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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SREBF2 Gene

protein-coding   GIFtS: 66
GCID: GC22P042273

Sterol Regulatory Element Binding Transcription Factor 2

Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 congenital generalized lipodystrophy, and vascular dementia, and among its related super-pathways are Activation of Gene Expression by SREBP (SREBF) and Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.2  NT_011520.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SREBF2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC22P042273:  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: 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
Subcellular location: Processed sterol regulatory element-binding protein 2: Nucleus
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:

  • UniProtKB: 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
  • UniProtKB: Phosphorylated by AMPK, leading to suppress protein processing and nuclear translocation, and repress target gene
    expression (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q12772

  • SREBF2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SREBF2 Protein Expression
    REFSEQ proteins: NP_004590.2  
    ENSEMBL proteins: 
     ENSP00000354476   ENSP00000395728   ENSP00000412287  
    Reactome Protein details: Q12772
    Human Recombinant Protein Products for SREBF2: 
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    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005634nucleus IDA12202038
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IDA12941800
    GO:0005783endoplasmic reticulum IDA12202038

    SREBF2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    SREBF2 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/9 molecular function terms (GO ID links to tree view) (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
         
    SREBF2 for ontologies           About GeneDecksing


    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 

    SREBF2 for phenotypes           About GeneDecksing

    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SREBF2 
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    SwitchGear 3'UTR luciferase reporter plasmidSREBF2 3' UTR sequence
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SREBF2 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.67
    SREBP signalling0.37
    Activation of Gene Expression by SREBP (SREBF)0.67
    2Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.74
    Fatty acid, triacylglycerol, and ketone body metabolism0.52
    PPARA Activates Gene Expression0.74
    3Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    4cholesterol biosynthesis III (via desmosterol)
    Cholesterol biosynthesis0.62
    5Chks in Checkpoint Regulation
    SREBP Proteolysis0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

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

    5/7        Reactome Pathways for SREBF2 (see all 7)
        Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Metabolism
    PPARA Activates Gene Expression
    Activation of Gene Expression by SREBP (SREBF)
    Fatty acid, triacylglycerol, and ketone body metabolism



    SREBF2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SREBF2

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

    5/141 Interacting proteins for SREBF2 (Q127721, 2, 3 ENSP000003544764) via UniProtKB, MINT, STRING, and/or I2D (see all 141)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD3P840221, 2, 3, ENSP000003329734EBI-465059,EBI-347161 MINT-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): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

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

    SREBF2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SREBF2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SREBF2 (SRBP2)

    10/26 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)

    Search CenterWatch for drugs/clinical trials and news about SREBF2 / SRBP2

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    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

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

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

    24/31 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 

    24/762 AceView cDNA sequences (see all 762):

    BU931650 AW196760 BQ062230 BG014006 BQ936344 BM564460 BQ682949 BU150751 
    AL834221 BM557690 BE712523 BU190779 BP381782 BG912572 AA035591 BE645665 
    BE890210 BE712662 BE712757 BM761184 BM770610 BU728022 AI434305 BM805222 

    GeneLoc Exon Structure

    5/14 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See SREBF2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SREBF2

    SOURCE GeneReport for Unigene cluster: Hs.443258

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including SREBF2: 
              Insulin Resistance in human mouse rat
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              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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SREBF2 gene from 7/15 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 87.61(n)1
    92.65(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 77.24(n)
    82.18(a)
      395304  XM_416222.3  XP_416222.3 
    lizard
    (Anolis carolinensis)
    Reptilia SREBF26
    Uncharacterized protein
    81(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 60.62(n)
    55.37(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
    18(a)
    1 → many
    III(11428341-11442566)


    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)
    About This Section
    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

    SREBF2 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1590 SNPs in SREBF2 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600481    OMIM disorders: --

    20/34 diseases for SREBF2 (see all 34):    About MalaCards
    congenital generalized lipodystrophy    vascular dementia    wilson disease    lipodystrophy
    traumatic brain injury    adrenoleukodystrophy    brain injury    gestational diabetes
    fatty liver disease    hypercholesterolemia    familial hypercholesterolemia    hepatoblastoma
    dementia    liver disease    atherosclerosis    coronary heart disease
    cytochrome p450    kidney disease    insulin resistance    myocardial infarction

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

    SREBF2 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for SREBF2 gene, integrated from 9 sources (see all 276):
    (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. (1993)
    2. Interactions among genetic variants from SREBP2 activ ating-related pathway on risk of coronary heart disease in Chinese Han populati on. (PubMed id 19740467)1, 4, 9 Liu X....Gu D. (2010)
    3. The sterol-sensing endoplasmic reticulum (ER) membran e protein TRC8 hampers ER to Golgi transport of sterol regulatory element-bindi ng protein-2 (SREBP-2)/SREBP cleavage-activated protein and reduces SREBP-2 cle avage. (PubMed id 19706601)1, 2, 9 Irisawa M....Sato R. (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. (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. (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. (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. (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. (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. (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. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 6721 HGNC: 11290 AceView: SREBF2 Ensembl:ENSG00000198911 euGenes: HUgn6721
    ECgene: SREBF2 H-InvDB: SREBF2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    About This Section

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