MUC19 Gene
protein-coding GIFtS: 39
GCID: GC12P040788 (predicted)
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mucin 19, oligomeric
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Aliases
for MUC19 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Mucin 19, Oligomeric1 2 | | EC 2.7.7.68 | | MUC-192 3 | | EC 4.2.3.48 | | FLJ357461 | | EC 4.2.3.58 | | Mucin-191 | | |
Export aliases for MUC19 gene to outside databasesPrevious GC identifers: GC12P040574 GC12P039144 GC12P039222 GC12P037953 |
Summaries
for MUC19 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for MUC19:
Mucus is a viscoelastic substance that covers the epithelial surface of various tissues, providing lubrication andprotection from environmental insults. The gel-like properties of mucus are generally attributed to the physicalproperties and structural features of gel-forming mucins, such as MUC19 (Chen et al., 2004 (PubMed12882755)).(supplied by OMIM, Jul 2008)
UniProtKB/Swiss-Prot: MUC19_HUMAN, Q7Z5P9Function: May function in ocular mucus homeostasis
|
Genomic Views
for MUC19 gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000012.11 NT_029419.12 NC_018923.1
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the MUC19 gene promoter:
RSRFC4
Other transcription factors
Search SABiosciences Chromatin IP Primers for MUC19
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 12q12MUC19 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12P040788: view genomic region
(about GC identifiers)
Start:
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40,787,197 bp from pter |
End:
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40,964,632 bp from pter |
Size:
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177,436 bases |
Orientation:
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plus strand |
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Proteins
for MUC19 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: MUC19_HUMAN, Q7Z5P9 (See
protein sequence)Recommended Name: Mucin-19 precursor Size: 6254 amino acids; 598155 Da
Subcellular location: Secreted (Potential)
Sequence caution: Sequence=BAC04041.1; Type=Erroneous initiation;
Secondary accessions: Q8NA85Alternative splicing: 2 isoforms: Q7Z5P9-1 Q7Z5P9-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for MUC19: NX_Q7Z5P9
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q7Z5P9
3 DME Specific Peptides for MUC19 (Q7Z5P9)
MUC19 Protein expression data from MOPED and PaxDb: About this image 
ENSEMBL proteins: ENSP00000395253 ENSP00000388702 ENSP00000370195 ENSP00000446202 ENSP00000440762 Reactome Protein details: Q7Z5P9
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005576 | extracellular region |
IEA | -- | | GO:0005796 | Golgi lumen |
TAS | -- |
MUC19 for ontologies About GeneDecksing
MUC19 Antibody Products:
Assay Products for MUC19: |
Protein
Domains /
Families
for MUC19 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MUC19 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q7Z5P9ProtoNet protein and cluster: Q7Z5P9 2 Blocks protein families: IPB001007 von Willebrand factor IPB006207 Cystine knot
UniProtKB/Swiss-Prot: MUC19_HUMAN, Q7Z5P9Similarity: Contains 1 CTCK (C-terminal cystine knot-like) domainSimilarity: Contains 2 VWFC domainsSimilarity: Contains 3 VWFD domains |
Function
for MUC19 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: MUC19_HUMAN, Q7Z5P9Function: May function in ocular mucus homeostasisInduction: 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
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Pathways & Interactions
for MUC19 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table 
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Addition of GalNAc to the Tn antigen via an alpha-1,6 linkage forms a Core 7 glycoprotein | | | 2 | Asparagine N-linked glycosylation | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/8 
Reactome Pathways for MUC19 (see all 8)
MUC19 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MUC19
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/44 Interacting proteins for MUC19 (ENSP000003952534) via UniProtKB, MINT, STRING, and/or I2D (see all 44)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016266 | O-glycan processing |
TAS | -- | | GO:0043687 | post-translational protein modification |
TAS | -- | | GO:0044267 | cellular protein metabolic process |
TAS | -- |
MUC19 for ontologies About GeneDecksing
|
Drugs & Compounds
for MUC19 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for MUC19
Search CenterWatch for drugs/clinical trials and news about MUC19
|
Transcripts
for MUC19 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
Unigene Cluster for MUC19: Mucin 19, oligomeric Hs.632712 [show with all ESTs]Unigene Representative Sequence: HM80184217 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 ENST00000538912(uc001rml.1)
Additional cDNA 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 AY236870 AW072441 AA910446
GeneLoc Exon Structure
|
Expression
