51799.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for SREBF2:
1UKL (3D)    
Secondary accessions: Q6GTH7 Q86V36 Q9UH04

Explore the universe of human proteins at neXtProt for SREBF2: NX_Q12772

Explore proteomics data for SREBF2 at MOPED

Post-translational modifications: 

  • 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-71
  • Phosphorylated by AMPK, leading to suppress protein processing and nuclear translocation, and repress target gene
    expression (By similarity)1
  • Ubiquitination2 at Lys363, Lys386, Lys579, Lys660, Lys768, Lys782, Lys805, Lys907, Lys918, Lys934,
                                 Lys989, Lys1067
  • Modification sites at PhosphoSitePlus

  • See SREBF2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004590.2  
    ENSEMBL proteins: 
     ENSP00000354476   ENSP00000395728   ENSP00000412287  
    Reactome Protein details: Q12772

    SREBF2 Human Recombinant Protein Products:

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    Novus Biologicals SREBF2 Protein
    Novus Biologicals SREBF2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SREBF2

     
    Search eBioscience for Proteins for SREBF2 

    SREBF2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SREBF2
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    Search for Antibodies for SREBF2 at Abcam
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    ThermoFisher Antibody for SREBF2
    LSBio Antibodies in human, mouse, rat for SREBF2

    SREBF2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SREBF2
    Cloud-Clone Corp. CLIAs for SREBF2
    Search eBioscience for ELISAs for SREBF2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    bHLH: Basic helix-loop-helix proteins

    1 InterPro protein domain:
     IPR011598 bHLH_dom

    Graphical View of Domain Structure for InterPro Entry Q12772

    ProtoNet protein and cluster: Q12772

    1 Blocks protein domain: IPB001092 Basic helix-loop-helix dimerization domain bHLH

    UniProtKB/Swiss-Prot: SRBP2_HUMAN, Q12772
    Similarity: Belongs to the SREBP family
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    Find genes that share domains with SREBF2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SRBP2_HUMAN, Q12772
    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

         Genatlas biochemistry entry for SREBF2:
    sterol regulatory element binding protein 2,controlling cholesterol homeostasis

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000247NOT C-8 sterol isomerase activity IDA12941800
    GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA15358760
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI10976766
         
    Find genes that share ontologies with SREBF2           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for SREBF2:
     Decreased viability with pacli  Synthetic lethal with Ras 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Srebf2):
     homeostasis/metabolism  integument  liver/biliary system  mortality/aging  vision/eye 

    Find genes that share phenotypes with SREBF2           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SREBF2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SREBF2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SREBF2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SREBF2

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  CGGTCACGCCAC 

    miRNA
    Products:
        
    miRTarBase miRNAs that target SREBF2:
    hsa-mir-877-5p (MIRT037293), hsa-mir-28-5p (MIRT050003), hsa-mir-331-3p (MIRT043540), hsa-mir-335-5p (MIRT018283), hsa-mir-92a-3p (MIRT049508)

    Block miRNA regulation of human, mouse, rat SREBF2 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate SREBF2:
    hsa-miR-365 hsa-miR-3163 hsa-miR-324-3p hsa-miR-532-3p hsa-miR-1260b hsa-miR-1280 hsa-miR-1260
    SwitchGear 3'UTR luciferase reporter plasmidSREBF2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SREBF2
    Predesigned siRNA for gene silencing in human, mouse, rat SREBF2

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for SREBF2 (see all 8)
    OriGene ORF clones in mouse, rat for SREBF2
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    GenScript: all cDNA clones in your preferred vector: SREBF2 (NM_004599)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SREBF2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SREBF2
    Addgene plasmids for SREBF2 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SREBF2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SRBP2_HUMAN, Q12772: 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
    SRBP2_HUMAN, Q12772: Processed sterol regulatory element-binding protein 2: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    nucleus5
    cytosol4
    extracellular2
    peroxisome2
    endosome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA12941800

    Find genes that share ontologies with SREBF2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SREBF2 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.75
    SREBP signalling0.31
    Activation of Gene Expression by SREBP (SREBF)0.75
    2Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    PPARA Activates Gene Expression0.63
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.65
    Transcriptional Regulation of White Adipocyte Differentiation0.38
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    4L1CAM interactions
    Developmental Biology0.63
    5superpathway of cholesterol biosynthesis
    Cholesterol biosynthesis0.62


