SREBF2 (sterol regulatory element binding transcription factor 2) - Rat Genome Database

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Gene: SREBF2 (sterol regulatory element binding transcription factor 2) Homo sapiens
Analyze
Symbol: SREBF2
Name: sterol regulatory element binding transcription factor 2
RGD ID: 730972
HGNC Page HGNC
Description: Enables DNA-binding transcription repressor activity, RNA polymerase II-specific; E-box binding activity; and protein C-terminus binding activity. Involved in several processes, including SREBP signaling pathway; cellular response to low-density lipoprotein particle stimulus; and positive regulation of cholesterol biosynthetic process. Acts upstream of or within positive regulation of transcription by RNA polymerase II. Located in endoplasmic reticulum and nucleoplasm. Part of SREBP-SCAP-Insig complex. Implicated in carotid artery disease; prostate cancer; type 1 diabetes mellitus; type 2 diabetes mellitus; and vascular dementia. Biomarker of prostate cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: bHLHd2; class D basic helix-loop-helix protein 2; SREBP-2; SREBP2; sterol regulatory element-binding protein 2; sterol regulatory element-binding transcription factor 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2241,833,079 - 41,907,307 (+)EnsemblGRCh38hg38GRCh38
GRCh382241,833,105 - 41,907,308 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372242,229,109 - 42,303,309 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,559,052 - 40,632,321 (+)NCBINCBI36hg18NCBI36
Build 342240,553,605 - 40,626,873NCBI
Celera2226,035,175 - 26,108,609 (+)NCBI
Cytogenetic Map22q13.2NCBI
HuRef2225,194,635 - 25,269,011 (+)NCBIHuRef
CHM1_12242,189,135 - 42,263,520 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (ISO)
(R)-mevalonic acid  (EXP,ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dichloropropan-2-ol  (EXP,ISO)
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
25-hydroxycholesterol  (EXP)
5-fluorouracil  (EXP)
acetamide  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alliin  (EXP)
allopurinol  (EXP,ISO)
alpha-pinene  (EXP)
amitriptyline  (EXP)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
aristolochic acid  (EXP)
aspartame  (ISO)
atorvastatin calcium  (EXP,ISO)
atrazine  (EXP)
benzalkonium chloride  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-cyclodextrin  (EXP)
bezafibrate  (EXP)
bisphenol A  (EXP,ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
caffeine  (EXP,ISO)
carbamazepine  (EXP)
carbon nanotube  (EXP,ISO)
CGS-21680  (EXP)
chlorpromazine  (EXP)
cholesterol  (EXP,ISO)
choline  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
citalopram  (EXP)
clofibrate  (ISO)
clomipramine  (EXP)
clozapine  (EXP)
cobalt dichloride  (EXP)
colforsin daropate hydrochloride  (EXP)
crizotinib  (EXP)
CU-O LINKAGE  (EXP)
curcumin  (ISO)
cyclosporin A  (EXP)
D-glucose  (EXP,ISO)
DDT  (ISO)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
dicrotophos  (EXP)
dinophysistoxin 1  (EXP)
dorsomorphin  (EXP,ISO)
doxorubicin  (EXP)
elemental selenium  (EXP)
ethanol  (ISO)
ezetimibe  (EXP)
fenarimol  (ISO)
fenvalerate  (ISO)
fisetin  (EXP)
Ganoderic acid A  (EXP,ISO)
geraniol  (EXP)
glafenine  (ISO)
glucose  (EXP,ISO)
glyphosate  (ISO)
haloperidol  (EXP)
herbacetin  (ISO)
hydrogen peroxide  (EXP,ISO)
imipramine  (EXP)
ketoconazole  (ISO)
L-ascorbic acid  (EXP,ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
lead nitrate  (ISO)
linalool  (EXP,ISO)
lipopolysaccharide  (EXP,ISO)
lovastatin  (EXP,ISO)
mercury dichloride  (EXP)
metformin  (EXP,ISO)
mevastatin  (ISO)
microcystin-LR  (ISO)
mono(2-ethylhexyl) phthalate  (EXP)
Monobutylphthalate  (ISO)
monocrotophos  (ISO)
monosodium L-glutamate  (ISO)
myricetin  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP)
obeticholic acid  (EXP,ISO)
okadaic acid  (EXP)
olanzapine  (EXP,ISO)
ozone  (EXP,ISO)
p-chloromercuribenzoic acid  (EXP)
p-menthan-3-ol  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
permethrin  (ISO)
phenylpropanolamine  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
pirinixic acid  (ISO)
propiconazole  (ISO)
quercetin  (EXP,ISO)
quercetin 3-O-beta-D-glucofuranoside  (EXP)
quercetin 3-O-beta-D-glucopyranoside  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP)
simvastatin  (EXP,ISO)
sodium arsenate  (ISO)
Soman  (ISO)
streptozocin  (ISO)
sulindac sulfide  (EXP)
sunitinib  (EXP)
testosterone  (ISO)
thioacetamide  (ISO)
tributyl phosphate  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
troglitazone  (EXP)
tungsten  (ISO)
tunicamycin  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. Boizard M, etal., J Biol Chem. 1998 Oct 30;273(44):29164-71.
