Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 140453
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol MUC17   Gene   UCSC   Ensembl
Aliases MUC-17, MUC-3, MUC3
Gene name mucin 17, cell surface associated
Alternate names mucin-17, membrane mucin MUC17, secreted mucin MUC17, small intestinal mucin MUC3, small intestinal mucin-3,
Gene location 7q22.1 (101020082: 101058858)     Exons: 13     NC_000007.14
Gene summary(Entrez) The protein encoded by this gene is a membrane-bound mucin that provides protection to gut epithelial cells. The encoded protein contains about 60 tandem repeats, with each repeat being around 60 aa. N-glycosylation enables the encoded protein to localize on the cell surface, while the C-terminus interacts with the scaffold protein PDZ domain containing 1 (PDZK1). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2015]
OMIM 608424

SNPs

 rs4729645

Strand: +   Allele origin: unknown  Allele change: A/C/T   Mutation type: snp

  
XR_242223.1   n.1069C>A
XR_242223.1   n.1069C>T
NP_001035194.1   p.Thr339Lys
NP_001035194.1   p.Thr339Met
NR_133665.1   n.1069C>A
NR_133665.1   n.1069C>T
NG_050729.1   g.17357C>A
NG_050729.1   g.17357C>T
NM_001040105.1   c.1016C>A
NM_001040105.1   c.1016C>T
NC_000007.14   g.1
rs4729655

Strand: +   Allele origin: unknown  Allele change: C/T   Mutation type: snp

NC_000007.13   g.100701451T>C
NC_000007.14   g.101058170T>C
NM_001040105.1   c.*126T>C
NG_050729.1   g.43095T>C
NR_133665.1   n.13509T>C
XR_242223.1   n.13509T>C
rs4729656

Strand: +   Allele origin: unknown  Allele change: A/G/T   Mutation type: snp

NC_000007.14   g.101058329T>A
NC_000007.14   g.101058329T>G
NC_000007.13   g.100701610T>A
NG_050729.1   g.43254T>A
NG_050729.1   g.43254T>G
NG_046390.1   g.131T>A
NG_046390.1   g.131T>G
NM_001040105.1   c.*285T>A
NM_001040105.1   c.*285T>G
NR_133665.1   n.13668T>A
NR_133665.  
rs10953316

Strand: +   Allele origin: unknown  Allele change: A/C/G   Mutation type: snp

  
XR_242223.1   n.7118A>C
XR_242223.1   n.7118A>G
NR_133665.1   n.7118A>C
NR_133665.1   n.7118A>G
NP_001035194.1   p.Thr2355=
NG_050729.1   g.23406A>C
NG_050729.1   g.23406A>G
NM_001040105.1   c.7065A>C
NM_001040105.1   c.7065A>G
NC_000007.13   g.100681762A>C
NC_000007.13   g.1
rs74974199

Strand: +   Allele origin: unknown  Allele change: C/G   Mutation type: snp

  
NC_000007.14   g.101043210G>C
NC_000007.13   g.100686491G>C
NM_001040105.1   c.11794G>C
NG_050729.1   g.28135G>C
NR_133665.1   n.11847G>C
NP_001035194.1   p.Gly3932Arg
XR_242223.1   n.11847G>C

Protein Summary
Protein general information Q685J3  

Name: Mucin 17 (MUC 17) (Small intestinal mucin 3) (MUC 3)

Length: 4493  Mass: 451,741

Tissue specificity: Expressed almost exclusively in the intestine. Expression is especially high in both the duodenum and transverse colon. Expressed in mature absorptive cells of the small intestinal villi. No expression is detected in goblet cells. High

