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

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

rs13405033 in PAX8-AS1;PAX8 gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs2863244 in PAX8-AS1;PAX8 gene and Duration of sleep PMID 30804565 2019 Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways.

rs104893656 in PAX8-AS1;PAX8 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.

rs2019137 in PAX8-AS1;PAX8 gene and Lymphocyte Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs72831838 in PAX8-AS1;PAX8 gene and Ovarian Mucinous Adenocarcinoma PMID 26075790 2015 Genome-wide significant risk associations for mucinous ovarian carcinoma.

rs6707386 in PAX8-AS1;PAX8 gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.