PAX7 (paired box 7)

2003-02-01  

Identity

HGNC
LOCATION
1p36.13
LOCUSID
ALIAS
HUP1,MYOSCO,PAX7B,RMS2
FUSION GENES

Other Information

Locus ID:

NCBI: 5081
MIM: 167410
HGNC: 8621
Ensembl: ENSG00000009709

Variants:

dbSNP: 5081
ClinVar: 5081
TCGA: ENSG00000009709
COSMIC: PAX7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000009709ENST00000375375P23759
ENSG00000009709ENST00000400661P23759
ENSG00000009709ENST00000420770P23759

Expression (GTEx)

0
1
2

Pathways

PathwaySourceExternal ID
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202

References

Pubmed IDYearTitleCitations
120399292002PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children's oncology group.149
240847402013NF-κB-mediated Pax7 dysregulation in the muscle microenvironment promotes cancer cachexia.125
203513262010Fusion gene-negative alveolar rhabdomyosarcoma is clinically and molecularly indistinguishable from embryonal rhabdomyosarcoma.114
235121052013Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study.39
128659252003PAX7 expression in embryonal rhabdomyosarcoma suggests an origin in muscle satellite cells.33
219541372011Analysis of Pax7 expressing myogenic cells in zebrafish muscle development, injury, and models of disease.31
151849102004Inducible short-term and stable long-term cell culture systems reveal that the PAX3-FKHR fusion oncoprotein regulates CXCR4, PAX3, and PAX7 expression.26
234634642013Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of nonsyndromic CL(P).22
187888872009ALK expression in rhabdomyosarcomas: correlation with histologic subtype and fusion status.21
194532612009High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.20

Citation

Dessen P

PAX7 (paired box 7)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/68/pax7