MUC5AC (mucin 5AC, oligomeric mucus/gel-forming) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: MUC5AC (mucin 5AC, oligomeric mucus/gel-forming) Homo sapiens
Analyze
Symbol: MUC5AC
Name: mucin 5AC, oligomeric mucus/gel-forming
RGD ID: 737024
HGNC Page HGNC:7515
Description: Predicted to enable extracellular matrix constituent, lubricant activity. Predicted to be an extracellular matrix structural constituent. Predicted to act upstream of or within maintenance of lens transparency. Located in extracellular space and mucus layer. Implicated in dry eye syndrome. Biomarker of several diseases, including Sjogren's syndrome; biliary tract disease (multiple); cystic fibrosis; eye disease (multiple); and pancreatic cancer (multiple).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: gastric mucin; leB; lewis B blood group antigen; major airway glycoprotein; MUC-5AC; MUC5; mucin; mucin 5, subtypes a and c; mucin 5, subtypes A and C, tracheobronchial/gastric; mucin 5AC, oligomeric mucus/gel-forming pseudogene; mucin-5 subtype AC, tracheobronchial; mucin-5AC; TBM; tracheobronchial mucin
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Annotation category: suggests misassembly
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38111,157,953 - 1,201,138 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl111,157,953 - 1,201,138 (+)EnsemblGRCh38hg38GRCh38
GRCh37111,151,580 - 1,222,364 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,169,363 - 1,178,940 (+)NCBINCBI36Build 36hg18NCBI36
Build 34111,141,594 - 1,152,361NCBI
Celera111,216,270 - 1,325,135 (+)NCBICelera
Cytogenetic Map11p15.5NCBI
HuRef11979,261 - 1,006,024 (+)NCBIHuRef
CHM1_1111,141,384 - 1,221,279 (+)NCBICHM1_1
T2T-CHM13v2.0111,229,366 - 1,272,380 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(E)-roxithromycin  (ISO)
(R,R,R)-alpha-tocopherol  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,2-dimethylhydrazine  (ISO)
1,4-naphthoquinone  (ISO)
1,8-cineole  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
4,4'-sulfonyldiphenol  (ISO)
6alpha-methylprednisolone  (ISO)
8'-apo-beta,psi-caroten-8'-al  (EXP)
9-cis-retinoic acid  (EXP)
acrolein  (EXP,ISO)
afatinib  (EXP)
aflatoxin B1  (EXP)
aflatoxin M1  (EXP)
alizarin  (EXP)
all-trans-4-hydroxyretinoic acid  (EXP)
all-trans-4-oxoretinoic acid  (EXP)
all-trans-4-oxoretinol  (EXP)
all-trans-retinoic acid  (EXP)
all-trans-retinol  (EXP)
allyl isothiocyanate  (EXP)
aluminium hydroxide  (ISO)
amitrole  (EXP)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
astragaloside IV  (ISO)
Atractylodin  (EXP,ISO)
benzo[a]pyrene  (EXP)
benzo[b]fluoranthene  (EXP)
beta-carotene  (EXP)
bisphenol A  (ISO)
bleomycin A2  (EXP,ISO)
butanal  (EXP)
cadmium dichloride  (EXP)
capsaicin  (EXP)
capsazepine  (EXP)
carbon nanotube  (ISO)
ceric oxide  (EXP,ISO)
CHIR 99021  (EXP)
chlorphenamine  (EXP)
chromium(6+)  (ISO)
citric acid  (EXP)
coniferyl aldehyde  (EXP)
curcumin  (EXP)
decabromodiphenyl ether  (EXP)
deoxynivalenol  (EXP)
desferrioxamine B  (EXP)
dihydroxyacetone  (EXP)
dimethyl sulfoxide  (EXP)
dioscin  (ISO)
dioxygen  (ISO)
elemental selenium  (EXP)
emodin  (ISO)
erlotinib hydrochloride  (ISO)
ethyl methanesulfonate  (EXP)
euxanthone  (EXP)
Fidarestat  (EXP)
flavonoids  (ISO)
fluoranthene  (EXP)
formaldehyde  (EXP)
fumonisin B1  (EXP)
gamma-tocopherol  (ISO)
gefitinib  (EXP)
glycerol  (ISO)
glycyrrhizinic acid  (EXP)
histamine  (EXP)
hydrogen peroxide  (EXP)
icariin  (ISO)
kaempferol  (EXP)
lead diacetate  (ISO)
leukotriene B4  (ISO)
leukotriene C4  (ISO)
leukotriene D4  (ISO)
leukotriene E4  (ISO)
lipopolysaccharide  (EXP,ISO)
lixisenatide  (EXP)
LY294002  (EXP)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
mevalonic acid  (EXP)
MitoTEMPO  (EXP)
MK 571  (ISO)
N-acetyl-L-cysteine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
naringin  (EXP,ISO)
nickel atom  (ISO)
Niflumic acid  (EXP)
Nivalenol  (EXP)
nobiletin  (ISO)
ochratoxin A  (EXP)
ozone  (EXP,ISO)
Paeonol  (ISO)
paracetamol  (ISO)
paraquat  (EXP)
phorbol 13-acetate 12-myristate  (EXP,ISO)
platycodin D  (EXP)
platycodin D3  (EXP)
potassium dichromate  (ISO)
pyrrolidine dithiocarbamate  (EXP)
quercetin  (EXP)
reactive oxygen species  (EXP)
resveratrol  (EXP,ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 203580  (EXP)
scopolamine  (ISO)
selenium atom  (EXP)
simvastatin  (EXP,ISO)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
StemRegenin 1  (EXP)
sulforaphane  (ISO)
tebuconazole  (EXP)
theaflavin  (ISO)
Theaflavin 3,3'-digallate  (ISO)
tobramycin  (EXP)
triamcinolone acetonide  (ISO)
trimellitic anhydride  (ISO)
triptonide  (ISO)
tyrphostin AG 1478  (EXP)
vanadium atom  (EXP)
vanadium(0)  (EXP)
zearalenone  (EXP)
zileuton  (ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Gastric mucin phenotype defines tumour progression and prognosis of intrahepatic cholangiocarcinoma: gastric foveolar type is associated with aggressive tumour behaviour. Aishima S, etal., Histopathology. 2006 Jul;49(1):35-44.
2. Altered expression of MUC2, MUC4, and MUC5 mucin genes in pancreas tissues and cancer cell lines. Balague C, etal., Gastroenterology. 1994 Apr;106(4):1054-61.
3. In situ hybridization shows distinct patterns of mucin gene expression in normal, benign, and malignant pancreas tissues. Balague C, etal., Gastroenterology. 1995 Sep;109(3):953-64.
