• Gene id: 6721

Gene Summary

• Gene Symbol: SREBF2   Gene   UCSC   Ensembl
• Aliases: SREBP-2, SREBP2, bHLHd2
• Gene name: sterol regulatory element binding transcription factor 2
• Alternate names: sterol regulatory element-binding protein 2, class D basic helix-loop-helix protein 2,
• Gene location: 22q13.2 (41833104: 41907307)     Exons: 24     NC_000022.11
• Gene summary(Entrez): 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) do
• OMIM: 600481

Protein Summary

• Protein general information: Q12772  
  • Name: Sterol regulatory element binding protein 2 (SREBP 2) (Class D basic helix loop helix protein 2) (bHLHd2) (Sterol regulatory element binding transcription factor 2) [Cleaved into: Processed sterol regulatory element binding protein 2]
  • Length: 1141  
  • Mass: 123688
  • Tissue specificity: Ubiquitously expressed in adult and fetal tissues.
• Sequence:

  MDDSGELGGLETMETLTELGDELTLGDIDEMLQFVSNQVGEFPDLFSEQLCSSFPGSGGSGSSSGSSGSSSSSSN
  GRGSSSGAVDPSVQRSFTQVTLPSFSPSAASPQAPTLQVKVSPTSVPTTPRATPILQPRPQPQPQPQTQLQQQTV
  MITPTFSTTPQTRIIQQPLIYQNAATSFQVLQPQVQSLVTSSQVQPVTIQQQVQTVQAQRVLTQTANGTLQTLAP
  ATVQTVAAPQVQQVPVLVQPQIIKTDSLVLTTLKTDGSPVMAAVQNPALTALTTPIQTAALQVPTLVGSSGTILT
  TMPVMMGQEKVPIKQVPGGVKQLEPPKEGERRTTHNIIEKRYRSSINDKIIELKDLVMGTDAKMHKSGVLRKAID
  YIKYLQQVNHKLRQENMVLKLANQKNKLLKGIDLGSLVDNEVDLKIEDFNQNVLLMSPPASDSGSQAGFSPYSID
  SEPGSPLLDDAKVKDEPDSPPVALGMVDRSRILLCVLTFLCLSFNPLTSLLQWGGAHDSDQHPHSGSGRSVLSFE
  SGSGGWFDWMMPTLLLWLVNGVIVLSVFVKLLVHGEPVIRPHSRSSVTFWRHRKQADLDLARGDFAAAAGNLQTC
  LAVLGRALPTSRLDLACSLSWNVIRYSLQKLRLVRWLLKKVFQCRRATPATEAGFEDEAKTSARDAALAYHRLHQ
  LHITGKLPAGSACSDVHMALCAVNLAECAEEKIPPSTLVEIHLTAAMGLKTRCGGKLGFLASYFLSRAQSLCGPE
  HSAVPDSLRWLCHPLGQKFFMERSWSVKSAAKESLYCAQRNPADPIAQVHQAFCKNLLERAIESLVKPQAKKKAG
  DQEEESCEFSSALEYLKLLHSFVDSVGVMSPPLSRSSVLKSALGPDIICRWWTSAITVAISWLQGDDAAVRSHFT
  KVERIPKALEVTESPLVKAIFHACRAMHASLPGKADGQQSSFCHCERASGHLWSSLNVSGATSDPALNHVVQLLT
  CDLLLSLRTALWQKQASASQAVGETYHASGAELAGFQRDLGSLRRLAHSFRPAYRKVFLHEATVRLMAGASPTRT
  HQLLEHSLRRRTTQSTKHGEVDAWPGQRERATAILLACRHLPLSFLSSPGQRAVLLAEAARTLEKVGDRRSCNDC
  QQMIVKLGGGTAIAAS

• Structural information:
  • Protein Domains: (330..38-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR011598  IPR036638  
  • Prosite: PS50888
  • CDD: cd00083
  • PDB: 1UKL
  • PDBsum: 1UKL
  • DIP: 263
  • STRING: ENSP00000354476
• Other Databases: GeneCards:  SREBF2  Malacards:  SREBF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1903146	regulation of autophagy of mitochondrion	HMP	biological process
GO:1903955	positive regulation of protein targeting to mitochondrion	HMP	biological process
GO:0009267	cellular response to starvation	IMP	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0032933	SREBP signaling pathway	IMP	biological process
GO:0032933	SREBP signaling pathway	IDA	biological process
GO:1902895	positive regulation of pri-miRNA transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0033993	response to lipid	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008593	regulation of Notch signaling pathway	ISS	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0008202	steroid metabolic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006629	lipid metabolic process	TAS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0045540	regulation of cholesterol biosynthetic process	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042632	cholesterol homeostasis	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:1902895	positive regulation of pri-miRNA transcription by RNA polymerase II	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0070888	E-box binding	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0010886	positive regulation of cholesterol storage	IDA	biological process
GO:0090370	negative regulation of cholesterol efflux	IDA	biological process
GO:0071404	cellular response to low-density lipoprotein particle stimulus	IEP	biological process
GO:0071499	cellular response to laminar fluid shear stress	NAS	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0012507	ER to Golgi transport vesicle membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0032937	SREBP-SCAP-Insig complex	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0032937	SREBP-SCAP-Insig complex	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000247	C-8 sterol isomerase activity	IDA	NOT|molecular function
GO:0008022	protein C-terminus binding	IPI	molecular function

Diseases

Associated diseases	References
Prostate cancer	PMID:15026365
Prostate cancer	PMID:15026365
Carotid artery disease	PMID:12801623
Vascular dementia	PMID:16082694
type 2 diabetes mellitus	PMID:15644403
type 1 diabetes mellitus	PMID:18682608
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq