Gene: PAX8

Alternate names for this Gene: -

Gene Summary: This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been described.

Gene is located in Chromosome: 2

Location in Chromosome : 2q14.1

Description of this Gene: paired box 8

Type of Gene: protein-coding

Gene: PAX8-AS1

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 2

Location in Chromosome : 2q14.1

Description of this Gene: PAX8 antisense RNA 1

Type of Gene: ncRNA

rs11123170 in PAX8;PAX8-AS1 gene and Blood urea nitrogen measurement PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

PMID 22797727 2012 Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs58231626 in PAX8;PAX8-AS1 gene and Body Weight PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs58231626 in PAX8;PAX8-AS1 gene and Body mass index PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs104893658 in PAX8;PAX8-AS1 gene and HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS PMID 9590296 1998 PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis.

PMID 11232006 2001 Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8.

PMID 11502839 2001 A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child.