MUC2 (mucin 2, oligomeric mucus/gel-forming) - Rat Genome Database

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Gene: MUC2 (mucin 2, oligomeric mucus/gel-forming) Homo sapiens
Analyze
Symbol: MUC2
Name: mucin 2, oligomeric mucus/gel-forming
RGD ID: 735987
HGNC Page HGNC:7512
Description: Enables cupric ion binding activity and cuprous ion binding activity. Involved in detoxification of copper ion; maintenance of gastrointestinal epithelium; and mucus secretion. Located in collagen-containing extracellular matrix. Implicated in asthma. Biomarker of several diseases, including Barrett's esophagus; adenocarcinoma (multiple); allergic conjunctivitis; cystic fibrosis; and primary biliary cholangitis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: intestinal mucin-2; MLP; MUC-2; mucin 2, intestinal/tracheal; mucin-2; mucin-like protein; SMUC
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
GRCh38111,074,874 - 1,110,508 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl111,074,875 - 1,110,511 (+)EnsemblGRCh38hg38GRCh38
GRCh37111,074,874 - 1,104,416 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,064,902 - 1,094,419 (+)NCBINCBI36Build 36hg18NCBI36
Build 34111,064,874 - 1,094,416NCBI
Cytogenetic Map11p15.5NCBI
HuRef11897,783 - 932,205 (+)NCBIHuRef
CHM1_1111,073,796 - 1,103,733 (+)NCBICHM1_1
T2T-CHM13v2.0111,144,674 - 1,182,053 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1,8-cineole  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-palmitoylglycerol  (EXP)
4,4'-sulfonyldiphenol  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
aflatoxin M1  (EXP)
all-trans-4-hydroxyretinoic acid  (EXP)
all-trans-retinoic acid  (EXP)
amphotericin B  (EXP)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenite(3-)  (ISO)
arsenous acid  (ISO)
benzo[a]pyrene  (EXP)
benzo[e]pyrene  (EXP)
benzylpenicillin  (ISO)
biochanin A  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (ISO)
cannabidiol  (ISO)
carmustine  (EXP)
chlorothalonil  (ISO)
chlorpyrifos  (ISO)
cholic acid  (ISO)
clodronic acid  (ISO)
copper(II) sulfate  (EXP)
CU-O LINKAGE  (EXP)
cyclosporin A  (EXP)
deoxynivalenol  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (ISO)
diisononyl phthalate  (ISO)
disodium selenite  (ISO)
dodecanoic acid  (ISO)
enilconazole  (ISO)
erythromycin A  (ISO)
ethyl methanesulfonate  (EXP)
ethylparaben  (EXP)
fluoranthene  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
genistein  (ISO)
Lafutidine  (ISO)
lipopolysaccharide  (EXP)
loxoprofen  (ISO)
mercury atom  (ISO)
mercury(0)  (ISO)
methapyrilene  (EXP)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
microcystin-LR  (ISO)
Muraglitazar  (ISO)
N-nitrosodiethylamine  (ISO)
NAD zwitterion  (EXP)
NAD(+)  (EXP)
ochratoxin A  (EXP)
ozone  (EXP)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
procymidone  (ISO)
quercetin  (EXP)
sodium arsenite  (EXP)
sulfasalazine  (ISO)
T-2 toxin  (EXP)
Tesaglitazar  (ISO)
triptonide  (ISO)
troglitazone  (EXP,ISO)
valproic acid  (EXP)
zearalenone  (EXP)

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Pathogenesis of colloid (pure mucinous) carcinoma of exocrine organs: Coupling of gel-forming mucin (MUC2) production with altered cell polarity and abnormal cell-stroma interaction may be the key factor in the morphogenesis and indolent behavior of colloid carcinoma in the breast and pancreas. Adsay NV, etal., Am J Surg Pathol. 2003 May;27(5):571-8.
2. Intestinal anti-inflammatory activity of hydroalcoholic extracts of Phlomis purpurea L. and Phlomis lychnitis L. in the trinitrobenzenesulphonic acid model of rat colitis. Algieri F, etal., J Ethnopharmacol. 2013 Apr 19;146(3):750-9. doi: 10.1016/j.jep.2013.01.041. Epub 2013 Feb 7.
3. New therapeutic strategy for amino acid medicine: prophylactic and healing promoting effect of monosodium glutamate against NSAID-induced enteropathy. Amagase K, etal., J Pharmacol Sci. 2012;118(2):131-7. Epub 2012 Jan 27.
4. Altered Innate Defenses in the Neonatal Gastrointestinal Tract in Response to Colonization by Neuropathogenic Escherichia coli. Birchenough GM, etal., Infect Immun. 2013 Sep;81(9):3264-75. doi: 10.1128/IAI.00268-13. Epub 2013 Jun 24.
5. Homeostasis and function of goblet cells during rotavirus infection in mice. Boshuizen JA, etal., Virology. 2005 Jul 5;337(2):210-21.
6. 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.
7. Phenotypic alterations of mucins and cytokeratins during gallbladder carcinogenesis. Chang HJ, etal., Pathol Int. 2004 Aug;54(8):576-84.
