SREBF2 Gene
protein-coding GIFtS: 64
GCID: GC22P042261
|
|
sterol regulatory element binding transcription factor 2
| |
Aliases
for SREBF2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Sterol Regulatory Element Binding Transcription Factor 21 2 | | Sterol Regulatory Element-Binding Transcription Factor 22 3 | | SREBP21 2 3 | | SREBP-22 3 | | BHLHd21 | | Sterol Regulatory Element-Binding Protein 22 | | Class D Basic Helix-Loop-Helix Protein 22 3 | | BHLHD23 |
Export aliases for SREBF2 gene to outside databasesPrevious GC identifers: GC22P038843 GC22P040473 GC22P040474 GC22P040475 GC22P040553 GC22P042230 GC22P025194 GC22P042231 GC22P042244 |
Summaries
for SREBF2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for SREBF2:
This gene encodes a ubiquitously expressed transcription factor that controls cholesterol homeostasis by stimulatingtranscription of sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper(bHLH-Zip) domain. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: SRBP2_HUMAN, Q12772Function: Transcriptional activator required for lipid homeostasis. Regulates transcription of the LDL receptor gene aswell as the cholesterol and to a lesser degree the fatty acid synthesis pathway (By similarity). Binds the sterolregulatory element 1 (SRE-1) (5'-ATCACCCCAC-3') found in the flanking region of the LDRL and HMG-CoA synthase genes
Gene Wiki entry for SREBF2
|
Genomic Views
for SREBF2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000022.10 NC_018933.1 NT_011520.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the SREBF2 gene promoter:
GR CREB deltaCREB STAT5A GR-alpha LCR-F1 ATF6 C/EBPalpha
Other transcription factors
Search SABiosciences Chromatin IP Primers for SREBF2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SREBF2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 22q13 Ensembl cytogenetic band: 22q13.2 HGNC cytogenetic band: 22q13.2SREBF2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 22 GeneLoc Exon Structure GeneLoc location for GC22P042261: view genomic region
(about GC identifiers)
Start:
|
42,229,106 bp from pter |
End:
|
42,303,312 bp from pter |
Size:
|
74,207 bases |
Orientation:
|
plus strand |
|
Proteins
for SREBF2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: SRBP2_HUMAN, Q12772 (See
protein sequence)Recommended Name: Sterol regulatory element-binding protein 2 Size: 1141 amino acids; 123688 Da
Subunit: Forms a tight complex with SCAP in the ER membrane. Efficient DNA binding of the soluble transcription factorfragment requires dimerization with another bHLH protein. Interacts with LMNA. Component of SCAP/SREBP complexcomposed of SREBF2, SCAP and RNF139; the complex hampers the interaction between SCAP and SEC24B, thereby reducingSREBF2 proteolytic processing. Interacts (via C-terminus domain) with RNF139
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-passmembrane protein. Cytoplasmic vesicle, COPII-coated vesicle membrane; Multi-pass membrane protein. Note=Moves from theendoplasmic reticulum to the Golgi in the absence of sterols
Subcellular location: Processed sterol regulatory element-binding protein 2: Nucleus
Sequence caution: Sequence=AAH51799.1; Type=Erroneous initiation;
1 PDB 3D structure from  and Proteopedia  for SREBF2:1UKL (3D)
Secondary accessions: Q6GTH7 Q86V36 Q9UH04Explore the universe of human proteins at neXtProt for SREBF2: NX_Q12772
Post-translational modifications:
At low cholesterol the SCAP/SREBP complex is recruited into COPII vesicles for export from the ER. In the Golgi complexSREBPs are cleaved sequentially by site-1 and site-2 protease. The first cleavage by site-1 protease occurs within theluminal loop, the second cleavage by site-2 protease occurs within the first transmembrane domain and releases thetranscription factor from the Golgi membrane. Apoptosis triggers cleavage by the cysteine proteases caspase-3 andcaspase-71
Phosphorylated by AMPK, leading to suppress protein processing and nuclear translocation, and repress target geneexpression (By similarity)1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q12772
SREBF2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_004590.2
ENSEMBL proteins: ENSP00000354476 ENSP00000395728 ENSP00000412287 Reactome Protein details: Q12772