4. Prognostic value of serum MUC5AC mucin in patients with cholangiocarcinoma. Boonla C, etal., Cancer. 2003 Oct 1;98(7):1438-43.
5. MUC1 and MUC5AC mucin expression in liver fluke-associated intrahepatic cholangiocarcinoma. Boonla C, etal., World J Gastroenterol. 2005 Aug 28;11(32):4939-46.
6. Effect of Myrtol standardized on mucus hypersecretion and clearance of Pseudomonas aeruginosa in a rat model of chronic obstructive pulmonary disease. Cao L, etal., Arzneimittelforschung. 2011;61(12):685-92. doi: 10.1055/s-0031-1300588.
7. Mucinous nonneoplastic cyst of the pancreas: apomucin phenotype distinguishes this entity from intraductal papillary mucinous neoplasm. Cao W, etal., Hum Pathol. 2010 Apr;41(4):513-21. Epub 2009 Dec 1.
8. MUC5AC expression is increased in bronchial submucosal glands of stable COPD patients. Caramori G, etal., Histopathology. 2009 Sep;55(3):321-31.
9. Phenotypic alterations of mucins and cytokeratins during gallbladder carcinogenesis. Chang HJ, etal., Pathol Int. 2004 Aug;54(8):576-84.
10. In vivo characterization of the molecular-genetic changes in gastric mucosa during the development of acute gastritis and stress ulceration. Choo D, etal., J Trauma. 2002 Apr;52(4):720-5; discussion 725-6.
11. Roflumilast, a phosphodiesterase 4 inhibitor, alleviates bleomycin-induced lung injury. Cortijo J, etal., Br J Pharmacol. 2009 Feb;156(3):534-44.
12. Alterations of the ocular surface epithelial MUC16 and goblet cell MUC5AC in patients with atopic keratoconjunctivitis. Dogru M, etal., Allergy. 2008 Oct;63(10):1324-34. doi: 10.1111/j.1398-9995.2008.01781.x.
13. Ocular surface and MUC5AC alterations in atopic patients with corneal shield ulcers. Dogru M, etal., Curr Eye Res. 2005 Oct;30(10):897-908.
14. Mucin deficiency causes functional and structural changes of the ocular surface. Floyd AM, etal., PLoS One. 2012;7(12):e50704. doi: 10.1371/journal.pone.0050704. Epub 2012 Dec 18.
15. Spatial and temporal expression of CCR3 and the common beta chain of the IL-3, IL-5 and GM-CSF receptor in the nasal epithelium and lymphoid tissues in a rat model of allergic rhinitis. Fortin M, etal., Cytokine. 2010 Aug 7.
16. Effect of Bifidobacterium bifidum BF-1 on gastric protection and mucin production in an acute gastric injury rat model. Gomi A, etal., J Dairy Sci. 2013 Feb;96(2):832-7. doi: 10.3168/jds.2012-5950. Epub 2012 Nov 29.
17. Respiratory syncytial virus in allergic lung inflammation increases Muc5ac and gob-5. Hashimoto K, etal., Am J Respir Crit Care Med. 2004 Aug 1;170(3):306-12. Epub 2004 May 6.
18. Mucin gene deficiency in mice impairs host resistance to an enteric parasitic infection. Hasnain SZ, etal., Gastroenterology. 2010 May;138(5):1763-71. doi: 10.1053/j.gastro.2010.01.045. Epub 2010 Feb 4.
19. MUC5AC and MUC5B mucins increase in cystic fibrosis airway secretions during pulmonary exacerbation. Henke MO, etal., Am J Respir Crit Care Med. 2007 Apr 15;175(8):816-21. Epub 2007 Jan 25.
20. Rhinovirus induces MUC5AC in a human infection model and in vitro via NF-kappaB and EGFR pathways. Hewson CA, etal., Eur Respir J. 2010 Dec;36(6):1425-35. Epub 2010 Jun 4.
21. Differences in the expression of mucins in various forms of cystitis glandularis. Jankovic Velickovic L, etal., Pathol Res Pract. 2007;203(9):653-8. Epub 2007 Jul 30.
22. MUC5AC expression in human middle ear epithelium of patients with otitis media. Kerschner JE, etal., Arch Otolaryngol Head Neck Surg. 2010 Aug;136(8):819-24. doi: 10.1001/archoto.2010.123.
23. Effects of normal saline and selenium-enriched hot spring water on experimentally induced rhinosinusitis in rats. Kim DH and Yeo SW, Int J Pediatr Otorhinolaryngol. 2013 Jan;77(1):117-22. doi: 10.1016/j.ijporl.2012.10.008. Epub 2012 Nov 3.
24. Panax ginseng ameliorates airway inflammation in an ovalbumin-sensitized mouse allergic asthma model. Kim DY and Yang WM, J Ethnopharmacol. 2011 Jun 14;136(1):230-5. doi: 10.1016/j.jep.2011.04.048. Epub 2011 Apr 28.
25. Relation of epidermal growth factor receptor expression to mucus hypersecretion in diffuse panbronchiolitis. Kim JH, etal., Chest. 2004 Sep;126(3):888-95.
26. Up-regulation of MUC5AC mRNA expression in endotoxin-induced otitis media. Kim YT, etal., Acta Otolaryngol. 2001 Apr;121(3):364-70.
27. Altered mucin gene expression in stone-containing intrahepatic bile ducts and cholangiocarcinomas. Lee KT and Liu TS, Dig Dis Sci. 2001 Oct;46(10):2166-72.
28. Effects of sulfur dioxide on the expressions of MUC5AC and ICAM-1 in airway of asthmatic rats. Li R, etal., Regul Toxicol Pharmacol. 2007 Aug;48(3):284-91. Epub 2007 May 21.
29. [Toll-like receptor 2 and Toll-like receptor 4 participates in mediation of acute otitis media and mortality in pneumococcal infections in mice]. Li SL, etal., Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2011 Dec;46(12):1009-18.
30. A mouse dry eye model induced by topical administration of benzalkonium chloride. Lin Z, etal., Mol Vis. 2011 Jan 25;17:257-64.
31. The tear fluid mucin 5AC change of primary angle-closure glaucoma patients after short-term medications and phacotrabeculectomy. Liu W, etal., Mol Vis. 2010 Nov 9;16:2342-6.
32. [Expression of MUC5AC in human nasal polyp and inferior turbinate epithelium]. Lü H, etal., Lin Chuang Er Bi Yan Hou Ke Za Zhi. 2004 Nov;18(11):649-50.
33. Oral N-acetylcysteine reduces bleomycin-induced lung damage and mucin Muc5ac expression in rats. Mata M, etal., Eur Respir J. 2003 Dec;22(6):900-5.
