PAX7 (paired box 7)

Gene

• Entrez ID: 5081
• Gene name: Paired box 7
• Gene symbol: PAX7
• Synonyms: CMYO19, CMYP19, HUP1, MYOSCO, PAX7B, RMS2
• Chromosome: 1
• Chromosome location: 1p36.13
• 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 c

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs752326328	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs1176071790	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1392068839	C>T	Pathogenic	Coding sequence variant, missense variant
rs1570098248	G>A	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023463	hsa-miR-27b-3p	Western blot;Other	19666532
MIRT526977	hsa-miR-4475	PAR-CLIP	22012620
MIRT526976	hsa-miR-4797-5p	PAR-CLIP	22012620
MIRT526975	hsa-miR-5007-5p	PAR-CLIP	22012620
MIRT526974	hsa-miR-7845-5p	PAR-CLIP	22012620
MIRT526973	hsa-miR-4778-3p	PAR-CLIP	22012620
MIRT526972	hsa-miR-924	PAR-CLIP	22012620
MIRT526971	hsa-miR-6740-3p	PAR-CLIP	22012620
MIRT526970	hsa-miR-4646-3p	PAR-CLIP	22012620
MIRT526969	hsa-miR-2355-3p	PAR-CLIP	22012620
MIRT526968	hsa-miR-129-5p	PAR-CLIP	22012620
MIRT526977	hsa-miR-4475	PAR-CLIP	22012620
MIRT526976	hsa-miR-4797-5p	PAR-CLIP	22012620
MIRT526975	hsa-miR-5007-5p	PAR-CLIP	22012620
MIRT526974	hsa-miR-7845-5p	PAR-CLIP	22012620
MIRT526973	hsa-miR-4778-3p	PAR-CLIP	22012620
MIRT526972	hsa-miR-924	PAR-CLIP	22012620
MIRT526971	hsa-miR-6740-3p	PAR-CLIP	22012620
MIRT526970	hsa-miR-4646-3p	PAR-CLIP	22012620
MIRT526969	hsa-miR-2355-3p	PAR-CLIP	22012620
MIRT526968	hsa-miR-129-5p	PAR-CLIP	22012620
MIRT526968	hsa-miR-129-5p	Western blotting, qRT-PCR	37294527
MIRT1215389	hsa-miR-106a	CLIP-seq
MIRT1215390	hsa-miR-106b	CLIP-seq
MIRT1215391	hsa-miR-1193	CLIP-seq
MIRT1215392	hsa-miR-122	CLIP-seq
MIRT1215393	hsa-miR-1225-3p	CLIP-seq
MIRT1215394	hsa-miR-1233	CLIP-seq
MIRT1215395	hsa-miR-1237	CLIP-seq
MIRT1215396	hsa-miR-1248	CLIP-seq
MIRT1215397	hsa-miR-1262	CLIP-seq
MIRT1215398	hsa-miR-1285	CLIP-seq
MIRT1215399	hsa-miR-1286	CLIP-seq
MIRT1215400	hsa-miR-17	CLIP-seq
MIRT1215401	hsa-miR-20a	CLIP-seq
MIRT1215402	hsa-miR-20b	CLIP-seq
MIRT1215403	hsa-miR-2110	CLIP-seq
MIRT1215404	hsa-miR-2116	CLIP-seq
MIRT1215405	hsa-miR-2278	CLIP-seq
MIRT1215406	hsa-miR-3065-5p	CLIP-seq
MIRT1215407	hsa-miR-3128	CLIP-seq
MIRT1215408	hsa-miR-3133	CLIP-seq
MIRT1215409	hsa-miR-3134	CLIP-seq
MIRT1215410	hsa-miR-3145-5p	CLIP-seq
MIRT1215411	hsa-miR-3150a-3p	CLIP-seq
MIRT1215412	hsa-miR-3153	CLIP-seq
MIRT1215413	hsa-miR-3160-5p	CLIP-seq
MIRT1215414	hsa-miR-3175	CLIP-seq
MIRT1215415	hsa-miR-3187-5p	CLIP-seq
MIRT1215416	hsa-miR-3192	CLIP-seq
MIRT1215417	hsa-miR-324-5p	CLIP-seq
MIRT1215418	hsa-miR-3689a-5p	CLIP-seq
MIRT1215419	hsa-miR-3689b	CLIP-seq
MIRT1215420	hsa-miR-3689e	CLIP-seq
MIRT1215421	hsa-miR-3689f	CLIP-seq
MIRT1215422	hsa-miR-378g	CLIP-seq
MIRT1215423	hsa-miR-3921	CLIP-seq
MIRT1215424	hsa-miR-3941	CLIP-seq
MIRT1215425	hsa-miR-412	CLIP-seq
MIRT1215426	hsa-miR-4252	CLIP-seq
MIRT1215427	hsa-miR-4259	CLIP-seq
MIRT1215428	hsa-miR-4271	CLIP-seq
MIRT1215429	hsa-miR-4286	CLIP-seq
MIRT1215430	hsa-miR-4297	CLIP-seq
MIRT1215431	hsa-miR-4303	CLIP-seq
MIRT1215432	hsa-miR-4314	CLIP-seq
MIRT1215433	hsa-miR-4436a	CLIP-seq
MIRT1215434	hsa-miR-4453	CLIP-seq
MIRT1215435	hsa-miR-4468	CLIP-seq
MIRT1215436	hsa-miR-4470	CLIP-seq
MIRT1215437	hsa-miR-4486	CLIP-seq
MIRT1215438	hsa-miR-4534	CLIP-seq
MIRT1215439	hsa-miR-4538	CLIP-seq
MIRT1215440	hsa-miR-4643	CLIP-seq
MIRT1215441	hsa-miR-4646-5p	CLIP-seq
