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

Gene ID: 20788, updated on 21-Apr-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 and transcription cis-regulatory region binding activity. Involved in positive regulation of pri-miRNA transcription by RNA polymerase II. 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; prostate cancer; type 1 diabetes mellitus; type 2 diabetes mellitus; and vascular dementia. Orthologous to human SREBF2 (sterol regulatory element binding transcription factor 2). [provided by Alliance of Genome Resources, Apr 2022]
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

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)
  • Spontaneous (1) 
  • Gene trapped (2) 
  • Targeted (2)  1 citation
  • Endonuclease-mediated (4) 

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 repressor activity, RNA polymerase II-specific ISO
Inferred from Sequence Orthology
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 ISO
Inferred from Sequence Orthology
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 
acts_upstream_of_or_within cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within lipid metabolic process 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 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 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 storage IBA
Inferred from Biological aspect of Ancestor
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
 
acts_upstream_of_or_within regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
involved_in response to hormone ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within steroid metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus 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 cytoplasmic vesicle IEA
Inferred from Electronic Annotation
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)

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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)