MUC22 (6p21.33) , PBMUCL1 , panbronkioliittiin korreloiva musiinin kaltainen proteiini 1

https://www.ncbi.nlm.nih.gov/gene/100507679 

Also known as

PBMUCL1

Expression

Restricted expression toward esophagus (RPKM 9.7) See more

Preferred Names

mucin-22

Names

panbronchiolitis-related mucin-like protein 1

Related articles in PubMed

1. Polymorphisms of TGFB1, TLE4 and MUC22 are associated with childhood asthma in Chinese population. Chen JB, et al. Allergol Immunopathol (Madr), 2017 Sep - Oct. PMID 28262390
2. Molecular cloning of two novel mucin-like genes in the disease-susceptibility locus for diffuse panbronchiolitis. Hijikata M, et al. Hum Genet, 2011 Feb. PMID 20981447Abstract
   Diffuse panbronchiolitis (DPB) is a rare complex genetic disease affecting East Asians and is strongly associated with the class I human leukocyte antigens (HLA)-B54 in Japanese and HLA-A11 in Koreans. We recently showed that an HLA-associated major susceptibility gene for DPB is probably located within the 200 kb in the class I region 300 kb telomeric of the HLA-B locus on the chromosome 6p21.3. We cloned two novel mucin-like genes designated panbronchiolitis related mucin-like 1 and 2 (PBMUCL1 and PBMUCL2) in the candidate region, which form a mucin-like gene cluster together with two adjacent genes, MUC21 and DPCR1. PBMUCL1 gene expression was remarkably upregulated by polyinosine-polycytidylic acid [poly(I:C)] stimulation in normal human bronchial epithelial cells redifferentiated at the air-liquid interface. We found genetic polymorphisms in PBMUCL1 gene which were associated with DPB: the A-allele of the PBMUCL1 intron 2 single nucleotide polymorphism (SNP) was positively associated and variable numbers of tandem repeats (VNTR) polymorphism in exon 3 (1,890-base pair deletion) was negatively associated. Despite a strong association with HLA-B in the Japanese, the mucin-like gene PBMUCL1 is also one of the candidate genes of DPB susceptibility.
3. Identification of independent risk loci for Graves' disease within the MHC in the Japanese population. Nakabayashi K, et al. J Hum Genet, 2011 Nov. PMID 21900946
4. Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort. Zhao L, et al. Ann Hum Genet, 2013 Jul. PMID 23551011, Free PMC Article
5. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. Barcellos LF, et al. PLoS Genet, 2009 Oct. PMID 19851445, Free PMC Article

https://www.ncbi.nlm.nih.gov/protein/AQY77312.1