CLU (clusterin) - Rat Genome Database

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Gene: CLU (clusterin) Homo sapiens
Analyze
Symbol: CLU
Name: clusterin
RGD ID: 68978
HGNC Page HGNC:2095
Description: Enables several functions, including amyloid-beta binding activity; low-density lipoprotein particle receptor binding activity; and misfolded protein binding activity. Involved in several processes, including positive regulation of cellular component organization; regulation of intrinsic apoptotic signaling pathway; and regulation of protein metabolic process. Located in several cellular components, including apical dendrite; neurofibrillary tangle; and perinuclear endoplasmic reticulum lumen. Part of spherical high-density lipoprotein particle. Colocalizes with cell periphery; cytoskeleton; and membrane. Implicated in artery disease (multiple); breast cancer; diabetic retinopathy; exfoliation syndrome; and muscular disease (multiple). Biomarker of several diseases, including Kawasaki disease; Stevens-Johnson syndrome; autoimmune disease of musculoskeletal system (multiple); eye disease (multiple); and invasive ductal carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AAG4; aging-associated protein 4; APO-J; APOJ; apolipoprotein J; CLI; CLU1; CLU2; complement cytolysis inhibitor; complement lysis inhibitor; complement-associated protein SP-40,40; ku70-binding protein 1; KUB1; MGC24903; NA1/NA2; SGP-2; SGP2; SP-40; sulfated glycoprotein 2; testosterone-repressed prostate message 2; TRPM-2; TRPM2
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
GRCh38827,596,917 - 27,614,700 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl827,596,917 - 27,614,700 (-)EnsemblGRCh38hg38GRCh38
GRCh37827,454,434 - 27,472,217 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36827,510,368 - 27,528,244 (-)NCBINCBI36Build 36hg18NCBI36
Build 34827,510,367 - 27,524,855NCBI
Celera826,414,541 - 26,432,416 (-)NCBICelera
Cytogenetic Map8p21.1NCBI
HuRef825,999,468 - 26,017,387 (-)NCBIHuRef
CHM1_1827,656,307 - 27,674,217 (-)NCBICHM1_1
T2T-CHM13v2.0827,874,264 - 27,892,057 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute kidney failure  (EXP,ISO)
Alzheimer's disease  (EXP,IAGP,IEP)
amyotrophic lateral sclerosis type 1  (EXP)
anti-basement membrane glomerulonephritis  (ISO)
atherosclerosis  (IDA)
Atrophy  (EXP)
autosomal dominant nocturnal frontal lobe epilepsy  (IAGP)
benign familial infantile seizures 6  (IAGP)
brain ischemia  (ISO)
breast cancer  (IAGP)
Breast Neoplasms  (IEP,IMP)
Chemical and Drug Induced Liver Injury  (EXP)
Chronic Allograft Nephropathy  (ISO)
chronic kidney disease  (ISO)
cicatricial pemphigoid  (IEP)
Cognitive Dysfunction  (EXP)
conjunctival disease  (IEP)
coronary artery disease  (IEP)
Diabetic Nephropathies  (ISO)
diabetic retinopathy  (IDA)
Drug-Related Side Effects and Adverse Reactions  (EXP)
exfoliation syndrome  (IAGP,IEP)
Experimental Diabetes Mellitus  (ISO)
Experimental Mammary Neoplasms  (IMP)
Fuchs' endothelial dystrophy  (IEP,ISO)
gelatinous drop-like corneal dystrophy  (IEP)
Hyperplasia  (IEP)
hypertension  (IAGP)
inclusion body myositis  (IDA)
invasive ductal carcinoma  (IEP)
iron metabolism disease  (ISO)
juvenile rheumatoid arthritis  (EXP)
Kawasaki disease  (IEP)
kidney disease  (EXP)
lupus nephritis  (ISO)
Lymphatic Metastasis  (IAGP)
macular retinal edema  (IEP)
melanoma  (EXP)
muscular disease  (IDA)
mycosis fungoides  (IEP)
myocardial infarction  (IDA)
nasal cavity adenocarcinoma  (IEP)
Neointima  (ISO)
Neoplasm Metastasis  (IMP)
Neovascularization, Pathologic  (EXP)
Optic Nerve Injuries  (ISO)
osteoarthritis  (EXP)
Pituitary Neoplasms  (ISO)
pre-eclampsia  (IAGP)
prostate adenocarcinoma  (ISO)
prostatic hypertrophy  (ISO)
Prostatic Neoplasms  (EXP)
proteinuria  (ISO)
psoriasis  (IEP)
pulmonary hypertension  (ISO)
renal fibrosis  (ISO)
Retina Reperfusion Injury  (ISO)
retinal degeneration  (ISO)
skin papilloma  (ISO)
squamous cell carcinoma  (ISO)
Stevens-Johnson syndrome  (IEP)
systemic lupus erythematosus  (EXP,IEP)
systemic scleroderma  (IEP)
vitiligo  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-ropivacaine  (EXP)
1,1'-azobis(N,N-dimethylformamide)  (EXP)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
1-nitropyrene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3-dimethoxynaphthalene-1,4-dione  (EXP)
2,5-hexanedione  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (EXP)
2-acetamidofluorene  (ISO)
2-hydroxypropanoic acid  (EXP)
2-methoxyethanol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-Dichlorobenzophenone  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-tert-Octylphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP,ISO)
allethrin  (ISO)
aluminium oxide  (ISO)
ammonia  (ISO)
ammonium chloride  (EXP,ISO)
amphotericin B  (ISO)
antirheumatic drug  (EXP)
arsenous acid  (EXP)
azoxystrobin  (ISO)
bacitracin  (ISO)
bathocuproine disulfonic acid  (EXP)
belinostat  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bicalutamide  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bortezomib  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbendazim  (ISO)
carbon nanotube  (ISO)
carboplatin  (ISO)
carnosic acid  (ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
chloroform  (ISO)
chloroquine  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (EXP,ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (ISO)
CU-O LINKAGE  (EXP)
cumene  (ISO)
Cuprizon  (ISO)
cyanuric acid  (ISO)
cyclosporin A  (EXP,ISO)
cyhalothrin  (ISO)
cypermethrin  (ISO)
D-penicillamine  (EXP)
dacarbazine  (EXP)
daidzein  (ISO)
DDE  (EXP,ISO)
DDT  (ISO)
deferasirox  (ISO)
depsipeptide  (EXP)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
dibenzoylmethane  (ISO)
dibutyl phthalate  (ISO)
dichlorine  (EXP,ISO)
diclofenac  (ISO)
diethylstilbestrol  (EXP,ISO)
dimethylarsinic acid  (ISO)
dimethylarsinous acid  (EXP)
dioxygen  (EXP)
dobutamine  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
