PAX4 paired box 4
Gene ID: 5078, updated on 11-Jan-2025Gene type: protein coding
Also known as: KPD; MODY9
- See all available tests in GTR for this gene
- Go to complete Gene record for PAX4
- Go to Variation Viewer for PAX4 variants
Summary
This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Diabetes mellitus, ketosis-prone | See labs |
| Genome-wide association study in a Chinese population identifies a susceptibility locus for type 2 diabetes at 7q32 near PAX4. GeneReviews: Not available | |
| Maturity-onset diabetes of the young type 9 | See labs |
| Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. GeneReviews: Not available | |
| Type II diabetes mellitus | See labs |
Genomic context
- Location:
- 7q32.1
- Sequence:
- Chromosome: 7; NC_000007.14 (127610292..127618142, complement)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PAX4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PAX4 database
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.