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Q02817

- MUC2_HUMAN

UniProt

Q02817 - MUC2_HUMAN

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Protein
Mucin-2
Gene
MUC2, SMUC
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Coats the epithelia of the intestines, airways, and other mucus membrane-containing organs. Thought to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces. Major constituent of both the inner and outer mucus layers of the colon and may play a role in excluding bacteria from the inner mucus layer.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei4486 – 44872Cleavage; by autolysis; in vitro

GO - Molecular functioni

  1. protein binding Source: UniProtKB

GO - Biological processi

  1. O-glycan processing Source: Reactome
  2. cellular protein metabolic process Source: Reactome
  3. maintenance of gastrointestinal epithelium Source: UniProt
  4. post-translational protein modification Source: Reactome
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_115606. O-linked glycosylation of mucins.
REACT_115835. Termination of O-glycan biosynthesis.

Names & Taxonomyi

Protein namesi
Recommended name:
Mucin-2
Short name:
MUC-2
Alternative name(s):
Intestinal mucin-2
Gene namesi
Name:MUC2
Synonyms:SMUC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:7512. MUC2.

Subcellular locationi

Secreted
Note: In the intestine, secreted into the inner and outer mucus layers By similarity.

GO - Cellular componenti

  1. Golgi lumen Source: Reactome
  2. inner mucus layer Source: UniProtKB
  3. outer mucus layer Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA31316.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2020 Reviewed prediction
Add
BLAST
Chaini21 – 51795159Mucin-2
PRO_0000019281Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi? ↔ 5159 By similarity
Modified residuei21 – 211Phosphoserine1 Publication
Disulfide bondi59 ↔ 67 By similarity
Glycosylationi163 – 1631N-linked (GlcNAc...) Reviewed prediction
Glycosylationi423 – 4231N-linked (GlcNAc...) Reviewed prediction
Glycosylationi670 – 6701N-linked (GlcNAc...) Reviewed prediction
Glycosylationi770 – 7701N-linked (GlcNAc...) Reviewed prediction
Glycosylationi894 – 8941N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1139 – 11391N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1154 – 11541N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1215 – 12151N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1230 – 12301N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1246 – 12461N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1787 – 17871N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1820 – 18201N-linked (GlcNAc...) Reviewed prediction
Glycosylationi4339 – 43391N-linked (GlcNAc...) Reviewed prediction
Glycosylationi4351 – 43511N-linked (GlcNAc...) Reviewed prediction
Glycosylationi4362 – 43621N-linked (GlcNAc...) Reviewed prediction
Glycosylationi4373 – 43731N-linked (GlcNAc...) Reviewed prediction
Glycosylationi4422 – 44221N-linked (GlcNAc...) Reviewed prediction
Glycosylationi4438 – 44381N-linked (GlcNAc...) Reviewed prediction
Glycosylationi4502 – 45021N-linked (GlcNAc...) Reviewed prediction
Glycosylationi4616 – 46161N-linked (GlcNAc...) Reviewed prediction
Glycosylationi4627 – 46271N-linked (GlcNAc...) Reviewed prediction
Glycosylationi4752 – 47521N-linked (GlcNAc...) Reviewed prediction
Glycosylationi4787 – 47871N-linked (GlcNAc...) Reviewed prediction
Glycosylationi4881 – 48811N-linked (GlcNAc...) Reviewed prediction
Glycosylationi4888 – 48881N-linked (GlcNAc...) Reviewed prediction
Glycosylationi4955 – 49551N-linked (GlcNAc...) Reviewed prediction
Glycosylationi4970 – 49701N-linked (GlcNAc...) Reviewed prediction
Glycosylationi5019 – 50191N-linked (GlcNAc...) Reviewed prediction
Glycosylationi5038 – 50381N-linked (GlcNAc...) Reviewed prediction
Glycosylationi5069 – 50691N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi5075 ↔ 5122 By similarity
Disulfide bondi5089 ↔ 5136 By similarity
Disulfide bondi5098 ↔ 5152 By similarity
Disulfide bondi5102 ↔ 5154 By similarity

Post-translational modificationi

O-glycosylated.1 Publication
May undergo proteolytic cleavage in the outer mucus layer of the colon, contributing to the expanded volume and loose nature of this layer which allows for bacterial colonization in contrast to the inner mucus layer which is dense and devoid of bacteria By similarity.
At low pH of 6 and under, undergoes autocatalytic cleavage in vitro in the N-terminal region of the fourth VWD domain. It is likely that this also occurs in vivo and is triggered by the low pH of the late secretory pathway.