enalapril  (ISO)
Enterolactone  (EXP)
entinostat  (EXP)
ethanol  (EXP,ISO)
fenvalerate  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fulvestrant  (EXP,ISO)
fumonisin B1  (ISO)
furan  (ISO)
gamma-hexachlorocyclohexane  (ISO)
gemcitabine  (EXP)
genistein  (ISO)
gentamycin  (ISO)
glutathione  (ISO)
glycidol  (ISO)
glyphosate  (ISO)
graphite  (ISO)
Hexachloro-1,3-butadiene  (ISO)
hydrogen peroxide  (EXP)
ibuprofen  (EXP)
imidacloprid  (ISO)
isocyanuric acid  (ISO)
isoflavones  (ISO)
isoprenaline  (ISO)
ketamine  (ISO)
ketoconazole  (ISO)
kojic acid  (ISO)
L-ascorbic acid  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
levamisole  (EXP)
Licochalcone B  (EXP)
linsidomine  (ISO)
lipopolysaccharide  (ISO)
m-xylene  (ISO)
maneb  (ISO)
Meclizine  (EXP)
megestrol  (EXP)
melamine  (ISO)
mercury dichloride  (ISO)
metaproterenol  (ISO)
Methazolamide  (EXP)
methoxyacetic acid  (ISO)
methoxychlor  (ISO)
methylarsonic acid  (ISO)
methylisothiazolinone  (EXP)
methylseleninic acid  (EXP)
mitoxantrone  (EXP)
N-(3-methyl-5-sulfamoyl-1,3,4-thiadiazol-2-ylidene)acetamide  (EXP)
N-acetyl-L-cysteine  (EXP)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
naphthalene  (ISO)
natamycin  (ISO)
nickel atom  (EXP,ISO)
nifedipine  (ISO)
nimodipine  (ISO)
nitroglycerin  (ISO)
Nonylphenol  (ISO)
nystatin  (ISO)
ochratoxin A  (ISO)
okadaic acid  (EXP)
olanzapine  (EXP)
omega-conotoxin GVIA  (ISO)
orciprenaline  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
p-menthan-3-ol  (EXP)
p-tert-Amylphenol  (ISO)
paclitaxel  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
patulin  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenethyl isothiocyanate  (EXP)
phenobarbital  (ISO)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium bromate  (ISO)
potassium chromate  (EXP)
potassium dichromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
procymidone  (ISO)
progesterone  (ISO)
rac-lactic acid  (EXP)
raloxifene  (EXP,ISO)
razoxane  (ISO)
resveratrol  (EXP,ISO)
rofecoxib  (EXP)
rotenone  (ISO)
sarin  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP)
silver atom  (EXP,ISO)
silver(0)  (EXP,ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
streptozocin  (ISO)
styrene  (ISO)
succimer  (ISO)
sulfasalazine  (ISO)
sulforaphane  (ISO)
sulindac  (EXP)
sunitinib  (EXP)
T-2 toxin  (EXP)
tacrolimus hydrate  (ISO)
tamoxifen  (ISO)
Tanshinone I  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP,ISO)
Testosterone propionate  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
tetramethylpyrazine  (ISO)
theophylline  (ISO)
thiabendazole  (ISO)
thimerosal  (EXP)
titanium dioxide  (EXP,ISO)
topotecan  (ISO)
triazines  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
Triptolide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (ISO)
valproic acid  (EXP)
vanadium atom  (EXP)
vanadium(0)  (EXP)
vancomycin  (ISO)
verapamil  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP,ISO)
wortmannin  (ISO)
zinc atom  (EXP,ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
apoptotic process  (IEA)
cell morphogenesis  (IDA)
cellular response to growth factor stimulus  (ISO)
central nervous system myelin maintenance  (IMP)
chaperone-mediated protein complex assembly  (IDA)
chaperone-mediated protein folding  (IDA)
complement activation  (TAS)
complement activation, classical pathway  (IEA)
endocrine pancreas development  (ISO)
estrous cycle  (ISO)
immune complex clearance  (IEA,ISS)
immune system process  (IEA)
innate immune response  (IEA)
intrinsic apoptotic signaling pathway  (IDA)
lipid metabolic process  (NAS)
microglial cell activation  (IDA)
microglial cell proliferation  (IDA)
negative regulation of amyloid fibril formation  (IDA,IEA,TAS)
negative regulation of amyloid-beta formation  (IDA)
negative regulation of apoptotic process  (ISO)
negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage  (IMP)
negative regulation of neuron apoptotic process  (ISS)
negative regulation of protein-containing complex assembly  (IDA,IMP)
negative regulation of release of cytochrome c from mitochondria  (TAS)
negative regulation of response to endoplasmic reticulum stress  (IMP)
neuron projection morphogenesis  (ISO)
positive regulation of amyloid fibril formation  (TAS)
positive regulation of amyloid-beta formation  (IEA,ISS)
positive regulation of apoptotic process  (IEA,IMP,ISS)
positive regulation of cell differentiation  (ISO)
positive regulation of cell population proliferation  (ISO)
positive regulation of gene expression  (ISS)
positive regulation of intrinsic apoptotic signaling pathway  (IMP)
positive regulation of neurofibrillary tangle assembly  (IMP)
positive regulation of neuron death  (IDA,IEA,IMP)
positive regulation of NF-kappaB transcription factor activity  (IMP)
positive regulation of nitric oxide biosynthetic process  (IDA)
positive regulation of proteasomal ubiquitin-dependent protein catabolic process  (IBA,IMP)
positive regulation of protein-containing complex assembly  (IDA)
positive regulation of receptor-mediated endocytosis  (IGI,ISS)
positive regulation of tau-protein kinase activity  (IMP)
positive regulation of tumor necrosis factor production  (IDA)
positive regulation of ubiquitin-dependent protein catabolic process  (IMP)
protein import  (IDA)
protein stabilization  (IDA)
protein targeting to lysosome involved in chaperone-mediated autophagy  (IDA)
regulation of amyloid-beta clearance  (IDA)
regulation of apoptotic process  (IBA)
regulation of cell population proliferation  (IMP)
regulation of neuron death  (IDA,IMP)
regulation of neuronal signal transduction  (IMP)
release of cytochrome c from mitochondria  (IC)
response to light stimulus  (ISO)
response to misfolded protein  (IDA)
response to potassium ion  (ISO)
response to virus  (IEP)
reverse cholesterol transport  (TAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Genetic analysis of the clusterin gene in pseudoexfoliation syndrome. Burdon KP, etal., Mol Vis. 2008 Sep 22;14:1727-36.