34. MUC4 and MUC5AC are highly specific tumour-associated mucins in biliary tract cancer. Matull WR, etal., Br J Cancer. 2008 May 20;98(10):1675-81. Epub 2008 May 13.
35. Gastric mucosal protection via enhancement of MUC5AC and MUC6 by geranylgeranylacetone. Nam SY, etal., Dig Dis Sci. 2005 Nov;50(11):2110-20.
36. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
37. Elastase- and LPS-exposed mice display altered responses to rhinovirus infection. Sajjan U, etal., Am J Physiol Lung Cell Mol Physiol. 2009 Nov;297(5):L931-44. Epub 2009 Sep 11.
38. Temporal analysis of goblet cells and mucin gene expression in murine models of allergic asthma. Shahzeidi S, etal., Exp Lung Res. 2003 Dec;29(8):549-65.
39. Neurturin-deficient mice develop dry eye and keratoconjunctivitis sicca. Song XJ, etal., Invest Ophthalmol Vis Sci. 2003 Oct;44(10):4223-9.
40. Trefoil factor family 1, MUC5AC and human leucocyte antigen-DR expression by conjunctival cells in patients with glaucoma treated with chronic drugs: could these markers predict the success of glaucoma surgery? Souchier M, etal., Br J Ophthalmol. 2006 Nov;90(11):1366-9. Epub 2006 Jun 29.
41. The effect of formoterol on airway goblet cell hyperplasia and protein Muc5ac expression in asthmatic mice. Tan YF, etal., Eur Rev Med Pharmacol Sci. 2011 Jul;15(7):743-50.
42. Otitis media in a new mouse model for CHARGE syndrome with a deletion in the Chd7 gene. Tian C, etal., PLoS One. 2012;7(4):e34944. doi: 10.1371/journal.pone.0034944. Epub 2012 Apr 23.
43. Rapid and specific alterations of goblet cell mucin in rat airway and small intestine associated with resistance against Nippostrongylus brasiliensis reinfection. Tsubokawa D, etal., Exp Parasitol. 2012 Mar;130(3):209-17. doi: 10.1016/j.exppara.2012.01.002. Epub 2012 Jan 18.
44. Metaplasia of the duodenum shows a Helicobacter pylori-correlated differentiation into gastric-type protein expression. Van De Bovenkamp JH, etal., Hum Pathol. 2003 Feb;34(2):156-65.
45. Efficacy of a 2-month dietary supplementation with polyunsaturated fatty acids in dry eye induced by scopolamine in a rat model. Viau S, etal., Graefes Arch Clin Exp Ophthalmol. 2009 Aug;247(8):1039-50. Epub 2009 May 5.
46. Gamma-tocopherol attenuates ozone-induced exacerbation of allergic rhinosinusitis in rats. Wagner JG, etal., Toxicol Pathol. 2009 Jun;37(4):481-91. doi: 10.1177/0192623309335630. Epub 2009 Apr 23.
47. Increased expression of human calcium-activated chloride channel 1 gene is correlated with mucus overproduction in Chinese asthmatic airway. Wang K, etal., Cell Biol Int. 2007 Nov;31(11):1388-95. Epub 2007 Jun 29.
48. Increased expression of human calcium-activated chloride channel 1 is correlated with mucus overproduction in the airways of Chinese patients with chronic obstructive pulmonary disease. Wang K, etal., Chin Med J (Engl). 2007 Jun 20;120(12):1051-7.
49. Mucin 5 subtype AC expression and upregulation in the nasal mucosa of allergic rhinitis rats. Wang W and Zheng M, Otolaryngol Head Neck Surg. 2012 Dec;147(6):1012-9. doi: 10.1177/0194599812460977. Epub 2012 Sep 12.
50. Ocular surface and tear functions after topical cyclosporine treatment in dry eye patients with chronic graft-versus-host disease. Wang Y, etal., Bone Marrow Transplant. 2008 Feb;41(3):293-302. Epub 2007 Nov 5.
51. Diagnostic value of mucins (MUC1, MUC2 and MUC5AC) expression profile in endoscopic ultrasound-guided fine-needle aspiration specimens of the pancreas. Wang Y, etal., Int J Cancer. 2007 Dec 15;121(12):2716-22.
52. Expression and localization of MUC1, MUC2, MUC5AC and small intestinal mucin antigen in pancreatic tumors. Yamasaki H, etal., Int J Oncol. 2004 Jan;24(1):107-13.
53. Gene expression of gastric type mucin (MUC5AC) in pancreatic tumors: its relationship with the biological behavior of the tumor. Yonezawa S, etal., Pathol Int. 1999 Jan;49(1):45-54.
54. MUC19 expression in human ocular surface and lacrimal gland and its alteration in Sjogren syndrome patients. Yu DF, etal., Exp Eye Res. 2008 Feb;86(2):403-11. doi: 10.1016/j.exer.2007.11.013. Epub 2007 Nov 28.
55. The prevalence and nature of glycan alterations on specific proteins in pancreatic cancer patients revealed using antibody-lectin sandwich arrays. Yue T, etal., Mol Cell Proteomics. 2009 Jul;8(7):1697-707. Epub 2009 Apr 17.
56. Analysis of the correlations of mucins, inflammatory markers, and clinical tests in dry eye. Zhang J, etal., Cornea. 2013 Jul;32(7):928-32. doi: 10.1097/ICO.0b013e3182801622.