MIRT1215442	hsa-miR-4653-5p	CLIP-seq
MIRT1215443	hsa-miR-466	CLIP-seq
MIRT1215444	hsa-miR-4672	CLIP-seq
MIRT1215445	hsa-miR-4679	CLIP-seq
MIRT1215446	hsa-miR-4701-3p	CLIP-seq
MIRT1215447	hsa-miR-4714-5p	CLIP-seq
MIRT1215448	hsa-miR-4715-5p	CLIP-seq
MIRT1215449	hsa-miR-4720-5p	CLIP-seq
MIRT1215450	hsa-miR-4725-3p	CLIP-seq
MIRT1215451	hsa-miR-4761-3p	CLIP-seq
MIRT1215452	hsa-miR-4766-5p	CLIP-seq
MIRT1215453	hsa-miR-4771	CLIP-seq
MIRT1215454	hsa-miR-4789-3p	CLIP-seq
MIRT1215455	hsa-miR-4796-3p	CLIP-seq
MIRT1215456	hsa-miR-4799-3p	CLIP-seq
MIRT1215457	hsa-miR-488	CLIP-seq
MIRT1215458	hsa-miR-491-5p	CLIP-seq
MIRT1215459	hsa-miR-499-3p	CLIP-seq
MIRT1215460	hsa-miR-499a-3p	CLIP-seq
MIRT1215461	hsa-miR-515-3p	CLIP-seq
MIRT1215462	hsa-miR-519d	CLIP-seq
MIRT1215463	hsa-miR-519e	CLIP-seq
MIRT1215464	hsa-miR-544	CLIP-seq
MIRT1215465	hsa-miR-600	CLIP-seq
MIRT1215466	hsa-miR-612	CLIP-seq
MIRT1215467	hsa-miR-659	CLIP-seq
MIRT1215468	hsa-miR-93	CLIP-seq
MIRT1215469	hsa-miR-939	CLIP-seq
MIRT2061986	hsa-miR-135a	CLIP-seq
MIRT2061987	hsa-miR-135b	CLIP-seq
MIRT2061988	hsa-miR-146a	CLIP-seq
MIRT2061989	hsa-miR-146b-5p	CLIP-seq
MIRT2061990	hsa-miR-188-3p	CLIP-seq
MIRT1215406	hsa-miR-3065-5p	CLIP-seq
MIRT2061991	hsa-miR-3157-3p	CLIP-seq
MIRT2061992	hsa-miR-3689a-3p	CLIP-seq
MIRT2061993	hsa-miR-3689c	CLIP-seq
MIRT2061994	hsa-miR-4290	CLIP-seq
MIRT1215432	hsa-miR-4314	CLIP-seq
MIRT2061995	hsa-miR-4768-5p	CLIP-seq
MIRT2061996	hsa-miR-532-3p	CLIP-seq
MIRT2061997	hsa-miR-554	CLIP-seq
MIRT2061998	hsa-miR-874	CLIP-seq
MIRT2061999	hsa-miR-934	CLIP-seq
MIRT1215392	hsa-miR-122	CLIP-seq
MIRT1215395	hsa-miR-1237	CLIP-seq
MIRT1215396	hsa-miR-1248	CLIP-seq
MIRT1215397	hsa-miR-1262	CLIP-seq
MIRT2061986	hsa-miR-135a	CLIP-seq
MIRT2061987	hsa-miR-135b	CLIP-seq
MIRT2061988	hsa-miR-146a	CLIP-seq
MIRT2061989	hsa-miR-146b-5p	CLIP-seq
MIRT2290495	hsa-miR-197	CLIP-seq
MIRT1215409	hsa-miR-3134	CLIP-seq
MIRT2061992	hsa-miR-3689a-3p	CLIP-seq
MIRT2061993	hsa-miR-3689c	CLIP-seq
MIRT1215425	hsa-miR-412	CLIP-seq
MIRT1215427	hsa-miR-4259	CLIP-seq
MIRT2290496	hsa-miR-4293	CLIP-seq
MIRT1215432	hsa-miR-4314	CLIP-seq
MIRT2290497	hsa-miR-4324	CLIP-seq
MIRT1215438	hsa-miR-4534	CLIP-seq
MIRT1215446	hsa-miR-4701-3p	CLIP-seq
MIRT1215448	hsa-miR-4715-5p	CLIP-seq
MIRT2061990	hsa-miR-188-3p	CLIP-seq
MIRT1215406	hsa-miR-3065-5p	CLIP-seq
MIRT2392170	hsa-miR-3126-3p	CLIP-seq
MIRT2061991	hsa-miR-3157-3p	CLIP-seq
MIRT2061994	hsa-miR-4290	CLIP-seq
MIRT2392171	hsa-miR-4459	CLIP-seq
MIRT2061996	hsa-miR-532-3p	CLIP-seq
MIRT2061998	hsa-miR-874	CLIP-seq
MIRT2431900	hsa-miR-3187-3p	CLIP-seq
MIRT2431901	hsa-miR-3202	CLIP-seq
MIRT2431902	hsa-miR-4435	CLIP-seq
MIRT2431903	hsa-miR-4529-5p	CLIP-seq
MIRT2431904	hsa-miR-4533	CLIP-seq
MIRT2431905	hsa-miR-4701-5p	CLIP-seq
MIRT2431906	hsa-miR-548s	CLIP-seq
MIRT2431907	hsa-miR-588	CLIP-seq
MIRT2061990	hsa-miR-188-3p	CLIP-seq
MIRT2061996	hsa-miR-532-3p	CLIP-seq
MIRT2588515	hsa-miR-1587	CLIP-seq
MIRT2588516	hsa-miR-4505	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	9339373
GO:0005634	Component	Nucleus	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007517	Process	Muscle organ development	IEA
GO:0009653	Process	Anatomical structure morphogenesis	TAS	9339373
GO:0043066	Process	Negative regulation of apoptotic process	TAS	10871843
GO:0048856	Process	Anatomical structure development	IBA	21873635
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 167410
• HGNC: 8621
• e!Ensembl: ENSG00000009709

