Gene: SMG6

Alternate names for this Gene: C17orf31|EST1A|SMG-6|hSMG5/7a

Gene Summary: This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD) pathway, providing the endonuclease activity near the premature translation termination codon that is needed to initiate NMD. Alternatively spliced transcript variants encoding distinct protein isoforms have been described.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.3

Description of this Gene: SMG6 nonsense mediated mRNA decay factor

Type of Gene: protein-coding

Gene: HIC1

Alternate names for this Gene: ZBTB29|ZNF901|hic-1

Gene Summary: This gene functions as a growth regulatory and tumor repressor gene. Hypermethylation or deletion of the region of this gene have been associated with tumors and the contiguous-gene syndrome, Miller-Dieker syndrome. Alternative splicing of this gene results in multiple transcript variants.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.3

Description of this Gene: HIC ZBTB transcriptional repressor 1

Type of Gene: protein-coding

rs1048483 in SMG6;HIC1 gene and Venous Thromboembolism PMID 31420334 2019 Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.

rs3803809 in SMG6;HIC1 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.