Keywords - PTMi

Autocatalytic cleavage, Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ02817.
PRIDEiQ02817.

PTM databases

PhosphoSiteiQ02817.
UniCarbKBiQ02817.

Expressioni

Tissue specificityi

Colon, small intestine, colonic tumors, bronchus, cervix and gall bladder.

Gene expression databases

ArrayExpressiQ02817.
BgeeiQ02817.
CleanExiHS_MUC2.
GenevestigatoriQ02817.

Organism-specific databases

HPAiCAB005317.
CAB016275.
HPA006197.

Interactioni

Subunit structurei

Homotrimer; disulfide-linked. Dimerizes in the endoplasmic reticulum via its C-terminal region and polymerizes via its N-terminal region by disulfide-linked trimerization. Interacts with FCGBP. Interacts with AGR2; disulfide-linked.3 Publications

Protein-protein interaction databases

BioGridi110670. 3 interactions.
DIPiDIP-48824N.
IntActiQ02817. 2 interactions.
STRINGi9606.ENSP00000415183.

Structurei

3D structure databases

ProteinModelPortaliQ02817.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini36 – 240205VWFD 1
Add
BLAST
Domaini295 – 35157TIL
Add
BLAST
Domaini390 – 604215VWFD 2
Add
BLAST
Domaini859 – 1065207VWFD 3
Add
BLAST
Repeati1401 – 1416161
Add
BLAST
Repeati1417 – 1432162
Add
BLAST
Repeati1433 – 1448163
Add
BLAST
Repeati1449 – 1464164
Add
BLAST
Repeati1465 – 147175
Repeati1472 – 147876
Repeati1479 – 1494167A
Add
BLAST
Repeati1495 – 1517237B
Add
BLAST
Repeati1518 – 1533168A
Add
BLAST
Repeati1534 – 1556238B
Add
BLAST
Repeati1557 – 1572169A
Add
BLAST
Repeati1573 – 1596249B
Add
BLAST
Repeati1597 – 16121610A
Add
BLAST
Repeati1613 – 16352310B
Add
BLAST
Repeati1636 – 16511611A
Add
BLAST
Repeati1652 – 16752411B
Add
BLAST
Repeati1676 – 1683812
Repeati1684 – 16991613
Add
BLAST
Repeati1700 – 17151614
Add
BLAST
Repeati1716 – 17311615
Add
BLAST
Repeati1732 – 17471616
Add
BLAST
Domaini4480 – 4690211VWFD 4
Add
BLAST
Domaini4815 – 488672VWFC 1
Add
BLAST
Domaini4924 – 499168VWFC 2
Add
BLAST
Domaini5075 – 516086CTCK
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1401 – 1747347Approximate repeats
Add
BLAST

Sequence similaritiesi

Contains 2 VWFC domains.
Contains 4 VWFD domains.

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiNOG12793.
HOGENOMiHOG000168234.
HOVERGENiHBG004380.
InParanoidiQ02817.
KOiK10955.

