LongevityMap Gene
Gene details
- HGNC symbol
- BTBD9
- Aliases
- dJ322I12.1
- Common name
- BTB domain containing 9
- Description
- This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]
- Cytogenetic Location
- 6p21.2
- UCSC Genome Browser
- View 6p21.2 on the UCSC genome browser
- OMIM
- 611237
- Ensembl
- ENSG00000183826
- UniProt/Swiss-Prot
- BTBD9_HUMAN
- Entrez Gene
- 114781
- UniGene
- 603858
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- hpo-9
- Danio rerio
- btbd9
- Drosophila melanogaster
- BTBD9
- Mus musculus
- Btbd9
- Rattus norvegicus
- Btbd9
Studies (1)
Significant/Non-significant: 1/0
- Longevity Association
- Significant
- Population
- American (Caucasian)
- Study Design
- Genome-wide association study using 1,471 genotyped participants from the Framingham Heart Study, of which 1,173 individuals had known lifespans, plus 517 individuals from the Offspring cohort for validating connections between longevity and genetic variants
- Conclusions
- A total of 27 SNPs, including in CDH4, SVEP1, CACNA1C, CARS, STK24, C7orf50, PARVG, NCAM2, PPP2R2C, NLRC5, BTBD9, RAC2, TGFA, KIAA0649, ABCC4, CLSTN2, FAM19A5 and RUNX3, were identified at the intersection of various statistical procedures
- Indentifier
- rs3800358
- Reference