    Find genes that share SuperPaths with SREBF2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for SREBF2
        SREBP Proteolysis

    3 BioSystems Pathways for SREBF2
        Cholesterol biosynthesis
    SREBP signalling
    SREBF and miR33 in cholesterol and lipid homeostasis

    4 Reactome Pathways for SREBF2
        Transcriptional regulation of white adipocyte differentiation
    PPARA activates gene expression
    Regulation of cholesterol biosynthesis by SREBP (SREBF)
    Activation of gene expression by SREBF (SREBP)


        Pathway & Disease-focused RT2 Profiler PCR Arrays including SREBF2: 
              Insulin Resistance in human mouse rat
              TGFB Signaling Targets in human mouse rat
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Fatty Liver in human mouse rat
              Unfolded Protein Response in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SREBF2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SREBF2 (Q127721, 2, 3 ENSP000003544764) via UniProtKB, MINT, STRING, and/or I2D (see all 169)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD3P840222, 3, ENSP000003329734MINT-51235 MINT-51233 MINT-51246 I2D: score=5 STRING: ENSP00000332973
    HNF4AP412352, 3, ENSP000003129874MINT-16696 MINT-16697 I2D: score=3 STRING: ENSP00000312987
    SP1P080471, 3, ENSP000003293574EBI-465059,EBI-298336 I2D: score=4 STRING: ENSP00000329357
    UBE2IP632793, ENSP000003248974I2D: score=4 STRING: ENSP00000324897
    ABLIM2Q6H8Q13, ENSP000003935114I2D: score=3 STRING: ENSP00000393511
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA19098903
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006629lipid metabolic process TAS7903453
    GO:0008203cholesterol metabolic process IEA--

    Find genes that share ontologies with SREBF2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SREBF2 (SRBP2)

    Selected Novoseek inferred chemical compound relationships for SREBF2 gene (see all 26)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sterol 95.2 152 16806080 (4), 19706601 (3), 9575211 (3), 11160359 (3) (see all 99)
    3-hydroxy-3-methylglutaryl-coa 82.3 18 16787396 (2), 18602894 (2), 7862668 (1), 19906111 (1) (see all 12)
    cholesterol 80.1 150 11278785 (5), 19582494 (4), 11590226 (4), 16946405 (4) (see all 75)
    squalene 73.3 1 9604010 (1)
    25-hydroxycholesterol 72.3 4 7744865 (2), 17142457 (1), 11590226 (1)
    n-acetylleucylleucylnorleucinal 68.8 4 8060328 (1), 17376415 (1)
    acetyl-coa 68.1 3 12213084 (1), 20138838 (1), 17381980 (1)
    fatty acid 67.3 22 9989262 (2), 11278785 (2), 17066326 (1), 16007182 (1) (see all 13)
    lipid 65.4 29 12801623 (2), 19263511 (2), 11355894 (2), 17632011 (2) (see all 20)
    lovastatin 52 6 17142457 (2), 7862668 (1), 20459026 (1), 11590226 (1) (see all 5)



    Find genes that share compounds with SREBF2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SREBF2 gene: 
    NM_004599.3  

    Unigene Cluster for SREBF2:

    Sterol regulatory element binding transcription factor 2
    Hs.443258  [show with all ESTs]
    Unigene Representative Sequence: BC051385
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361204(uc003bbi.3) ENST00000424354(uc003bbj.3) ENST00000462539
    ENST00000464119 ENST00000491541 ENST00000463741 ENST00000435061 ENST00000490262

    miRNA
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    Block miRNA regulation of human, mouse, rat SREBF2 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate SREBF2:
    hsa-miR-365 hsa-miR-3163 hsa-miR-324-3p hsa-miR-532-3p hsa-miR-1260b hsa-miR-1280 hsa-miR-1260
    SwitchGear 3'UTR luciferase reporter plasmidSREBF2 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector: SREBF2 (NM_004599)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SREBF2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SREBF2
    Addgene plasmids for SREBF2 
    Primer
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    OriGene qPCR primer pairs and template standards for SREBF2
    OriGene qSTAR qPCR primer pairs in human, mouse for SREBF2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SREBF2
      QuantiTect SYBR Green Assays in human, mouse, rat SREBF2
      QuantiFast Probe-based Assays in human, mouse, rat SREBF2

    Additional mRNA sequence: 

    AK129736.1 AK299914.1 AL834221.1 BC051385.1 BC051799.1 BC056158.1 CT841522.1 U02031.1 

    Selected DOTS entries (see all 31):

    DT.450252  DT.95267588  DT.92023952  DT.100831758  DT.100646848  DT.120672024  DT.100045037  DT.92460321 
    DT.92460335  DT.100770996  DT.101982621  DT.206406  DT.215558  DT.97863875  DT.100782354  DT.120672016 
    DT.424490  DT.92460319  DT.95267583  DT.97768022  DT.100701618  DT.100851923  DT.92013805  DT.92460317 

    Selected AceView cDNA sequences (see all 762):

    AW135317 BF438986 CD367368 BM558093 BX439540 AL042766 BU150751 BQ682949 
    BE901949 BU932027 BU194646 AI681424 AI658992 AA339251 BQ685075 BE712757 
    AW196760 BU183873 AI934655 BQ059428 BG912572 BG575303 AL045307 BE712523 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SREBF2 (see all 14)    About this scheme

    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:                                                                                                                                                            

    ExUns: 19a · 19b ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b
    SP1:                                                        -                     
    SP2:                                                                              
    SP3:                          -     -     -                 -                     
    SP4:                          -     -     -                 -                     
    SP5:                                                                              


    ECgene alternative splicing isoforms for SREBF2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SREBF2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCTCCTGAG
    SREBF2 Expression
    About this image

    SREBF2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SREBF2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.443258

    UniProtKB/Swiss-Prot: SRBP2_HUMAN, Q12772
    Tissue specificity: Ubiquitously expressed in adult and fetal tissues

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SREBF2: 
              Insulin Resistance in human mouse rat
              TGFB Signaling Targets in human mouse rat
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Fatty Liver in human mouse rat
              Unfolded Protein Response in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SREBF2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Srebf21 , 5 sterol regulatory element binding factor 21, 5 87.35(n)1
    92.21(a)1
      15 (38.49 cM)5
    207881  NM_033218.11  NP_150087.11 
     821472695 
    chicken
    (Gallus gallus)
    Aves SREBF21 sterol regulatory element binding transcription factor more 76.93(n)
    81.8(a)
      395304  XM_004937701.1  XP_004937758.1 
    lizard
    (Anolis carolinensis)
    Reptilia SREBF26
    sterol regulatory element binding transcription fa...
    82(a)
    1 ↔ 1
    5(26748714-26785410)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.129272 Xenopus laevis transcribed sequence with moderate similarity more 75.56(n)    BJ075412.1 
    zebrafish
    (Danio rerio)
    Actinopterygii srebf21 sterol regulatory element binding transcription factor more 60.75(n)
    55.33(a)
      100037309  NM_001089466.1  NP_001082935.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta HLH1063 transcription factor 33(a)   76C5   --
    worm
    (Caenorhabditis elegans)
    Secernentea sbp-16
    Protein SBP-1 (sbp-1) mRNA, complete cds
    20(a)
    1 → many
    III(11428341-11442566) WBGene00004735


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SREBF2 gene
    SREBF12  
    3 SIMAP similar genes for SREBF2 using alignment to 4 protein entries:     SRBP2_HUMAN (see all proteins):
    SREBF1    DKFZp434N1610    MAX

    Find genes that share paralogs with SREBF2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SREBF2 (see all 1590)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0363944
    A breast cancer sample4--see VAR_0363942 A S mis40--------
    VAR_0363954
    A breast cancer sample4--see VAR_0363952 N K mis40--------
    rs622385571,2
    C,F--42227150(+) CTCCCG/AAAGTG 1 -- us2k12Minor allele frequency- A:0.25NA 4
    rs117032141,2
    C,H--42227247(+) ccaggC/Gtggag 1 -- us2k10--------
    rs1507913511,2
    C--42227336(+) CAGGCA/GTGCGC 1 -- us2k10--------
    rs2009666791,2
    C--42227409(+) GGTCT-/CCCAAC 1 -- us2k10--------
    rs1868585961,2
    --42227545(+) GTATGC/TCAAAG 1 -- us2k10--------
    rs1912904721,2
    --42227558(+) TATGCC/TGAGAG 1 -- us2k10--------
    rs1831405701,2
    --42227595(+) CGAGGC/TCTTTG 1 -- us2k10--------
    rs1878536631,2
    --42227623(+) CCTTTC/GGCTGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SREBF2 (42229106 - 42303312 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SREBF2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv191436CNV Insertion16902084
    nsv508736CNV Insertion20534489
    dgv4980n71CNV Loss21882294
    dgv4979n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): SREBF2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SREBF2
    DNA2.0 Custom Variant and Variant Library Synthesis for SREBF2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600481    OMIM disorders: --

