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MUC19 Gene

protein-coding   GIFtS: 41
GCID: GC12P040788

Mucin 19, Oligomeric

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Mucin 19, Oligomeric1 2
MUC-192 3
mucin-192
EC 2.7.7.68
EC 4.2.3.48
EC 4.2.3.58

External Ids:    HGNC: 143621   Entrez Gene: 2834632   Ensembl: ENSG000002055927   OMIM: 6121705   UniProtKB: Q7Z5P93   
ORGUL members:         

Export aliases for MUC19 gene to outside databases

Previous GC identifers: GC12P040574 GC12P039144 GC12P039222 GC12P037953


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MUC19 Gene:
Mucus is a viscoelastic substance that covers the epithelial surface of various tissues, providing lubrication and
protection from environmental insults. The gel-like properties of mucus are generally attributed to the physical
properties and structural features of gel-forming mucins, such as MUC19 (Chen et al., 2004 (PubMed
12882755)).(supplied by OMIM, Jul 2008)

GeneCards Summary for MUC19 Gene:
MUC19 (mucin 19, oligomeric) is a protein-coding gene. An important paralog of this gene is MUC5AC.

UniProtKB/Swiss-Prot: MUC19_HUMAN, Q7Z5P9
Function: May function in ocular mucus homeostasis




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the MUC19 gene promoter:
         RSRFC4   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for MUC19

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MUC19


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q12   Ensembl cytogenetic band:  12q12   HGNC cytogenetic band: 12q12

MUC19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MUC19 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P040788:  view genomic region     (about GC identifiers)

Start:
40,787,197 bp from pter      End:
40,964,632 bp from pter
Size:
177,436 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MUC19_HUMAN, Q7Z5P9 (See protein sequence)
Recommended Name: Mucin-19 precursor  
Size: 6254 amino acids; 598155 Da
Sequence caution: Sequence=BAC04041.1; Type=Erroneous initiation;
Secondary accessions: Q8NA85
Alternative splicing: 2 isoforms:  Q7Z5P9-1   Q7Z5P9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MUC19: NX_Q7Z5P9

Explore proteomics data for MUC19 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for MUC19 (Q7Z5P9)
     LAEVTGT  SVGGKTG  RSSARET 


    See MUC19 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_775871.2  
    ENSEMBL proteins: 
     ENSP00000395253   ENSP00000476404   ENSP00000388702   ENSP00000370195   ENSP00000446202  
    Reactome Protein details: Q7Z5P9

    MUC19 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for MUC19

     
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    Cloud-Clone Corp. ELISAs for MUC19
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    antibodies-online kits for MUC19 (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    MUC: Mucins

    5 InterPro protein domains:
     IPR014853 Unchr_dom_Cys-rich
     IPR006207 Cys_knot_C
     IPR002919 TIL_dom
     IPR001007 VWF_C
     IPR001846 VWF_type-D

    Graphical View of Domain Structure for InterPro Entry Q7Z5P9

    ProtoNet protein and cluster: Q7Z5P9

    2 Blocks protein domains:
    IPB001007 von Willebrand factor
    IPB006207 Cystine knot


    UniProtKB/Swiss-Prot: MUC19_HUMAN, Q7Z5P9
    Similarity: Contains 1 CTCK (C-terminal cystine knot-like) domain
    Similarity: Contains 2 VWFC domains
    Similarity: Contains 3 VWFD domains


    Find genes that share domains with MUC19           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MUC19_HUMAN, Q7Z5P9
    Function: May function in ocular mucus homeostasis
    Induction: Down-regulated in Sjoegren syndrome patients (at protein level)

         Enzyme Numbers (IUBMB): EC 4.2.3.52 EC 2.7.7.62 EC 4.2.3.42

    Animal Models:

       genOway: Develop your customized and physiologically relevant rodent model for MUC19

    miRNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MUC19

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MUC19_HUMAN, Q7Z5P9: Secreted (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus4
    extracellular3
    plasma membrane3
    endoplasmic reticulum1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005796Golgi lumen TAS--

    Find genes that share ontologies with MUC19           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Find genes that share SuperPaths with MUC19           About GenesLikeMe