Sequence MPRPGTMALCLLTLVLSLLPPQAAAEQDLSVNRAVWDGGGCISQGDVLNRQCQQLSQHVRTGSAANTATGTTSTN
VVEPRMYLSCSTNPEMTSIESSVTSDTPGVSSTRMTPTESRTTSESTSDSTTLFPSSTEDTSSPTTPEGTDVPMS
TPSEESISSTMAFVSTAPLPSFEAYTSLTYKVDMSTPLTTSTQASSSPTTPESTTIPKSTNSEGSTPLTSMPAST
MKVASSEAITLLTTPVEISTPVTISAQASSSPTTAEGPSLSNSAPSGGSTPLTRMPLSVMLVVSSEASTLSTTPA
ATNIPVITSTEASSSPTTAEGTSIPTSTYTEGSTPLTSTPASTMPVATSEMSTLSITPVDTSTLVTTSTEPSSLP
TTAEATSMLTSTLSEGSTPLTNMPVSTILVASSEASTTSTIPVDSKTFVTTASEASSSPTTAEDTSIATSTPSEG
STPLTSMPVSTTPVASSEASNLSTTPVDSKTQVTTSTEASSSPPTAEVNSMPTSTPSEGSTPLTSMSVSTMPVAS
SEASTLSTTPVDTSTPVTTSSEASSSSTTPEGTSIPTSTPSEGSTPLTNMPVSTRLVVSSEASTTSTTPADSNTF
VTTSSEASSSSTTAEGTSMPTSTYSERGTTITSMSVSTTLVASSEASTLSTTPVDSNTPVTTSTEATSSSTTAEG
TSMPTSTYTEGSTPLTSMPVNTTLVASSEASTLSTTPVDTSTPVTTSTEASSSPTTADGASMPTSTPSEGSTPLT
SMPVSKTLLTSSEASTLSTTPLDTSTHITTSTEASCSPTTTEGTSMPISTPSEGSPLLTSIPVSITPVTSPEAST
LSTTPVDSNSPVTTSTEVSSSPTPAEGTSMPTSTYSEGRTPLTSMPVSTTLVATSAISTLSTTPVDTSTPVTNST
EARSSPTTSEGTSMPTSTPGEGSTPLTSMPDSTTPVVSSEARTLSATPVDTSTPVTTSTEATSSPTTAEGTSIPT
STPSEGTTPLTSTPVSHTLVANSEASTLSTTPVDSNTPLTTSTEASSPPPTAEGTSMPTSTPSEGSTPLTRMPVS
TTMVASSETSTLSTTPADTSTPVTTYSQASSSSTTADGTSMPTSTYSEGSTPLTSVPVSTRLVVSSEASTLSTTP
VDTSIPVTTSTEASSSPTTAEGTSIPTSPPSEGTTPLASMPVSTTLVVSSEANTLSTTPVDSKTQVATSTEASSP
PPTAEVTSMPTSTPGERSTPLTSMPVRHTPVASSEASTLSTSPVDTSTPVTTSAETSSSPTTAEGTSLPTSTTSE
GSTLLTSIPVSTTLVTSPEASTLLTTPVDTKGPVVTSNEVSSSPTPAEGTSMPTSTYSEGRTPLTSIPVNTTLVA
SSAISILSTTPVDNSTPVTTSTEACSSPTTSEGTSMPNSNPSEGTTPLTSIPVSTTPVVSSEASTLSATPVDTST
PGTTSAEATSSPTTAEGISIPTSTPSEGKTPLKSIPVSNTPVANSEASTLSTTPVDSNSPVVTSTAVSSSPTPAE
GTSIAISTPSEGSTALTSIPVSTTTVASSEINSLSTTPAVTSTPVTTYSQASSSPTTADGTSMQTSTYSEGSTPL
TSLPVSTMLVVSSEANTLSTTPIDSKTQVTASTEASSSTTAEGSSMTISTPSEGSPLLTSIPVSTTPVASPEAST
LSTTPVDSNSPVITSTEVSSSPTPAEGTSMPTSTYTEGRTPLTSITVRTTPVASSAISTLSTTPVDNSTPVTTST
EARSSPTTSEGTSMPNSTPSEGTTPLTSIPVSTTPVLSSEASTLSATPIDTSTPVTTSTEATSSPTTAEGTSIPT
STLSEGMTPLTSTPVSHTLVANSEASTLSTTPVDSNSPVVTSTAVSSSPTPAEGTSIATSTPSEGSTALTSIPVS
TTTVASSETNTLSTTPAVTSTPVTTYAQVSSSPTTADGSSMPTSTPREGRPPLTSIPVSTTTVASSEINTLSTTL
ADTRTPVTTYSQASSSPTTADGTSMPTPAYSEGSTPLTSMPLSTTLVVSSEASTLSTTPVDTSTPATTSTEGSSS
PTTAGGTSIQTSTPSERTTPLAGMPVSTTLVVSSEGNTLSTTPVDSKTQVTNSTEASSSATAEGSSMTISAPSEG
SPLLTSIPLSTTPVASPEASTLSTTPVDSNSPVITSTEVSSSPIPTEGTSMQTSTYSDRRTPLTSMPVSTTVVAS
SAISTLSTTPVDTSTPVTNSTEARSSPTTSEGTSMPTSTPSEGSTPFTSMPVSTMPVVTSEASTLSATPVDTSTP
VTTSTEATSSPTTAEGTSIPTSTLSEGTTPLTSIPVSHTLVANSEVSTLSTTPVDSNTPFTTSTEASSPPPTAEG