8. Breakdown of mucin as barrier to digestive enzymes in the ischemic rat small intestine. Chang M, etal., PLoS One. 2012;7(6):e40087. doi: 10.1371/journal.pone.0040087. Epub 2012 Jun 29.
9. Therapeutic effects of rectal administration of muscovite on experimental colitis in rats. Chen Y, etal., J Gastroenterol Hepatol. 2009 May;24(5):912-9. Epub 2009 Feb 9.
10. A Decoy Oligonucleotide to NF-kappaB Delivered through Inhalable Particles Prevents LPS-Induced Rat Airway Inflammation. De Stefano D, etal., Am J Respir Cell Mol Biol. 2013 Aug;49(2):288-95. doi: 10.1165/rcmb.2012-0473OC.
11. Tumor necrosis factor-alpha and Muc2 mucin play major roles in disease onset and progression in dextran sodium sulphate-induced colitis. Dharmani P, etal., PLoS One. 2011;6(9):e25058. doi: 10.1371/journal.pone.0025058. Epub 2011 Sep 19.
12. Alterations of the ocular surface epithelial mucins 1, 2, 4 and the tear functions in patients with atopic keratoconjunctivitis. Dogru M, etal., Clin Exp Allergy. 2006 Dec;36(12):1556-65.
13. Intrauterine growth restriction alters postnatal colonic barrier maturation in rats. Fanca-Berthon P, etal., Pediatr Res. 2009 Jul;66(1):47-52. doi: 10.1203/PDR.0b013e3181a2047e.
14. Mucin production and composition is altered in dextran sulfate sodium-induced colitis in rats. Faure M, etal., Dig Dis Sci. 2003 Jul;48(7):1366-73.
15. Gene expression profile and genomic alterations in colonic tumours induced by 1,2-dimethylhydrazine (DMH) in rats. Femia AP, etal., BMC Cancer. 2010 May 11;10:194. doi: 10.1186/1471-2407-10-194.
16. K-ras mutations and mucin profile in preneoplastic lesions and colon tumors induced in rats by 1,2-dimethylhydrazine. Femia AP, etal., Int J Cancer. 2008 Jan 1;122(1):117-23.
17. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
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. Tumor necrosis factor-alpha induces the aberrant expression of mucus core protein-2 in non-neoplastic biliary epithelial cells via the upregulation of CDX2 in chronic cholangitis. Ikeda H, etal., Hepatol Res. 2008 Oct;38(10):1006-17. Epub 2008 May 27.
20. MUC1 and estrogen receptor alpha gene polymorphisms in dry eye patients. Imbert Y, etal., Exp Eye Res. 2009 Mar;88(3):334-8. doi: 10.1016/j.exer.2008.05.019. Epub 2008 Jun 20.
21. Aberrant expression of CDX2 is closely related to the intestinal metaplasia and MUC2 expression in intraductal papillary neoplasm of the liver in hepatolithiasis. Ishikawa A, etal., Lab Invest. 2004 May;84(5):629-38.
22. 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.
23. Bifidobacterium bifidum improves intestinal integrity in a rat model of necrotizing enterocolitis. Khailova L, etal., Am J Physiol Gastrointest Liver Physiol. 2009 Aug 27.
24. 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.
25. Localization and up-regulation of mucin (MUC2) gene expression in human nasal biopsies of patients with cystic fibrosis. Li D, etal., J Pathol. 1997 Mar;181(3):305-10.
26. Fate of goblet cells in experimental colitis. Makkink MK, etal., Dig Dis Sci. 2002 Oct;47(10):2286-97.
27. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
28. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
29. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
30. Milk casein-based diet containing TGF-beta controls the inflammatory reaction in the HLA-B27 transgenic rat model. Schiffrin EJ, et al., JPEN J Parenter Enteral Nutr. 2005 Jul-Aug;29(4 Suppl):S141-8; discussion S149-50, S184-8.
31. 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.
32. Irinotecan-induced mucositis is associated with changes in intestinal mucins. Stringer AM, etal., Cancer Chemother Pharmacol. 2008 Nov 8.
33. CDX2, COX2 and MUC2 expressions in Barrett's esophagus: can they be useful in determination of the dysplasia? Turkmen IC, etal., Turk Patoloji Derg. 2012;28(3):251-8. doi: 10.5146/tjpath.2012.01132.
34. Polymorphism of human mucin genes in chest disease: possible significance of MUC2. Vinall LE, etal., Am J Respir Cell Mol Biol. 2000 Nov;23(5):678-86.
35. [Effects of platelet activating factor receptor antagonist in intestinal mucin-2 during endotoxemia on young rats]. Wang LJ and Sun M, Zhonghua Er Ke Za Zhi. 2008 Sep;46(9):680-3.
36. 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.
37. Expression of MUC2 and MUC4 proteins and cytokines: early markers of intestinal graft rejection. Wasserberg N, etal., Transplantation. 2003 Apr 27;75(8):1249-55.
