Gene: HAVCR1

Alternate names for this Gene: CD365|HAVCR|HAVCR-1|KIM-1|KIM1|TIM|TIM-1|TIM1|TIMD-1|TIMD1

Gene Summary: The protein encoded by this gene is a membrane receptor for both human hepatitis A virus (HHAV) and TIMD4. The encoded protein may be involved in the moderation of asthma and allergic diseases. The reference genome represents an allele that retains a MTTVP amino acid segment that confers protection against atopy in HHAV seropositive individuals. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 12 and 19.

Gene is located in Chromosome: 5

Location in Chromosome : 5q33.3

Description of this Gene: hepatitis A virus cellular receptor 1

Type of Gene: protein-coding

rs10066168 in HAVCR1 gene and Alcohol consumption PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

rs6878069 in HAVCR1 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs10038271 in HAVCR1 gene and Common Variable Immunodeficiency PMID 21497890 2011 Genome-wide association identifies diverse causes of common variable immunodeficiency.

rs10066168 in HAVCR1 gene and Low density lipoprotein cholesterol measurement PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.

PMID 29593015 2018 An APOO Pseudogene on Chromosome 5q Is Associated With Low-Density Lipoprotein Cholesterol Levels.

rs1553318 in HAVCR1 gene and Serum total cholesterol measurement PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs1553318 in HAVCR1 gene and Triglycerides measurement PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.