    1 disease for SREBF2:    
    About MalaCards
    avascular necrosis of the femoral head

    1 disease from the University of Copenhagen DISEASES database for SREBF2:
    Fatty liver disease

    Find genes that share disorders with SREBF2           About GenesLikeMe

    8 Novoseek inferred disease relationships for SREBF2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypercholesterolemia 42 5 12829694 (3), 11950857 (1), 16466730 (1)
    hyperlipidemia 23.8 2 15211801 (1)
    atherosclerosis 19 3 12801623 (1), 16466730 (1), 19292868 (1)
    cancer 3.11 4 11149418 (2), 11314036 (1)
    ovarian carcinoma 0 1 10956388 (1)
    tumors 0 1 19533020 (1)
    prostate cancer 0 3 20041144 (2), 11149418 (1)
    obesity 0 2 11278795 (1), 19292868 (1)

    Genetic Association Database (GAD): SREBF2
    Human Genome Epidemiology (HuGE) Navigator: SREBF2 (28 documents)

    Export disorders for SREBF2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SREBF2 gene, integrated from 10 sources (see all 280):
    (articles sorted by number of sources associating them with SREBF2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SREBP-2, a second basic-helix-loop-helix-leucine zipper protein that stimulates transcription by binding to a sterol regulatory element. (PubMed id 7903453)1, 2, 3, 9 Hua X....Wang X. (Proc. Natl. Acad. Sci. U.S.A. 1993)
    2. Interactions among genetic variants from SREBP2 activating-related pathway on risk of coronary heart disease in Chinese Han population. (PubMed id 19740467)1, 4, 9 Liu X....Gu D. (Atherosclerosis 2010)
    3. The sterol-sensing endoplasmic reticulum (ER) membrane protein TRC8 hampers ER to Golgi transport of sterol regulatory element-binding protein-2 (SREBP-2)/SREBP cleavage-activated protein and reduces SREBP-2 cleavage. (PubMed id 19706601)1, 2, 9 Irisawa M.... Sato R. (J. Biol. Chem. 2009)
    4. Significant association of SREBP-2 genetic polymorphisms with avascular necrosis in the Korean population. (PubMed id 18954446)1, 4, 9 Kim T.H....Kim S.Y. (BMC Med. Genet. 2008)
    5. Analysis of the SREBF2 gene as a genetic risk factor for vascular dementia. (PubMed id 16082694)1, 4, 9 Kim Y....Lee C. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2005)
    6. The structure of importin-beta bound to SREBP-2: nuclear import of a transcription factor. (PubMed id 14645851)1, 2, 9 Lee S.J....Yoneda Y. (Science 2003)
    7. 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. (PubMed id 19263511)1, 4, 9 Yaju D....Dezhai Y. (Am. J. Med. Sci. 2009)
    8. Expression of sterol regulatory element-binding transcription factor (SREBF) 2 and SREBF cleavage-activating protein (SCAP) in human atheroma and the association of their allelic variants with sudden cardiac death. (PubMed id 19116028)1, 4, 9 Fan Y.M....LehtimAoki T. (Thromb J 2008)
    9. The effect of sterol regulatory element-binding protein 2 polymorphism on the serum lipid in northern Chinese subjects. (PubMed id 15547298)1, 4, 9 Duan X....Xiao Y. (J. Lipid Res. 2005)
    10. Determinants of variable response to simvastatin treatment: the role of common variants of SCAP, SREBF-1a and SREBF-2 genes. (PubMed id 16158080)1, 4, 9 Fiegenbaum M....Hutz M.H. (Pharmacogenomics J. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6721 HGNC: 11290 AceView: SREBF2 Ensembl:ENSG00000198911 euGenes: HUgn6721
    ECgene: SREBF2 H-InvDB: SREBF2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SREBF2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SREBF2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SREBF2 gene:
    Search GeneIP for patents involving SREBF2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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