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

Gene ID: 20788, updated on 4-Jan-2025

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, Jan 2025]
Expression
Ubiquitous expression in colon adult (RPKM 72.5), lung adult (RPKM 61.5) and 28 other tissues See more
Orthologs
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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

General gene information

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding PubMed 
enables DNA-binding transcription factor activity PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific  
enables DNA-binding transcription factor activity, RNA polymerase II-specific PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific  
enables DNA-binding transcription factor activity, RNA polymerase II-specific  
enables DNA-binding transcription repressor activity, RNA polymerase II-specific  
enables DNA-binding transcription repressor activity, RNA polymerase II-specific  
enables E-box binding  
enables E-box binding  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding  
enables chromatin binding  
enables protein binding PubMed 
enables protein dimerization activity  
enables sequence-specific DNA binding  
enables sequence-specific double-stranded DNA binding  
enables transcription cis-regulatory region binding PubMed 
Items 1 - 25 of 31
Process Evidence Code Pubs
involved_in SREBP signaling pathway  
involved_in SREBP signaling pathway  
involved_in SREBP signaling pathway  
involved_in cellular response to low-density lipoprotein particle stimulus  
involved_in cellular response to starvation  
involved_in cellular response to starvation  
acts_upstream_of_or_within cholesterol homeostasis PubMed 
involved_in cholesterol metabolic process  
involved_in negative regulation of cholesterol efflux  
acts_upstream_of negative regulation of cholesterol efflux  
involved_in negative regulation of transcription by RNA polymerase II  
involved_in negative regulation of transcription by RNA polymerase II  
involved_in positive regulation of DNA-templated transcription  
involved_in positive regulation of cholesterol biosynthetic process  
involved_in positive regulation of cholesterol biosynthetic process PubMed 
involved_in positive regulation of cholesterol biosynthetic process  
involved_in positive regulation of cholesterol biosynthetic process  
involved_in positive regulation of cholesterol storage  
involved_in positive regulation of cholesterol storage  
acts_upstream_of positive regulation of cholesterol storage  
involved_in positive regulation of miRNA transcription PubMed 
involved_in positive regulation of myelination PubMed 
involved_in positive regulation of transcription by RNA polymerase II  
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II PubMed 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II  
involved_in positive regulation of transcription by RNA polymerase II  
acts_upstream_of_or_within regulation of DNA-templated transcription PubMed 
involved_in regulation of Notch signaling pathway  
involved_in regulation of transcription by RNA polymerase II  
involved_in regulation of transcription by RNA polymerase II  
involved_in response to hormone  
Items 1 - 25 of 31
Component Evidence Code Pubs
located_in ER to Golgi transport vesicle membrane  
located_in Golgi membrane  
part_of SREBP-SCAP-Insig complex  
part_of SREBP-SCAP-Insig complex  
located_in cytoplasm PubMed 
located_in cytoplasm  
located_in dendrite  
located_in endoplasmic reticulum  
located_in intracellular membrane-bounded organelle  
located_in membrane PubMed 
located_in nucleoplasm  
located_in nucleoplasm  
is_active_in nucleus  
located_in nucleus PubMed 
located_in nucleus  

General protein information

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

NCBI Reference Sequences (RefSeq)

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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)
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