2. Chmielewski M, etal., Atherosclerosis. 2007 Apr;191(2):326-32. Epub 2006 Jun 30.
3. Cho EJ, etal., J Pharm Pharmacol. 2007 May;59(5):687-94.
4. Duan X, etal., J Lipid Res. 2005 Feb;46(2):252-7. Epub 2004 Nov 16.
5. Ettinger SL, etal., Cancer Res. 2004 Mar 15;64(6):2212-21.
6. Freed-Pastor WA and Prives C, Genes Dev. 2012 Jun 15;26(12):1268-86. doi: 10.1101/gad.190678.112.
7. GOA_HUMAN data from the GO Consortium
8. Ishikawa M, etal., J Lipid Res. 2008 Dec;49(12):2524-34. Epub 2008 Aug 5.
9. Jiang T, etal., J Am Soc Nephrol. 2005 Aug;16(8):2385-94. Epub 2005 Jun 8.
10. Jiang T, etal., Kidney Int. 2005 Dec;68(6):2608-20.
11. Kim HJ and Vaziri ND, Am J Nephrol. 2009 Jan 16;29(6):607-614.
12. Kim JH and Ong WY, J Chem Neuroanat. 2009 Mar;37(2):71-7. Epub 2008 Dec 13.
13. Kim Y, etal., Am J Med Genet B Neuropsychiatr Genet. 2005 Nov 5;139(1):19-22.
14. MacLean PS, etal., J Clin Endocrinol Metab. 2005 Apr;90(4):2250-8. Epub 2005 Jan 11.
15. Marseille-Tremblay C, etal., Mol Reprod Dev. 2008 Jun;75(6):1054-62.
16. Muller PA and Vousden KH, Nat Cell Biol. 2013 Jan;15(1):2-8. doi: 10.1038/ncb2641.
17. Muller PY and Miserez AR, J Med Genet. 2002 Apr;39(4):271-5.
18. Osborne TF and Espenshade PJ, Genes Dev. 2009 Nov 15;23(22):2578-91.
19. Pallottini V, etal., J Cell Biochem. 2006 Aug 1;98(5):1044-53.
20. Proctor G, etal., Diabetes. 2006 Sep;55(9):2502-9.
21. RGD automated import pipeline for gene-chemical interactions
22. Robinet P, etal., Atherosclerosis. 2003 Jun;168(2):381-7.
23. Wang Z, etal., Diabetes. 2005 Aug;54(8):2328-35.
24. Wu J, etal., Am J Physiol. 1999 Dec;277(6 Pt 1):E1087-94.
25. Xu G, etal., Biochim Biophys Acta. 2004 Apr 5;1688(3):274-9.
Additional References at PubMed
PMID:7759101   PMID:7903453   PMID:8402897   PMID:8605870   PMID:8626610   PMID:8643593   PMID:8900111   PMID:8918891   PMID:9070916   PMID:9139737   PMID:9242699   PMID:9508001  
PMID:9927745   PMID:9990022   PMID:10397761   PMID:10591208   PMID:10619424   PMID:10627507   PMID:10896675   PMID:10976766   PMID:11149418   PMID:11283257   PMID:11485982   PMID:12202038  
PMID:12242332   PMID:12446768   PMID:12477932   PMID:12615929   PMID:12842885   PMID:12855700   PMID:12941800   PMID:14500290   PMID:14645851   PMID:14702039   PMID:14765107   PMID:14988395  
PMID:15085196   PMID:15211801   PMID:15358760   PMID:15388640   PMID:15461802   PMID:15489334   PMID:15527767   PMID:15721010   PMID:15798184   PMID:16014965   PMID:16141315   PMID:16158080  
PMID:16169070   PMID:16227610   PMID:16303770   PMID:16335799   PMID:16466730   PMID:16697011   PMID:16763159   PMID:16799563   PMID:16806233   PMID:16901265   PMID:17008555   PMID:17142457  
PMID:17198935   PMID:17283069   PMID:17383658   PMID:17604677   PMID:17702963   PMID:17921436   PMID:18032389   PMID:18072016   PMID:18195716   PMID:18272927   PMID:18321953   PMID:18403372  
PMID:18579430   PMID:18660489   PMID:18936756   PMID:18954446   PMID:18959802   PMID:19041766   PMID:19056482   PMID:19098903   PMID:19116028   PMID:19155782   PMID:19231010   PMID:19263511  
PMID:19274049   PMID:19323650   PMID:19460711   PMID:19497963   PMID:19550366   PMID:19582494   PMID:19706601   PMID:19740467   PMID:19906111   PMID:19913121   PMID:19948975   PMID:20031551  
PMID:20111910   PMID:20138239   PMID:20144195   PMID:20167577   PMID:20211142   PMID:20379614   PMID:20450493   PMID:20460578   PMID:20466882   PMID:20566875   PMID:20628086   PMID:20732877  
PMID:20734064   PMID:20926756   PMID:20936779   PMID:20965718   PMID:20980003   PMID:21613400   PMID:21757058   PMID:21873635   PMID:21944868   PMID:21988832   PMID:22153697   PMID:22182810  
PMID:22265415   PMID:22288532   PMID:22425645   PMID:22429355   PMID:22573382   PMID:22573671   PMID:22662110   PMID:22666465   PMID:23044239   PMID:23102786   PMID:23158139   PMID:23454642  
PMID:23825667   PMID:23838163   PMID:24217618   PMID:24321096   PMID:24353279   PMID:24382701   PMID:24478315   PMID:24496149   PMID:24868893   PMID:24908080   PMID:24912190   PMID:24992162  