TSMPTSTSSEGNTPLTRMPVSTTMVASFETSTLSTTPADTSTPVTTYSQAGSSPTTADDTSMPTSTYSEGSTPLT
SVPVSTMPVVSSEASTHSTTPVDTSTPVTTSTEASSSPTTAEGTSIPTSPPSEGTTPLASMPVSTTPVVSSEAGT
LSTTPVDTSTPMTTSTEASSSPTTAEDIVVPISTASEGSTLLTSIPVSTTPVASPEASTLSTTPVDSNSPVVTST
EISSSATSAEGTSMPTSTYSEGSTPLRSMPVSTKPLASSEASTLSTTPVDTSIPVTTSTETSSSPTTAKDTSMPI
STPSEVSTSLTSILVSTMPVASSEASTLSTTPVDTRTLVTTSTGTSSSPTTAEGSSMPTSTPGERSTPLTNILVS
TTLLANSEASTLSTTPVDTSTPVTTSAEASSSPTTAEGTSMRISTPSDGSTPLTSILVSTLPVASSEASTVSTTA
VDTSIPVTTSTEASSSPTTAEVTSMPTSTPSETSTPLTSMPVNHTPVASSEAGTLSTTPVDTSTPVTTSTKASSS
PTTAEGIVVPISTASEGSTLLTSIPVSTTPVASSEASTLSTTPVDTSIPVTTSTEGSSSPTTAEGTSMPISTPSE
VSTPLTSILVSTVPVAGSEASTLSTTPVDTRTPVTTSAEASSSPTTAEGTSMPISTPGERRTPLTSMSVSTMPVA
SSEASTLSRTPADTSTPVTTSTEASSSPTTAEGTGIPISTPSEGSTPLTSIPVSTTPVAIPEASTLSTTPVDSNS
PVVTSTEVSSSPTPAEGTSMPISTYSEGSTPLTGVPVSTTPVTSSAISTLSTTPVDTSTPVTTSTEAHSSPTTSE
GTSMPTSTPSEGSTPLTYMPVSTMLVVSSEDSTLSATPVDTSTPVTTSTEATSSTTAEGTSIPTSTPSEGMTPLT
SVPVSNTPVASSEASILSTTPVDSNTPLTTSTEASSSPPTAEGTSMPTSTPSEGSTPLTSMPVSTTTVASSETST
LSTTPADTSTPVTTYSQASSSPPIADGTSMPTSTYSEGSTPLTNMSFSTTPVVSSEASTLSTTPVDTSTPVTTST
EASLSPTTAEGTSIPTSSPSEGTTPLASMPVSTTPVVSSEVNTLSTTPVDSNTLVTTSTEASSSPTIAEGTSLPT
STTSEGSTPLSIMPLSTTPVASSEASTLSTTPVDTSTPVTTSSPTNSSPTTAEVTSMPTSTAGEGSTPLTNMPVS
TTPVASSEASTLSTTPVDSNTFVTSSSQASSSPATLQVTTMRMSTPSEGSSSLTTMLLSSTYVTSSEASTPSTPS
VDRSTPVTTSTQSNSTPTPPEVITLPMSTPSEVSTPLTIMPVSTTSVTISEAGTASTLPVDTSTPVITSTQVSSS
PVTPEGTTMPIWTPSEGSTPLTTMPVSTTRVTSSEGSTLSTPSVVTSTPVTTSTEAISSSATLDSTTMSVSMPME
ISTLGTTILVSTTPVTRFPESSTPSIPSVYTSMSMTTASEGSSSPTTLEGTTTMPMSTTSERSTLLTTVLISPIS
VMSPSEASTLSTPPGDTSTPLLTSTKAGSFSIPAEVTTIRISITSERSTPLTTLLVSTTLPTSFPGASIASTPPL
DTSTTFTPSTDTASTPTIPVATTISVSVITEGSTPGTTIFIPSTPVTSSTADVFPATTGAVSTPVITSTELNTPS
TSSSSTTTSFSTTKEFTTPAMTTAAPLTYVTMSTAPSTPRTTSRGCTTSASTLSATSTPHTSTSVTTRPVTPSSE
SSRPSTITSHTIPPTFPPAHSSTPPTTSASSTTVNPEAVTTMTTRTKPSTRTTSFPTVTTTAVPTNTTIKSNPTS
TPTVPRTTTCFGDGCQNTASRCKNGGTWDGLKCQCPNLYYGELCEEVVSSIDIGPPETISAQMELTVTVTSVKFT
EELKNHSSQEFQEFKQTFTEQMNIVYSGIPEYVGVNITKLRLGSVVVEHDVLLRTKYTPEYKTVLDNATEVVKEK
ITKVTTQQIMINDICSDMMCFNTTGTQVQNITVTQYDPEEDCRKMAKEYGDYFVVEYRDQKPYCISPCEPGFSVS
KNCNLGKCQMSLSGPQCLCVTTETHWYSGETCNQGTQKSLVYGLVGAGVVLMLIILVALLMLVFRSKREVKRQKY
RLSQLYKWQEEDSGPAPGTFQNIGFDICQDDDSIHLESIYSNFQPSLRHIDPETKIRIQRPQVMTTSF
Structural information
Protein Domains
 EGF-like. (4131-4170)
SEA. (4184-4291)
Interpro:  IPR013032 IPR000742 IPR000082
Prosite:   PS00022 PS50026 PS50024