38. Expulsion of the gastrointestinal cestode, Hymenolepis diminuta by tolerant rats: evidence for mediation by a Th2 type immune enhanced goblet cell hyperplasia, increased mucin production and secretion. Webb RA, etal., Parasite Immunol. 2007 Jan;29(1):11-21.
39. Intestinal microbiota and innate immunity-related gene alteration in cirrhotic rats with liver transplantation. Xie YR, etal., Transplant Proc. 2011 Dec;43(10):3973-9. doi: 10.1016/j.transproceed.2011.08.113.
40. Altered expression of goblet cell- and mucin glycosylation-related genes in the intestinal epithelium during infection with the nematode Nippostrongylus brasiliensis in rat. Yamauchi J, etal., APMIS. 2006 Apr;114(4):270-8.
Additional References at PubMed
PMID:1400449   PMID:1550588   PMID:1885763   PMID:1980995   PMID:1985113   PMID:2254452   PMID:2265829   PMID:2703501   PMID:7864825   PMID:7926500   PMID:8300571   PMID:8975711  
PMID:9065467   PMID:9224654   PMID:9407109   PMID:9668061   PMID:9722984   PMID:9865718   PMID:10336486   PMID:10737800   PMID:11445551   PMID:11813869   PMID:11893907   PMID:12077118  
PMID:12135769   PMID:12218214   PMID:12237307   PMID:12374798   PMID:12391274   PMID:12417297   PMID:12482999   PMID:12490305   PMID:12507512   PMID:12527922   PMID:12559945   PMID:12582180  
PMID:12820724   PMID:12848848   PMID:14525978   PMID:14550542   PMID:14616551   PMID:14678781   PMID:15000151   PMID:15081123   PMID:15240568   PMID:15345696   PMID:15665513   PMID:15733066  
PMID:16142311   PMID:16188033   PMID:16227528   PMID:16285957   PMID:16447040   PMID:16475027   PMID:16552339   PMID:16721789   PMID:16733847   PMID:16754877   PMID:17058067   PMID:17203232  
PMID:17321686   PMID:17333267   PMID:17401217   PMID:17471237   PMID:17509526   PMID:17674761   PMID:17703412   PMID:17982272   PMID:17991319   PMID:18000536   PMID:18004654   PMID:18038313  
PMID:18059019   PMID:18299935   PMID:18300795   PMID:18301248   PMID:18487999   PMID:18566135   PMID:18825309   PMID:18834073   PMID:19119477   PMID:19201396   PMID:19246635   PMID:19258923  
PMID:19321523   PMID:19359471   PMID:19432394   PMID:19718741   PMID:19815850   PMID:20065027   PMID:20198318   PMID:20198339   PMID:20379614   PMID:20485009   PMID:20503287   PMID:20706999  
PMID:20718712   PMID:20731025   PMID:20865330   PMID:20873538   PMID:20878553   PMID:20929551   PMID:21125297   PMID:21290483   PMID:21318237   PMID:21441843   PMID:21596555   PMID:21602660  
PMID:21605079   PMID:21618511   PMID:21647207   PMID:21700631   PMID:21831773   PMID:21873635   PMID:22073249   PMID:22116730   PMID:22261707   PMID:22269464   PMID:22402132   PMID:22417007  
PMID:22451922   PMID:22582780   PMID:22691042   PMID:22752373   PMID:23179399   PMID:23305535   PMID:23347460   PMID:23464457   PMID:23464473   PMID:23546879   PMID:23583980   PMID:23619266  
PMID:23807779   PMID:24280573   PMID:24290360   PMID:24324582   PMID:24478066   PMID:24478067   PMID:24566630   PMID:24714692   PMID:24816392   PMID:24840470   PMID:24901817   PMID:24920497  
PMID:25037231   PMID:25298197   PMID:25406038   PMID:25638393   PMID:25921338   PMID:26882402   PMID:27129250   PMID:27277677   PMID:27298226   PMID:27490946   PMID:27835575   PMID:27913994  
PMID:28106824   PMID:28725043   PMID:28867610   PMID:29383490   PMID:29599128   PMID:29782466   PMID:29869461   PMID:29999571   PMID:30171605   PMID:30271081   PMID:30317423   PMID:30504806  
PMID:30789657   PMID:30841469   PMID:31152661   PMID:31310764   PMID:31570526   PMID:31590960   PMID:31733832   PMID:31861919   PMID:31906951   PMID:32155332   PMID:32283838   PMID:32707285  
PMID:33031746   PMID:33154304   PMID:33515627   PMID:33559155   PMID:34086646   PMID:34109579   PMID:34237462   PMID:34436741   PMID:34494458   PMID:34807735   PMID:34902790   PMID:35757703  
PMID:36206754   PMID:36367122   PMID:37686224   PMID:37788672   PMID:38423356   PMID:38500386   PMID:38733585  


Genomics

Comparative Map Data
MUC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38111,074,874 - 1,110,508 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl111,074,875 - 1,110,511 (+)EnsemblGRCh38hg38GRCh38
GRCh37111,074,874 - 1,104,416 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,064,902 - 1,094,419 (+)NCBINCBI36Build 36hg18NCBI36
Build 34111,064,874 - 1,094,416NCBI
Cytogenetic Map11p15.5NCBI
HuRef11897,783 - 932,205 (+)NCBIHuRef
CHM1_1111,073,796 - 1,103,733 (+)NCBICHM1_1
T2T-CHM13v2.0111,144,674 - 1,182,053 (+)NCBIT2T-CHM13v2.0
Muc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397141,276,583 - 141,308,428 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7141,276,583 - 141,308,430 (+)EnsemblGRCm39 Ensembl
GRCm387141,690,340 - 141,754,691 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7141,690,340 - 141,754,693 (+)EnsemblGRCm38mm10GRCm38
MGSCv377148,930,517 - 148,940,598 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv377148,876,261 - 148,890,250 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367141,553,920 - 141,565,981 (+)NCBIMGSCv36mm8
Celera7141,484,086 - 141,510,531 (+)NCBICelera
Cytogenetic Map7F5NCBI
cM Map787.1NCBI
Muc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81206,225,775 - 206,261,280 (+)NCBIGRCr8