PMID:25005769   PMID:25028659   PMID:25056061   PMID:25188917   PMID:25201120   PMID:25339898   PMID:25368385   PMID:25488447   PMID:25550450   PMID:25733328   PMID:25914460   PMID:25933205  
PMID:25998247   PMID:26028026   PMID:26186194   PMID:26302339   PMID:26321664   PMID:26512780   PMID:26514267   PMID:26535009   PMID:26728456   PMID:26855332   PMID:26883200   PMID:26984409  
PMID:27614840   PMID:27703009   PMID:27771555   PMID:27778136   PMID:27841945   PMID:28173150   PMID:28218735   PMID:28249167   PMID:28367087   PMID:28473536   PMID:28514442   PMID:28611215  
PMID:28676202   PMID:28696297   PMID:28901487   PMID:28920951   PMID:28986522   PMID:29336468   PMID:29449559   PMID:29466876   PMID:29503034   PMID:29507755   PMID:29601949   PMID:29678744  
PMID:29712938   PMID:30195495   PMID:30366764   PMID:30394316   PMID:30579780   PMID:30631154   PMID:30718857   PMID:31073040   PMID:31417158   PMID:31432128   PMID:31455613   PMID:31490983  
PMID:31664866   PMID:31744820   PMID:31827541   PMID:31846498   PMID:32028704   PMID:32054686   PMID:32296183   PMID:32513696   PMID:32694731   PMID:32883951   PMID:33106423   PMID:33156328  
PMID:33605122   PMID:33961781   PMID:34021134   PMID:34347016  


Genomics

Comparative Map Data
SREBF2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2241,833,079 - 41,907,307 (+)EnsemblGRCh38hg38GRCh38
GRCh382241,833,105 - 41,907,308 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372242,229,109 - 42,303,309 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,559,052 - 40,632,321 (+)NCBINCBI36hg18NCBI36
Build 342240,553,605 - 40,626,873NCBI
Celera2226,035,175 - 26,108,609 (+)NCBI
Cytogenetic Map22q13.2NCBI
HuRef2225,194,635 - 25,269,011 (+)NCBIHuRef
CHM1_12242,189,135 - 42,263,520 (+)NCBICHM1_1
Srebf2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391582,031,470 - 82,089,580 (+)NCBIGRCm39mm39
GRCm39 Ensembl1582,031,382 - 82,089,580 (+)Ensembl
GRCm381582,147,269 - 82,205,379 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1582,147,181 - 82,205,379 (+)EnsemblGRCm38mm10GRCm38
MGSCv371581,977,699 - 82,035,390 (+)NCBIGRCm37mm9NCBIm37
MGSCv361581,974,524 - 82,032,215 (+)NCBImm8
Celera1584,270,919 - 84,328,680 (+)NCBICelera
Cytogenetic Map15E1NCBI
Srebf2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27113,663,202 - 113,720,850 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl7113,663,202 - 113,720,848 (+)Ensembl
Rnor_6.07123,381,082 - 123,438,605 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7123,381,077 - 123,438,603 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07123,364,495 - 123,422,296 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47120,522,511 - 120,580,212 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17120,556,723 - 120,612,972 (+)NCBI
Celera7109,978,519 - 110,036,018 (+)NCBICelera
Cytogenetic Map7q34NCBI
Srebf2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541327,271,953 - 27,326,759 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541327,271,717 - 27,326,655 (+)NCBIChiLan1.0ChiLan1.0
SREBF2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12240,811,459 - 40,884,947 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2240,811,459 - 40,884,947 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02222,725,790 - 22,799,749 (+)NCBIMhudiblu_PPA_v0panPan3
SREBF2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11023,451,923 - 23,532,765 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1023,518,672 - 23,532,676 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1023,452,561 - 23,518,689 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1023,386,005 - 23,466,159 (-)NCBI
ROS_Cfam_1.01024,196,924 - 24,277,611 (-)NCBI
UMICH_Zoey_3.11023,913,907 - 23,994,651 (-)NCBI
UNSW_CanFamBas_1.01024,235,143 - 24,315,317 (-)NCBI
UU_Cfam_GSD_1.01024,409,296 - 24,489,954 (-)NCBI
Srebf2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049457,105,519 - 7,164,174 (-)NCBI