Family and domain databases

InterProiIPR006207. Cys_knot_C.
IPR028580. MUC2.
IPR002919. TIL_dom.
IPR014853. Unchr_dom_Cys-rich.
IPR006552. VWC_out.
IPR001007. VWF_C.
IPR001846. VWF_type-D.
IPR025155. WxxW_domain.
[Graphical view]
PANTHERiPTHR11339:SF261. PTHR11339:SF261. 1 hit.
PfamiPF08742. C8. 4 hits.
PF13330. Mucin2_WxxW. 2 hits.
PF01826. TIL. 1 hit.
PF00094. VWD. 4 hits.
[Graphical view]
SMARTiSM00832. C8. 4 hits.
SM00041. CT. 1 hit.
SM00214. VWC. 2 hits.
SM00215. VWC_out. 1 hit.
SM00216. VWD. 4 hits.
[Graphical view]
SUPFAMiSSF57567. SSF57567. 4 hits.
PROSITEiPS01185. CTCK_1. 1 hit.
PS01225. CTCK_2. 1 hit.
PS01208. VWFC_1. 2 hits.
PS50184. VWFC_2. 2 hits.
PS51233. VWFD. 4 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q02817-1 [UniParc]FASTAAdd to Basket

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MGLPLARLAA VCLALSLAGG SELQTEGRTR YHGRNVCSTW GNFHYKTFDG     50
DVFRFPGLCD YNFASDCRGS YKEFAVHLKR GPGQAEAPAG VESILLTIKD 100
DTIYLTRHLA VLNGAVVSTP HYSPGLLIEK SDAYTKVYSR AGLTLMWNRE 150
DALMLELDTK FRNHTCGLCG DYNGLQSYSE FLSDGVLFSP LEFGNMQKIN 200
QPDVVCEDPE EEVAPASCSE HRAECERLLT AEAFADCQDL VPLEPYLRAC 250
QQDRCRCPGG DTCVCSTVAE FSRQCSHAGG RPGNWRTATL CPKTCPGNLV 300
YLESGSPCMD TCSHLEVSSL CEEHRMDGCF CPEGTVYDDI GDSGCVPVSQ 350
CHCRLHGHLY TPGQEITNDC EQCVCNAGRW VCKDLPCPGT CALEGGSHIT 400
TFDGKTYTFH GDCYYVLAKG DHNDSYALLG ELAPCGSTDK QTCLKTVVLL 450
ADKKKNAVVF KSDGSVLLNQ LQVNLPHVTA SFSVFRPSSY HIMVSMAIGV 500
RLQVQLAPVM QLFVTLDQAS QGQVQGLCGN FNGLEGDDFK TASGLVEATG 550
AGFANTWKAQ STCHDKLDWL DDPCSLNIES ANYAEHWCSL LKKTETPFGR 600
CHSAVDPAEY YKRCKYDTCN CQNNEDCLCA ALSSYARACT AKGVMLWGWR 650
EHVCNKDVGS CPNSQVFLYN LTTCQQTCRS LSEADSHCLE GFAPVDGCGC 700
PDHTFLDEKG RCVPLAKCSC YHRGLYLEAG DVVVRQEERC VCRDGRLHCR 750
QIRLIGQSCT APKIHMDCSN LTALATSKPR ALSCQTLAAG YYHTECVSGC 800
VCPDGLMDDG RGGCVVEKEC PCVHNNDLYS SGAKIKVDCN TCTCKRGRWV 850
CTQAVCHGTC SIYGSGHYIT FDGKYYDFDG HCSYVAVQDY CGQNSSLGSF 900
SIITENVPCG TTGVTCSKAI KIFMGRTELK LEDKHRVVIQ RDEGHHVAYT 950
TREVGQYLVV ESSTGIIVIW DKRTTVFIKL APSYKGTVCG LCGNFDHRSN 1000
NDFTTRDHMV VSSELDFGNS WKEAPTCPDV STNPEPCSLN PHRRSWAEKQ 1050
CSILKSSVFS ICHSKVDPKP FYEACVHDSC SCDTGGDCEC FCSAVASYAQ 1100
ECTKEGACVF WRTPDLCPIF CDYYNPPHEC EWHYEPCGNR SFETCRTING 1150
IHSNISVSYL EGCYPRCPKD RPIYEEDLKK CVTADKCGCY VEDTHYPPGA 1200
SVPTEETCKS CVCTNSSQVV CRPEEGKILN QTQDGAFCYW EICGPNGTVE 1250
KHFNICSITT RPSTLTTFTT ITLPTTPTSF TTTTTTTTPT SSTVLSTTPK 1300