mRatBN7.21196,799,494 - 196,831,740 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1196,799,517 - 196,831,756 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01214,663,929 - 214,693,197 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1214,664,537 - 214,693,043 (+)NCBIRnor6.0rn6Rnor6.0
Rnor_5.01221,581,822 - 221,611,451 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1194,430,946 - 194,458,668 (+)NCBICelera
Celera1194,458,772 - 194,461,359 (+)NCBICelera
Cytogenetic Map1q41NCBI
Muc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547611,108,826 - 11,135,697 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495547611,108,826 - 11,135,697 (-)NCBIChiLan1.0ChiLan1.0
MUC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v293,487,647 - 3,523,891 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1112,698,364 - 2,735,182 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0111,106,716 - 1,144,489 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1111,143,625 - 1,180,798 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl111,143,625 - 1,169,741 (+)Ensemblpanpan1.1panPan2
MUC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11845,416,347 - 45,438,226 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
ROS_Cfam_1.01846,091,348 - 46,116,933 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11845,539,151 - 45,565,262 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01845,119,185 - 45,145,631 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01845,857,452 - 45,883,423 (+)NCBIUU_Cfam_GSD_1.0
Muc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947806,466 - 835,556 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493681660,499 - 91,628 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493681660,499 - 91,628 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MUC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2689,364 - 710,330 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12689,363 - 719,542 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22140 - 7,521 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MUC2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11893,554 - 926,854 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603898,020,755 - 98,058,827 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Muc2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476621,493,125 - 21,522,535 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MUC2
66 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
NC_000011.10:g.1098951A>C single nucleotide variant Malignant melanoma [RCV000069153] Chr11:1098951 [GRCh38]
Chr11:1092859 [GRCh37]
Chr11:1082859 [NCBI36]
Chr11:11p15.5
not provided
NC_000011.10:g.1107703G>A single nucleotide variant Malignant melanoma [RCV000069154] Chr11:1107703 [GRCh38]
Chr11:1101611 [GRCh37]
Chr11:1091611 [NCBI36]
Chr11:11p15.5
not provided
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
NM_002457.5(MUC2):c.4679C>T (p.Thr1560Ile) single nucleotide variant not specified [RCV000203082] Chr11:1094922 [GRCh38]
Chr11:11p15.5
benign
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(chr11:196855-5321874)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
GRCh37/hg19 11p15.5(chr11:461373-2157956)x4 copy number gain not provided [RCV002473945] Chr11:461373..2157956 [GRCh37]
Chr11:11p15.5
pathogenic
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 11p15.5-12(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
GRCh37/hg19 11p15.5(chr11:1073378-1080597)x1 copy number loss not provided [RCV000749894] Chr11:1073378..1080597 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5(chr11:1073712-1083946)x1 copy number loss not provided [RCV000749895] Chr11:1073712..1083946 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5(chr11:1075920-1079551)x0 copy number loss not provided [RCV000749896] Chr11:1075920..1079551 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5(chr11:1077709-1079551)x1 copy number loss not provided [RCV000749897] Chr11:1077709..1079551 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5(chr11:1077709-1080597)x1 copy number loss not provided [RCV000749898] Chr11:1077709..1080597 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5(chr11:1078496-1084278)x1 copy number loss not provided [RCV000749899] Chr11:1078496..1084278 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5(chr11:1078827-1079551)x0 copy number loss not provided [RCV000749900] Chr11:1078827..1079551 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5(chr11:1078827-1080597)x1 copy number loss not provided [RCV000749901] Chr11:1078827..1080597 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5(chr11:1078827-1083946)x1 copy number loss not provided [RCV000749902] Chr11:1078827..1083946 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5(chr11:1078827-1093512)x1 copy number loss not provided [RCV000749903] Chr11:1078827..1093512 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5(chr11:1078827-1093710)x1 copy number loss not provided [RCV000749904] Chr11:1078827..1093710 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5(chr11:1078827-1105976)x0 copy number loss not provided [RCV000749905] Chr11:1078827..1105976 [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