SpeTri2.0NW_004936492115,923 - 174,614 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SREBF2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl56,719,487 - 6,784,672 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.156,719,484 - 6,784,724 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SREBF2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11924,364,725 - 24,439,851 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1924,364,911 - 24,440,014 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666045100,972,400 - 101,047,348 (-)NCBIVero_WHO_p1.0
Srebf2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247526,815,075 - 6,871,674 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D22S1157  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,239,889 - 42,240,121UniSTSGRCh37
Build 362240,569,835 - 40,570,067RGDNCBI36
Celera2226,046,091 - 26,046,323RGD
Cytogenetic Map22q13UniSTS
HuRef2225,205,573 - 25,205,815UniSTS
Marshfield Genetic Map2247.31UniSTS
Marshfield Genetic Map2247.31RGD
Genethon Genetic Map2240.9UniSTS
deCODE Assembly Map2249.4UniSTS
SHGC-30242  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,303,146 - 42,303,271UniSTSGRCh37
Build 362240,633,092 - 40,633,217RGDNCBI36
Celera2226,109,380 - 26,109,505RGD
Cytogenetic Map22q13UniSTS
HuRef2225,268,845 - 25,268,970UniSTS
GeneMap99-GB4 RH Map22136.66UniSTS
Whitehead-RH Map22157.1UniSTS
GeneMap99-G3 RH Map221353.0UniSTS
SHGC-58081  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,253,278 - 42,253,375UniSTSGRCh37
Build 362240,583,224 - 40,583,321RGDNCBI36
Celera2226,059,515 - 26,059,612RGD
Cytogenetic Map22q13UniSTS
HuRef2225,218,973 - 25,219,070UniSTS
TNG Radiation Hybrid Map2210207.0UniSTS
SHGC-12896  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,301,830 - 42,302,157UniSTSGRCh37
GRCh372242,302,140 - 42,302,257UniSTSGRCh37
Build 362240,632,086 - 40,632,203RGDNCBI36
Celera2226,108,374 - 26,108,491RGD
Celera2226,108,064 - 26,108,391UniSTS
Cytogenetic Map22q13UniSTS
HuRef2225,267,529 - 25,267,856UniSTS
HuRef2225,267,839 - 25,267,956UniSTS
GeneMap99-G3 RH Map221318.0UniSTS
RH80373  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,281,234 - 42,281,482UniSTSGRCh37
Build 362240,611,180 - 40,611,428RGDNCBI36
Celera2226,087,469 - 26,087,717RGD
Cytogenetic Map22q13UniSTS
HuRef2225,246,935 - 25,247,183UniSTS
RH102651  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,257,059 - 42,257,197UniSTSGRCh37
Build 362240,587,005 - 40,587,143RGDNCBI36
Celera2226,063,296 - 26,063,434RGD
Cytogenetic Map22q13UniSTS
HuRef2225,222,754 - 25,222,892UniSTS
GeneMap99-GB4 RH Map22136.66UniSTS
GDB:592857  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,302,486 - 42,302,814UniSTSGRCh37
Build 362240,632,432 - 40,632,760RGDNCBI36
Celera2226,108,720 - 26,109,048RGD
Cytogenetic Map22q13UniSTS
HuRef2225,268,185 - 25,268,513UniSTS
WI-20973  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,302,016 - 42,302,226UniSTSGRCh37
Build 362240,631,962 - 40,632,172RGDNCBI36
Celera2226,108,250 - 26,108,460RGD
Cytogenetic Map22q13UniSTS
HuRef2225,267,715 - 25,267,925UniSTS
GeneMap99-GB4 RH Map22126.95UniSTS
Whitehead-RH Map22156.4UniSTS
D22S1563  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,239,595 - 42,239,725UniSTSGRCh37
Build 362240,569,541 - 40,569,671RGDNCBI36
Celera2226,045,797 - 26,045,927RGD
Cytogenetic Map22q13UniSTS
HuRef2225,205,279 - 25,205,409UniSTS
1094  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,237,235 - 42,237,327UniSTSGRCh37
Build 362240,567,181 - 40,567,273RGDNCBI36
Celera2226,043,437 - 26,043,529RGD
Cytogenetic Map22q13UniSTS
HuRef2225,202,919 - 25,203,011UniSTS
GeneMap99-GB4 RH Map22137.69UniSTS
AL008656  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,250,105 - 42,250,201UniSTSGRCh37
Build 362240,580,051 - 40,580,147RGDNCBI36
Celera2226,056,298 - 26,056,394RGD
Cytogenetic Map22q13UniSTS
HuRef2225,215,800 - 25,215,896UniSTS
WI-12706  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,270,242 - 42,270,391UniSTSGRCh37