LCCLWSDWIN EDHPSSGSDD GDREPFDGVC GAPEDIECRS VKDPHLSLEQ 1350
HGQKVQCDVS VGFICKNEDQ FGNGPFGLCY DYKIRVNCCW PMDKCITTPS 1400
PPTTTPSPPP TTTTTLPPTT TPSPPTTTTT TPPPTTTPSP PITTTTTPLP 1450
TTTPSPPIST TTTPPPTTTP SPPTTTPSPP TTTPSPPTTT TTTPPPTTTP 1500
SPPMTTPITP PASTTTLPPT TTPSPPTTTT TTPPPTTTPS PPTTTPITPP 1550
TSTTTLPPTT TPSPPPTTTT TPPPTTTPSP PTTTTPSPPT ITTTTPPPTT 1600
TPSPPTTTTT TPPPTTTPSP PTTTPITPPT STTTLPPTTT PSPPPTTTTT 1650
PPPTTTPSPP TTTTPSPPIT TTTTPPPTTT PSSPITTTPS PPTTTMTTPS 1700
PTTTPSSPIT TTTTPSSTTT PSPPPTTMTT PSPTTTPSPP TTTMTTLPPT 1750
TTSSPLTTTP LPPSITPPTF SPFSTTTPTT PCVPLCNWTG WLDSGKPNFH 1800
KPGGDTELIG DVCGPGWAAN ISCRATMYPD VPIGQLGQTV VCDVSVGLIC 1850
KNEDQKPGGV IPMAFCLNYE INVQCCECVT QPTTMTTTTT ENPTPPTTTP 1900
ITTTTTVTPT PTPTGTQTPT TTPITTTTTV TPTPTPTGTQ TPTTTPITTT 1950
TTVTPTPTPT GTQTPTTTPI TTTTTVTPTP TPTGTQTPTT TPITTTTTVT 2000
PTPTPTGTQT PTTTPITTTT TVTPTPTPTG TQTPTTTPIT TTTTVTPTPT 2050
PTGTQTPTTT PITTTTTVTP TPTPTGTQTP TTTPITTTTT VTPTPTPTGT 2100
QTPTTTPITT TTTVTPTPTP TGTQTPTTTP ITTTTTVTPT PTPTGTQTPT 2150
TTPITTTTTV TPTPTPTGTQ TPTTTPITTT TTVTPTPTPT GTQTPTTTPI 2200
TTTTTVTPTP TPTGTQTPTT TPITTTTTVT PTPTPTGTQT PTTTPITTTT 2250
TVTPTPTPTG TQTPTTTPIT TTTTVTPTPT PTGTQTPTTT PITTTTTVTP 2300
TPTPTGTQTP TTTPITTTTT VTPTPTPTGT QTPTTTPITT TTTVTPTPTP 2350
TGTQTPTTTP ITTTTTVTPT PTPTGTQTPT TTPITTTTTV TPTPTPTGTQ 2400
TPTTTPITTT TTVTPTPTPT GTQTPTTTPI TTTTTVTPTP TPTGTQTPTT 2450
TPITTTTTVT PTPTPTGTQT PTTTPITTTT TVTPTPTPTG TQTPTTTPIT 2500
TTTTVTPTPT PTGTQTPTTT PITTTTTVTP TPTPTGTQTP TTTPITTTTT 2550
VTPTPTPTGT QTPTTTPITT TTTVTPTPTP TGTQTPTTTP ITTTTTVTPT 2600
PTPTGTQTPT TTPITTTTTV TPTPTPTGTQ TPTTTPITTT TTVTPTPTPT 2650
GTQTPTTTPI TTTTTVTPTP TPTGTQTPTT TPITTTTTVT PTPTPTGTQT 2700
PTTTPITTTT TVTPTPTPTG TQTPTTTPIT TTTTVTPTPT PTGTQTPTTT 2750
PITTTTTVTP TPTPTGTQTP TTTPITTTTT VTPTPTPTGT QTPTTTPITT 2800
TTTVTPTPTP TGTQTPTTTP ITTTTTVTPT PTPTGTQTPT TTPITTTTTV 2850
TPTPTPTGTQ TPTTTPITTT TTVTPTPTPT GTQTPTTTPI TTTTTVTPTP 2900
TPTGTQTPTT TPITTTTTVT PTPTPTGTQT PTTTPITTTT TVTPTPTPTG 2950
TQTPTTTPIT TTTTVTPTPT PTGTQTPTTT PITTTTTVTP TPTPTGTQTP 3000
TTTPITTTTT VTPTPTPTGT QTPTTTPITT TTTVTPTPTP TGTQTPTTTP 3050
ITTTTTVTPT PTPTGTQTPT TTPITTTTTV TPTPTPTGTQ TPTTTPITTT 3100
TTVTPTPTPT GTQTPTTTPI TTTTTVTPTP TPTGTQTPTT TPITTTTTVT 3150
PTPTPTGTQT PTTTPITTTT TVTPTPTPTG TQTPTTTPIT TTTTVTPTPT 3200
PTGTQTPTTT PITTTTTVTP TPTPTGTQTP TTTPITTTTT VTPTPTPTGT 3250
QTPTTTPITT TTTVTPTPTP TGTQTPTTTP ITTTTTVTPT PTPTGTQTPT 3300
