Gene: SERPINH1

Alternate names for this Gene: AsTP3|CBP1|CBP2|HSP47|OI10|PIG14|PPROM|RA-A47|SERPINH2|gp46

Gene Summary: This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.5

Description of this Gene: serpin family H member 1

Type of Gene: protein-coding

rs606452 in SERPINH1 gene and Body Height PMID 25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.

PMID 25282103 2014 Defining the role of common variation in the genomic and biological architecture of adult human height.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 22021425 2012 Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

PMID 28270201 2017 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs590121 in SERPINH1 gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

rs606452 in SERPINH1 gene and Height PMID 22021425 2012 Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs137853892 in SERPINH1 gene and OSTEOGENESIS IMPERFECTA, TYPE X PMID 20188343 2010 Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.

rs606452 in SERPINH1 gene and Physical Activity Measurement PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.