NM_002457.5(MUC2):c.5126_5127insTACACCCACCGGCACACAGACCCCAACATCGACACCCATCAGCAACACCACTACGGTGACGCCAACACC (p.Thr1710_Thr1711insProThrGlyThrGlnThrProThrSerThrProIleSerAsnThrThrThrValThrProThrProThr) insertion Lung cancer [RCV002465240]   pathogenic
NM_002457.5(MUC2):c.5382_5383insCTACCGTGACCCCAACCCCAACACCCACCGGCACACAGAGTACAACCCTGACACCCATCACCACCACC (p.Gly1795Leufs) insertion Small cell lung carcinoma [RCV002465310] Chr11:1095220..1095221 [GRCh38]
Chr11:11p15.5
pathogenic
NM_002457.5(MUC2):c.5382_5383insCTACTGTGACCCCAACCCCAACACCCACCGGCACACAGAGTACAACCCTGACACCCATCACCACCACC (p.Gly1795Leufs) insertion Lung cancer [RCV002465216] Chr11:1095220..1095221 [GRCh38]
Chr11:11p15.5
pathogenic
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13
pathogenic
NC_000011.9:g.(?_612625)_(2193840_?)dup duplication Immunodeficiency 39 [RCV001033372] Chr11:612625..2193840 [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(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(chr11:210300-8664358)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
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
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_002457.5(MUC2):c.6163A>T (p.Thr2055Ser) single nucleotide variant Lung cancer [RCV002465217] Chr11:1096001 [GRCh38]
Chr11:11p15.5
pathogenic
NM_002457.5(MUC2):c.5197_5220del24 (p.Pro1733_Pro1740del) deletion Lung cancer [RCV002465247] Chr11:1095028..1095051 [GRCh38]
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_002457.5(MUC2):c.723G>A (p.Val241=) single nucleotide variant not provided [RCV003422943] Chr11:1078371 [GRCh38]
Chr11:1078515 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.1887C>T (p.Cys629=) single nucleotide variant not provided [RCV003424532] Chr11:1084642 [GRCh38]
Chr11:1082638 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.2088C>T (p.Asp696=) single nucleotide variant not provided [RCV003424533] Chr11:1085192 [GRCh38]
Chr11:1083188 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.12468C>A (p.Pro4156=) single nucleotide variant not provided [RCV003424561] Chr11:1099802 [GRCh38]
Chr11:1093710 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.726G>T (p.Pro242=) single nucleotide variant not provided [RCV003456736] Chr11:1078374 [GRCh38]
Chr11:1078518 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.4032C>T (p.Pro1344=) single nucleotide variant not provided [RCV003456737] Chr11:1094275 [GRCh38]
Chr11:1092213 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.11670C>A (p.Gly3890=) single nucleotide variant not provided [RCV003456738] Chr11:1099004 [GRCh38]
Chr11:1092912 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.11934A>G (p.Pro3978=) single nucleotide variant not provided [RCV003456739] Chr11:1099268 [GRCh38]
Chr11:1093176 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.11709T>C (p.Thr3903=) single nucleotide variant not provided [RCV003424544] Chr11:1099043 [GRCh38]
Chr11:1092951 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.11772C>G (p.Thr3924=) single nucleotide variant not provided [RCV003424547] Chr11:1099106 [GRCh38]
Chr11:1093014 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.11988G>C (p.Thr3996=) single nucleotide variant not provided [RCV003424549] Chr11:1099322 [GRCh38]
Chr11:1093230 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.12663A>G (p.Pro4221=) single nucleotide variant not provided [RCV003424563] Chr11:1099997 [GRCh38]
Chr11:1093905 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.13671C>T (p.Ser4557=) single nucleotide variant not provided [RCV003424569] Chr11:1103408 [GRCh38]
Chr11:1097316 [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_002457.5(MUC2):c.1386C>T (p.Ser462=) single nucleotide variant not provided [RCV003424531] Chr11:1083094 [GRCh38]
Chr11:1081090 [GRCh37]
Chr11:11p15.5
benign
NM_002457.5(MUC2):c.2260C>T (p.Leu754=) single nucleotide variant not provided [RCV003424534] Chr11:1085594 [GRCh38]
Chr11:1083590 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.3102C>T (p.Pro1034=) single nucleotide variant not provided [RCV003424536] Chr11:1088404 [GRCh38]
Chr11:1086393 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.12054T>C (p.Thr4018=) single nucleotide variant not provided [RCV003424550] Chr11:1099388 [GRCh38]
Chr11:1093296 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.12339C>A (p.Thr4113=) single nucleotide variant not provided [RCV003424556] Chr11:1099673 [GRCh38]
Chr11:1093581 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.12414C>A (p.Thr4138=) single nucleotide variant not provided [RCV003424560] Chr11:1099748 [GRCh38]
Chr11:1093656 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.13014C>G (p.Ser4338=) single nucleotide variant not provided [RCV003424566] Chr11:1101347 [GRCh38]
Chr11:1095255 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.14097C>T (p.Leu4699=) single nucleotide variant not provided [RCV004809497] Chr11:1104880 [GRCh38]
Chr11:1098788 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.4239G>A (p.Thr1413=) single nucleotide variant not provided [RCV003424538] Chr11:1094482 [GRCh38]
