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MUC19 mucin 19, oligomeric [ Homo sapiens (human) ]

Gene ID: 283463, updated on 22-Jan-2023

Summary

Official Symbol
MUC19provided by HGNC
Official Full Name
mucin 19, oligomericprovided by HGNC
Primary source
HGNC:HGNC:14362
See related
Ensembl:ENSG00000205592 MIM:612170; AllianceGenome:HGNC:14362
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MUC-19
Summary
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]
Annotation information
Annotation category: suggests misassembly
Annotation category: partial on reference assembly
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See MUC19 in Genome Data Viewer
Location:
12q12
Exon count:
171
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (40393394..40570757)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (40345593..40530490)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (40787196..40964559)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369735 Neighboring gene leucine rich repeat kinase 2 Neighboring gene uncharacterized LOC105369736 Neighboring gene microtubule associated protein 6 pseudogene Neighboring gene RNA, U6 small nuclear 713, pseudogene Neighboring gene methionyl aminopeptidase 1 pseudogene Neighboring gene contactin 1 Neighboring gene uncharacterized LOC124903069

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
EBI GWAS Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
EBI GWAS Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ35746

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in Golgi lumen TAS
Traceable Author Statement
more info
 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_173600.2NP_775871.2  mucin-19 precursor

    See identical proteins and their annotated locations for NP_775871.2

    Status: VALIDATED

    Source sequence(s)
    HM801842
    UniProtKB/Swiss-Prot
    Q7Z5P9, Q8NA85
    Related
    ENSP00000508949.1, ENST00000454784.10
    Conserved Domains (7) summary
    smart00041
    Location:82958376
    CT; C-terminal cystine knot-like domain (CTCK)
    smart00214
    Location:81618221
    VWC; von Willebrand factor (vWF) type C domain
    smart00216
    Location:12651425
    VWD; von Willebrand factor (vWF) type D domain
    COG3210
    Location:52356216
    FhaB; Large exoprotein involved in heme utilization or adhesion [Intracellular trafficking, secretion, and vesicular transport]
    pfam01826
    Location:721776
    TIL; Trypsin Inhibitor like cysteine rich domain
    pfam08742
    Location:10031073
    C8; C8 domain
    cl17735
    Location:12381273
    VWC; von Willebrand factor type C domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    40393394..40570757
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    40345593..40530490
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)