PAX7 paired box 7
Gene ID: 5081, updated on 5-Mar-2024Gene type: protein coding
Also known as: HUP1; RMS2; PAX7B; CMYP19; MYOSCO
- See all available tests in GTR for this gene
- Go to complete Gene record for PAX7
- Go to Variation Viewer for PAX7 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 specific function of the paired box 7 gene is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Alveolar rhabdomyosarcoma | See labs |
| Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. GeneReviews: Not available | |
| Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). GeneReviews: Not available | |
| Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. GeneReviews: Not available | |
| Myopathy, congenital, progressive, with scoliosis | See labs |
Genomic context
- Location:
- 1p36.13
- Sequence:
- Chromosome: 1; NC_000001.11 (18630846..18748866)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PAX7 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
- PAX7 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.