Entity Details

Primary name PAX7
Entity type gene
Source Source Link

Details

PrimaryID5081
RefseqGeneNG_023262
SymbolPAX7
Namepaired box 7
Chromosome1
Location1p36.13
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-05-07
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPAX7_HUMAN

GO terms

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GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007517 muscle organ development
GO:0009653 anatomical structure morphogenesis
GO:0043066 negative regulation of apoptotic process
GO:0048856 anatomical structure development
GO:1990837 sequence-specific double-stranded DNA binding

Diseases

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Disease IDSourceNameDescription
618578 OMIMMyopathy, congenital, progressive, with scoliosis (MYOSCO)An autosomal recessive muscular disorder characterized by infantile onset of progressive muscular atrophy, hypotonia, ptosis, scoliosis and dysmorphic facial features. Disease severity is variable, ranging from mild to severe. The disease is caused by variants affecting the gene represented in this entry.
268220 OMIMRhabdomyosarcoma 2 (RMS2)A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas. The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving PAX7 is found in rhabdomyosarcoma. Translocation t(1;13)(p36;q14) with FOXO1. The resulting protein is a transcriptional activator.