Chr11:1092420 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.11739C>A (p.Gly3913=) single nucleotide variant not provided [RCV003424545] Chr11:1099073 [GRCh38]
Chr11:1092981 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.11823C>A (p.Thr3941=) single nucleotide variant not provided [RCV003424548] Chr11:1099157 [GRCh38]
Chr11:1093065 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.12063C>A (p.Thr4021=) single nucleotide variant not provided [RCV003424552] Chr11:1099397 [GRCh38]
Chr11:1093305 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.12348A>T (p.Pro4116=) single nucleotide variant not provided [RCV003424557] Chr11:1099682 [GRCh38]
Chr11:1093590 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.4347A>C (p.Pro1449=) single nucleotide variant not provided [RCV003424540] Chr11:1094590 [GRCh38]
Chr11:1092528 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.12261T>C (p.Thr4087=) single nucleotide variant not provided [RCV003424555] Chr11:1099595 [GRCh38]
Chr11:1093503 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.12375C>A (p.Thr4125=) single nucleotide variant not provided [RCV003424558] Chr11:1099709 [GRCh38]
Chr11:1093617 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.12402G>C (p.Thr4134=) single nucleotide variant not provided [RCV003424559] Chr11:1099736 [GRCh38]
Chr11:1093644 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.14665C>T (p.Pro4889Ser) single nucleotide variant not provided [RCV003424571] Chr11:1108182 [GRCh38]
Chr11:1102090 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.13581C>T (p.Tyr4527=) single nucleotide variant not provided [RCV003456740] Chr11:1103318 [GRCh38]
Chr11:1097226 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.846C>T (p.Pro282=) single nucleotide variant not provided [RCV003422945] Chr11:1078494 [GRCh38]
Chr11:1078638 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.746C>T (p.Ala249Val) single nucleotide variant not provided [RCV003422944] Chr11:1078394 [GRCh38]
Chr11:1078538 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.339C>T (p.Asn113=) single nucleotide variant not provided [RCV003422942] Chr11:1075913 [GRCh38]
Chr11:1075913 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.861C>T (p.Thr287=) single nucleotide variant not provided [RCV003424530] Chr11:1078509 [GRCh38]
Chr11:1078653 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.3381G>A (p.Pro1127=) single nucleotide variant not provided [RCV003424537] Chr11:1089970 [GRCh38]
Chr11:1087906 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.12057G>C (p.Thr4019=) single nucleotide variant not provided [RCV003424551] Chr11:1099391 [GRCh38]
Chr11:1093299 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.12762C>T (p.Thr4254=) single nucleotide variant not provided [RCV003424565] Chr11:1100827 [GRCh38]
Chr11:1094735 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.13308C>T (p.Gly4436=) single nucleotide variant not provided [RCV003424567] Chr11:1102436 [GRCh38]
Chr11:1096344 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.4335G>T (p.Thr1445=) single nucleotide variant not provided [RCV003424539] Chr11:1094578 [GRCh38]
Chr11:1092516 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.4353C>T (p.Thr1451=) single nucleotide variant not provided [RCV003424541] Chr11:1094596 [GRCh38]
Chr11:1092534 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.4572C>T (p.Ser1524=) single nucleotide variant not provided [RCV003424542] Chr11:1094815 [GRCh38]
Chr11:1092753 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.4617C>A (p.Pro1539=) single nucleotide variant not provided [RCV003424543] Chr11:1094860 [GRCh38]
Chr11:1092798 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.11754C>A (p.Thr3918=) single nucleotide variant not provided [RCV003424546] Chr11:1099088 [GRCh38]
Chr11:1092996 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.12099C>A (p.Thr4033=) single nucleotide variant not provided [RCV003424553] Chr11:1099433 [GRCh38]
Chr11:1093341 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.12240G>A (p.Thr4080=) single nucleotide variant not provided [RCV003424554] Chr11:1099574 [GRCh38]
Chr11:1093482 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.15180G>A (p.Ser5060=) single nucleotide variant not provided [RCV003424572] Chr11:1110142 [GRCh38]
Chr11:1104050 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.2412C>T (p.Asp804=) single nucleotide variant not provided [RCV003424535] Chr11:1086284 [GRCh38]
Chr11:1084280 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.12657G>C (p.Leu4219=) single nucleotide variant not provided [RCV003424562] Chr11:1099991 [GRCh38]
Chr11:1093899 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.12666G>A (p.Pro4222=) single nucleotide variant not provided [RCV003424564] Chr11:1100000 [GRCh38]
Chr11:1093908 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.13314G>A (p.Pro4438=) single nucleotide variant not provided [RCV003424568] Chr11:1102442 [GRCh38]
Chr11:1096350 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.14148C>T (p.His4716=) single nucleotide variant not provided [RCV003424570] Chr11:1105322 [GRCh38]