Build 362240,600,188 - 40,600,337RGDNCBI36
Celera2226,076,477 - 26,076,626RGD
Cytogenetic Map22q13UniSTS
HuRef2225,235,943 - 25,236,092UniSTS
GeneMap99-GB4 RH Map22135.91UniSTS
Whitehead-RH Map22156.3UniSTS
SHGC-12896  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map22q13UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5035
Count of miRNA genes:1135
Interacting mature miRNAs:1442
Transcripts:ENST00000361204, ENST00000424354, ENST00000435061, ENST00000462539, ENST00000463741, ENST00000464119, ENST00000490262, ENST00000491541
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2432 2648 1704 607 1688 449 4337 2095 3649 406 1446 1605 171 1204 2770 4
Low 1 340 19 16 261 16 18 100 73 12 5 4 4 1 18 1
Below cutoff 4 2 2 1 2 10 1 7 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_004599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_103834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA035591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL021453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CT841522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D86746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U02031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z99716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000361204   ⟹   ENSP00000354476
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,833,105 - 41,907,305 (+)Ensembl
RefSeq Acc Id: ENST00000424354   ⟹   ENSP00000395728
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,833,164 - 41,907,306 (+)Ensembl
RefSeq Acc Id: ENST00000435061   ⟹   ENSP00000412287
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,898,676 - 41,904,973 (+)Ensembl
RefSeq Acc Id: ENST00000462539
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,873,689 - 41,877,396 (+)Ensembl
RefSeq Acc Id: ENST00000463741
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,897,068 - 41,899,188 (+)Ensembl
RefSeq Acc Id: ENST00000464119
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,875,431 - 41,877,366 (+)Ensembl
RefSeq Acc Id: ENST00000490262
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,900,083 - 41,903,003 (+)Ensembl
RefSeq Acc Id: ENST00000491541
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,885,596 - 41,907,306 (+)Ensembl
RefSeq Acc Id: ENST00000612482   ⟹   ENSP00000484441
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,833,079 - 41,907,307 (+)Ensembl
RefSeq Acc Id: NM_004599   ⟹   NP_004590
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,833,105 - 41,907,305 (+)NCBI
GRCh372242,229,083 - 42,303,312 (+)NCBI
Build 362240,559,052 - 40,632,321 (+)NCBI Archive
HuRef2225,194,635 - 25,269,011 (+)NCBI
CHM1_12242,189,135 - 42,263,520 (+)NCBI
Sequence:
RefSeq Acc Id: NR_103834
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,833,105 - 41,907,305 (+)NCBI
HuRef2225,194,635 - 25,269,011 (+)NCBI
CHM1_12242,189,135 - 42,263,520 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724310   ⟹   XP_006724373
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,833,504 - 41,907,308 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530347   ⟹   XP_011528649
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,833,105 - 41,907,308 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028921   ⟹   XP_016884410
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,833,128 - 41,900,122 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028922   ⟹   XP_016884411
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,833,128 - 41,886,651 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755276
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,833,128 - 41,900,120 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755277
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,833,128 - 41,886,651 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755278
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,833,105 - 41,903,023 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004590   ⟸   NM_004599