TTPITTTTTV TPTPTPTGTQ TPTTTPITTT TTVTPTPTPT GTQTPTTTPI 3350
TTTTTVTPTP TPTGTQTPTT TPITTTTTVT PTPTPTGTQT PTTTPITTTT 3400
TVTPTPTPTG TQTPTTTPIT TTTTVTPTPT PTGTQTPTTT PITTTTTVTP 3450
TPTPTGTQTP TTTPITTTTT VTPTPTPTGT QTPTTTPITT TTTVTPTPTP 3500
TGTQTPTTTP ITTTTTVTPT PTPTGTQTPT TTPITTTTTV TPTPTPTGTQ 3550
TPTTTPITTT TTVTPTPTPT GTQTPTTTPI TTTTTVTPTP TPTGTQTPTT 3600
TPITTTTTVT PTPTPTGTQT PTTTPITTTT TVTPTPTPTG TQTPTTTPIT 3650
TTTTVTPTPT PTGTQTPTTT PITTTTTVTP TPTPTGTQTP TTTPITTTTT 3700
VTPTPTPTGT QTPTTTPITT TTTVTPTPTP TGTQTPTTTP ITTTTTVTPT 3750
PTPTGTQTPT TTPITTTTTV TPTPTPTGTQ TPTTTPITTT TTVTPTPTPT 3800
GTQTPTTTPI TTTTTVTPTP TPTGTQTPTT TPITTTTTVT PTPTPTGTQT 3850
PTTTPITTTT TVTPTPTPTG TQTPTTTPIT TTTTVTPTPT PTGTQTPTTT 3900
PITTTTTVTP TPTPTGTQTP TTTPITTTTT VTPTPTPTGT QTPTTTPITT 3950
TTTVTPTPTP TGTQTPTTTP ITTTTTVTPT PTPTGTQTPT TTPITTTTTV 4000
TPTPTPTGTQ TPTTTPITTT TTVTPTPTPT GTQTPTTTPI TTTTTVTPTP 4050
TPTGTQTPTT TPITTTTTVT PTPTPTGTQT PTTTPITTTT TVTPTPTPTG 4100
TQTPTTTPIT TTTTVTPTPT PTGTQTPTTT PITTTTTVTP TPTPTGTQTP 4150
TTTPITTTTT VTPTPTPTGT QTPTTTPITT TTTVTPTPTP TGTQTGPPTH 4200
TSTAPIAELT TSNPPPESST PQTSRSTSSP LTESTTLLST LPPAIEMTST 4250
APPSTPTAPT TTSGGHTLSP PPSTTTSPPG TPTRGTTTGS SSAPTPSTVQ 4300
TTTTSAWTPT PTPLSTPSII RTTGLRPYPS SVLICCVLND TYYAPGEEVY 4350
NGTYGDTCYF VNCSLSCTLE FYNWSCPSTP SPTPTPSKST PTPSKPSSTP 4400
SKPTPGTKPP ECPDFDPPRQ ENETWWLCDC FMATCKYNNT VEIVKVECEP 4450
PPMPTCSNGL QPVRVEDPDG CCWHWECDCY CTGWGDPHYV TFDGLYYSYQ 4500
GNCTYVLVEE ISPSVDNFGV YIDNYHCDPN DKVSCPRTLI VRHETQEVLI 4550
KTVHMMPMQV QVQVNRQAVA LPYKKYGLEV YQSGINYVVD IPELGVLVSY 4600
NGLSFSVRLP YHRFGNNTKG QCGTCTNTTS DDCILPSGEI VSNCEAAADQ 4650
WLVNDPSKPH CPHSSSTTKR PAVTVPGGGK TTPHKDCTPS PLCQLIKDSL 4700
FAQCHALVPP QHYYDACVFD SCFMPGSSLE CASLQAYAAL CAQQNICLDW 4750
RNHTHGACLV ECPSHREYQA CGPAEEPTCK SSSSQQNNTV LVEGCFCPEG 4800
TMNYAPGFDV CVKTCGCVGP DNVPREFGEH FEFDCKNCVC LEGGSGIICQ 4850
PKRCSQKPVT HCVEDGTYLA TEVNPADTCC NITVCKCNTS LCKEKPSVCP 4900
LGFEVKSKMV PGRCCPFYWC ESKGVCVHGN AEYQPGSPVY SSKCQDCVCT 4950
DKVDNNTLLN VIACTHVPCN TSCSPGFELM EAPGECCKKC EQTHCIIKRP 5000
DNQHVILKPG DFKSDPKNNC TFFSCVKIHN QLISSVSNIT CPNFDASICI 5050
PGSITFMPNG CCKTCTPRNE TRVPCSTVPV TTEVSYAGCT KTVLMNHCSG 5100
SCGTFVMYSA KAQALDHSCS CCKEEKTSQR EVVLSCPNGG SLTHTYTHIE 5150
SCQCQDTVCG LPTGTSRRAR RSPRHLGSG 5179
Length:5,179
Mass (Da):540,300
Last modified:November 1, 1997 - v2
Checksum:i85CD7571FB9A5663
GO