for MUC19 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| MUC19 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATATCTCTTT
About this image
See MUC19 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MUC19
SOURCE GeneReport for Unigene cluster: Hs.632712
UniProtKB/Swiss-Prot: MUC19_HUMAN, Q7Z5P9Tissue specificity: Expressed corneal epithelial cells, conjunctival goblet and epithelial cells and lacrimal glandcells (at protein level). Expressed by mucous cells of the submandibular gland and submucosal gland of the trachea.Expressed by middle ear epithelial cells
SABiosciences Custom PCR Arrays for MUC19
Primer
Products: |  | Browse OriGene genome-wide validated SYBR primer pairs
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat MUC19 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MUC19 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MUC19 |
Orthologs
for MUC19 gene
(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)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for MUC19 gene from 1/9 species (see all 9) About this table
ENSEMBL Gene Tree for MUC19 (if available)
TreeFam Gene Tree for MUC19 (if available) |
Paralogs
for MUC19 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for MUC19 gene
- MUC5AC2 TECTA2 OTOG2 MUC22 OTOGL2 MUC62 MUC5B2 FCGBP2
- VWF2 BMPER2
4 SIMAP similar genes for MUC19 using alignment to 25 protein entries: MUC19_HUMAN (see all proteins):MUC2 MUC5AC MG1 MUC5B
MUC19 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for MUC19
PGOHUM00000249719
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Genomic Variants
for MUC19 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 12 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for MUC19 (40787197 - 40964632 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MUC19: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MUC19 |
|
Disorders
/ Diseases
for MUC19 gene
(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.)
About This Section
|
MUC19 for disorders About GeneDecksing
OMIM gene information: 612170
OMIM disorders: --
7  diseases for MUC19: About MalaCardsankylosing spondylitis inflammatory bowel disease ulcerative colitis spondylitis
sjogren's syndrome crohn's disease laryngitis
Human Genome Epidemiology (HuGE) Navigator: MUC19 (3 documents)
Export disorders for MUC19 gene to outside databases
|
Publications
for MUC19 gene (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)
About This Section
|
PubMed articles for MUC19 gene, integrated from 9 sources (see all 17):
(articles sorted by number of sources associating them with MUC19) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (2003)
- 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. (2008)
- Mucin gene expression in human middle ear epithelium. (PubMed id 17667140)1, 2 Kerschner J.E. (2007)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Expression of mucin (MUC) genes in mucoepidermoid car cinoma. (PubMed id 21072847)1 Shemirani N....Kerschner J.E. (2011)
- Cloning and Characterization of Human MUC19 Gene. (PubMed id 21075863)1 Zhu L.... Chen Y. (2011)
- Evidence for significant overlap between common risk variants for Crohn's disease and ankylosing spondylitis. (PubMed id 21072187)1 Laukens D....De Vos M. (2010)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- Detailed haplotype-tagging study of germline variatio n of MUC19 in inflammatory bowel disease. (PubMed id 19714762)1 Phillips A.M....Satsangi J. (2010)
- Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. (PubMed id 21102463)1 Franke A....Parkes M. (2010)
|
External Searches for MUC19 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing MUC19 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing MUC19 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MUC19 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for MUC19 | Pharmacogenomics, SNPs, Pathways | | Mucin database | http://www.medkem.gu.se/mucinbiology/databases/ |
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| | |
About This Section
| 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
|
Products
for MUC19 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
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 |
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 |
 |
|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MUC19 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MUC19 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MUC19 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MUC19 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MUC19 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MUC19 |
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 |  |  |  | |
| | | | Search Tocris compounds for MUC19 |
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 | | | MUC19 Proteins, Antibodies, CLIAs, and ELISAs |
| | | |  |  |  | | | | Search ThermoFisher Antibodies for MUC19 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat MUC19 |
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