2. Iron deficiency alters expression of genes implicated in Alzheimer disease pathogenesis. Carlson ES, etal., Brain Res. 2008 Aug 7.
3. Association of apolipoprotein J gene 866C-->T polymorphism with preeclampsia and essential hypertension. Chen M, etal., Gynecol Obstet Invest. 2005;60(3):133-8. Epub 2005 May 27.
4. Clusterin and FOXL2 act concordantly to regulate pituitary gonadotroph adenoma growth. Chesnokova V, etal., Mol Endocrinol. 2012 Dec;26(12):2092-103. doi: 10.1210/me.2012-1158. Epub 2012 Oct 9.
5. Involvement of clusterin and the aggresome in abnormal protein deposits in myofibrillar myopathies and inclusion body myositis. Ferrer I, etal., Brain Pathol. 2005 Apr;15(2):101-8.
6. Human clusterin (CLI) maps to 8p21 in proximity to the lipoprotein lipase (LPL) gene. Fink TM, etal., Genomics 1993 May;16(2):526-8.
7. Effects of clusterin over-expression on metastatic progression and therapy in breast cancer. Flanagan L, etal., BMC Cancer. 2010 Mar 22;10:107. doi: 10.1186/1471-2407-10-107.
8. Mesenchymal stem cell therapy prevents interstitial fibrosis and tubular atrophy in a rat kidney allograft model. Franquesa M, etal., Stem Cells Dev. 2012 Nov 20;21(17):3125-35. doi: 10.1089/scd.2012.0096. Epub 2012 May 18.
9. Decreased plasma levels of clusterin in patients with psoriasis. Garcia-Rodriguez S, etal., Actas Dermosifiliogr. 2013 Jul-Aug;104(6):497-503. doi: 10.1016/j.ad.2012.11.019. Epub 2013 Mar 21.
10. Possible neuroprotective role of clusterin in Alzheimer's disease: a quantitative immunocytochemical study. Giannakopoulos P, etal., Acta Neuropathol. 1998 Apr;95(4):387-94.
11. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
12. Expression of clusterin in Muller cells of the rat retina after pressure-induced ischemia. Gwon JS, etal., Glia. 2004 Jul;47(1):35-45.
13. Identification of new pathogenic candidates for diabetic macular edema using fluorescence-based difference gel electrophoresis analysis. Hernandez C, etal., Diabetes Metab Res Rev. 2013 Sep;29(6):499-506. doi: 10.1002/dmrr.2419.
14. Clusterin attenuates the development of renal fibrosis. Jung GS, etal., J Am Soc Nephrol. 2012 Jan;23(1):73-85. doi: 10.1681/ASN.2011010048. Epub 2011 Nov 3.
15. Increased clusterin expression in Fuchs' endothelial dystrophy. Jurkunas UV, etal., Invest Ophthalmol Vis Sci. 2008 Jul;49(7):2946-55. doi: 10.1167/iovs.07-1405. Epub 2008 Mar 31.
16. Up-regulation of clusterin during phthalocyanine 4 photodynamic therapy-mediated apoptosis of tumor cells and ablation of mouse skin tumors. Kalka K, etal., Cancer Res. 2000 Nov 1;60(21):5984-7.
17. The role of clusterin on pancreatic beta cell regeneration after exendin-4 treatment in neonatal streptozotocin administrated rats. Kaya-Dagistanli F and Ozturk M, Acta Histochem. 2013 Jul;115(6):577-86. doi: 10.1016/j.acthis.2012.12.007. Epub 2013 Jan 23.
18. Protective role of clusterin/apolipoprotein J against neointimal hyperplasia via antiproliferative effect on vascular smooth muscle cells and cytoprotective effect on endothelial cells. Kim HJ, etal., Arterioscler Thromb Vasc Biol. 2009 Oct;29(10):1558-64. doi: 10.1161/ATVBAHA.109.190058. Epub 2009 Aug 20.
19. A signaling network in phenylephrine-induced benign prostatic hyperplasia. Kim J, etal., Endocrinology. 2009 Aug;150(8):3576-83. doi: 10.1210/en.2008-1782. Epub 2009 May 14.
20. Protective effect of clusterin on blood-retinal barrier breakdown in diabetic retinopathy. Kim JH, etal., Invest Ophthalmol Vis Sci. 2010 Mar;51(3):1659-65. doi: 10.1167/iovs.09-3615. Epub 2009 Oct 29.
21. Retinal expression of clusterin in the streptozotocin-induced diabetic rat. Kim YS, etal., Brain Res. 2003 Jun 20;976(1):53-9.
22. Prognostic significance of clusterin immunoreactivity in breast cancer. Kruger S, etal., Neoplasma. 2007;54(1):46-50.
23. Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. Krumbiegel M, etal., Invest Ophthalmol Vis Sci. 2009 Jun;50(6):2796-801. doi: 10.1167/iovs.08-2339. Epub 2009 Jan 31.