Polymorphismi

The number of repeats is highly polymorphic and varies among different alleles.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti58 – 581L → P.
Corresponds to variant rs2856111 [ dbSNP | Ensembl ].
VAR_056582
Natural varianti116 – 1161V → M.
Corresponds to variant rs11825977 [ dbSNP | Ensembl ].
VAR_056583
Natural varianti832 – 8321G → S.
Corresponds to variant rs11245936 [ dbSNP | Ensembl ].
VAR_056584
Natural varianti1619 – 16191S → R.
Corresponds to variant rs11245947 [ dbSNP | Ensembl ].
VAR_059531
Natural varianti1689 – 16891P → L.
Corresponds to variant rs11245949 [ dbSNP | Ensembl ].
VAR_059532
Natural varianti1768 – 17681P → H.
Corresponds to variant rs34493663 [ dbSNP | Ensembl ].
VAR_061487
Natural varianti2154 – 21541I → T.
Corresponds to variant rs6421972 [ dbSNP | Ensembl ].
VAR_059533
Natural varianti2524 – 25241T → P.
Corresponds to variant rs7480563 [ dbSNP | Ensembl ].
VAR_059534
Natural varianti2524 – 25241T → S.
Corresponds to variant rs7480563 [ dbSNP | Ensembl ].
VAR_059535
Natural varianti2653 – 26531Q → L.
Corresponds to variant rs7126405 [ dbSNP | Ensembl ].
VAR_059536
Natural varianti2653 – 26531Q → P.
Corresponds to variant rs7126405 [ dbSNP | Ensembl ].
VAR_059537