Additional References at PubMed
PMID:7513696   PMID:7657101   PMID:7775418   PMID:7826332   PMID:8948439   PMID:9422745   PMID:9506983   PMID:9588204   PMID:9620876   PMID:10611155   PMID:11062147   PMID:11181995  
PMID:11445551   PMID:11535137   PMID:11919081   PMID:11988092   PMID:11992401   PMID:12042033   PMID:12135769   PMID:12360467   PMID:12391274   PMID:12417511   PMID:12477932   PMID:12507512  
PMID:12527922   PMID:12652076   PMID:12690113   PMID:12820724   PMID:12972643   PMID:14527933   PMID:14535999   PMID:14749330   PMID:14988081   PMID:15235131   PMID:15531749   PMID:15563276  
PMID:15640347   PMID:16142311   PMID:16142316   PMID:16148149   PMID:16188033   PMID:16409634   PMID:16465045   PMID:16475027   PMID:16500622   PMID:16540890   PMID:16552336   PMID:16596179  
PMID:16722930   PMID:16787389   PMID:17148666   PMID:17203232   PMID:17227128   PMID:17237423   PMID:17321686   PMID:17330845   PMID:17333267   PMID:17356062   PMID:17395013   PMID:17401217  
PMID:17471237   PMID:17543073   PMID:17555715   PMID:17565737   PMID:17621824   PMID:17646388   PMID:17703412   PMID:17891046   PMID:17982272   PMID:17991319   PMID:18006877   PMID:18027866  
PMID:18073139   PMID:18163520   PMID:18166592   PMID:18167142   PMID:18201532   PMID:18254322   PMID:18283638   PMID:18285671   PMID:18300795   PMID:18424749   PMID:18539955   PMID:18676374  
PMID:18782768   PMID:18825309   PMID:18834073   PMID:18848467   PMID:18978302   PMID:19059885   PMID:19141355   PMID:19168703   PMID:19199708   PMID:19201815   PMID:19201889   PMID:19258923  
PMID:19266212   PMID:19394453   PMID:19501047   PMID:19556605   PMID:19558858   PMID:19596978   PMID:19671252   PMID:19718656   PMID:19718741   PMID:19789190   PMID:19841186   PMID:19841867  
PMID:19856421   PMID:19924550   PMID:20117097   PMID:20216230   PMID:20338103   PMID:20362698   PMID:20368025   PMID:20422702   PMID:20464982   PMID:20485009   PMID:20503287   PMID:20639461  
PMID:20709182   PMID:20731025   PMID:20734208   PMID:20929551   PMID:20953890   PMID:20972463   PMID:21092491   PMID:21097527   PMID:21131736   PMID:21146919   PMID:21197415   PMID:21211365  
PMID:21249315   PMID:21275604   PMID:21287531   PMID:21300824   PMID:21348892   PMID:21362305   PMID:21418859   PMID:21418911   PMID:21455588   PMID:21502330   PMID:21512244   PMID:21544845  
PMID:21556755   PMID:21622856   PMID:21685325   PMID:21697763   PMID:21815153   PMID:21857919   PMID:21873635   PMID:21998660   PMID:22078291   PMID:22213337   PMID:22220206   PMID:22239058  
PMID:22261707   PMID:22269464   PMID:22275269   PMID:22297031   PMID:22303480   PMID:22348416   PMID:22388989   PMID:22389405   PMID:22391959   PMID:22441738   PMID:22500101   PMID:22610099  
PMID:22676183   PMID:22691042   PMID:22700966   PMID:22748473   PMID:22798432   PMID:23084780   PMID:23112547   PMID:23113953   PMID:23249391   PMID:23252568   PMID:23292004   PMID:23392388  
PMID:23392769   PMID:23464473   PMID:23527003   PMID:23549814   PMID:23551418   PMID:23581859   PMID:23582017   PMID:23602830   PMID:23619266   PMID:23671562   PMID:23768102   PMID:23801416  
PMID:23807779   PMID:23828387   PMID:23828549   PMID:23836919   PMID:23860410   PMID:23953484   PMID:24010879   PMID:24027752   PMID:24065389   PMID:24102466   PMID:24120646   PMID:24332705  
PMID:24429156   PMID:24468034   PMID:24487386   PMID:24556756   PMID:24598137   PMID:24603585   PMID:24717945   PMID:24720799   PMID:24722639   PMID:24797786   PMID:24810798   PMID:24840724  
PMID:24887023   PMID:24901072   PMID:24901817   PMID:24920497   PMID:24935372   PMID:24975020   PMID:25036673   PMID:25108707   PMID:25151557   PMID:25166306   PMID:25298197   PMID:25376946  
PMID:25403854   PMID:25559041   PMID:25605164   PMID:25638393   PMID:25649981   PMID:25704757   PMID:25838093   PMID:26057128   PMID:26100173   PMID:26161982   PMID:26299896   PMID:26318254  
PMID:26420972   PMID:26460568   PMID:26476272   PMID:26722604   PMID:26751774   PMID:26867523   PMID:26871672   PMID:26881964   PMID:26971129   PMID:26980390   PMID:27084849   PMID:27173435  
PMID:27183390   PMID:27193208   PMID:27297822   PMID:27298226   PMID:27324793   PMID:27517516   PMID:27610469   PMID:27729120   PMID:27776277   PMID:27845339   PMID:27845589   PMID:27919041  
PMID:27992432   PMID:28321513   PMID:28430953   PMID:28505002   PMID:28514442   PMID:28602698   PMID:28762513   PMID:28942146   PMID:28946937   PMID:29031476   PMID:29286856   PMID:29289532  
PMID:29408556   PMID:29604272   PMID:29705272   PMID:29767240   PMID:29802623   PMID:29869461   PMID:29878077   PMID:29906464   PMID:29943626   PMID:30061200   PMID:30089720   PMID:30272559  
PMID:30482841   PMID:30552067   PMID:30628655   PMID:30727993   PMID:30759005   PMID:30824926   PMID:30837395   PMID:30909132   PMID:31091453   PMID:31128106   PMID:31362570   PMID:31436131  
PMID:31466461   PMID:31596609   PMID:31732694   PMID:31922915   PMID:32028958   PMID:32076085   PMID:32083303   PMID:32098629   PMID:32208937   PMID:32400877   PMID:32401676   PMID:32776556  
PMID:32992527   PMID:33111394   PMID:33154304   PMID:33232357   PMID:33245816   PMID:33300069   PMID:33332733   PMID:33373033   PMID:33541421   PMID:33760106   PMID:33765317   PMID:33961781  
PMID:33963925   PMID:34019912   PMID:34058148   PMID:34130299   PMID:34167450   PMID:34171599   PMID:34281463   PMID:34288207   PMID:34321852   PMID:34459484   PMID:34534538   PMID:34656442  
PMID:34868022   PMID:34871838   PMID:34969769   PMID:35185017   PMID:35219699   PMID:35384245   PMID:35776514   PMID:35915986   PMID:36012669   PMID:36068759   PMID:36111525   PMID:36189284  
PMID:36244648   PMID:36367122   PMID:36427316   PMID:36495503   PMID:36675209   PMID:36823694   PMID:37146737   PMID:37175794   PMID:39365189  


Genomics

Comparative Map Data
MUC5AC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38111,157,953 - 1,201,138 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl111,157,953 - 1,201,138 (+)EnsemblGRCh38hg38GRCh38
GRCh37111,151,580 - 1,222,364 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,169,363 - 1,178,940 (+)NCBINCBI36Build 36hg18NCBI36
Build 34111,141,594 - 1,152,361NCBI
Celera111,216,270 - 1,325,135 (+)NCBICelera
Cytogenetic Map11p15.5NCBI
HuRef11979,261 - 1,006,024 (+)NCBIHuRef
CHM1_1111,141,384 - 1,221,279 (+)NCBICHM1_1
T2T-CHM13v2.0111,229,366 - 1,272,380 (+)NCBIT2T-CHM13v2.0
Muc5ac