Human Recombinant Protein Products:
Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table
SREBF2 for ontologies About GeneDecksing
SREBF2 Antibody Products:
Assay Products for SREBF2: |
Protein
Domains /
Families
for SREBF2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SREBF2 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q12772ProtoNet protein and cluster: Q12772 1 Blocks protein family: IPB001092 Basic helix-loop-helix dimerization domain bHLH
UniProtKB/Swiss-Prot: SRBP2_HUMAN, Q12772Similarity: Belongs to the SREBP familySimilarity: Contains 1 bHLH (basic helix-loop-helix) domain |
Function
for SREBF2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: SRBP2_HUMAN, Q12772Function: Transcriptional activator required for lipid homeostasis. Regulates transcription of the LDL receptor gene aswell as the cholesterol and to a lesser degree the fatty acid synthesis pathway (By similarity). Binds the sterolregulatory element 1 (SRE-1) (5'-ATCACCCCAC-3') found in the flanking region of the LDRL and HMG-CoA synthase genes Genatlas biochemistry entry for SREBF2:sterol regulatory element binding protein 2,controlling cholesterol homeostasis
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SREBF2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SREBF2 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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| |  | GenScript: all cDNA clones in your preferred vector: SREBF2 (NM_004599) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SREBF2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SREBF2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SREBF2 |
Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11): About this table
SREBF2 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for SREBF2:
Animal Models:
5 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Srebf2):
SREBF2 for phenotypes About GeneDecksing
|
Pathways & Interactions
for SREBF2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Expression of Mevalonate Kinase (MVK) | | | 2 | SREBP1A/1C/2 is retained in the endoplasmic reticulum by SCAP:cholesterol:INSIG | | | 3 | Expression of Lathosterol Oxidase (SC5D, SC5DL) | | | 4 | Expression of ELOVL6 | | | 5 | Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SREBF2
1  BioSystems Pathway for SREBF2
5/32 
Reactome Pathways for SREBF2 (see all 32)
SREBF2 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SREBF2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/140 Interacting proteins for SREBF2 (Q127721, 2, 3 ENSP000003544764) via UniProtKB, MINT, STRING, and/or I2D (see all 140)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| SMAD3 | P840221, 2, 3, ENSP000003329734 | EBI-465059,EBI-1965323 MINT-51235 MINT-51233 MINT-51246 I2D:
score=5 STRING: ENSP00000332973 | | HNF4A | P412352, 3, ENSP000003129874 | MINT-16696 MINT-16697 I2D:
score=3 STRING: ENSP00000312987 | | SP1 | P080471, 3, ENSP000003293574 | EBI-465059,EBI-298336 I2D:
score=4 STRING: ENSP00000329357 | | UBE2I | P632793, ENSP000003248974 | I2D:
score=4 STRING: ENSP00000324897 | | ABLIM1 | O146393, ENSP000003381904 | I2D:
score=3 STRING: ENSP00000338190 |
About this table
Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20): About this table
SREBF2 for ontologies About GeneDecksing
|
Drugs & Compounds
for SREBF2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
SREBF2 for compounds About GeneDecksing
 Browse Tocris compounds for SREBF2
10/26 Novoseek chemical compound relationships for SREBF2 gene (see all 26) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| sterol |
95.2 |
152 |
16806080 (4), 19706601 (3), 9575211 (3), 11160359 (3) (see all 99) |
| 3-hydroxy-3-methylglutaryl-coa |
82.3 |
18 |
16787396 (2), 18602894 (2), 7862668 (1), 19906111 (1) (see all 12) |
| cholesterol |
80.1 |
150 |
11278785 (5), 19582494 (4), 11590226 (4), 16946405 (4) (see all 75) |
| squalene |
73.3 |
1 |
9604010 (1) |
| 25-hydroxycholesterol |
72.3 |
4 |
7744865 (2), 17142457 (1), 11590226 (1) |
| n-acetylleucylleucylnorleucinal |
68.8 |
4 |
8060328 (1), 17376415 (1) |
| acetyl-coa |
68.1 |
3 |
12213084 (1), 20138838 (1), 17381980 (1) |
| fatty acid |
67.3 |
22 |
9989262 (2), 11278785 (2), 17066326 (1), 16007182 (1) (see all 13) |
| lipid |
