Gene: ITIH4

Alternate names for this Gene: GP120|H4P|IHRP|ITI-HC4|ITIHL1|PK-120|PK120

Gene Summary: The protein encoded by this gene is secreted into the blood, where it is cleaved by plasma kallikrein into two smaller forms. Expression of this gene has been detected only in liver, and it seems to be upregulated during surgical trauma. This gene is part of a cluster of similar genes on chromosome 3. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.1

Description of this Gene: inter-alpha-trypsin inhibitor heavy chain 4

Type of Gene: protein-coding

rs2239547 in ITIH4 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

PMID 31320639 2019 Genome and epigenome wide studies of neurological protein biomarkers in the Lothian Birth Cohort 1936.

rs2256332 in ITIH4 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2240917 in ITIH4 gene and Depressed bipolar I disorder PMID 31043756 2019 Genome-wide association study identifies 30 loci associated with bipolar disorder.

rs35004449 in ITIH4 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs35004449 in ITIH4 gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs2239547 in ITIH4 gene and Schizophrenia PMID 21926974 2011 Genome-wide association study identifies five new schizophrenia loci.

rs143427404 in ITIH4 gene and Smoking PMID 30643258 2019 Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.