24. Stable knockdown of clusterin by vectorbased RNA interference in a human breast cancer cell line inhibits tumour cell invasion and metastasis. Li J, etal., J Int Med Res. 2012;40(2):545-55.
25. Secretory clusterin is upregulated in rats with pulmonary arterial hypertension induced by systemic-to-pulmonary shunts and exerts important roles in pulmonary artery smooth muscle cells. Liu X, etal., Acta Physiol (Oxf). 2014 Jul 29. doi: 10.1111/apha.12352.
26. Endothelial Cdkn1a (p21) overexpression and accelerated senescence in a mouse model of Fuchs endothelial corneal dystrophy. Matthaei M, etal., Invest Ophthalmol Vis Sci. 2012 Sep 28;53(10):6718-27.
27. Tubular up-regulation of clusterin mRNA in murine lupus-like nephritis. Moll S, etal., Am J Pathol. 1998 Apr;152(4):953-62.
28. Changes in conjunctival clusterin expression in severe ocular surface disease. Nakamura T, etal., Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1702-7.
29. [Molecular mechanism of pathological keratinization in severe ocular surface diseases]. Nakamura T, Nippon Ganka Gakkai Zasshi. 2004 Nov;108(11):654-64.
30. An oral apoJ peptide renders HDL antiinflammatory in mice and monkeys and dramatically reduces atherosclerosis in apolipoprotein E-null mice. Navab M, etal., Arterioscler Thromb Vasc Biol. 2005 Sep;25(9):1932-7. Epub 2005 Jun 16.
31. Systemic lupus erythematosus, a disease associated with low levels of clusterin/apoJ, an antiinflammatory protein. Newkirk MM, etal., J Rheumatol. 1999 Mar;26(3):597-603.
32. Apolipoproteins J and E co-localise with amyloid in gelatinous drop-like and lattice type I corneal dystrophies. Nishida K, etal., Br J Ophthalmol. 1999 Oct;83(10):1178-82.
33. Small interfering RNA targeted to secretory clusterin blocks tumor growth, motility, and invasion in breast cancer. Niu Z, etal., Acta Biochim Biophys Sin (Shanghai). 2012 Dec;44(12):991-8. doi: 10.1093/abbs/gms091. Epub 2012 Oct 25.
34. Complement activation following optic nerve crush in the adult rat. Ohlsson M, etal., J Neurotrauma. 2003 Sep;20(9):895-904.
35. Plasma clusterin concentrations may predict resistance to intravenous immunoglobulin in patients with Kawasaki disease. Ou-Yang MC, etal., ScientificWorldJournal. 2013 Jul 15;2013:382523. doi: 10.1155/2013/382523. eCollection 2013.
36. Role of an extracellular chaperone, Clusterin in the pathogenesis of Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma. Padhy B, etal., Exp Eye Res. 2014 Jul 21;127C:69-76. doi: 10.1016/j.exer.2014.07.005.
37. Citicoline reduces upregulated clusterin following kainic acid injection in the rat retina. Park CH, etal., Curr Eye Res. 2007 Dec;32(12):1055-63.
38. Overexpression of clusterin in human breast carcinoma. Redondo M, etal., Am J Pathol. 2000 Aug;157(2):393-9.
39. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
40. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
41. Prognostic impact of polymorphisms in the MYBL2 interacting genes in breast cancer. Shi H, etal., Breast Cancer Res Treat. 2012 Feb;131(3):1039-47. doi: 10.1007/s10549-011-1826-2. Epub 2011 Oct 26.
42. Deficiency of clusterin inhibits neointimal hyperplasia after vascular injury. Shirasawa T, etal., J Atheroscler Thromb. 2009;16(6):772-81. Epub 2009 Dec 22.
43. Photoreceptor cells in the vitiligo mouse die by apoptosis. TRPM-2/clusterin expression is increased in the neural retina and in the retinal pigment epithelium. Smith SB, etal., Invest Ophthalmol Vis Sci. 1995 Oct;36(11):2193-201.
44. Apocynin, an NADPH oxidase inhibitor, suppresses rat prostate carcinogenesis. Suzuki S, etal., Cancer Sci. 2013 Dec;104(12):1711-7. doi: 10.1111/cas.12292. Epub 2013 Oct 28.
45. NF-kappaB-dependent genes induced by proteinuria and identified using DNA microarrays. Takase O, etal., Clin Exp Nephrol. 2008 Jun;12(3):181-8. doi: 10.1007/s10157-008-0038-5. Epub 2008 Feb 15.
46. Myc-transformed epithelial cells down-regulate clusterin, which inhibits their growth in vitro and carcinogenesis in vivo. Thomas-Tikhonenko A, etal., Cancer Res. 2004 May 1;64(9):3126-36.
47. Prognostic factors in 105 Japanese cases of mycosis fungoides and Sezary syndrome: clusterin expression as a novel prognostic factor. Tobisawa S, etal., J Dermatol Sci. 2013 Sep;71(3):160-6. doi: 10.1016/j.jdermsci.2013.04.020. Epub 2013 May 2.
48. Urinary cystatin C as a renal biomarker and its immunohistochemical localization in anti-GBM glomerulonephritis rats. Togashi Y, etal., Exp Toxicol Pathol. 2013 Nov;65(7-8):1137-43. doi: 10.1016/j.etp.2013.05.005. Epub 2013 Jun 21.
49. Gene expression profiling in sinonasal adenocarcinoma. Tripodi D, etal., BMC Med Genomics. 2009 Nov 10;2:65. doi: 10.1186/1755-8794-2-65.
50. The effects of ACE inhibitor and angiotensin receptor blocker on clusterin and apoptosis in the kidney tissue of streptozotocin-diabetic rats. Tuncdemir M and Ozturk M, J Mol Histol. 2008 Dec;39(6):605-16. doi: 10.1007/s10735-008-9201-2. Epub 2008 Oct 24.
51. Intravenous clusterin administration reduces myocardial infarct size in rats. Van Dijk A, etal., Eur J Clin Invest. 2010 Oct;40(10):893-902. doi: 10.1111/j.1365-2362.2010.02345.x.