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397141,342,695 - 141,372,964 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7141,342,709 - 141,372,968 (+)EnsemblGRCm39 Ensembl
GRCm387141,788,958 - 141,819,227 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7141,788,972 - 141,819,231 (+)EnsemblGRCm38mm10GRCm38
MGSCv377148,974,916 - 149,005,040 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367148,974,916 - 149,005,040 (+)NCBIMGSCv36mm8
Celera7141,544,129 - 141,573,772 (+)NCBICelera
Cytogenetic Map7F5NCBI
cM Map787.23NCBI
Muc5ac
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81206,293,717 - 206,326,006 (+)NCBIGRCr8
mRatBN7.21196,864,336 - 196,896,475 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1196,864,336 - 196,896,475 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01214,725,482 - 214,756,653 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1214,727,416 - 214,741,252 (+)NCBIRnor6.0rn6Rnor6.0
Rnor_5.01221,642,507 - 221,671,770 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1194,493,496 - 194,524,940 (+)NCBICelera
Cytogenetic Map1q41NCBI
Muc5ac
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495547611,061,405 - 11,084,294 (-)NCBIChiLan1.0ChiLan1.0
MUC5AC
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v293,571,337 - 3,614,623 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1112,783,098 - 2,826,292 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0111,191,223 - 1,234,373 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1111,225,362 - 1,272,411 (+)NCBIpanpan1.1PanPan1.1panPan2
MUC5AC
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11845,471,232 - 45,498,961 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1844,080,267 - 44,110,233 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01846,149,914 - 46,180,208 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11845,598,266 - 45,628,540 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01845,178,618 - 45,208,933 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01845,916,410 - 45,946,691 (+)NCBIUU_Cfam_GSD_1.0
Muc5ac
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947875,887 - 905,133 (+)NCBIHiC_Itri_2
SpeTri2.0NW_004936816129,926 - 159,396 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MUC5AC
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.12757,897 - 790,321 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
MUC5AC
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11981,515 - 1,018,242 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603898,106,473 - 98,148,026 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Muc5ac
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476621,439,023 - 21,461,108 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MUC5AC
37 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3 copy number gain See cases [RCV000050947] Chr11:196966..3377077 [GRCh38]
Chr11:196966..3398307 [GRCh37]
Chr11:186966..3354883 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 copy number gain See cases [RCV000050927] Chr11:196966..4435344 [GRCh38]
Chr11:196966..4456574 [GRCh37]
Chr11:186966..4413150 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5(chr11:758848-1998025)x1 copy number loss See cases [RCV000052645] Chr11:758848..1998025 [GRCh38]
Chr11:758848..2019255 [GRCh37]
Chr11:748848..1975831 [NCBI36]
Chr11:11p15.5
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3 copy number gain See cases [RCV000053614] Chr11:218365..3377077 [GRCh38]
Chr11:218365..3398307 [GRCh37]
Chr11:208365..3354883 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-3624139)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|See cases [RCV000053592] Chr11:196966..3624139 [GRCh38]
Chr11:196966..3645369 [GRCh37]
Chr11:186966..3601945 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:10701-5080415)x2 copy number gain See cases [RCV001310286] Chr11:10701..5080415 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1 copy number loss See cases [RCV000142464] Chr11:1132899..3213923 [GRCh38]
Chr11:1126807..3235153 [GRCh37]
Chr11:1116807..3191729 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 copy number gain See cases [RCV000142890] Chr11:196855..5321874 [GRCh38]
Chr11:196855..5343104 [GRCh37]
Chr11:186855..5299680 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5(chr11:196855-2116185)x3 copy number gain See cases [RCV000142923] Chr11:196855..2116185 [GRCh38]
Chr11:196855..2137415 [GRCh37]
Chr11:186855..2093991 [NCBI36]
Chr11:11p15.5
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3 copy number gain See cases [RCV000446036] Chr11:193187..5291338 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5(chr11:850336-1491561)x1 copy number loss Breast ductal adenocarcinoma [RCV000207296] Chr11:850336..1491561 [GRCh37]
Chr11:11p15.5
uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207104] Chr11:870446..1857751 [GRCh37]
Chr11:11p15.5
uncertain significance
chr11:1092954..1857751 complex variant complex Breast ductal adenocarcinoma [RCV000207239] Chr11:1092954..1857751 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 copy number gain See cases [RCV000449417] Chr11:230615..6644927 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5(chr11:1115899-1261163) copy number loss Abnormal esophagus morphology [RCV000416913] Chr11:1115899..1261163 [GRCh37]
Chr11:11p15.5
likely benign
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Silver-Russell syndrome 1 [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3
pathogenic
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3
pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 copy number gain not provided [RCV000683369] Chr11:230615..9704511 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5(chr11:1027811-1302707)x0 copy number loss not provided [RCV000749892] Chr11:1027811..1302707 [GRCh37]
Chr11:11p15.5
benign
NC_000011.9:g.(?_532616)_(2906985_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001032557] Chr11:532616..2906985 [GRCh37]
Chr11:11p15.5-15.4
uncertain significance
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13
pathogenic
NM_001304359.2(MUC5AC):c.5459G>A (p.Arg1820Gln) single nucleotide variant Keratoconus [RCV003235809] Chr11:1183604 [GRCh38]
Chr11:11p15.5
uncertain significance
NM_001304359.2(MUC5AC):c.3601C>T (p.Arg1201Trp) single nucleotide variant Keratoconus [RCV003235808] Chr11:1180138 [GRCh38]
