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

Gene ID: 6721, updated on 7-Oct-2018

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; Vega:OTTHUMG00000151261
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

Genomic context

See SREBF2 in Genome Data Viewer
Location:
22q13.2
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (41833079..41907308)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42229083..42303312)

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 coiled-coil domain containing 134 Neighboring gene microRNA 33a Neighboring gene shisa family member 8 Neighboring gene TNF receptor superfamily member 13C Neighboring gene microRNA 378i

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat'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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
ER to Golgi transport vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
Golgi membrane TAS
Traceable Author Statement
more info
 
SREBP-SCAP-Insig complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
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)

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_004599.3NP_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
    Q12772
    UniProtKB/TrEMBL
    A0A024R1Q0
    Related
    ENSP00000354476.4, OTTHUMP00000199514, ENST00000361204.8, OTTHUMT00000321956
    Conserved Domains (1) summary
    pfam00010
    Location:331381
    HLH; Helix-loop-helix DNA-binding domain

RNA

  1. NR_103834.1 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)
    AA035591, AL021453, BC051385, Z99716
    Related
    ENST00000424354.5, OTTHUMT00000321957

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    41833079..41907308
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530347.2XP_011528649.1  sterol regulatory element-binding protein 2 isoform X2

    Conserved Domains (1) summary
    pfam00010
    Location:331381
    HLH; Helix-loop-helix DNA-binding domain
  2. XM_017028921.2XP_016884410.1  sterol regulatory element-binding protein 2 isoform X3

  3. XM_017028922.2XP_016884411.1  sterol regulatory element-binding protein 2 isoform X4

  4. XM_006724310.3XP_006724373.1  sterol regulatory element-binding protein 2 isoform X1

    Conserved Domains (1) summary
    pfam00010
    Location:301351
    HLH; Helix-loop-helix DNA-binding domain

RNA

  1. XR_001755278.2 RNA Sequence

  2. XR_001755276.2 RNA Sequence

  3. XR_001755277.2 RNA Sequence

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