52. Tissue Kim-1 and urinary clusterin as early indicators of cisplatin-induced acute kidney injury in rats. Vinken P, etal., Toxicol Pathol. 2012 Oct;40(7):1049-62. Epub 2012 May 11.
53. Delayed, but prolonged increases in astrocytic clusterin (ApoJ) mRNA expression following acute cortical spreading depression in the rat: evidence for a role of clusterin in ischemic tolerance. Wiggins AK, etal., Brain Res Mol Brain Res 2003 May 26;114(1):20-30.
54. A possible contribution of elevated serum clusterin levels to the inhibition of digital ulcers and pulmonary arterial hypertension in systemic sclerosis. Yanaba K, etal., Arch Dermatol Res. 2012 Aug;304(6):459-63. doi: 10.1007/s00403-012-1219-3. Epub 2012 Feb 17.
55. Plasma clusterin levels in predicting the occurrence of coronary artery lesions in patients with Kawasaki disease. Yu HR, etal., Pediatr Cardiol. 2010 Nov;31(8):1151-6. doi: 10.1007/s00246-010-9769-7. Epub 2010 Aug 15.
56. Clusterin deficiency in eyes with pseudoexfoliation syndrome may be implicated in the aggregation and deposition of pseudoexfoliative material. Zenkel M, etal., Invest Ophthalmol Vis Sci. 2006 May;47(5):1982-90.
57. Urinary biomarkers track the progression of nephropathy in hypertensive and obese rats. Zhang Q, etal., Biomark Med. 2014 Jan;8(1):85-94. doi: 10.2217/bmm.13.106.
Additional References at PubMed
PMID:1424805   PMID:1491011   PMID:1551440   PMID:1585460   PMID:1903064   PMID:1924317   PMID:1974459   PMID:2185274   PMID:2387851   PMID:2454950   PMID:2601725   PMID:2721499  
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PMID:12824284   PMID:12860995   PMID:12867999   PMID:12882985   PMID:14618611   PMID:14630798   PMID:14702039   PMID:14718574   PMID:14760718   PMID:15033782   PMID:15133840   PMID:15146195  
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Genomics

Comparative Map Data
CLU
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38827,596,917 - 27,614,700 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl827,596,917 - 27,614,700 (-)EnsemblGRCh38hg38GRCh38
GRCh37827,454,434 - 27,472,217 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36827,510,368 - 27,528,244 (-)NCBINCBI36Build 36hg18NCBI36
Build 34827,510,367 - 27,524,855NCBI
Celera826,414,541 - 26,432,416 (-)NCBICelera
Cytogenetic Map8p21.1NCBI
HuRef825,999,468 - 26,017,387 (-)NCBIHuRef
CHM1_1827,656,307 - 27,674,217 (-)NCBICHM1_1
T2T-CHM13v2.0827,874,264 - 27,892,057 (-)NCBIT2T-CHM13v2.0
Clu
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391466,205,932 - 66,218,997 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1466,205,932 - 66,218,996 (+)EnsemblGRCm39 Ensembl
GRCm381465,968,483 - 65,981,548 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1465,968,483 - 65,981,547 (+)EnsemblGRCm38mm10GRCm38
MGSCv371466,587,320 - 66,600,382 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361464,922,735 - 64,935,658 (+)NCBIMGSCv36mm8
Celera1451,264,543 - 51,272,775 (-)NCBICelera
Cytogenetic Map14D1NCBI
cM Map1434.36NCBI
Clu
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21540,161,068 - 40,200,315 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1540,174,617 - 40,200,315 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1542,026,339 - 42,065,337 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01543,176,537 - 43,215,535 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01541,621,373 - 41,660,612 (+)NCBIRnor_WKY
Rnor_6.01542,626,612 - 42,665,858 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1542,640,146 - 42,665,857 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01548,926,511 - 48,965,757 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41545,365,779 - 45,405,314 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11545,381,558 - 45,421,094 (+)NCBI
Celera1539,832,711 - 39,871,901 (+)NCBICelera
Cytogenetic Map15p12NCBI
Clu
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540350,160,598 - 50,175,876 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540350,160,598 - 50,175,876 (-)NCBIChiLan1.0ChiLan1.0
CLU
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1821,842,687 - 21,859,551 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0826,867,973 - 26,884,838 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1824,070,053 - 24,086,934 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl824,070,053 - 24,083,523 (-)Ensemblpanpan1.1panPan2
CLU
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12529,982,811 - 29,999,565 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2529,982,811 - 29,999,563 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2530,569,577 - 30,586,344 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02530,173,217 - 30,190,014 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2530,173,100 - 30,195,919 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12530,103,442 - 30,120,185 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02529,984,486 - 30,001,273 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02530,150,889 - 30,167,668 (+)NCBIUU_Cfam_GSD_1.0
Clu
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049438,072,565 - 8,086,406 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936675499,199 - 513,836 (-)EnsemblSpeTri2.0
SpeTri2.0NW_004936675499,745 - 513,515 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CLU
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1411,336,595 - 11,349,764 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11411,336,585 - 11,352,569 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21412,516,644 - 12,527,851 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CLU
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1825,704,441 - 25,721,789 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl825,703,257 - 25,721,789 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605216,420,009 - 16,437,520 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Clu