65.4 |
29 |
12801623 (2), 19263511 (2), 11355894 (2), 17632011 (2) (see all 20) |
| lovastatin |
52 |
6 |
17142457 (2), 7862668 (1), 20459026 (1), 11590226 (1) (see all 5) |
Search CenterWatch for drugs/clinical trials and news about SREBF2 / SRBP2
|
Transcripts
for SREBF2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for SREBF2 gene: NM_004599.2 Unigene Cluster for SREBF2: Sterol regulatory element binding transcription factor 2 Hs.443258 [show with all ESTs]Unigene Representative Sequence: BC0513858 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000361204(uc003bbi.3) ENST00000424354(uc003bbj.3) ENST00000462539
ENST00000464119 ENST00000491541 ENST00000463741 ENST00000435061 ENST00000490262
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SREBF2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SREBF2 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: SREBF2 (NM_004599) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SREBF2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SREBF2 |
Additional cDNA sequence: AK129736.1 AK299914.1 AL834221.1 BC051385.1 BC051799.1 BC056158.1 CT841522.1 U02031.1 24/31 DOTS entries (see all 31): DT.450252 DT.95267588 DT.92023952 DT.100831758 DT.100646848 DT.120672024 DT.100045037 DT.92460321 DT.92460335 DT.100770996 DT.101982621 DT.206406 DT.215558 DT.97863875 DT.100782354 DT.120672016 DT.424490 DT.92460319 DT.95267583 DT.97768022 DT.100701618 DT.100851923 DT.92013805 DT.92460317 24/762 AceView cDNA sequences (see all 762): AA507397 AI217455 AI144239 CA454262 BQ685075 AU102450 BX439540 BU162863 BP381782 BM849869 CR601152 BF476435 CR590934 BM712894 BQ436426 BF814115 BG014006 BE890210 BU542895 BQ680028 CD367368 AA834906 BU932101 BQ064914
GeneLoc Exon Structure
5/14 Alternative Splicing Database (ASD) splice patterns (SP) for SREBF2 (see all 14) About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11 | ^ | 12a | · | 12b | · | 12c | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | · | 18c | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | | - | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 19a | · | 19b | ^ | 20a | · | 20b | ^ | 21 | ^ | 22a | · | 22b | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27a | · | 27b |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | - | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | - | | - | | - | | | | | | - | | | | | | | | |
| SP4: | | | | | | | | | - | | - | | - | | | | | | - | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for SREBF2
|
Expression
for SREBF2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| SREBF2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCTCCTGAG
About this image
See SREBF2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SREBF2
SOURCE GeneReport for Unigene cluster: Hs.443258
UniProtKB/Swiss-Prot: SRBP2_HUMAN, Q12772Tissue specificity: Ubiquitously expressed in adult and fetal tissues
SABiosciences Expression via Pathway-Focused PCR Arrays including SREBF2:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SREBF2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SREBF2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SREBF2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SREBF2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SREBF2 |
Orthologs
for SREBF2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for SREBF2 gene from 7/20 species (see all 20) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Srebf21 , 5 |
sterol regulatory element binding factor 21, 5 |
87.61(n)1
92.65(a)1 |
|
15 (38.49 cM)5
207881 NM_033218.11 NP_150087.11
821472695 |
chicken
(Gallus gallus) |
Aves |
SREBF21 |
sterol regulatory element binding transcription factor more |
77.24(n)
82.18(a) |
|
395304 XM_416222.3 XP_416222.3 |
lizard
(Anolis carolinensis) |
Reptilia |
SREBF26 |
-- |
82(a) |
1 ↔ 1 |
5(26749269-26782086) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.129272 |
Xenopus laevis transcribed sequence with moderate similarity more |
75.56(n) |
|
BJ075412.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
srebf21 |
sterol regulatory element binding transcription factor more |
60.62(n)
55.37(a) |
|
100037309 NM_001089466.1 NP_001082935.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
HLH1063 |
transcription factor |