Chr11:11p15.5
uncertain significance
NC_000011.9:g.(?_612625)_(2193840_?)dup duplication Immunodeficiency 39 [RCV001033372] Chr11:612625..2193840 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5(chr11:230615-1150353)x3 copy number gain not provided [RCV001259592] Chr11:230615..1150353 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3 copy number gain See cases [RCV001263059] Chr11:230615..4851537 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 copy number gain Silver-Russell syndrome 1 [RCV001263222] Chr11:210300..8664358 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NC_000011.9:g.(?_612625)_(2193840_?)dup duplication Autosomal recessive DOPA responsive dystonia [RCV001301561]|Immunodeficiency 39 [RCV001033372] Chr11:612625..2193840 [GRCh37]
Chr11:11p15.5
uncertain significance
NC_000011.9:g.(?_298501)_(4113028_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001316682] Chr11:298501..4113028 [GRCh37]
Chr11:11p15.5-15.4
uncertain significance
NM_001304359.2(MUC5AC):c.14175C>T (p.Cys4725=) single nucleotide variant not provided [RCV004809100] Chr11:1192320 [GRCh38]
Chr11:1213545 [GRCh37]
Chr11:11p15.5
likely benign
GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3 copy number gain not provided [RCV001825269] Chr11:230615..5525355 [GRCh37]
Chr11:11p15.5-15.4
not provided
NC_000011.9:g.(?_721044)_(3988932_?)dup duplication not provided [RCV003113442] Chr11:721044..3988932 [GRCh37]
Chr11:11p15.5-15.4
uncertain significance
NM_001304359.2(MUC5AC):c.211+43T>C single nucleotide variant Lung adenocarcinoma [RCV003129631] Chr11:1161629 [GRCh38]
Chr11:1155246 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2
pathogenic
NC_000011.10:g.(499700_4999400)_(5279346_5279697)del deletion Thalassemia, gamma-delta-beta [RCV000015529] Chr11:4999400..5279346 [GRCh38]
Chr11:11p15.5-15.4
pathogenic
NM_001304359.2(MUC5AC):c.7242A>T (p.Ser2414=) single nucleotide variant Lung adenocarcinoma [RCV003129603] Chr11:1185387 [GRCh38]
Chr11:11p15.5
likely benign
NM_001304359.2(MUC5AC):c.1386+63G>T single nucleotide variant Lung adenocarcinoma [RCV003129675] Chr11:1165823 [GRCh38]
Chr11:1159472 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001304359.2(MUC5AC):c.2093-112C>T single nucleotide variant Lung adenocarcinoma [RCV003129625] Chr11:1174770 [GRCh38]
Chr11:11p15.5
uncertain significance
NM_001304359.2(MUC5AC):c.6811G>T (p.Ala2271Ser) single nucleotide variant Squamous cell carcinoma [RCV003129690] Chr11:1184956 [GRCh38]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5(chr11:461373-2157956)x4 copy number gain not provided [RCV002473945] Chr11:461373..2157956 [GRCh37]
Chr11:11p15.5
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 copy number gain not provided [RCV002472435] Chr11:230616..8250724 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_001304359.2(MUC5AC):c.10898C>T (p.Ala3633Val) single nucleotide variant Squamous cell carcinoma [RCV003129684] Chr11:1189043 [GRCh38]
Chr11:11p15.5
uncertain significance
NM_001304359.2(MUC5AC):c.10301C>T (p.Pro3434Leu) single nucleotide variant Keratoconus [RCV003235810] Chr11:1188446 [GRCh38]
Chr11:11p15.5
uncertain significance
NM_001304359.2(MUC5AC):c.14528C>A (p.Thr4843Asn) single nucleotide variant Lung adenocarcinoma [RCV003129706] Chr11:1192930 [GRCh38]
Chr11:1214155 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001304359.2(MUC5AC):c.9463A>T (p.Thr3155Ser) single nucleotide variant Lung adenocarcinoma [RCV003129693] Chr11:1187608 [GRCh38]
Chr11:11p15.5
uncertain significance
NM_001304359.2(MUC5AC):c.3777-148T>A single nucleotide variant Lung adenocarcinoma [RCV003129660] Chr11:1180991 [GRCh38]
Chr11:11p15.5
uncertain significance
NM_001304359.2(MUC5AC):c.7411G>C (p.Ala2471Pro) single nucleotide variant Squamous cell carcinoma [RCV003129698] Chr11:1185556 [GRCh38]
Chr11:11p15.5
uncertain significance
NM_001304359.2(MUC5AC):c.15862-71G>T single nucleotide variant Lung adenocarcinoma [RCV003129674] Chr11:1197397 [GRCh38]
Chr11:1218623 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001304359.2(MUC5AC):c.14615A>G (p.Glu4872Gly) single nucleotide variant Lung adenocarcinoma [RCV003129700] Chr11:1193519 [GRCh38]
Chr11:1214745 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001304359.2(MUC5AC):c.13785C>T (p.Pro4595=) single nucleotide variant not provided [RCV003424581] Chr11:1191930 [GRCh38]
Chr11:1213155 [GRCh37]
Chr11:11p15.5
likely benign
NM_001304359.2(MUC5AC):c.14274C>A (p.Ala4758=) single nucleotide variant not provided [RCV003424586] Chr11:1192419 [GRCh38]
Chr11:1213644 [GRCh37]
Chr11:11p15.5
likely benign
NM_001304359.2(MUC5AC):c.13476T>C (p.Ala4492=) single nucleotide variant not provided [RCV003424574] Chr11:1191621 [GRCh38]
Chr11:1212846 [GRCh37]
Chr11:11p15.5
likely benign
NM_001304359.2(MUC5AC):c.14091T>C (p.Arg4697=) single nucleotide variant not provided [RCV003424584] Chr11:1192236 [GRCh38]
Chr11:1213461 [GRCh37]
Chr11:11p15.5
likely benign
GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3 copy number gain not provided [RCV003484828] Chr11:192764..3362853 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_001304359.2(MUC5AC):c.13539C>A (p.Pro4513=) single nucleotide variant not provided [RCV003424575] Chr11:1191684 [GRCh38]
Chr11:1212909 [GRCh37]
Chr11:11p15.5
likely benign
NM_001304359.2(MUC5AC):c.285C>T (p.Asp95=) single nucleotide variant not provided [RCV003424573] Chr11:1161980 [GRCh38]
Chr11:1155597 [GRCh37]
Chr11:11p15.5
likely benign
NM_001304359.2(MUC5AC):c.15020A>G (p.Asn5007Ser) single nucleotide variant not provided [RCV003424588] Chr11:1194500 [GRCh38]
Chr11:1215726 [GRCh37]
Chr11:11p15.5
likely benign
NM_001304359.2(MUC5AC):c.15225C>T (p.Arg5075=) single nucleotide variant not provided [RCV003424589] Chr11:1195046 [GRCh38]
Chr11:1216272 [GRCh37]
Chr11:11p15.5
likely benign
NM_001304359.2(MUC5AC):c.14295G>A (p.Val4765=) single nucleotide variant not provided [RCV003424587] Chr11:1192440 [GRCh38]
Chr11:1213665 [GRCh37]
Chr11:11p15.5
likely benign
NM_001304359.2(MUC5AC):c.13596C>T (p.Ala4532=) single nucleotide variant not provided [RCV003424577] Chr11:1191741 [GRCh38]
Chr11:1212966 [GRCh37]
Chr11:11p15.5
likely benign
NM_001304359.2(MUC5AC):c.13668T>C (p.Ala4556=) single nucleotide variant not provided [RCV003424578] Chr11:1191813 [GRCh38]
Chr11:1213038 [GRCh37]
Chr11:11p15.5
likely benign