    Pathways by sourceSee SuperPaths
    Show all pathways


    2 Reactome Pathways for MUC19
        O-linked glycosylation of mucins
    Termination of O-glycan biosynthesis


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MUC19
    Interactions:

        Search GeneGlobe Interaction Network for MUC19

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MUC19 (ENSP000003952534) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MUC1ENSP000003389834STRING: ENSP00000338983
    MUC12ENSP000003687554STRING: ENSP00000368755
    MUC13ENSP000003122354STRING: ENSP00000312235
    MUC15ENSP000004167534STRING: ENSP00000416753
    MUC17ENSP000003027164STRING: ENSP00000302716
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    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016266O-glycan processing TAS--
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--

    Find genes that share ontologies with MUC19           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MUC19



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MUC19 gene: 
    NM_173600.2  

    Unigene Cluster for MUC19:

    Mucin 19, oligomeric
    Hs.632712  [show with all ESTs]
    Unigene Representative Sequence: HM801842
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000425730(uc021qwm.1 uc021qwn.1 uc021qwo.1 uc021qwp.1 uc021qwq.1 uc021qwr.1 uc021qws.1 uc021qwt.1 uc021qwu.1 uc021qwv.1 uc021qww.1 uc021qwx.1 uc021qwy.1 uc021qwz.1 uc021qxa.1 uc021qxb.1 uc021qxc.1 uc021qxd.1 uc021qxe.1)
    ENST00000454784(uc021qxf.1) ENST00000471230 ENST00000543564 ENST00000398702
    ENST00000474954 ENST00000424466 ENST00000423284 ENST00000460785(uc001rmk.1)
    ENST00000380816(uc009zjx.1) ENST00000541039 ENST00000492952 ENST00000542482
    ENST00000484665 ENST00000427572 ENST00000546043
    miRNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MUC19
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    Additional mRNA sequence: 

    AY236870.1 CR749517.1 HM801842.1 HM801843.1 HM801844.1 HM801845.1 HM801846.1 HM801847.1 
    HM801848.1 HM801849.1 HM801850.1 HM801851.1 HM801852.1 HM801853.1 HM801855.1 HM801856.1 
    HM801857.1 HM801858.1 HM801859.1 HM801860.1 HM801861.1 HM801862.1 

    9 DOTS entries:

    DT.121160797  DT.121160798  DT.101970694  DT.91811351  DT.100000649  DT.40248543  DT.121160796  DT.121177732 
    DT.121177736 

    5 AceView cDNA sequences:

    AX747898 AK093065 AW072441 AA910446 AY236870 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MUC19 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATATCTCTTT
    MUC19 Expression
    About this image

    MUC19 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MUC19 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.632712

    UniProtKB/Swiss-Prot: MUC19_HUMAN, Q7Z5P9
    Tissue specificity: Expressed corneal epithelial cells, conjunctival goblet and epithelial cells and lacrimal
    gland cells (at protein level). Expressed by mucous cells of the submandibular gland and submucosal gland of the
    trachea. Expressed by middle ear epithelial cells

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    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MUC19

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for MUC19 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    9(a)
    many ↔ many
    2(407640-442670)
    lizard
    (Anolis carolinensis)
    Reptilia MUC196
    mucin 19, oligomeric
    46(a)
    1 ↔ 1
    5(98069653-98143338)
    zebrafish
    (Danio rerio)
    Actinopterygii MUC196
    mucin 19, oligomeric
    31(a)
    1 ↔ 1
    Zv9_NA27(12524-54683) ENSDARG00000057436
    fruit fly
    (Drosophila melanogaster)
    Insecta Hml6
    Hemolectin
    9(a)
    1 → many
    3L(13839154-13853101)
            Species with no ortholog for MUC19

    ENSEMBL Gene Tree for MUC19 (if available)
    TreeFam Gene Tree for MUC19 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MUC19 gene
    MUC5AC2  ZAN2  TECTA2  MUC22  OTOG2  OTOGL2  MUC62  FCGBP2  
    VWF2  BMPER2  
    2 SIMAP similar genes for MUC19 using alignment to 25 protein entries:     MUC19_HUMAN (see all proteins):
    MUC2    MUC5AC

    Find genes that share paralogs with MUC19           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for MUC19
    PGOHUM00000249719


