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    Srebf2 sterol regulatory element binding factor 2 [ Mus musculus (house mouse) ]

    Gene ID: 20788, updated on 27-Nov-2024

    Summary

    Official Symbol
    Srebf2provided by MGI
    Official Full Name
    sterol regulatory element binding factor 2provided by MGI
    Primary source
    MGI:MGI:107585
    See related
    Ensembl:ENSMUSG00000022463 AllianceGenome:MGI:107585
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    nuc; lop13; SREBP2; bHLHd2; SREBP-2; SREBP2gc
    Summary
    Enables DNA-binding transcription factor activity, RNA polymerase II-specific and transcription cis-regulatory region binding activity. Involved in positive regulation of cholesterol biosynthetic process; positive regulation of miRNA transcription; and positive regulation of myelination. Acts upstream of or within cholesterol homeostasis and positive regulation of transcription by RNA polymerase II. Located in cytoplasm; membrane; and nucleus. Is expressed in several structures, including 1st branchial arch; genitourinary system; limb; nervous system; and retina. Human ortholog(s) of this gene implicated in carotid artery disease; diabetes mellitus (multiple); prostate cancer; sarcoma; and vascular dementia. Orthologous to human SREBF2 (sterol regulatory element binding transcription factor 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in colon adult (RPKM 72.5), lung adult (RPKM 61.5) and 28 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Srebf2 in Genome Data Viewer
    Location:
    15 E1; 15 38.49 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (82031455..82089580)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (82147269..82205379)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_39280 Neighboring gene meiotic double-stranded break formation protein 1 Neighboring gene STARR-seq mESC enhancer starr_39281 Neighboring gene STARR-positive B cell enhancer ABC_E8600 Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:81965919-81966120 Neighboring gene coiled-coil domain containing 134 Neighboring gene STARR-seq mESC enhancer starr_39283 Neighboring gene STARR-positive B cell enhancer ABC_E5500 Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:81996613-81996854 Neighboring gene STARR-seq mESC enhancer starr_39286 Neighboring gene microRNA 33 Neighboring gene STARR-positive B cell enhancer ABC_E2448 Neighboring gene shisa family member 8 Neighboring gene tumor necrosis factor receptor superfamily, member 13c

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    lens opacity 13
    GeneReviews: Not available

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Gene trapped (2) 
    • Spontaneous (1) 
    • Targeted (2)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific ISO
    Inferred from Sequence Orthology
    more info
     
    enables E-box binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables E-box binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables chromatin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables sequence-specific double-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in SREBP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in SREBP signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in SREBP signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to low-density lipoprotein particle stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to starvation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to starvation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cholesterol homeostasis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cholesterol efflux IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of negative regulation of cholesterol efflux ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cholesterol biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cholesterol biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cholesterol biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cholesterol biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cholesterol storage IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of cholesterol storage IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of positive regulation of cholesterol storage ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of miRNA transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of myelination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of Notch signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to hormone ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in ER to Golgi transport vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of SREBP-SCAP-Insig complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of SREBP-SCAP-Insig complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in dendrite ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    sterol regulatory element-binding protein 2
    Names
    sterol regulatory element-binding transcription factor 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001411792.1NP_001398721.1  sterol regulatory element-binding protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC102176, AC105358
    2. NM_033218.2NP_150087.1  sterol regulatory element-binding protein 2 isoform 1

      See identical proteins and their annotated locations for NP_150087.1

      Status: VALIDATED

      Source sequence(s)
      AC102176, AC105358
      Consensus CDS
      CCDS27683.1
      UniProtKB/Swiss-Prot
      Q3U1N2, Q925C2, Q9ESZ4
      Related
      ENSMUSP00000023100.7, ENSMUST00000023100.8
      Conserved Domains (1) summary
      pfam00010
      Location:320370
      HLH; Helix-loop-helix DNA-binding domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000081.7 Reference GRCm39 C57BL/6J

      Range
      82031455..82089580
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)