33(a) |
|
76C5 -- |
worm
(Caenorhabditis elegans) |
Secernentea |
sbp-16 |
Sterol regulatory element Binding Protein family m... |
19(a) |
1 → many |
III(11428241-11442466) |
ENSEMBL Gene Tree for SREBF2 (if available)
TreeFam Gene Tree for SREBF2 (if available) |
Paralogs
for SREBF2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for SREBF2 gene
- SREBF12
5 SIMAP similar genes for SREBF2 using alignment to 4 protein entries: SRBP2_HUMAN (see all proteins):SREBF1 DKFZp434N1610 MAX SREBP-1a (delta) SREBP-1c (delta)
SREBF2 for paralogs About GeneDecksing
|
Genomic Variants
for SREBF2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 22 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for SREBF2 (42229106 - 42303312 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SREBF2: --
Human Gene Mutation Database (HGMD): SREBF2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SREBF2 |
|
Disorders
/ Diseases
for SREBF2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SREBF2 for disorders About GeneDecksing
OMIM gene information: 600481
OMIM disorders: --
20/35  diseases for SREBF2 (see all 35): About MalaCardscongenital generalized lipodystrophy traumatic brain injury cholesterol brain injury
fatty liver disease coronary heart disease lipodystrophy gestational diabetes
vascular dementia wilson disease insulin resistance hyperlipidemia
hypercholesterolemia myocardial infarction liver disease adrenoleukodystrophy
diabetes mellitus dementia kidney disease hepatoblastoma
1 disease from the University of Copenhagen DISEASES database for SREBF2:Fatty liver disease 8 Novoseek disease relationships for SREBF2 gene About this table
Genetic Association Database (GAD): SREBF2
Human Genome Epidemiology (HuGE) Navigator: SREBF2 (28 documents)
Export disorders for SREBF2 gene to outside databases
|
Publications
for SREBF2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for SREBF2 gene, integrated from 9 sources (see all 269):
(articles sorted by number of sources associating them with SREBF2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- SREBP-2, a second basic-helix-loop-helix-leucine zipper protein that stimulates transcription by binding to a sterol regulatory element. (PubMed id 7903453)1, 2, 3, 9 Hua X....Wang X. (1993)
- The sterol-sensing endoplasmic reticulum (ER) membran e protein TRC8 hampers ER to Golgi transport of sterol regulatory element-bindi ng protein-2 (SREBP-2)/SREBP cleavage-activated protein and reduces SREBP-2 cle avage. (PubMed id 19706601)1, 2, 9 Irisawa M....Sato R. (2009)
- Analysis of the SREBF2 gene as a genetic risk factor for vascular dementia. (PubMed id 16082694)1, 4, 9 Kim Y....Lee C. (2005)
- The structure of importin-beta bound to SREBP-2: nuclear import of a transcription factor. (PubMed id 14645851)1, 2, 9 Lee S.J....Yoneda Y. (2003)
- The effect of sterol regulatory element-binding protein 2 polymorphism on the serum lipid in northern Chinese subjects. (PubMed id 15547298)1, 4, 9 Duan X....Xiao Y. (2005)
- Determinants of variable response to simvastatin treatment: the role of common variants of SCAP, SREBF-1a and SREBF-2 genes. (PubMed id 16158080)1, 4, 9 Fiegenbaum M....Hutz M.H. (2005)
- [Relations between polymorphism of sterol regulatory element binding protein-2 gene and hyperlipidemia in the Han ethics of China] (PubMed id 15211801)1, 4, 9 Duan X....Dao J. (2004)
- Regulated cleavage of sterol regulatory element binding proteins requires sequences on both sides of the endoplasmic reticulum membrane. (PubMed id 8626610)1, 2, 9 Hua X.... Goldstein J.L. (1996)
- A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
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External Searches for SREBF2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing SREBF2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing SREBF2 gene
(According to HUGE)
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Specialized Databases showing SREBF2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Patent Information for SREBF2 gene:
Search GeneIP for patents involving SREBF2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for SREBF2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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