Protein

• UniProt ID: P23759
• Protein name: Paired box protein Pax-7 (HuP1)
• Protein function: Transcription factor that is involved in the regulation of muscle stem cells proliferation, playing a role in myogenesis and muscle regeneration.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00292	PAX	34 → 161		Domain
  PF00046	Homeodomain	218 → 274	Homeodomain	Domain
  PF12360	Pax7	345 → 385	Paired box protein 7	Family

• Sequence:

  MAALPGTVPRMMRPAPGQNYPRTGFPLEVSTPLGQGRVNQLGGVFINGRPLPNHIRHKIV
  EMAHHGIRPCVISRQLRVSHGCVSKILCRYQETGSIRPGAIGGSKPRQVATPDVEKKIEE
  YKRENPGMFSWEIRDRLLKDGHCDRSTVPSGLVSSISRVLRIKFGKKEEEDEADKKEDDG
  EKKAKHSIDGILGDKGNRLDEGSDVESEPDLPLKRKQRRSRTTFTAEQLEELEKAFERTH
  YPDIYTREELAQRTKLTEARVQVWFSNRRARWRKQAGANQLAAFNHLLPGGFPPTGMPTL
  PPYQLPDSTYPTTTISQDGGSTVHRPQPLPPSTMHQGGLAAAAAAADTSSAYGARHSFSS
  YSDSFMNPAAPSNHMNPVSNGLSPQVMSILGNPSAVPPQPQADFSISPLHGGLDSATSIS
  ASCSQRADSIKPGDSLPTSQAYCPPTYSTTGYSVDPVAGYQYGQYGQTAVDYLAKNVSLS
  TQRRMKLGEHSAVLGLLPVETGQAY

• Sequence length: 505

Pathways

KEGG:

Transcriptional misregulation in cancer

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085	31092906

Unknown
Disease name	Disease term	dbSNP ID	References
Alveolar rhabdomyosarcoma	Alveolar rhabdomyosarcoma		25768946
Oral cleft	Oral cleft		28054174
Ptosis	Blepharoptosis, Ptosis	rs139920573	31092906