- UniProtKB: Q12772 (UniProtKB/Swiss-Prot),   A0A024R1Q0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006724373   ⟸   XM_006724310
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011528649   ⟸   XM_011530347
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016884410   ⟸   XM_017028921
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016884411   ⟸   XM_017028922
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000395728   ⟸   ENST00000424354
RefSeq Acc Id: ENSP00000354476   ⟸   ENST00000361204
RefSeq Acc Id: ENSP00000484441   ⟸   ENST00000612482
RefSeq Acc Id: ENSP00000412287   ⟸   ENST00000435061
Protein Domains
bHLH

Promoters
RGD ID:6800384
Promoter ID:HG_KWN:43019
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000321956,   OTTHUMT00000321957
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,558,646 - 40,559,147 (+)MPROMDB
RGD ID:6800391
Promoter ID:HG_KWN:43022
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000321963
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,599,554 - 40,600,054 (+)MPROMDB
RGD ID:6800389
Promoter ID:HG_KWN:43023
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000321962
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,601,246 - 40,601,747 (+)MPROMDB
RGD ID:6812233
Promoter ID:HG_ACW:52242
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:SREBF2.FAPR07,   SREBF2.HAPR07,   SREBF2.IAPR07-UNSPLICED,   TARPA.AAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,603,946 - 40,604,446 (+)MPROMDB
RGD ID:6800383
Promoter ID:HG_KWN:43024
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   Lymphoblastoid
Transcripts:OTTHUMT00000321958
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,610,596 - 40,611,747 (+)MPROMDB
RGD ID:6800390
Promoter ID:HG_KWN:43025
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000321961
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,622,929 - 40,623,429 (+)MPROMDB
RGD ID:6800386
Promoter ID:HG_KWN:43026
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000321960
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,624,554 - 40,625,054 (+)MPROMDB
RGD ID:6800385
Promoter ID:HG_KWN:43027
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000321959
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,625,121 - 40,626,452 (+)MPROMDB
RGD ID:6800392
Promoter ID:HG_KWN:43028
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC003BBK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,631,241 - 40,633,247 (+)MPROMDB
RGD ID:13604288
Promoter ID:EPDNEW_H28328
Type:initiation region
Name:SREBF2_1
Description:sterol regulatory element binding transcription factor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28329  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,833,111 - 41,833,171EPDNEW
RGD ID:13604290
Promoter ID:EPDNEW_H28329
Type:initiation region
Name:SREBF2_2
Description:sterol regulatory element binding transcription factor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28328  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,833,250 - 41,833,310EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33
pathogenic
GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1 copy number loss See cases [RCV000136528] Chr22:41645339..42565798 [GRCh38]
Chr22:42041343..42961804 [GRCh37]
Chr22:40371289..41291748 [NCBI36]
Chr22:22q13.2
uncertain significance
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3 copy number gain See cases [RCV000136785] Chr22:41277822..42414957 [GRCh38]
Chr22:41673826..42810963 [GRCh37]
Chr22:40003772..41140907 [NCBI36]
Chr22:22q13.2
pathogenic
GRCh38/hg38 22q13.2(chr22:41764466-41998153)x3 copy number gain See cases [RCV000142720] Chr22:41764466..41998153 [GRCh38]
Chr22:42160470..42394157 [GRCh37]
