U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 6721, updated on 5-Feb-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (41833105..41907305)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (42311716..42386086)
105.20220307 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 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 
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 
part_of 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 

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_2023_10

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