Gene: HEATR3

Alternate names for this Gene: SYO1

Gene Summary: The protein encoded by this gene plays a role in ribosomal protein transport and in the assembly of the 5S ribonucleoprotein particle (5S RNP). The encoded protein also may be involved in NOD2-mediated NF-kappaB signaling.

Gene is located in Chromosome: 16

Location in Chromosome : 16q12.1

Description of this Gene: HEAT repeat containing 3

Type of Gene: protein-coding

rs10852606 in HEATR3 gene and Central Nervous System Neoplasms PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

rs4785204 in HEATR3 gene and Esophageal Neoplasms PMID 22960999 2012 Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.

rs10852606 in HEATR3 gene and Glioblastoma PMID 28346443 2017 We identified five new loci for glioblastoma (GBM) at 1p31.3 (rs12752552; P = 2.04 × 10<sup>-9</sup>, odds ratio (OR) = 1.22), 11q14.1 (rs11233250; P = 9.95 × 10<sup>-10</sup>, OR = 1.24), 16p13.3 (rs2562152; P = 1.93 × 10<sup>-8</sup>, OR = 1.21), 16q12.1 (rs10852606; P = 1.29 × 10<sup>-11</sup>, OR = 1.18) and 22q13.1 (rs2235573; P = 1.76 × 10<sup>-10</sup>, OR = 1.15), as well as eight loci for non-GBM tumors at 1q32.1 (rs4252707; P = 3.34 × 10<sup>-9</sup>, OR = 1.19), 1q44 (rs12076373; P = 2.63 × 10<sup>-10</sup>, OR = 1.23), 2q33.3 (rs7572263; P = 2.18 × 10<sup>-10</sup>, OR = 1.20), 3p14.1 (rs11706832; P = 7.66 × 10<sup>-9</sup>, OR = 1.15), 10q24.33 (rs11598018; P = 3.39 × 10<sup>-8</sup>, OR = 1.14), 11q21 (rs7107785; P = 3.87 × 10<sup>-10</sup>, OR = 1.16), 14q12 (rs10131032; P = 5.07 × 10<sup>-11</sup>, OR = 1.33) and 16p13.3 (rs3751667; P = 2.61 × 10<sup>-9</sup>, OR = 1.18).

rs10852606 in HEATR3 gene and Glioblastoma Multiforme PMID 28346443 2017 We identified five new loci for glioblastoma (GBM) at 1p31.3 (rs12752552; P = 2.04 × 10<sup>-9</sup>, odds ratio (OR) = 1.22), 11q14.1 (rs11233250; P = 9.95 × 10<sup>-10</sup>, OR = 1.24), 16p13.3 (rs2562152; P = 1.93 × 10<sup>-8</sup>, OR = 1.21), 16q12.1 (rs10852606; P = 1.29 × 10<sup>-11</sup>, OR = 1.18) and 22q13.1 (rs2235573; P = 1.76 × 10<sup>-10</sup>, OR = 1.15), as well as eight loci for non-GBM tumors at 1q32.1 (rs4252707; P = 3.34 × 10<sup>-9</sup>, OR = 1.19), 1q44 (rs12076373; P = 2.63 × 10<sup>-10</sup>, OR = 1.23), 2q33.3 (rs7572263; P = 2.18 × 10<sup>-10</sup>, OR = 1.20), 3p14.1 (rs11706832; P = 7.66 × 10<sup>-9</sup>, OR = 1.15), 10q24.33 (rs11598018; P = 3.39 × 10<sup>-8</sup>, OR = 1.14), 11q21 (rs7107785; P = 3.87 × 10<sup>-10</sup>, OR = 1.16), 14q12 (rs10131032; P = 5.07 × 10<sup>-11</sup>, OR = 1.33) and 16p13.3 (rs3751667; P = 2.61 × 10<sup>-9</sup>, OR = 1.18).

rs10852606 in HEATR3 gene and Glioma PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

rs2287197 in HEATR3 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs2287197 in HEATR3 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs4785204 in HEATR3 gene and Squamous cell carcinoma PMID 22960999 2012 Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.