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1351 – 13511H → L in AAA59875. 1 Publication
Sequence conflicti1412 – 14121T → S in AAA59875. 1 Publication
Sequence conflicti1449 – 14491L → P in AAA59875. 1 Publication
Sequence conflicti1504 – 15041M → T in AAA59875. 1 Publication
Sequence conflicti4076 – 40838TGTQTPTT → NGLQAPTP1 Publication
Sequence conflicti4087 – 40871T → S1 Publication
Sequence conflicti4130 – 41312TP → VL1 Publication
Sequence conflicti4138 – 41381V → M1 Publication
Sequence conflicti4146 – 41527GTQTPTT → STKSTTV1 Publication
Sequence conflicti4163 – 41631P → A1 Publication
Sequence conflicti4175 – 41762TT → MI1 Publication
Sequence conflicti4179 – 41791T → S1 Publication
Sequence conflicti4192 – 41943GTQ → TGS1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L21998 mRNA. Translation: AAB95295.1.
M74027 Genomic DNA. Translation: AAA59875.1.
M94131 mRNA. Translation: AAA59163.1.
M94132 mRNA. Translation: AAA59164.1.
PIRiA49963. A43932.
RefSeqiNP_002448.3. NM_002457.3.
UniGeneiHs.315.

Genome annotation databases

EnsembliENST00000359061; ENSP00000351956; ENSG00000198788.
GeneIDi4583.
KEGGihsa:4583.
UCSCiuc001lsx.1. human.

Polymorphism databases

DMDMi2506877.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Mucin database
Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L21998 mRNA. Translation: AAB95295.1 .
M74027 Genomic DNA. Translation: AAA59875.1 .
M94131 mRNA. Translation: AAA59163.1 .
M94132 mRNA. Translation: AAA59164.1 .
PIRi A49963. A43932.
RefSeqi NP_002448.3. NM_002457.3.
UniGenei Hs.315.

3D structure databases

ProteinModelPortali Q02817.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110670. 3 interactions.
DIPi DIP-48824N.
IntActi Q02817. 2 interactions.
STRINGi 9606.ENSP00000415183.

Chemistry

DrugBanki DB01411. Pranlukast.

PTM databases

PhosphoSitei Q02817.
UniCarbKBi Q02817.

Polymorphism databases

DMDMi 2506877.

Proteomic databases

PaxDbi Q02817.
PRIDEi Q02817.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000359061 ; ENSP00000351956 ; ENSG00000198788 .
GeneIDi 4583.
KEGGi hsa:4583.
UCSCi uc001lsx.1. human.

Organism-specific databases

CTDi 4583.
GeneCardsi GC11P001064.
HGNCi HGNC:7512. MUC2.
HPAi CAB005317.
CAB016275.
HPA006197.
MIMi 158370. gene.
neXtProti NX_Q02817.
PharmGKBi PA31316.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG12793.
HOGENOMi HOG000168234.
HOVERGENi HBG004380.
InParanoidi Q02817.
KOi K10955.

Enzyme and pathway databases

Reactomei REACT_115606. O-linked glycosylation of mucins.
REACT_115835. Termination of O-glycan biosynthesis.

Miscellaneous databases

ChiTaRSi MUC2. human.
GeneWikii MUC2.
GenomeRNAii 4583.
NextBioi 17613.
PROi Q02817.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q02817.
Bgeei Q02817.
CleanExi HS_MUC2.
Genevestigatori Q02817.

