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

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: mouse all
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Genomic context

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_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
Title: Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
Hyperactivation of SREBP induces pannexin-1-dependent lytic cell death.
Title: Hyperactivation of SREBP induces pannexin-1-dependent lytic cell death.
Human cytomegalovirus infection impairs neural differentiation via repressing sterol regulatory element binding protein 2-mediated cholesterol biosynthesis.
Title: Human cytomegalovirus infection impairs neural differentiation via repressing sterol regulatory element binding protein 2-mediated cholesterol biosynthesis.
A lactate-SREBP2 signaling axis drives tolerogenic dendritic cell maturation and promotes cancer progression.
Title: A lactate-SREBP2 signaling axis drives tolerogenic dendritic cell maturation and promotes cancer progression.
ALOX15B controls macrophage cholesterol homeostasis via lipid peroxidation, ERK1/2 and SREBP2.
Title: ALOX15B controls macrophage cholesterol homeostasis via lipid peroxidation, ERK1/2 and SREBP2.
A single-nucleus transcriptomic atlas of primate liver aging uncovers the pro-senescence role of SREBP2 in hepatocytes.
Title: A single-nucleus transcriptomic atlas of primate liver aging uncovers the pro-senescence role of SREBP2 in hepatocytes.
Enhanced SREBP2-driven cholesterol biosynthesis by PKClambda/iota deficiency in intestinal epithelial cells promotes aggressive serrated tumorigenesis.
Title: Enhanced SREBP2-driven cholesterol biosynthesis by PKCλ/ι deficiency in intestinal epithelial cells promotes aggressive serrated tumorigenesis.
Sterol regulatory element-binding protein 2 maintains glioblastoma stem cells by keeping the balance between cholesterol biosynthesis and uptake.
Title: Sterol regulatory element-binding protein 2 maintains glioblastoma stem cells by keeping the balance between cholesterol biosynthesis and uptake.
Inhibiting sorting nexin 10 promotes mucosal healing through SREBP2-mediated stemness restoration of intestinal stem cells.
Title: Inhibiting sorting nexin 10 promotes mucosal healing through SREBP2-mediated stemness restoration of intestinal stem cells.
LATS-regulated nuclear-cytoplasmic translocation of SREBP2 inhibits hepatocellular carcinoma cell migration and invasion via epithelial-mesenchymal transition.
Title: LATS-regulated nuclear-cytoplasmic translocation of SREBP2 inhibits hepatocellular carcinoma cell migration and invasion via epithelial-mesenchymal transition.

Submit: New GeneRIF Correction See all GeneRIFs (164)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-20973 (e-PCR)
- UniSTS:23553

SHGC-30242 (e-PCR)
- UniSTS:7471

SHGC-12896 (e-PCR)
- UniSTS:85817

WI-12706 (e-PCR)
- UniSTS:54850

SHGC-58081 (e-PCR)
- UniSTS:71494

D22S1563 (e-PCR)
- UniSTS:34643

AL008656 (e-PCR)
- UniSTS:44375

1094 (e-PCR)
- UniSTS:38531

D22S1157 (e-PCR), detects polymorphism
- UniSTS:8849

RH80373 (e-PCR)
- UniSTS:90530

SHGC-12896 (e-PCR)
- UniSTS:38593

RH102651 (e-PCR)
- UniSTS:96985

GDB:592857 (e-PCR)
- UniSTS:157926

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
NOT enables C-8 sterol isomerase 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	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables E-box binding	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
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 double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

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 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
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 more info	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

General protein information

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Preferred Names: sterol regulatory element-binding protein 2

Names: class D basic helix-loop-helix protein 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)

NM_004599.4 → NP_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:331 → 381

HLH; Helix-loop-helix DNA-binding domain

RNA

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

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

41833105..41907305

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0AA34QVX2

Conserved Domains (1) summary

pfam00010
Location:331 → 381

HLH; Helix-loop-helix DNA-binding domain
XM_017028921.3 → XP_016884410.1 sterol regulatory element-binding protein 2 isoform X2

UniProtKB/TrEMBL

B4DSU0
XM_017028922.3 → XP_016884411.1 sterol regulatory element-binding protein 2 isoform X3

RNA

XR_001755276.3 RNA Sequence
XR_001755277.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

42311716..42386086

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054325872.1 → XP_054181847.1 sterol regulatory element-binding protein 2 isoform X1
XM_054325873.1 → XP_054181848.1 sterol regulatory element-binding protein 2 isoform X2
XM_054325874.1 → XP_054181849.1 sterol regulatory element-binding protein 2 isoform X3