Gene Gene information from NCBI Gene database.
Entrez ID 4588
Gene name Mucin 6, oligomeric mucus/gel-forming (gene/pseudogene)
Gene symbol MUC6
Synonyms (NCBI Gene)
MUC-6
Chromosome 11
Chromosome location 11p15.5
Summary This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. [pr
miRNA miRNA information provided by mirtarbase database.
129
miRTarBase ID miRNA Experiments Reference
MIRT018331 hsa-miR-335-5p Microarray 18185580
MIRT1166376 hsa-miR-125a-5p CLIP-seq
MIRT1166377 hsa-miR-125b CLIP-seq
MIRT1166378 hsa-miR-1285 CLIP-seq
MIRT1166379 hsa-miR-1913 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
NFKB1 Unknown 15979574
RELA Unknown 15979574
SP1 Activation 15979574
SP3 Activation 15979574
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0005201 Function Extracellular matrix structural constituent IBA
GO:0005201 Function Extracellular matrix structural constituent NAS 7680650
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IBA
GO:0005796 Component Golgi lumen IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
158374 7517 ENSG00000184956
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6W4X9
Protein name Mucin-6 (MUC-6) (Gastric mucin-6)
Protein function May provide a mechanism for modulation of the composition of the protective mucus layer related to acid secretion or the presence of bacteria and noxious agents in the lumen. Plays an important role in the cytoprotection of epithelial surfaces a
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00094 VWD 45 193 von Willebrand factor type D domain Family
PF08742 C8 231 297 C8 domain Domain
PF01826 TIL 302 357 Trypsin Inhibitor like cysteine rich domain Domain
PF00094 VWD 397 550 von Willebrand factor type D domain Family
PF08742 C8 591 660 C8 domain Domain
PF01826 TIL 764 827 Trypsin Inhibitor like cysteine rich domain Domain
PF00094 VWD 868 1019 von Willebrand factor type D domain Family
PF08742 C8 1060 1127 C8 domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the regenerative zone of gastric antrum, gastric body mucosa and gastric incisura mucosa. Expressed in the deeper mucous glands of gastric antrum. Overexpressed in Helicobacter pylori infected gastric epithelium. Highly ex
Sequence
MVQRWLLLSCCGALLSAGLANTSYTSPGLQRLKDSPQTAPDKGQCSTWGAGHFSTFDHHV
YDFSGTCNYIFAATCKDAFPTFSVQLRRGPDGSISRIIVELGASVVTVSEAIISVKDIGV
ISLPYTSNGLQITPFGQSVRLVAKQLELELEVVWGPDSHLMVLVERKYMGQMCGLCGNFD
GKVTNEFVSEEGK
FLEPHKFAALQKLDDPGEICTFQDIPSTHVRQAQHARICTQLLTLVA
PECSVSKEPFVLSCQADVAAAPQPGPQNSSCATLSEYSRQCSMVGQPVRRWRSPGLC
SVG
QCPANQVYQECGSACVKTCSNPQHSCSSSCTFGCFCPEGTVLNDLSNNHTCVPVTQCPCV
LHGAMYAPGEVTIAACQTCRCTLGRWVCTERPCPGHCSLEGGSFVTTFDARPYRFHGTCT
YILLQSPQLPEDGALMAVYDKSGVSHSETSLVAVVYLSRQDKIVISQDEVVTNNGEAKWL
PYKTRNITVFRQTSTHLQMATSFGLELVVQLRPIFQAYVTVGPQFRGQTRGLCGNFNGDT
TDDFTTSMGI
AEGTASLFVDSWRAGNCPAALERETDPCSMSQLNKVCAETHCSMLLRTGT
VFERCHATVNPAPFYKRCVYQACNYEETFPHICAALGDYVHACSLRGVLLWGWRSSVDNC

TIPCTGNTTFSYNSQACERTCLSLSDRATECHHSAVPVDGCNCPDGTYLNQKGECVRKAQ
