PAX8 Chromosome 2
Paired box 8
Upload your DNA to see your personal genotypes for variants in PAX8.
What This Gene Does
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. [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
"PRD class homeoboxes and pseudogenes|Paired boxes"
Locus Type
gene with protein product
Location
2q14.1
Ensembl
ENSG00000125618
Associated Conditions (8)
Hypothyroidism
congenital
nongoitrous
2
PAX8-related disorder
Inborn genetic diseases
Intellectual disability
Congenital hypothyroidism
Key Variants
RS111481416
Conflicting classifications of pathogenicity
Hypothyroidism, congenital, nongoitrous
Health Risk
RS112872760
Conflicting classifications of pathogenicity
Hypothyroidism, congenital, nongoitrous
Health Risk
RS149585280
Conflicting classifications of pathogenicity
Hypothyroidism, congenital, nongoitrous
Health Risk
RS189067014
Conflicting classifications of pathogenicity
Hypothyroidism, congenital, nongoitrous
Health Risk
RS189229644
Conflicting classifications of pathogenicity
Hypothyroidism, congenital, nongoitrous
Health Risk
RS190681011
Conflicting classifications of pathogenicity
Hypothyroidism, congenital, nongoitrous
Health Risk
RS199820445
Conflicting classifications of pathogenicity
Hypothyroidism, congenital, nongoitrous
Health Risk
RS199939219
Conflicting classifications of pathogenicity
Hypothyroidism, congenital, nongoitrous
Health Risk
RS200737496
Conflicting classifications of pathogenicity
Hypothyroidism, congenital, nongoitrous
Health Risk
RS374652916
Conflicting classifications of pathogenicity
Hypothyroidism, congenital, nongoitrous
Health Risk
RS377351599
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hypothyroidism, congenital
Health Risk
RS377714129
Conflicting classifications of pathogenicity
Hypothyroidism, congenital, nongoitrous
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111481416 | Health Risk | Conflicting classifications of pathogenicity | Hypothyroidism, congenital, nongoitrous |
| RS112872760 | Health Risk | Conflicting classifications of pathogenicity | Hypothyroidism, congenital, nongoitrous |
| RS149585280 | Health Risk | Conflicting classifications of pathogenicity | Hypothyroidism, congenital, nongoitrous |
| RS189067014 | Health Risk | Conflicting classifications of pathogenicity | Hypothyroidism, congenital, nongoitrous |
| RS189229644 | Health Risk | Conflicting classifications of pathogenicity | Hypothyroidism, congenital, nongoitrous |
| RS190681011 | Health Risk | Conflicting classifications of pathogenicity | Hypothyroidism, congenital, nongoitrous |
| RS199820445 | Health Risk | Conflicting classifications of pathogenicity | Hypothyroidism, congenital, nongoitrous |
| RS199939219 | Health Risk | Conflicting classifications of pathogenicity | Hypothyroidism, congenital, nongoitrous |
| RS200737496 | Health Risk | Conflicting classifications of pathogenicity | Hypothyroidism, congenital, nongoitrous |
| RS374652916 | Health Risk | Conflicting classifications of pathogenicity | Hypothyroidism, congenital, nongoitrous |
| RS377351599 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hypothyroidism, congenital |
| RS377714129 | Health Risk | Conflicting classifications of pathogenicity | Hypothyroidism, congenital, nongoitrous |
| RS552812059 | Health Risk | Conflicting classifications of pathogenicity | Hypothyroidism, congenital, nongoitrous |
| RS61730086 | Health Risk | Conflicting classifications of pathogenicity | Hypothyroidism, congenital, nongoitrous |
| RS75444177 | Health Risk | Conflicting classifications of pathogenicity | Hypothyroidism, congenital, nongoitrous |
| RS764623767 | Health Risk | Conflicting classifications of pathogenicity | Hypothyroidism, congenital, nongoitrous |
| RS76792774 | Health Risk | Conflicting classifications of pathogenicity | Hypothyroidism, congenital, nongoitrous |
| RS866836744 | Health Risk | Conflicting classifications of pathogenicity | Hypothyroidism, congenital, nongoitrous |
| RS104893660 | Health Risk | Likely pathogenic | Hypothyroidism, congenital, nongoitrous |
| RS1690856985 | Health Risk | Likely pathogenic | — |
| RS1691154033 | Health Risk | Likely pathogenic | Hypothyroidism, congenital, nongoitrous |
| RS2104498488 | Health Risk | Likely pathogenic | Hypothyroidism, congenital, nongoitrous |
| RS781575903 | Health Risk | Likely pathogenic | — |
| RS104893655 | Health Risk | Pathogenic | Hypothyroidism, congenital, nongoitrous |
| RS104893656 | Health Risk | Pathogenic | Hypothyroidism, congenital, nongoitrous |
| RS104893657 | Health Risk | Pathogenic | Hypothyroidism, congenital, nongoitrous |
| RS104893658 | Health Risk | Pathogenic | Hypothyroidism, congenital, nongoitrous |
| RS104893659 | Health Risk | Pathogenic | Hypothyroidism, congenital, nongoitrous |
| RS121917719 | Health Risk | Pathogenic | Hypothyroidism, congenital, nongoitrous |
| RS1690853952 | Health Risk | Pathogenic | Congenital hypothyroidism, Congenital hypothyroidism |
| RS1690965885 | Health Risk | Pathogenic | Hypothyroidism, congenital, nongoitrous |
| RS1690970101 | Health Risk | Pathogenic | Congenital hypothyroidism, Congenital hypothyroidism |
| RS1691361089 | Health Risk | Pathogenic | Congenital hypothyroidism, Congenital hypothyroidism |
| RS761612832 | Health Risk | Pathogenic/Likely pathogenic | Hypothyroidism, congenital, nongoitrous |