Chr11:1099230 [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_002457.5(MUC2):c.4611C>T (p.Thr1537=) single nucleotide variant not provided [RCV004585312] Chr11:1094854 [GRCh38]
Chr11:1092792 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.1301C>G (p.Pro434Arg) single nucleotide variant not provided [RCV003885720] Chr11:1082921 [GRCh38]
Chr11:1080917 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.13032T>C (p.Pro4344=) single nucleotide variant not provided [RCV003884276] Chr11:1101365 [GRCh38]
Chr11:1095273 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.4437T>A (p.Pro1479=) single nucleotide variant not provided [RCV004546048] Chr11:1094680 [GRCh38]
Chr11:1092618 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.4614T>C (p.Thr1538=) single nucleotide variant not provided [RCV004546115] Chr11:1094857 [GRCh38]
Chr11:1092795 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.4209T>G (p.Thr1403=) single nucleotide variant not provided [RCV004546193] Chr11:1094452 [GRCh38]
Chr11:1092390 [GRCh37]
Chr11:11p15.5
likely benign
NM_002457.5(MUC2):c.4212C>T (p.Thr1404=) single nucleotide variant not provided [RCV004546194] Chr11:1094455 [GRCh38]
Chr11:1092393 [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:1326
Count of miRNA genes:659
Interacting mature miRNAs:742
Transcripts:ENST00000333592, ENST00000359061, ENST00000361558, ENST00000441003
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406961648GWAS610624_Hgut microbiome measurement QTL GWAS610624 (human)0.0000004gut microbiome measurement1110859501085951Human
597444813GWAS1540887_Hlipid measurement QTL GWAS1540887 (human)0.000009lipid measurementblood lipid measurement (CMO:0000050)1111093881109389Human
406962483GWAS611459_Hgut microbiome measurement QTL GWAS611459 (human)0.000003gut microbiome measurement1110859501085951Human
1558691SCL8_HSerum cholesterol level QTL 8 (human)1.2Lipid levelHDL cholesterol1115227071Human
597317311GWAS1413385_Hcognitive function measurement QTL GWAS1413385 (human)9e-08cognitive function measurement1110825801082581Human
597371741GWAS1467815_Hinterstitial lung disease QTL GWAS1467815 (human)7e-34interstitial lung disease1111000371100038Human
597444566GWAS1540640_Hlipid measurement QTL GWAS1540640 (human)0.000004lipid measurementblood lipid measurement (CMO:0000050)1111093881109389Human
597270901GWAS1366975_Hlow density lipoprotein cholesterol measurement QTL GWAS1366975 (human)1e-11low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1110832911083292Human
597271958GWAS1368032_Hlow density lipoprotein cholesterol measurement QTL GWAS1368032 (human)5e-12low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1110832911083292Human

Markers in Region
GDB:197852  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,096,457 - 1,097,245UniSTSGRCh37
Build 36111,086,457 - 1,087,245RGDNCBI36
Celera111,170,268 - 1,171,056RGD
Cytogenetic Map11p15.5UniSTS
HuRef11924,950 - 925,738UniSTS
D11S4619  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,104,316 - 1,104,406UniSTSGRCh37
Build 36111,094,316 - 1,094,406RGDNCBI36
Celera111,178,093 - 1,178,183RGD
Cytogenetic Map11p15.5UniSTS
HuRef11932,104 - 932,194UniSTS
MUC2B  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera111,166,095 - 1,166,249RGD
Cytogenetic Map11p15.5UniSTS
HuRef11914,968 - 915,122UniSTS
GeneMap99-GB4 RH Map1122.82UniSTS
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
1077 2279 2556 1976 4086 1346 1748 397 1175 238 1832 5648 5234 7 3161 560 1540 1244 167

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA527400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC139749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC239832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC256300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF257167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ007575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW054915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG982960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ340542 (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
  CV354692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DV080627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L21998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M22404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M22405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M57417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M74027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M86523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M94131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M94132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH593786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U67167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U68061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000361558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,074,875 - 1,110,511 (+)Ensembl
Ensembl Acc Id: ENST00000613187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,094,474 - 1,099,340 (+)Ensembl
Ensembl Acc Id: ENST00000616479   ⟹   ENSP00000494061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,102,455 - 1,103,456 (+)Ensembl