NM_001304359.2(MUC5AC):c.13926A>G (p.Pro4642=) single nucleotide variant not provided [RCV003424582] Chr11:1192071 [GRCh38]
Chr11:1213296 [GRCh37]
Chr11:11p15.5
likely benign
NM_001304359.2(MUC5AC):c.13572T>C (p.Ala4524=) single nucleotide variant not provided [RCV003424576] Chr11:1191717 [GRCh38]
Chr11:1212942 [GRCh37]
Chr11:11p15.5
likely benign
NM_001304359.2(MUC5AC):c.13719C>T (p.Pro4573=) single nucleotide variant not provided [RCV003424579] Chr11:1191864 [GRCh38]
Chr11:1213089 [GRCh37]
Chr11:11p15.5
likely benign
NM_001304359.2(MUC5AC):c.13725C>G (p.Thr4575=) single nucleotide variant not provided [RCV003424580] Chr11:1191870 [GRCh38]
Chr11:1213095 [GRCh37]
Chr11:11p15.5
likely benign
NM_001304359.2(MUC5AC):c.14034C>G (p.Ala4678=) single nucleotide variant not provided [RCV003424583] Chr11:1192179 [GRCh38]
Chr11:1213404 [GRCh37]
Chr11:11p15.5
likely benign
NM_001304359.2(MUC5AC):c.14190C>T (p.Gly4730=) single nucleotide variant not provided [RCV003424585] Chr11:1192335 [GRCh38]
Chr11:1213560 [GRCh37]
Chr11:11p15.5
likely benign
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3 copy number gain Russell-Silver syndrome [RCV003444025] Chr11:230615..8821443 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_001304359.2(MUC5AC):c.14901C>T (p.Cys4967=) single nucleotide variant not provided [RCV004546382] Chr11:1194255 [GRCh38]
Chr11:1215481 [GRCh37]
Chr11:11p15.5
likely benign
NC_000011.9:g.(?_216698)_(2906719_?)dup duplication Beckwith-Wiedemann syndrome [RCV004580105] Chr11:216698..2906719 [GRCh37]
Chr11:11p15.5-15.4
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1072
Count of miRNA genes:492
Interacting mature miRNAs:552
Transcripts:ENST00000356191, ENST00000358378, ENST00000534821
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597173256GWAS1269330_Hgallstones QTL GWAS1269330 (human)1e-09gallstones1111589501158951Human
597176888GWAS1272962_Hprotein measurement QTL GWAS1272962 (human)5e-31protein measurement1111638591163860Human
597121447GWAS1217521_Hblood protein measurement QTL GWAS1217521 (human)2e-19blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)1111938301193831Human
1558691SCL8_HSerum cholesterol level QTL 8 (human)1.2Lipid levelHDL cholesterol1115227071Human
597616730GWAS1673590_Hgastric ulcer, hemorrhage QTL GWAS1673590 (human)1e-11gastric ulcer, hemorrhage1111606351160636Human
597181469GWAS1277543_Htrefoil factor 1 measurement QTL GWAS1277543 (human)5e-13trefoil factor 1 measurement1112007591200760Human

Markers in Region
RH11428  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera111,260,364 - 1,260,480RGD
Cytogenetic Map11p15.5UniSTS
MUC5AC  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera111,260,352 - 1,260,483RGD
Cytogenetic Map11p15.5UniSTS
GeneMap99-GB4 RH Map110.11UniSTS
NCBI RH Map1110.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1111 2256 2563 1968 4032 1346 1864 410 1198 252 1826 5602 5259 3 3113 541 1542 1354 162

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001304359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AADC01095577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AADD01112371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC139749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC256300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF015521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF016834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF043909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ001402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ001403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ292079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ298317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ298318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ298319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP006588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FO680660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FP326773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ413280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ413281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ511954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC800812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC821598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC821599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC821600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC821601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U06711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X81649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z34276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z34277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z34278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z34279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z34280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z34281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z34282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z34283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z48314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000621226   ⟹   ENSP00000485659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,157,953 - 1,201,138 (+)Ensembl
RefSeq Acc Id: NM_001304359   ⟹   NP_001291288
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,157,953 - 1,201,138 (+)NCBI
CHM1_1111,150,471 - 1,221,279 (+)NCBI
T2T-CHM13v2.0111,229,366 - 1,272,380 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001291288 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA18431 (Get FASTA)   NCBI Sequence Viewer  
  AAC15950 (Get FASTA)   NCBI Sequence Viewer  
  AAC15951 (Get FASTA)   NCBI Sequence Viewer  
  AAC19168 (Get FASTA)   NCBI Sequence Viewer  
  AAC41774 (Get FASTA)   NCBI Sequence Viewer  
  AAH33831 (Get FASTA)   NCBI Sequence Viewer  
  AFG72987 (Get FASTA)   NCBI Sequence Viewer  
  AGI42861 (Get FASTA)   NCBI Sequence Viewer  
  AGI42862 (Get FASTA)   NCBI Sequence Viewer  
  AGI42863 (Get FASTA)   NCBI Sequence Viewer  
  AGI42864 (Get FASTA)   NCBI Sequence Viewer  
  AGR44427 (Get FASTA)   NCBI Sequence Viewer  
  CAA04737 (Get FASTA)   NCBI Sequence Viewer  
  CAA04738 (Get FASTA)   NCBI Sequence Viewer  
  CAA57309 (Get FASTA)   NCBI Sequence Viewer  
  CAA84030 (Get FASTA)   NCBI Sequence Viewer  