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475822,426,918 - 22,444,357 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475822,431,331 - 22,444,185 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CLU
23 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3 copy number gain See cases [RCV000050904] Chr8:25832130..48521849 [GRCh38]
Chr8:25689646..49434409 [GRCh37]
Chr8:25745563..49596962 [NCBI36]
Chr8:8p21.2-q11.21
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1 copy number loss See cases [RCV000054237] Chr8:24910364..31210737 [GRCh38]
Chr8:24767877..31068253 [GRCh37]
Chr8:24823781..31187795 [NCBI36]
Chr8:8p21.2-12
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1 copy number loss See cases [RCV000136120] Chr8:24910364..31196357 [GRCh38]
Chr8:24767877..31053873 [GRCh37]
Chr8:24823781..31173415 [NCBI36]
Chr8:8p21.2-12
pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_001831.3(CLU):c.1017G>A (p.Arg339=) single nucleotide variant Malignant melanoma [RCV000068271] Chr8:27599927 [GRCh38]
Chr8:27457444 [GRCh37]
Chr8:27513361 [NCBI36]
Chr8:8p21.1
not provided
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1 copy number loss See cases [RCV000138081] Chr8:25171103..31750600 [GRCh38]
Chr8:25028618..31608116 [GRCh37]
Chr8:25084535..31727658 [NCBI36]
Chr8:8p21.2-12
pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3 copy number gain See cases [RCV000203434] Chr8:20478546..28986438 [GRCh37]
Chr8:8p21.3-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12
pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p21.2-12(chr8:24514488-34808438) copy number gain See cases [RCV000448582] Chr8:24514488..34808438 [GRCh37]
Chr8:8p21.2-12
pathogenic
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12
not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12
pathogenic
NM_001831.4(CLU):c.608C>T (p.Thr203Ile) single nucleotide variant Alzheimer disease [RCV000590968]|not provided [RCV000955185] Chr8:27605145 [GRCh38]
Chr8:27462662 [GRCh37]
Chr8:8p21.1
likely benign
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
NM_001831.4(CLU):c.756C>T (p.His252=) single nucleotide variant not provided [RCV000904406] Chr8:27604997 [GRCh38]
Chr8:27462514 [GRCh37]
Chr8:8p21.1
likely benign
NM_001831.4(CLU):c.382G>A (p.Val128Ile) single nucleotide variant not provided [RCV000901031] Chr8:27606389 [GRCh38]
Chr8:27463906 [GRCh37]
Chr8:8p21.1
benign
NM_001831.4(CLU):c.705C>T (p.Tyr235=) single nucleotide variant not provided [RCV000983110] Chr8:27605048 [GRCh38]
Chr8:27462565 [GRCh37]
Chr8:8p21.1
likely benign
NM_001831.4(CLU):c.984C>T (p.Asp328=) single nucleotide variant not provided [RCV000971373] Chr8:27599960 [GRCh38]
Chr8:27457477 [GRCh37]
Chr8:8p21.1
benign
GRCh37/hg19 8p21.2-21.1(chr8:24305969-28673405)x1 copy number loss not provided [RCV001006090] Chr8:24305969..28673405 [GRCh37]
Chr8:8p21.2-21.1
pathogenic
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_001831.4(CLU):c.417+8G>C single nucleotide variant not provided [RCV000925508] Chr8:27606346 [GRCh38]
Chr8:27463863 [GRCh37]
Chr8:8p21.1
benign
NM_001831.4(CLU):c.564C>T (p.Asp188=) single nucleotide variant not provided [RCV000922206] Chr8:27605189 [GRCh38]
Chr8:27462706 [GRCh37]
Chr8:8p21.1
likely benign
NM_001831.4(CLU):c.999C>T (p.Val333=) single nucleotide variant not provided [RCV000915760] Chr8:27599945 [GRCh38]
Chr8:27457462 [GRCh37]
Chr8:8p21.1
likely benign
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_001831.4(CLU):c.1314G>T (p.Ala438=) single nucleotide variant not provided [RCV000885211] Chr8:27598486 [GRCh38]
Chr8:27456003 [GRCh37]
Chr8:8p21.1
likely benign
NM_001831.4(CLU):c.123C>T (p.Tyr41=) single nucleotide variant not provided [RCV000888113] Chr8:27609061 [GRCh38]
Chr8:27466578 [GRCh37]
Chr8:8p21.1
benign
NM_001831.4(CLU):c.75G>A (p.Thr25=) single nucleotide variant not provided [RCV000974218] Chr8:27610497 [GRCh38]
Chr8:27468014 [GRCh37]
Chr8:8p21.1
likely benign
NM_001831.4(CLU):c.1191C>T (p.Asp397=) single nucleotide variant not provided [RCV000910373] Chr8:27598609 [GRCh38]
Chr8:27456126 [GRCh37]
Chr8:8p21.1
benign
NM_001831.4(CLU):c.954C>G (p.Pro318=) single nucleotide variant not provided [RCV000956582] Chr8:27599990 [GRCh38]
Chr8:27457507 [GRCh37]
Chr8:8p21.1
benign
NM_001831.4(CLU):c.982G>A (p.Asp328Asn) single nucleotide variant not provided [RCV000956581] Chr8:27599962 [GRCh38]
Chr8:27457479 [GRCh37]
Chr8:8p21.1
benign
NM_001831.4(CLU):c.1187C>T (p.Ser396Leu) single nucleotide variant not provided [RCV000888734] Chr8:27598613 [GRCh38]
Chr8:27456130 [GRCh37]
Chr8:8p21.1
benign
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NC_000008.10:g.(?_27319146)_(28608383_?)dup duplication Autosomal dominant nocturnal frontal lobe epilepsy [RCV003107941]|not provided [RCV002043387] Chr8:27319146..28608383 [GRCh37]
Chr8:8p21.2-21.1
uncertain significance
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
GRCh37/hg19 8p21.2-12(chr8:27064033-28832392)x3 copy number gain not provided [RCV002472907] Chr8:27064033..28832392 [GRCh37]
Chr8:8p21.2-12
uncertain significance
GRCh37/hg19 8p21.1(chr8:27417421-27643275)x3 copy number gain not provided [RCV001259473] Chr8:27417421..27643275 [GRCh37]
Chr8:8p21.1
uncertain significance
GRCh37/hg19 8p21.2-11.22(chr8:26808969-38346383)x1 copy number loss not provided [RCV002472596] Chr8:26808969..38346383 [GRCh37]
Chr8:8p21.2-11.22
pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 copy number loss See cases [RCV002286343] Chr8:158048..30187456 [GRCh37]
Chr8:8p23.3-12
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6301
Count of miRNA genes:1166
Interacting mature miRNAs:1450
Transcripts:ENST00000316403, ENST00000405140, ENST00000518050, ENST00000519472, ENST00000519742, ENST00000520491, ENST00000520796, ENST00000521770, ENST00000522098, ENST00000522238, ENST00000522299, ENST00000522413, ENST00000522502, ENST00000523396, ENST00000523500, ENST00000523589, ENST00000546343, ENST00000560366, ENST00000560566
Prediction methods:Microtar, Miranda, Rnahybrid
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.