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MUC19 (see all 4654)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs107845951,2
    C,F,A,H--37827581(+) ACACCC/TCAGCA 2 P S mis112Minor allele frequency- T:0.40NS EA NA CSA WA 790
    rs107845961,2
    C,F,A,H--37827587(+) CAGCAG/CGTACT 2 /R /G mis112Minor allele frequency- C:0.40NS EA NA WA 790
    rs2012903381,2
    C--37831011(+) CACCTG/TGGAAA 1 -- int10--------
    rs108785381,2
    C,F,H--37833559(+) GCTGGG/CATGCT 2 /H /D mis113Minor allele frequency- C:0.14NS EA NA EU 1671
    rs79589871,2,,4
    C,F,A,H--37849475(+) GAGAAG/ATCCGA 2 /I /V mis128Minor allele frequency- A:0.29NA NS EA WA EU 3425
    rs108785921,2
    C,F,A,H--37861972(+) TCCAGC/GGTCTG 2 C W mis122Minor allele frequency- G:0.48NS EA NA WA CSA EU 1980
    rs107846211,2,,4
    C,F,A,H--37865806(+) TGATGT/CGTGCA 2 /A /V mis132Minor allele frequency- C:0.49NA NS EA WA CSA EU 3561
    rs108785971,2
    C,F,A,H--37867915(+) CTTACC/TTGGAT 2 L syn127Minor allele frequency- T:0.50NA NS EA WA CSA EU 3156
    rs714343251,2
    C--37888537(+) AAATT-/AAA/AA
    AA
    /TAAAA
    AAAAA
    2 -- int1 cds11NA 2
    rs797152761,2
    C--37892393(+) CTAGGC/-AACAC 1 -- int11Minor allele frequency- -:0.00CSA 2

    HapMap Linkage Disequilibrium report for MUC19 (40787197 - 40964632 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MUC19: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MUC19
    DNA2.0 Custom Variant and Variant Library Synthesis for MUC19

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612170    OMIM disorders: --


    Find genes that share disorders with MUC19           About GenesLikeMe

    Genetic Association Database (GAD): MUC19
    Human Genome Epidemiology (HuGE) Navigator: MUC19 (3 documents)

    Export disorders for MUC19 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MUC19 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with MUC19)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genome-wide search and identification of a novel gel-forming mucin MUC19/Muc19 in glandular tissues. (PubMed id 12882755)1, 2, 3 Chen Y.... Wu R. (Am. J. Respir. Cell Mol. Biol. 2004)
    2. Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship. (PubMed id 19068216)1, 4 Anderson C.A....Parkes M. (Gastroenterology 2009)
    3. MUC19 expression in human ocular surface and lacrimal gland and its alteration in Sjogren syndrome patients. (PubMed id 18184611)1, 2 Yu D.F.... Liu Z.G. (Exp. Eye Res. 2008)
    4. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. (PubMed id 18587394)1, 4 Barrett J.C....Daly M.J. (Nat. Genet. 2008)
    5. Mucin gene expression in human middle ear epithelium. (PubMed id 17667140)1, 2 Kerschner J.E. (Laryngoscope 2007)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Genome-wide association study signal at the 12q12 locus for Crohn's disease may represent associations with the MUC19 gene. (PubMed id 23619718)1 Kumar V....Levy E. (Inflamm. Bowel Dis. 2013)
    8. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. (PubMed id 23128233)1 Jostins L....Cho J.H. (Nature 2012)
    9. Expression of mucin (MUC) genes in mucoepidermoid carcinoma. (PubMed id 21072847)1 Shemirani N....Kerschner J.E. (Laryngoscope 2011)
    10. Cloning and Characterization of Human MUC19 Gene. (PubMed id 21075863)1 Zhu L.... Chen Y. (Am. J. Respir. Cell Mol. Biol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 283463 HGNC: 14362 AceView: MUC19 Ensembl:ENSG00000205592 euGenes: HUgn283463
    ECgene: MUC19 H-InvDB: MUC19

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MUC19 Pharmacogenomics, SNPs, Pathways
    Mucin databasehttp://www.medkem.gu.se/mucinbiology/databases/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MUC19 gene:
    Search GeneIP for patents involving MUC19

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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