CPCILEGYKFILAEQSTVINGITCHCINGRLSCPQRPQMFLASCQAPKTFKSCSQSSENK
FGAACAPTCQMLATGVACVPTKCEPGCVCAEGLYENADGQCVPPEEC
PCEFSGVSYPGGA
ELHTDCRTCSCSRGRWACQQGTHCPSTCTLYGEGHVITFDGQRFVFDGNCEYILATDVCG
VNDSQPTFKILTENVICGNSGVTCSRAIKIFLGGLSVVLADRNYTVTGEEPHVQLGVTPG
ALSLVVDISIPGRYNLTLIWNRHMTILIRIARASQDPLCGLCGNFNGNMKDDFETRSRY
V
ASSELELVNSWKESPLCGDVSFVTDPCSLNAFRRSWAERKCSVINSQTFATCHSKVYHLP
YYEACVRDACGCDSGGDCECLCDAVAAYAQACLDKGVCVDWRTPAFC
PIYCGFYNTHTQD
GHGEYQYTQEANCTWHYQPCLCPSQPQSVPGSNIEGCYNCSQDEYFDHEEGVCVPCMPPT
TPQPPTTPQLPTTGSRPTQVWPMTGTSTTIGLLSSTGPSPSSNHTPASPTQTPLLPATLT
SSKPTASSGEPPRPTTAVTPQATSGLPPTATLRSTATKPTVTQATTRATASTASPATTST
AQSTTRTTMTLPTPATSGTSPTLPKSTNQELPGTTATQTTGPRPTPASTTGPTTPQPGQP
TRPTATETTQTRTTTEYTTPQTPHTTHSPPTAGSPVPSTGPVTATSFHATTTYPTPSHPE
TTLPTHVPPFSTSLVTPSTHTVITPTHAQMATSASNHSAPTGTIPPPTTLKATGSTHTAP
PITPTTSGTSQAHSSFSTNKTPTSLHSHTSSTHHPEVTPTSTTTITPNPTSTRTRTPVAH
TNSATSSRPPPPFTTHSPPTGSSPFSSTGPMTATSFKTTTTYPTPSHPQTTLPTHVPPFS
TSLVTPSTHTVITPTHAQMATSASIHSMPTGTIPPPTTLKATGSTHTAPTMTLTTSGTSQ
ALSSLNTAKTSTSLHSHTSSTHHAEATSTSTTNITPNPTSTGTPPMTVTTSGTSQSRSSF
STAKTSTSLHSHTSSTHHPEVTSTSTTSITPNHTSTGTRTPVAHTTSATSSRLPTPFTTH
SPPTGTTPISSTGPVTATSFQTTTTYPTPSHPHTTLPTHVPSFSTSLVTPSTHTVIIPTH
TQMATSASIHSMPTGTIPPPTTIKATGSTHTAPPMTPTTSGTSQSPSSFSTAKTSTSLPY
HTSSTHHPEVTPTSTTNITPKHTSTGTRTPVAHTTSASSSRLPTPFTTHSPPTGSSPFSS
TGPMTATSFQTTTTYPTPSHPQTTLPTHVPPFSTSLVTPSTHTVIITTHTQMATSASIHS
TPTGTVPPPTTLKATGSTHTAPPMTVTTSGTSQTHSSFSTATASSSFISSSSWLPQNSSS
RPPSSPITTQLPHLSSATTPVSTTNQLSSSFSPSPSAPSTVSSYVPSSHSSPQTSSPSVG
TSSSFVSAPVHSTTLSSGSHSSLSTHPTTASVSASPLFPSSPAASTTIRATLPHTISSPF
TLSALLPISTVTVSPTPSSHLASSTIAFPSTPRTTASTHTAPAFSSQSTTSRSTSLTTRV
PTSGFVSLTSGVTGIPTSPVTNLTTRHPGPTLSPTTRFLTSSLTAHGSTPASAPVSSLGT
PTPTSPGVCSVREQQEEITFKGCMANVTVTRCEGACISAASFNIITQQVDARCSCCRPLH
SYEQQLELPCPDPSTPGRRLVLTLQVFSHCVCSSVACGD
Sequence length 2439
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC)
Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS)
Defective GALNT12 causes colorectal cancer 1 (CRCS1)
Dectin-2 family
O-linked glycosylation of mucins
Termination of O-glycan biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 10209489, 15086835, 15910596, 23382633, 24138592, 27766003, 28321517, 29187465, 29278427, 29658052, 29664741, 29956011, 30324235, 31076280, 31567280
View all (1 more)
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 17401217
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 10100757
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of duodenum Adenocarcinoma Of Duodenum BEFREE 26517627
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 15151204
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of rectum Adenocarcinoma Of Rectum BEFREE 23054008
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Tubular Adenocarcinoma BEFREE 19102008
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 17085661, 23404616
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 12820724, 9935202
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 17676483
★☆☆☆☆
Found in Text Mining only