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    SREBF2 sterol regulatory element binding transcription factor 2 [ Homo sapiens (human) ]

    Gene ID: 6721, updated on 3-Dec-2024

    Summary

    Official Symbol
    SREBF2provided by HGNC
    Official Full Name
    sterol regulatory element binding transcription factor 2provided by HGNC
    Primary source
    HGNC:HGNC:11290
    See related
    Ensembl:ENSG00000198911 MIM:600481; AllianceGenome:HGNC:11290
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SREBP2; bHLHd2; SREBP-2
    Summary
    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]
    Expression
    Ubiquitous expression in brain (RPKM 36.5), esophagus (RPKM 27.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SREBF2 in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (41833105..41907305)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (42311716..42386086)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42229109..42303309)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene meiotic double-stranded break formation protein 1 Neighboring gene RNA, U6atac small nuclear 22, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19129 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19131 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19133 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42195504-42196490 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13798 Neighboring gene coiled-coil domain containing 134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19136 Neighboring gene NANOG hESC enhancer GRCh37_chr22:42219786-42220287 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42222133-42222639 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42226556-42227096 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42227097-42227636 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42228578-42229234 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13800 Neighboring gene SREBF2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42231025-42231526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42231527-42232026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42242468-42243268 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:42258655-42259155 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13801 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42303627-42304294 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13802 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13803 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13804 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42310379-42311304 Neighboring gene uncharacterized LOC124905125 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19139 Neighboring gene microRNA 33a Neighboring gene shisa family member 8

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Upregulated expression of SREBF2 in Jurkat cells expressing HIV-1 Nef has been confirmed by real-time RT-PCR PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in SREBP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in SREBP signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to laminar fluid shear stress NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to low-density lipoprotein particle stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to starvation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cholesterol homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lipid metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    acts_upstream_of negative regulation of cholesterol efflux IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cholesterol biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cholesterol biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cholesterol storage IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of positive regulation of cholesterol storage IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of miRNA transcription IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of protein targeting to mitochondrion HMP 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 
    involved_in positive regulation of transcription by RNA polymerase II 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 mitophagy HMP PubMed 
    involved_in regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in ER to Golgi transport vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    part_of SREBP-SCAP-Insig complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    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 
    is_active_in nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    sterol regulatory element-binding protein 2
    Names
    class D basic helix-loop-helix protein 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_004599.4NP_004590.2  sterol regulatory element-binding protein 2

      See identical proteins and their annotated locations for NP_004590.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the functional protein.
      Source sequence(s)
      AA035591, AL021453, BC051799, Z99716
      Consensus CDS
      CCDS14023.1
      UniProtKB/Swiss-Prot
      Q05BD5, Q12772, Q6GTH7, Q86V36, Q9UH04
      UniProtKB/TrEMBL
      A0AA34QVX2
      Related
      ENSP00000354476.4, ENST00000361204.9
      Conserved Domains (1) summary
      pfam00010
      Location:331381
      HLH; Helix-loop-helix DNA-binding domain

    RNA

    1. NR_103834.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses multiple alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL021453, BC051385, Z99716
      Related
      ENST00000424354.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      41833105..41907305
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530347.3XP_011528649.1  sterol regulatory element-binding protein 2 isoform X1

      UniProtKB/TrEMBL
      A0AA34QVX2
      Conserved Domains (1) summary
      pfam00010
      Location:331381
      HLH; Helix-loop-helix DNA-binding domain
    2. XM_017028921.3XP_016884410.1  sterol regulatory element-binding protein 2 isoform X2

      UniProtKB/TrEMBL
      B4DSU0
    3. XM_017028922.3XP_016884411.1  sterol regulatory element-binding protein 2 isoform X3

    RNA

    1. XR_001755276.3 RNA Sequence

    2. XR_001755277.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      42311716..42386086
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325872.1XP_054181847.1  sterol regulatory element-binding protein 2 isoform X1

      UniProtKB/TrEMBL
      A0AA34QVX2
    2. XM_054325873.1XP_054181848.1  sterol regulatory element-binding protein 2 isoform X2

      UniProtKB/TrEMBL
      B4DSU0
    3. XM_054325874.1XP_054181849.1  sterol regulatory element-binding protein 2 isoform X3

    RNA

    1. XR_008485411.1 RNA Sequence

    2. XR_008485412.1 RNA Sequence