Family and domain databases

InterProi IPR006207. Cys_knot_C.
IPR028580. MUC2.
IPR002919. TIL_dom.
IPR014853. Unchr_dom_Cys-rich.
IPR006552. VWC_out.
IPR001007. VWF_C.
IPR001846. VWF_type-D.
IPR025155. WxxW_domain.
[Graphical view ]
PANTHERi PTHR11339:SF261. PTHR11339:SF261. 1 hit.
Pfami PF08742. C8. 4 hits.
PF13330. Mucin2_WxxW. 2 hits.
PF01826. TIL. 1 hit.
PF00094. VWD. 4 hits.
[Graphical view ]
SMARTi SM00832. C8. 4 hits.
SM00041. CT. 1 hit.
SM00214. VWC. 2 hits.
SM00215. VWC_out. 1 hit.
SM00216. VWD. 4 hits.
[Graphical view ]
SUPFAMi SSF57567. SSF57567. 4 hits.
PROSITEi PS01185. CTCK_1. 1 hit.
PS01225. CTCK_2. 1 hit.
PS01208. VWFC_1. 2 hits.
PS50184. VWFC_2. 2 hits.
PS51233. VWFD. 4 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning of human intestinal mucin (MUC2) cDNA. Identification of the amino terminus and overall sequence similarity to prepro-von Willebrand factor."
    Gum J.R. Jr., Hicks J.W., Toribara N.W., Siddiki B., Kim Y.S.
    J. Biol. Chem. 269:2440-2446(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Intestine.
  2. "The human MUC2 intestinal mucin has cysteine-rich subdomains located both upstream and downstream of its central repetitive region."
    Gum J.R. Jr., Hicks J.W., Toribara N.W., Rothe E.-M., Lagace R.E., Kim Y.S.
    J. Biol. Chem. 267:21375-21383(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 626-1895 AND 4196-5179.
    Tissue: Colon.
  3. "MUC-2 human small intestinal mucin gene structure. Repeated arrays and polymorphism."
    Toribara N.W., Gum J.R. Jr., Culhane P.J., Lagace R.E., Hicks J.W., Petersen G.M., Kim Y.S.
    J. Clin. Invest. 88:1005-1013(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1343-1895 AND 4176-4195.
  4. "Molecular cloning of human intestinal mucin cDNAs. Sequence analysis and evidence for genetic polymorphism."
    Gum J.R. Jr., Byrd J.C., Hicks J.W., Toribara N.W., Lamport D.T.A., Kim Y.S.
    J. Biol. Chem. 264:6480-6487(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 4075-4352.
  5. "Human intestinal mucin-like protein (MLP) is homologous with rat MLP in the C-terminal region, and is encoded by a gene on chromosome 11 p 15.5."
    Xu G., Huan L., Khatri I., Sajjan U.S., McCool D., Wang D., Jones C., Forstner G., Forstner J.
    Biochem. Biophys. Res. Commun. 183:821-828(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 4487-4627.
  6. Cited for: STRUCTURE OF O-LINKED CARBOHYDRATES.
  7. "The N terminus of the MUC2 mucin forms trimers that are held together within a trypsin-resistant core fragment."
    Godl K., Johansson M.E.V., Lidell M.E., Moergelin M., Karlsson H., Olson F.J., Gum J.R. Jr., Kim Y.S., Hansson G.C.
    J. Biol. Chem. 277:47248-47256(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBUNIT.
  8. "An autocatalytic cleavage in the C terminus of the human MUC2 mucin occurs at the low pH of the late secretory pathway."
    Lidell M.E., Johansson M.E.V., Hansson G.C.
    J. Biol. Chem. 278:13944-13951(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: AUTOCATALYTIC CLEAVAGE.
  9. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-21, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. "The protein disulfide isomerase AGR2 is essential for production of intestinal mucus."
    Park S.-W., Zhen G., Verhaeghe C., Nakagami Y., Nguyenvu L.T., Barczak A.J., Killeen N., Erle D.J.
    Proc. Natl. Acad. Sci. U.S.A. 106:6950-6955(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH AGR2.
  11. "Proteomic analyses of the two mucus layers of the colon barrier reveal that their main component, the Muc2 mucin, is strongly bound to the Fcgbp protein."
    Johansson M.E.V., Thomsson K.A., Hansson G.C.
    J. Proteome Res. 8:3549-3557(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY, FUNCTION, INTERACTION WITH FCGBP.

Entry informationi

Entry nameiMUC2_HUMAN
AccessioniPrimary (citable) accession number: Q02817
Secondary accession number(s): Q14878
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: November 1, 1997
Last modified: September 3, 2014
This is version 131 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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