Markers in Region
RH27907  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37827,455,543 - 27,455,673UniSTSGRCh37
Build 36827,511,460 - 27,511,590RGDNCBI36
Celera826,415,633 - 26,415,763RGD
Cytogenetic Map8p21-p12UniSTS
HuRef826,000,577 - 26,000,707UniSTS
PMC310777P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37827,455,614 - 27,456,150UniSTSGRCh37
Build 36827,511,531 - 27,512,067RGDNCBI36
Celera826,415,704 - 26,416,240RGD
Cytogenetic Map8p21-p12UniSTS
HuRef826,000,648 - 26,001,184UniSTS
RH11712  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37827,456,005 - 27,456,110UniSTSGRCh37
Build 36827,511,922 - 27,512,027RGDNCBI36
Celera826,416,095 - 26,416,200RGD
Cytogenetic Map8p21-p12UniSTS
HuRef826,001,039 - 26,001,144UniSTS
GeneMap99-GB4 RH Map8108.79UniSTS
NCBI RH Map8339.8UniSTS
STS-J02908  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37827,456,012 - 27,456,150UniSTSGRCh37
Build 36827,511,929 - 27,512,067RGDNCBI36
Celera826,416,102 - 26,416,240RGD
Cytogenetic Map8p21-p12UniSTS
HuRef826,001,046 - 26,001,184UniSTS
GeneMap99-GB4 RH Map8108.09UniSTS


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 59 993 668 183 7 174 714 34 1792 51 336 337 10 2 713
Medium 2301 1908 1046 439 1288 287 3187 1716 1913 355 1091 1189 161 1202 1695 2
Low 68 86 7 2 288 4 437 443 27 13 29 65 3 1 380 2 2
Below cutoff 5 3 3 263 15 2 2 2 19 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_027845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_038335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_045494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide A21577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF311103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY172563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY184486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY341244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY513288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF528374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG819541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG914262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM682289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM723283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP193735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ181025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ181739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX418836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX459023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN990822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ004564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ006268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ012938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EB385800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI179162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI179164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J02908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L00974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M25915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M26639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M64722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M74816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X14723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000316403   ⟹   ENSP00000315130
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,596,917 - 27,614,700 (-)Ensembl
RefSeq Acc Id: ENST00000405140   ⟹   ENSP00000385419
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,597,808 - 27,611,431 (-)Ensembl
RefSeq Acc Id: ENST00000518050
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,608,541 - 27,614,700 (-)Ensembl
RefSeq Acc Id: ENST00000519472   ⟹   ENSP00000427868
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,608,937 - 27,614,681 (-)Ensembl
RefSeq Acc Id: ENST00000519742   ⟹   ENSP00000431026
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,606,354 - 27,611,966 (-)Ensembl
RefSeq Acc Id: ENST00000520491   ⟹   ENSP00000429881
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,606,364 - 27,611,218 (-)Ensembl
RefSeq Acc Id: ENST00000520796   ⟹   ENSP00000429336
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,605,141 - 27,611,205 (-)Ensembl
RefSeq Acc Id: ENST00000521770   ⟹   ENSP00000428033
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,598,143 - 27,600,015 (-)Ensembl
RefSeq Acc Id: ENST00000522098   ⟹   ENSP00000430821
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,598,537 - 27,605,339 (-)Ensembl
RefSeq Acc Id: ENST00000522238   ⟹   ENSP00000429087
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,610,476 - 27,614,243 (-)Ensembl
RefSeq Acc Id: ENST00000522299
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,597,996 - 27,614,693 (-)Ensembl
RefSeq Acc Id: ENST00000522413   ⟹   ENSP00000428779
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,606,382 - 27,614,692 (-)Ensembl
RefSeq Acc Id: ENST00000522502
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,604,218 - 27,605,339 (-)Ensembl
RefSeq Acc Id: ENST00000523396   ⟹   ENSP00000428526
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,608,937 - 27,614,698 (-)Ensembl
RefSeq Acc Id: ENST00000523500   ⟹   ENSP00000429620
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,597,996 - 27,611,357 (-)Ensembl
RefSeq Acc Id: ENST00000523589   ⟹   ENSP00000431070
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,604,310 - 27,614,690 (-)Ensembl
RefSeq Acc Id: ENST00000560566   ⟹   ENSP00000453247
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,604,366 - 27,611,751 (-)Ensembl
RefSeq Acc Id: NM_001831   ⟹   NP_001822
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,596,917 - 27,614,700 (-)NCBI
Build 36827,510,368 - 27,528,244 (-)NCBI Archive
