MUC19 (12q12) okulaarinen? musiini-19 Mikä musiini! 9394 a.a. prim. sekvenssissä.

https://www.ncbi.nlm.nih.gov/gene/283463

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: partial on reference assembly

Expression

Low expression observed in reference dataset See more

Preferred Names   mucin-19

Mikä musiini silmää varten luotu!   8384 aminohappoa primäärisekvenssissä!

 

Conserved Domains (7) summary

smart00041
Location:8295 → 8376

CT; C-terminal cystine knot-like domain (CTCK)

smart00214
Location:8161 → 8221

VWC; von Willebrand factor (vWF) type C domain

smart00216
Location:1265 → 1425

VWD; von Willebrand factor (vWF) type D domain

COG3210
Location:5235 → 6216

FhaB; Large exoprotein involved in heme utilization or adhesion [Intracellular trafficking, secretion, and vesicular transport]

pfam01826
Location:721 → 776

TIL; Trypsin Inhibitor like cysteine rich domain

pfam08742
Location:1003 → 1073

C8; C8 domain

cl17735
Location:1238 → 1273

VWC; von Willebrand factor type C domain

1. [Association of Polymorphic Variants of Gene MUC19 with Asthma in Russians According to the Results of a Genome-Wide Study]. Karunas AS, et al. Genetika, 2015 Nov. PMID 26845862
2. Genome-wide association study signal at the 12q12 locus for Crohn's disease may represent associations with the MUC19 gene. Kumar V, et al. Inflamm Bowel Dis, 2013 May. PMID 23619718
3. Cloning and characterization of human MUC19 gene. Zhu L, et al. Am J Respir Cell Mol Biol, 2011 Aug. PMID 21075863, Free PMC Article
4. Mucin gene 19 (MUC19) expression and response to inflammatory cytokines in middle ear epithelium. Kerschner JE, et al. Glycoconj J, 2009 Dec. PMID 19533339, Free PMC Article
5. Proteomic analysis of polymeric salivary mucins: no evidence for MUC19 in human saliva. Rousseau K, et al. Biochem J, 2008 Aug 1. PMID 18426393

 Generif

1. esults indicate the important role of polymorphic variants of gene MUC19 in the formation of a predisposition to the development of asthma in individuals of Russian ethnicity.
2. data find MUC19 transcripts in salivary glands of seven subjects and demonstrate MUC19 glycoproteins in glandular mucous cells and saliva.
3. Single-nucleotide polymorphism in the MUC19 gene is associated with Crohn's disease .
4. Presence of MUC 19 is suggestive of mucoepidermoid carcinoma
5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
6. Germline variation of the MUC19 gene is not attributable to the genomewide significant association of the 12q12 locus with Crohn Disease.
7. MUC19 has significant potential to play a role in both physiology and pathophysiology of the middle ear.
8. Observational study of gene-disease association. (HuGE Navigator)
9. Reflux laryngitis is associated with down-regulation of mucin gene expression.
10. Results suggest that MUC19 is not a major component in human saliva.