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Aliases for MUC19 Gene

Aliases for MUC19 Gene

  • Mucin 19, Oligomeric 2 3 5
  • MUC-19 3 4
  • EC 4.2.3.4 61
  • EC 2.7.7.6 61
  • EC 4.2.3.5 61
  • Mucin-19 3

External Ids for MUC19 Gene

Previous GeneCards Identifiers for MUC19 Gene

  • GC12P040574
  • GC12P039144
  • GC12P039222
  • GC12P040788
  • GC12P037953

Summaries for MUC19 Gene

Entrez Gene Summary for MUC19 Gene

  • This gene encodes a member of the gel-forming mucin protein family. Mucin family members are glycoproteins that have tandem repeats which are extensively O-glycosylated. The structural features of mucin proteins are responsible for the gel-like properties of mucus. The encoded protein may be involved in disruption of the ocular surface in Sjogren syndrome. [provided by RefSeq, Apr 2014]

GeneCards Summary for MUC19 Gene

MUC19 (Mucin 19, Oligomeric) is a Protein Coding gene. Diseases associated with MUC19 include Sjogren's Syndrome. Among its related pathways are Immune System and HIV Life Cycle.

UniProtKB/Swiss-Prot for MUC19 Gene

  • May function in ocular mucus homeostasis.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MUC19 Gene

Genomics for MUC19 Gene

Regulatory Elements for MUC19 Gene

Enhancers for MUC19 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F040515 0.5 Ensembl 10.9 +122.2 122207 0.4 SMARCA4 POLR2A IKZF1 SPI1 RNU6-713P MUC19 LOC100420584
GH12F040525 0.2 Ensembl 10.3 +131.7 131707 0.2 RNU6-713P MUC19 LOC100420584
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MUC19 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the MUC19 gene promoter:

Genomic Location for MUC19 Gene

Chromosome:
12
Start:
40,393,394 bp from pter
End:
40,570,832 bp from pter
Size:
177,439 bases
Orientation:
Plus strand

Genomic View for MUC19 Gene

Genes around MUC19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MUC19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MUC19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MUC19 Gene

Proteins for MUC19 Gene

  • Protein details for MUC19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z5P9-MUC19_HUMAN
    Recommended name:
    Mucin-19
    Protein Accession:
    Q7Z5P9
    Secondary Accessions:
    • G3CIG0
    • Q8NA85

    Protein attributes for MUC19 Gene

    Size:
    8384 amino acids
    Molecular mass:
    805253 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC04041.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for MUC19 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MUC19 Gene

Selected DME Specific Peptides for MUC19 Gene

Q7Z5P9:
  • SVGGKTG
  • LAEVTGT
  • RSSARET

Post-translational modifications for MUC19 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MUC19 Gene

REFSEQ proteins:

Domains & Families for MUC19 Gene

Gene Families for MUC19 Gene

HGNC:

Suggested Antigen Peptide Sequences for MUC19 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z5P9

UniProtKB/Swiss-Prot:

MUC19_HUMAN :
  • Contains 1 CTCK (C-terminal cystine knot-like) domain.
Domain:
  • Contains 1 CTCK (C-terminal cystine knot-like) domain.
  • Contains 1 VWFC domain.
  • Contains 3 VWFD domains.
genes like me logo Genes that share domains with MUC19: view

Function for MUC19 Gene

Molecular function for MUC19 Gene

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

Enzyme Numbers (IUBMB) for MUC19 Gene

Phenotypes for MUC19 Gene

genes like me logo Genes that share phenotypes with MUC19: view

Animal Model Products

miRNA for MUC19 Gene

miRTarBase miRNAs that target MUC19

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MUC19 Gene

Localization for MUC19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MUC19 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MUC19 gene
Compartment Confidence
plasma membrane 5
extracellular 5
golgi apparatus 4
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for MUC19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005796 Golgi lumen TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with MUC19: view

Transcripts for MUC19 Gene

mRNA/cDNA for MUC19 Gene

(1) REFSEQ mRNAs :
(22) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MUC19 Gene

Mucin 19, oligomeric:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MUC19 Gene

No ASD Table

Relevant External Links for MUC19 Gene

GeneLoc Exon Structure for
MUC19
ECgene alternative splicing isoforms for
MUC19

Expression for MUC19 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MUC19 Gene

mRNA differential expression in normal tissues according to GTEx for MUC19 Gene

This gene is overexpressed in Minor Salivary Gland (x35.1) and Testis (x11.9).