Chr22:40490416..40724103 [NCBI36]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:42207144-42776457)x1 copy number loss See cases [RCV000240146] Chr22:42207144..42776457 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:41835094-42756616)x3 copy number gain See cases [RCV000511241] Chr22:41835094..42756616 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NC_000022.11:g.(?_41301335)_(42070317_?)del deletion Common variable immunodeficiency 4 [RCV000648330] Chr22:41301335..42070317 [GRCh38]
Chr22:41697339..42466321 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2(chr22:41849322-42756616)x3 copy number gain not provided [RCV000684486] Chr22:41849322..42756616 [GRCh37]
Chr22:22q13.2
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
null single nucleotide variant not provided [RCV001708720] Chr22:41873624 [GRCh38]
Chr22:42269628 [GRCh37]
Chr22:22q13.2
benign
NM_001943.5(DSG2):c.1299T>C (p.Asp433=) single nucleotide variant not provided [RCV001707971] Chr22:41904944 [GRCh38]
Chr22:42300948 [GRCh37]
Chr22:22q13.2
benign
NM_004599.4(SREBF2):c.2495+181C>G single nucleotide variant not provided [RCV001535082] Chr22:41895118 [GRCh38]
Chr22:42291122 [GRCh37]
Chr22:22q13.2
benign
null single nucleotide variant not provided [RCV001669195] Chr22:41893313 [GRCh38]
Chr22:42289317 [GRCh37]
Chr22:22q13.2
benign
NM_004599.4(SREBF2):c.3105T>C (p.His1035=) single nucleotide variant not provided [RCV000969873] Chr22:41904874 [GRCh38]
Chr22:42300878 [GRCh37]
Chr22:22q13.2
benign
NM_004599.4(SREBF2):c.366C>A (p.Pro122=) single nucleotide variant not provided [RCV000967591] Chr22:41867108 [GRCh38]
Chr22:42263112 [GRCh37]
Chr22:22q13.2
benign
NM_004599.4(SREBF2):c.2377+10C>G single nucleotide variant not provided [RCV000882789] Chr22:41893295 [GRCh38]
Chr22:42289299 [GRCh37]
Chr22:22q13.2
benign
NM_004599.4(SREBF2):c.3206-10C>A single nucleotide variant not provided [RCV000901766] Chr22:41905430 [GRCh38]
Chr22:42301434 [GRCh37]
Chr22:22q13.2
likely benign
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) single nucleotide variant not provided [RCV001643517] Chr22:41833036 [GRCh38]
Chr22:42229040 [GRCh37]
Chr22:22q13.2
benign
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
NM_004599.4(SREBF2):c.1112G>A (p.Arg371Lys) single nucleotide variant not provided [RCV000954790] Chr22:41875359 [GRCh38]
Chr22:42271363 [GRCh37]
Chr22:22q13.2
benign
NM_004599.4(SREBF2):c.2673C>T (p.Asp891=) single nucleotide variant not provided [RCV000925729] Chr22:41898716 [GRCh38]
Chr22:42294720 [GRCh37]
Chr22:22q13.2
likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
null single nucleotide variant not provided [RCV001621329] Chr22:41900699 [GRCh38]
Chr22:42296703 [GRCh37]
Chr22:22q13.2
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001648417] Chr22:41877838 [GRCh38]
Chr22:42273842 [GRCh37]
Chr22:22q13.2
benign
null single nucleotide variant not provided [RCV001669855] Chr22:41833088 [GRCh38]
Chr22:42229092 [GRCh37]
Chr22:22q13.2
benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) single nucleotide variant not provided [RCV001676538] Chr22:41877458 [GRCh38]
Chr22:42273462 [GRCh37]
Chr22:22q13.2
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001656953] Chr22:41905744 [GRCh38]
Chr22:42301748 [GRCh37]
Chr22:22q13.2
benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001714933] Chr22:41897274 [GRCh38]
Chr22:42293278 [GRCh37]
Chr22:22q13.2
benign
null single nucleotide variant not provided [RCV001673272] Chr22:41905129 [GRCh38]
Chr22:42301133 [GRCh37]
Chr22:22q13.2
benign
NM_004599.4(SREBF2):c.1867G>A (p.Val623Met) single nucleotide variant not provided [RCV000962876] Chr22:41880821 [GRCh38]
Chr22:42276825 [GRCh37]
Chr22:22q13.2
benign
NM_004599.4(SREBF2):c.201T>C (p.Ser67=) single nucleotide variant not provided [RCV000968425] Chr22:41866943 [GRCh38]
Chr22:42262947 [GRCh37]
Chr22:22q13.2
benign
NM_004599.4(SREBF2):c.699G>A (p.Ala233=) single nucleotide variant not provided [RCV000958243] Chr22:41868771 [GRCh38]
Chr22:42264775 [GRCh37]
Chr22:22q13.2
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001659657] Chr22:41900138 [GRCh38]
Chr22:42296142 [GRCh37]
Chr22:22q13.2
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001682221] Chr22:41878283 [GRCh38]