Ensembl Acc Id: ENST00000674892   ⟹   ENSP00000501871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,099,770 - 1,110,508 (+)Ensembl
Ensembl Acc Id: ENST00000675028   ⟹   ENSP00000502432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,074,875 - 1,094,425 (+)Ensembl
RefSeq Acc Id: NM_002457   ⟹   NP_002448
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,074,874 - 1,110,508 (+)NCBI
GRCh37111,074,875 - 1,104,417 (+)ENTREZGENE
Build 36111,064,902 - 1,094,419 (+)NCBI Archive
HuRef11897,783 - 932,204 (+)NCBI
CHM1_1111,073,796 - 1,103,732 (+)NCBI
T2T-CHM13v2.0111,144,674 - 1,182,053 (+)NCBI
Sequence:
RefSeq Acc Id: NP_002448   ⟸   NM_002457
- Peptide Label: precursor
- UniProtKB: Q14878 (UniProtKB/Swiss-Prot),   Q02817 (UniProtKB/Swiss-Prot),   A0A3S8TMF2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000494061   ⟸   ENST00000616479
Ensembl Acc Id: ENSP00000501871   ⟸   ENST00000674892
Ensembl Acc Id: ENSP00000502432   ⟸   ENST00000675028
Protein Domains
CTCK   TIL   VWFC   VWFD   WxxW

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q02817-F1-model_v2 AlphaFold Q02817 1-1400 view protein structure
AF-Q02817-F2-model_v2 AlphaFold Q02817 201-1600 view protein structure
AF-Q02817-F3-model_v2 AlphaFold Q02817 401-1800 view protein structure
AF-Q02817-F4-model_v2 AlphaFold Q02817 601-2000 view protein structure
AF-Q02817-F5-model_v2 AlphaFold Q02817 801-2200 view protein structure
AF-Q02817-F6-model_v2 AlphaFold Q02817 1001-2400 view protein structure
AF-Q02817-F7-model_v2 AlphaFold Q02817 1201-2600 view protein structure
AF-Q02817-F8-model_v2 AlphaFold Q02817 1401-2800 view protein structure
AF-Q02817-F9-model_v2 AlphaFold Q02817 1601-3000 view protein structure
AF-Q02817-F10-model_v2 AlphaFold Q02817 1801-3200 view protein structure
AF-Q02817-F11-model_v2 AlphaFold Q02817 2001-3400 view protein structure
AF-Q02817-F12-model_v2 AlphaFold Q02817 2201-3600 view protein structure
AF-Q02817-F13-model_v2 AlphaFold Q02817 2401-3800 view protein structure
AF-Q02817-F14-model_v2 AlphaFold Q02817 2601-4000 view protein structure
AF-Q02817-F15-model_v2 AlphaFold Q02817 2801-4200 view protein structure
AF-Q02817-F16-model_v2 AlphaFold Q02817 3001-4400 view protein structure
AF-Q02817-F17-model_v2 AlphaFold Q02817 3201-4600 view protein structure
AF-Q02817-F18-model_v2 AlphaFold Q02817 3401-4800 view protein structure
AF-Q02817-F19-model_v2 AlphaFold Q02817 3601-5000 view protein structure
AF-Q02817-F20-model_v2 AlphaFold Q02817 3801-5179 view protein structure

Promoters
RGD ID:6789138
Promoter ID:HG_KWN:11894
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000359061,   NM_002457,   OTTHUMT00000345894,   UC001LSX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36111,063,891 - 1,064,391 (+)MPROMDB
RGD ID:7219257
Promoter ID:EPDNEW_H15374
Type:initiation region
Name:MUC2_1
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
GRCh38111,102,436 - 1,102,496EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7512 AgrOrtholog
COSMIC MUC2 COSMIC
Ensembl Genes ENSG00000198788 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
  ENSG00000278466 UniProtKB/TrEMBL
  ENSG00000293532 UniProtKB/TrEMBL
Ensembl Transcript ENST00000361558 ENTREZGENE
  ENST00000620037.1 UniProtKB/TrEMBL
  ENST00000622511.1 UniProtKB/TrEMBL
  ENST00000630886.3 UniProtKB/TrEMBL
  ENST00000674892.1 UniProtKB/TrEMBL
  ENST00000675028.1 UniProtKB/TrEMBL
  ENST00000713550.1 UniProtKB/TrEMBL
Gene3D-CATH 2.10.90.10 UniProtKB/TrEMBL
  Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000198788 GTEx
  ENSG00000278466 GTEx
  ENSG00000293532 GTEx
HGNC ID HGNC:7512 ENTREZGENE
Human Proteome Map MUC2 Human Proteome Map
InterPro Cys_knot_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cystine-knot_cytokine UniProtKB/TrEMBL
  Glyco_hormone_CN UniProtKB/TrEMBL
  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:4583 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4583 ENTREZGENE
OMIM 158370 OMIM
PANTHER EXTRACELLULAR MATRIX GLYCOPROTEIN RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MUCIN-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cys_knot UniProtKB/TrEMBL
  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 PA31316 PharmGKB
PRINTS PRICHEXTENSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CTCK_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CTCK_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFC_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFC_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00041 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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, UniProtKB/TrEMBL
  SSF57567 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2JM87_HUMAN UniProtKB/TrEMBL
  A0A0G2JR65_HUMAN UniProtKB/TrEMBL
  A0A3S8TMF2 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PFN2_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGX3_HUMAN UniProtKB/TrEMBL
  MUC2_HUMAN UniProtKB/Swiss-Prot
  O00243_HUMAN UniProtKB/TrEMBL
  Q02817 ENTREZGENE
  Q14878 ENTREZGENE
  Q9HBC5_HUMAN UniProtKB/TrEMBL
  Q9HBC6_HUMAN UniProtKB/TrEMBL
  Q9HBC7_HUMAN UniProtKB/TrEMBL
  Q9UMI9_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q14878 UniProtKB/Swiss-Prot