Protein differential expression in normal tissues from HIPED for MUC19 Gene

This gene is overexpressed in Breast (52.8) and Stomach (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MUC19 Gene



NURSA nuclear receptor signaling pathways regulating expression of MUC19 Gene:

MUC19

SOURCE GeneReport for Unigene cluster for MUC19 Gene:

Hs.632712

mRNA Expression by UniProt/SwissProt for MUC19 Gene:

Q7Z5P9-MUC19_HUMAN
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.
genes like me logo Genes that share expression patterns with MUC19: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for MUC19 Gene

Orthologs for MUC19 Gene

This gene was present in the common ancestor of animals.

Orthologs for MUC19 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MUC19 34 35
  • 96.79 (n)
cow
(Bos Taurus)
Mammalia MUC19 35
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MUC19 35
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MUC19 35
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Muc19 35
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 29 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 35
  • 9 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia MUC19 35
  • 46 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii MUC19 35
  • 31 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hml 35
  • 9 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 26 (a)
ManyToMany
Species where no ortholog for MUC19 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MUC19 Gene

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

Paralogs for MUC19 Gene

No data available for Paralogs for MUC19 Gene

Variants for MUC19 Gene

Sequence variations from dbSNP and Humsavar for MUC19 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs10083205 -- 40,563,648(+) TCACT(A/G)GCCAT intron-variant
rs10161371 -- 40,470,783(+) TGAGT(A/G)TTCTC intron-variant
rs1019709 -- 40,408,348(+) CTGGA(A/G)GTTCA intron-variant, reference, missense
rs1035811 -- 40,458,596(+) aaata(C/T)aaatt intron-variant
rs10431513 -- 40,467,752(+) CCTGC(A/G)TAGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MUC19 Gene