Pfam:  		 PF01390
STRING:   ENSP00000302716;
Other Databases GeneCards:  MUC17;  Malacards:  MUC17

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005515 protein binding
 IPI molecular_function
GO:0005576 extracellular region
 IEA cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005902 microvillus
 IEA cellular_component
GO:0009897 external side of plasma m
embrane
 IDA cellular_component
GO:0016021 integral component of mem
brane
 IEA cellular_component
GO:0016266 O-glycan processing
 TAS biological_process
GO:0016266 O-glycan processing
 TAS biological_process
GO:0016324 apical plasma membrane
 IDA cellular_component
GO:0019725 cellular homeostasis
 TAS biological_process
GO:0030165 PDZ domain binding
 IPI molecular_function
GO:0030197 extracellular matrix cons
tituent, lubricant activi
ty
 NAS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 IEA cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005886 plasma membrane
 IEA cellular_component
GO:0005886 plasma membrane
 IEA cellular_component
GO:0005902 microvillus
 IEA cellular_component
GO:0009897 external side of plasma m
embrane
 IDA cellular_component
GO:0016020 membrane
 IEA cellular_component
GO:0016021 integral component of mem
brane
 IEA cellular_component
GO:0016266 O-glycan processing
 TAS biological_process
GO:0016266 O-glycan processing
 TAS biological_process
GO:0016324 apical plasma membrane
 IEA cellular_component
GO:0016324 apical plasma membrane
 IDA cellular_component
GO:0019725 cellular homeostasis
 TAS biological_process
GO:0030165 PDZ domain binding
 IPI molecular_function
GO:0030197 extracellular matrix cons
tituent, lubricant activi
ty
 NAS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0009897 external side of plasma m
embrane
 IDA cellular_component
GO:0016266 O-glycan processing
 TAS biological_process
GO:0016266 O-glycan processing
 TAS biological_process
GO:0016324 apical plasma membrane
 IDA cellular_component
GO:0019725 cellular homeostasis
 TAS biological_process
GO:0030165 PDZ domain binding
 IPI molecular_function
GO:0030197 extracellular matrix cons
tituent, lubricant activi
ty
 NAS molecular_function

Diseases

Associated diseases References
Endometriosis PMID: 26285705
Endometriosis associated infertility INFBASE26285705
Endometriosis INFBASE26285705

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
26285705 Endometrio
sis
 MUC17 (rs4729645, rs10953316, rs74974199, rs4729655, and rs4729656) Taiwane
se
 380 (189 female
Taiwanese pati
ents with patho
logy-proven end
ometriosis, 191
healthy Taiwan
ese women as co
ntrols)
 Female infertility
Show abstract