HuRef825,999,468 - 26,017,387 (-)NCBI
CHM1_1827,656,307 - 27,674,217 (-)NCBI
T2T-CHM13v2.0827,874,264 - 27,892,057 (-)NCBI
Sequence:
RefSeq Acc Id: NR_038335
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,596,917 - 27,611,371 (-)NCBI
GRCh37827,454,434 - 27,472,328 (-)ENTREZGENE
HuRef825,999,468 - 26,017,387 (-)ENTREZGENE
CHM1_1827,656,307 - 27,670,835 (-)NCBI
T2T-CHM13v2.0827,874,264 - 27,888,729 (-)NCBI
Sequence:
RefSeq Acc Id: NR_045494
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,596,917 - 27,611,751 (-)NCBI
GRCh37827,454,434 - 27,472,328 (-)NCBI
HuRef825,999,468 - 26,017,387 (-)NCBI
CHM1_1827,656,307 - 27,671,149 (-)NCBI
T2T-CHM13v2.0827,874,264 - 27,889,109 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001822   ⟸   NM_001831
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q7Z5B9 (UniProtKB/Swiss-Prot),   P10909 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000427868   ⟸   ENST00000519472
RefSeq Acc Id: ENSP00000431026   ⟸   ENST00000519742
RefSeq Acc Id: ENSP00000429881   ⟸   ENST00000520491
RefSeq Acc Id: ENSP00000429336   ⟸   ENST00000520796
RefSeq Acc Id: ENSP00000453247   ⟸   ENST00000560566
RefSeq Acc Id: ENSP00000428033   ⟸   ENST00000521770
RefSeq Acc Id: ENSP00000429087   ⟸   ENST00000522238
RefSeq Acc Id: ENSP00000430821   ⟸   ENST00000522098
RefSeq Acc Id: ENSP00000428779   ⟸   ENST00000522413
RefSeq Acc Id: ENSP00000385419   ⟸   ENST00000405140
RefSeq Acc Id: ENSP00000429620   ⟸   ENST00000523500
RefSeq Acc Id: ENSP00000431070   ⟸   ENST00000523589
RefSeq Acc Id: ENSP00000428526   ⟸   ENST00000523396
RefSeq Acc Id: ENSP00000315130   ⟸   ENST00000316403
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P10909-F1-model_v2 AlphaFold P10909 1-449 view protein structure

Promoters
RGD ID:6806474
Promoter ID:HG_KWN:60998
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:UC003XFW.1,   UC010LUX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36827,523,726 - 27,524,226 (-)MPROMDB
RGD ID:6806570
Promoter ID:HG_KWN:60999
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000405140,   NM_203339,   UC003XFY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36827,524,626 - 27,525,527 (-)MPROMDB
RGD ID:6806646
Promoter ID:HG_KWN:61000
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:ENST00000316403,   OTTHUMT00000219953
Position:
Human AssemblyChrPosition (strand)Source
Build 36827,527,751 - 27,528,251 (-)MPROMDB
RGD ID:6850782
Promoter ID:EP73185
Type:single initiation site
Name:HS_CLU
Description:Clusterin (complement lysis inhibitor, SP-40,40, sulfatedglycoprotein 2, testosterone-repressed prostate message 2,apolipoprotein J).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36827,528,136 - 27,528,196EPD
RGD ID:7212957
Promoter ID:EPDNEW_H12224
Type:initiation region
Name:CLU_1
Description:clusterin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,614,700 - 27,614,760EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2095 AgrOrtholog
COSMIC CLU COSMIC
Ensembl Genes ENSG00000120885 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000315130 ENTREZGENE
  ENSP00000315130.10 UniProtKB/Swiss-Prot
  ENSP00000385419.3 UniProtKB/Swiss-Prot
  ENSP00000427868.1 UniProtKB/TrEMBL
  ENSP00000428033.1 UniProtKB/TrEMBL
  ENSP00000428526.1 UniProtKB/TrEMBL
  ENSP00000428779.1 UniProtKB/TrEMBL
  ENSP00000429087.1 UniProtKB/TrEMBL
  ENSP00000429336.1 UniProtKB/TrEMBL
  ENSP00000429620.1 UniProtKB/Swiss-Prot
  ENSP00000429881.1 UniProtKB/TrEMBL
  ENSP00000430821.1 UniProtKB/TrEMBL
  ENSP00000431026.1 UniProtKB/TrEMBL
  ENSP00000431070.1 UniProtKB/TrEMBL
  ENSP00000453247.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000316403 ENTREZGENE
  ENST00000316403.15 UniProtKB/Swiss-Prot
  ENST00000405140.7 UniProtKB/Swiss-Prot
  ENST00000519472.5 UniProtKB/TrEMBL
  ENST00000519742.5 UniProtKB/TrEMBL
  ENST00000520491.5 UniProtKB/TrEMBL
  ENST00000520796.5 UniProtKB/TrEMBL
  ENST00000521770.1 UniProtKB/TrEMBL
  ENST00000522098.1 UniProtKB/TrEMBL
  ENST00000522238.1 UniProtKB/TrEMBL
  ENST00000522413.5 UniProtKB/TrEMBL
  ENST00000523396.1 UniProtKB/TrEMBL
  ENST00000523500.5 UniProtKB/Swiss-Prot
  ENST00000523589.5 UniProtKB/TrEMBL
  ENST00000560566.5 UniProtKB/TrEMBL
GTEx ENSG00000120885 GTEx
HGNC ID HGNC:2095 ENTREZGENE
Human Proteome Map CLU Human Proteome Map
InterPro Clusterin UniProtKB/Swiss-Prot
  Clusterin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Clusterin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Clusterin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Clusterin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1191 UniProtKB/Swiss-Prot
NCBI Gene 1191 ENTREZGENE
OMIM 185430 OMIM
PANTHER PTHR10970 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10970:SF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Clusterin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26620 PharmGKB
PIRSF Clusterin UniProtKB/Swiss-Prot
PROSITE CLUSTERIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CLUSTERIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CLa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CLb UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt CLUS_HUMAN UniProtKB/Swiss-Prot
  E5RG36_HUMAN UniProtKB/TrEMBL
  E5RGB0_HUMAN UniProtKB/TrEMBL
  E5RH61_HUMAN UniProtKB/TrEMBL
  E5RJD6_HUMAN UniProtKB/TrEMBL
  E5RJZ5_HUMAN UniProtKB/TrEMBL
  E7ERK6_HUMAN UniProtKB/TrEMBL
  E7ETB4_HUMAN UniProtKB/TrEMBL
  H0YAS8_HUMAN UniProtKB/TrEMBL
  H0YC35_HUMAN UniProtKB/TrEMBL
  H0YLK8_HUMAN UniProtKB/TrEMBL
  P10909 ENTREZGENE
  Q7Z5B9 ENTREZGENE
  Q8IWM0_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2R9Q1 UniProtKB/Swiss-Prot
  B3KSE6 UniProtKB/Swiss-Prot
  P11380 UniProtKB/Swiss-Prot
  P11381 UniProtKB/Swiss-Prot
  Q2TU75 UniProtKB/Swiss-Prot
  Q5HYC1 UniProtKB/Swiss-Prot
  Q7Z5B9 UniProtKB/Swiss-Prot