Chr22:42274287 [GRCh37]
Chr22:22q13.2
benign
null single nucleotide variant not provided [RCV001618973] Chr22:41905010 [GRCh38]
Chr22:42301014 [GRCh37]
Chr22:22q13.2
benign
null single nucleotide variant not provided [RCV001696402] Chr22:41885145 [GRCh38]
Chr22:42281149 [GRCh37]
Chr22:22q13.2
benign
null single nucleotide variant not provided [RCV001673377] Chr22:41900175 [GRCh38]
Chr22:42296179 [GRCh37]
Chr22:22q13.2
benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) single nucleotide variant not provided [RCV001676961] Chr22:41892990 [GRCh38]
Chr22:42288994 [GRCh37]
Chr22:22q13.2
benign
null single nucleotide variant not provided [RCV001636145] Chr22:41896881 [GRCh38]
Chr22:42292885 [GRCh37]
Chr22:22q13.2
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001680843] Chr22:41884885 [GRCh38]
Chr22:42280889 [GRCh37]
Chr22:22q13.2
benign
null single nucleotide variant not provided [RCV001691367] Chr22:41896919 [GRCh38]
Chr22:42292923 [GRCh37]
Chr22:22q13.2
benign
null single nucleotide variant not provided [RCV001616380] Chr22:41878030 [GRCh38]
Chr22:42274034 [GRCh37]
Chr22:22q13.2
benign
GRCh37/hg19 22q13.2(chr22:41853620-42385978)x1 copy number loss not provided [RCV001258783] Chr22:41853620..42385978 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2(chr22:42158393-42409550)x3 copy number gain not provided [RCV001258784] Chr22:42158393..42409550 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NC_000022.10:g.(?_41697339)_(42466321_?)del deletion Common variable immunodeficiency 4 [RCV001305750] Chr22:41697339..42466321 [GRCh37]
Chr22:22q13.2
uncertain significance
null single nucleotide variant not provided [RCV001695368] Chr22:41893496 [GRCh38]
Chr22:42289500 [GRCh37]
Chr22:22q13.2
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001682580] Chr22:41905708 [GRCh38]
Chr22:42301712 [GRCh37]
Chr22:22q13.2
benign
null single nucleotide variant not provided [RCV001614315] Chr22:41905430 [GRCh38]
Chr22:42301434 [GRCh37]
Chr22:22q13.2
benign
null single nucleotide variant not provided [RCV001708207] Chr22:41880738 [GRCh38]
Chr22:42276742 [GRCh37]
Chr22:22q13.2
benign
null single nucleotide variant not provided [RCV001696510] Chr22:41871192 [GRCh38]
Chr22:42267196 [GRCh37]
Chr22:22q13.2
benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001714901] Chr22:41893462 [GRCh38]
Chr22:42289466 [GRCh37]
Chr22:22q13.2
benign
null single nucleotide variant not provided [RCV001616680] Chr22:41897136 [GRCh38]
Chr22:42293140 [GRCh37]
Chr22:22q13.2
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11290 AgrOrtholog
COSMIC SREBF2 COSMIC
Ensembl Genes ENSG00000198911 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000354476 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000395728 UniProtKB/TrEMBL
  ENSP00000412287 UniProtKB/TrEMBL
  ENSP00000484441 UniProtKB/TrEMBL
Ensembl Transcript ENST00000361204 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000424354 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000435061 UniProtKB/TrEMBL
  ENST00000612482 UniProtKB/TrEMBL
Gene3D-CATH 4.10.280.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000198911 GTEx
HGNC ID HGNC:11290 ENTREZGENE
Human Proteome Map SREBF2 Human Proteome Map
InterPro bHLH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HLH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6721 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6721 ENTREZGENE
OMIM 600481 OMIM
Pfam HLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA336 PharmGKB
PROSITE BHLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47459 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R1Q0 ENTREZGENE, UniProtKB/TrEMBL
  A0A087X1T2_HUMAN UniProtKB/TrEMBL
  G3V0I8_HUMAN UniProtKB/TrEMBL
  H0Y7E5_HUMAN UniProtKB/TrEMBL
  Q12772 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q05BD5 UniProtKB/Swiss-Prot
  Q6GTH7 UniProtKB/Swiss-Prot
  Q86V36 UniProtKB/Swiss-Prot
  Q9UH04 UniProtKB/Swiss-Prot