  CAA84031 (Get FASTA)   NCBI Sequence Viewer  
  CAA84032 (Get FASTA)   NCBI Sequence Viewer  
  CAA84033 (Get FASTA)   NCBI Sequence Viewer  
  CAA84034 (Get FASTA)   NCBI Sequence Viewer  
  CAA84035 (Get FASTA)   NCBI Sequence Viewer  
  CAA84036 (Get FASTA)   NCBI Sequence Viewer  
  CAA84037 (Get FASTA)   NCBI Sequence Viewer  
  CAA88307 (Get FASTA)   NCBI Sequence Viewer  
  CAC44892 (Get FASTA)   NCBI Sequence Viewer  
  CAC83674 (Get FASTA)   NCBI Sequence Viewer  
  CAC83675 (Get FASTA)   NCBI Sequence Viewer  
  CAC83676 (Get FASTA)   NCBI Sequence Viewer  
  CAH56330 (Get FASTA)   NCBI Sequence Viewer  
  EAX02424 (Get FASTA)   NCBI Sequence Viewer  
  EAX02425 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000485659
  ENSP00000485659.1
  ENSP00000516835.1
GenBank Protein P98088 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001291288   ⟸   NM_001304359
- Peptide Label: precursor
- UniProtKB: P98088 (UniProtKB/Swiss-Prot),   Q7M4S5 (UniProtKB/Swiss-Prot),   Q8WWQ4 (UniProtKB/Swiss-Prot),   Q8WWQ3 (UniProtKB/Swiss-Prot),   Q8N4M9 (UniProtKB/Swiss-Prot),   Q658Q1 (UniProtKB/Swiss-Prot),   Q14425 (UniProtKB/Swiss-Prot),   Q13792 (UniProtKB/Swiss-Prot),   O76065 (UniProtKB/Swiss-Prot),   O60460 (UniProtKB/Swiss-Prot),   A0A096LPK4 (UniProtKB/Swiss-Prot),   Q8WWQ5 (UniProtKB/Swiss-Prot),   T1S9D5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000485659   ⟸   ENST00000621226
Protein Domains
CTCK   TIL   VWFC   VWFD   WxxW

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P98088-F1-model_v2 AlphaFold P98088 1-1400 view protein structure
AF-P98088-F2-model_v2 AlphaFold P98088 201-1600 view protein structure
AF-P98088-F3-model_v2 AlphaFold P98088 401-1800 view protein structure
AF-P98088-F4-model_v2 AlphaFold P98088 601-2000 view protein structure
AF-P98088-F5-model_v2 AlphaFold P98088 801-2200 view protein structure
AF-P98088-F6-model_v2 AlphaFold P98088 1001-2400 view protein structure
AF-P98088-F7-model_v2 AlphaFold P98088 1201-2600 view protein structure
AF-P98088-F8-model_v2 AlphaFold P98088 1401-2800 view protein structure
AF-P98088-F9-model_v2 AlphaFold P98088 1601-3000 view protein structure
AF-P98088-F10-model_v2 AlphaFold P98088 1801-3200 view protein structure
AF-P98088-F11-model_v2 AlphaFold P98088 2001-3400 view protein structure
AF-P98088-F12-model_v2 AlphaFold P98088 2201-3600 view protein structure
AF-P98088-F13-model_v2 AlphaFold P98088 2401-3800 view protein structure
AF-P98088-F14-model_v2 AlphaFold P98088 2601-4000 view protein structure
AF-P98088-F15-model_v2 AlphaFold P98088 2801-4200 view protein structure
AF-P98088-F16-model_v2 AlphaFold P98088 3001-4400 view protein structure
AF-P98088-F17-model_v2 AlphaFold P98088 3201-4600 view protein structure
AF-P98088-F18-model_v2 AlphaFold P98088 3401-4800 view protein structure
AF-P98088-F19-model_v2 AlphaFold P98088 3601-5000 view protein structure
AF-P98088-F20-model_v2 AlphaFold P98088 3801-5200 view protein structure
AF-P98088-F21-model_v2 AlphaFold P98088 4001-5400 view protein structure
AF-P98088-F22-model_v2 AlphaFold P98088 4201-5600 view protein structure
AF-P98088-F23-model_v2 AlphaFold P98088 4401-5654 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7515 AgrOrtholog
COSMIC MUC5AC COSMIC
Ensembl Genes ENSG00000215182 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000291363 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000621226 ENTREZGENE
  ENST00000621226.2 UniProtKB/Swiss-Prot
  ENST00000707307.1 UniProtKB/Swiss-Prot
Gene3D-CATH Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000215182 GTEx
  ENSG00000291363 GTEx
HGNC ID HGNC:7515 ENTREZGENE
Human Proteome Map MUC5AC Human Proteome Map
InterPro CILP1/CILP2 UniProtKB/TrEMBL
  Cys_knot_C UniProtKB/Swiss-Prot
  Mucin_vWF_Thrombospondin_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser_inhib-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIL_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Unchr_dom_Cys-rich UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWF_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWF_type-D UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WxxW_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4586 UniProtKB/Swiss-Prot
NCBI Gene 4586 ENTREZGENE
OMIM 158373 OMIM
PANTHER CARTILAGE INTERMEDIATE LAYER PROTEIN 1 UniProtKB/TrEMBL
  CARTILAGE INTERMEDIATE LAYER PROTEIN CLIP UniProtKB/TrEMBL
  EXTRACELLULAR MATRIX GLYCOPROTEIN RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MUCIN-5AC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Mucin2_WxxW UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF08742 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31320 PharmGKB
PROSITE CTCK_1 UniProtKB/Swiss-Prot
  CTCK_2 UniProtKB/Swiss-Prot
  PROKAR_LIPOPROTEIN UniProtKB/TrEMBL
  VWFC_1 UniProtKB/Swiss-Prot
  VWFC_2 UniProtKB/Swiss-Prot
  VWFD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00041 UniProtKB/Swiss-Prot
  SM00832 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWC_out UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP FnI-like domain UniProtKB/Swiss-Prot
  SSF57567 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A096LPK4 ENTREZGENE
  H9XFC1_HUMAN UniProtKB/TrEMBL
  MUC5A_HUMAN UniProtKB/Swiss-Prot
  O60460 ENTREZGENE
  O75372_HUMAN UniProtKB/TrEMBL
  O76065 ENTREZGENE
  P98088 ENTREZGENE
  Q13792 ENTREZGENE
  Q14425 ENTREZGENE
  Q14851_HUMAN UniProtKB/TrEMBL
  Q14886_HUMAN UniProtKB/TrEMBL
  Q14887_HUMAN UniProtKB/TrEMBL
  Q14888_HUMAN UniProtKB/TrEMBL
  Q14889_HUMAN UniProtKB/TrEMBL
  Q14890_HUMAN UniProtKB/TrEMBL
  Q14891_HUMAN UniProtKB/TrEMBL
  Q14892_HUMAN UniProtKB/TrEMBL
  Q14893_HUMAN UniProtKB/TrEMBL
  Q658Q1 ENTREZGENE
  Q7M4S5 ENTREZGENE
  Q8N4M9 ENTREZGENE
  Q8WWQ3 ENTREZGENE
  Q8WWQ4 ENTREZGENE
  Q8WWQ5 ENTREZGENE
  Q96DU6_HUMAN UniProtKB/TrEMBL
  T1R7A8_HUMAN UniProtKB/TrEMBL
  T1R7M6_HUMAN UniProtKB/TrEMBL
  T1R7N1_HUMAN UniProtKB/TrEMBL
  T1R7N3_HUMAN UniProtKB/TrEMBL
  T1R7Q9_HUMAN UniProtKB/TrEMBL
  T1S9D5 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A0A096LPK4 UniProtKB/Swiss-Prot
  O60460 UniProtKB/Swiss-Prot
  O76065 UniProtKB/Swiss-Prot
  Q13792 UniProtKB/Swiss-Prot
  Q14425 UniProtKB/Swiss-Prot
  Q658Q1 UniProtKB/Swiss-Prot
  Q7M4S5 UniProtKB/Swiss-Prot
  Q8N4M9 UniProtKB/Swiss-Prot
  Q8WWQ3 UniProtKB/Swiss-Prot
  Q8WWQ4 UniProtKB/Swiss-Prot
  Q8WWQ5 UniProtKB/Swiss-Prot