Variant ID Type Subtype PubMed ID
dgv1491n100 CNV loss 25217958
dgv2576n54 CNV loss 21841781
dgv2577n54 CNV loss 21841781
dgv2578n54 CNV loss 21841781
dgv2579n54 CNV loss 21841781
dgv2580n54 CNV gain 21841781
dgv2581n54 CNV loss 21841781
dgv2582n54 CNV loss 21841781
nsv958704 CNV deletion 24416366
nsv957427 CNV deletion 24416366
nsv952173 CNV duplication 24416366
nsv8970 CNV gain 18304495
nsv8969 CNV gain 18304495
nsv832378 CNV gain 17160897
nsv832377 CNV gain 17160897
nsv826344 CNV loss 20364138
nsv821471 CNV duplication 20802225
nsv818914 CNV loss 17921354
nsv81 CNV insertion 15895083
nsv683 CNV deletion 18451855
nsv682 CNV insertion 18451855
nsv558693 CNV loss 21841781
nsv558687 CNV loss 21841781
nsv558686 CNV gain 21841781
nsv558683 CNV gain+loss 21841781
nsv558616 CNV loss 21841781
nsv558615 CNV gain 21841781
nsv558614 CNV gain+loss 21841781
nsv558612 CNV gain 21841781
nsv558607 CNV gain 21841781
nsv558606 CNV loss 21841781
nsv558605 CNV loss 21841781
nsv558604 CNV loss 21841781
nsv558603 CNV loss 21841781
nsv558599 CNV loss 21841781
nsv558598 CNV loss 21841781
nsv53241 CNV deletion 16902084
nsv52989 CNV deletion 16902084
nsv526848 CNV gain 19592680
nsv522066 CNV loss 19592680
nsv518952 CNV gain 19592680
nsv516022 CNV gain+loss 19592680
nsv515583 CNV loss 19592680
nsv514670 CNV loss 21397061
nsv513748 CNV insertion 21212237
nsv512268 CNV loss 21212237
nsv511492 CNV loss 21212237
nsv509465 CNV insertion 20534489
nsv479077 CNV novel sequence insertion 20440878
nsv479005 CNV novel sequence insertion 20440878
nsv470287 CNV loss 18288195
nsv442646 CNV loss 18776908
nsv438207 CNV loss 16468122
nsv438206 CNV loss 16468122
nsv1153879 CNV duplication 26484159
nsv1147205 CNV duplication 26484159
nsv1139645 CNV deletion 24896259
nsv1138125 CNV deletion 24896259
nsv1134217 CNV deletion 24896259
nsv1128665 CNV duplication 24896259
nsv1127263 CNV deletion 24896259
nsv1116695 CNV tandem duplication 24896259
nsv1115431 CNV duplication 24896259
nsv1078337 CNV duplication 25765185
nsv1071025 CNV deletion 25765185
nsv1069660 CNV deletion 25765185
nsv1069659 CNV deletion 25765185
nsv1069658 CNV deletion 25765185
nsv1048258 CNV gain 25217958
nsv1047639 CNV loss 25217958
nsv1039272 CNV loss 25217958
esv996769 CNV deletion 20482838
esv996068 CNV deletion 20482838
esv987871 CNV insertion 20482838
esv9458 CNV loss 19470904
esv9377 CNV loss 19470904
esv9331 CNV loss 19470904
esv3892191 CNV loss 25118596
esv3892190 CNV loss 25118596
esv3629292 CNV gain 21293372
esv3629291 CNV loss 21293372
esv3629290 CNV loss 21293372
esv3549095 CNV deletion 23714750
esv3549093 CNV deletion 23714750
esv3418616 CNV duplication 20981092
esv3417437 CNV duplication 20981092
esv3417084 CNV duplication 20981092
esv3390786 CNV duplication 20981092
esv3377041 CNV duplication 20981092
esv3351748 CNV duplication 20981092
esv2762975 CNV loss 21179565
esv2745800 CNV deletion 23290073
esv2745799 CNV deletion 23290073
esv2745798 CNV deletion 23290073
esv2745797 CNV deletion 23290073
esv2745795 CNV deletion 23290073
esv2745794 CNV deletion 23290073
esv2745793 CNV deletion 23290073
esv2745792 CNV deletion 23290073
esv2745791 CNV deletion 23290073
esv2745790 CNV deletion 23290073
esv2745789 CNV deletion 23290073
esv2745788 CNV deletion 23290073
esv2676515 CNV deletion 23128226
esv25845 CNV gain+loss 19812545
esv2537704 CNV deletion 19546169
esv2476758 CNV deletion 19546169
esv2427709 CNV loss 19546169
esv2421846 CNV deletion 20811451
esv21932 CNV loss 19812545
esv2048308 CNV deletion 18987734
esv1978981 CNV deletion 18987734
esv1007128 CNV deletion 20482838
dgv9e194 CNV deletion 18987734
dgv806n106 CNV deletion 24896259
dgv69e55 CNV loss 17911159
dgv38n17 CNV loss 16327808
dgv37n17 CNV loss 16327808
dgv286n67 CNV loss 20364138
dgv283e199 CNV deletion 23128226
dgv2594n54 CNV gain 21841781
dgv2593n54 CNV loss 21841781
dgv2592n54 CNV loss 21841781
dgv2591n54 CNV loss 21841781
dgv2590n54 CNV gain 21841781
dgv2589n54 CNV loss 21841781
dgv2588n54 CNV loss 21841781
dgv2587n54 CNV loss 21841781
dgv2586n54 CNV loss 21841781
dgv2585n54 CNV gain 21841781
dgv2584n54 CNV loss 21841781
dgv2583n54 CNV loss 21841781

Variation tolerance for MUC19 Gene

Gene Damage Index Score: 39.90; 99.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MUC19 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MUC19

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MUC19 Gene

Disorders for MUC19 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MUC19 Gene - From: GeneCards

Disorder Aliases PubMed IDs
sjogren's syndrome
  • sicca syndrome
- elite association - COSMIC cancer census association via MalaCards
Search MUC19 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MUC19

Genetic Association Database (GAD)
MUC19
Human Genome Epidemiology (HuGE) Navigator
MUC19
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MUC19
genes like me logo Genes that share disorders with MUC19: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MUC19 Gene

Publications for MUC19 Gene

  1. Genome-wide search and identification of a novel gel-forming mucin MUC19/Muc19 in glandular tissues. (PMID: 12882755) Chen Y. … Wu R. (Am. J. Respir. Cell Mol. Biol. 2004) 2 3 4 64
  2. Cloning and Characterization of Human MUC19 Gene. (PMID: 21075863) Zhu L. … Chen Y. (Am. J. Respir. Cell Mol. Biol. 2011) 3 4 64
  3. Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship. (PMID: 19068216) Anderson C.A. … Parkes M. (Gastroenterology 2009) 3 46 64
  4. MUC19 expression in human ocular surface and lacrimal gland and its alteration in Sjogren syndrome patients. (PMID: 18184611) Yu D.F. … Liu Z.G. (Exp. Eye Res. 2008) 3 4 64
  5. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. (PMID: 18587394) Barrett J.C. … Daly M.J. (Nat. Genet. 2008) 3 46 64

Products for MUC19 Gene

Sources for MUC19 Gene

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