Gene: TRIM59-IFT80

Alternate names for this Gene: IFT80-L

Gene Summary: This locus represents naturally occurring readthrough transcription between the neighboring TRIM59 (tripartite motif containing 59) and IFT80 (intraflagellar transport 80) genes on chromosome 3. The readthrough transcript is unlikely to produce a protein product.

Gene is located in Chromosome: 3

Location in Chromosome : 3q25.33

Description of this Gene: TRIM59-IFT80 protein

Type of Gene: ncRNA

Gene: IFT80

Alternate names for this Gene: ATD2|FAP167|SRTD2|WDR56

Gene Summary: The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.

Gene is located in Chromosome: 3

Location in Chromosome : 3q25.33

Description of this Gene: intraflagellar transport 80

Type of Gene: protein-coding

rs138081429 in TRIM59-IFT80;IFT80 gene and Asphyxiating Thoracic Dystrophy 2 PMID 19610081 2009 Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients.

PMID 17468754 2007 IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.

rs10513551 in TRIM59-IFT80;IFT80 gene and Low density lipoprotein cholesterol measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs145925847 in TRIM59-IFT80;IFT80 gene and Oral Ulcer PMID 30837455 2019 Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci.