Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5081
Gene name	Paired box 7
Gene symbol	PAX7
Synonyms (NCBI Gene)	CMYO19CMYP19HUP1MYOSCOPAX7BRMS2
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

Show/Hide all (4)

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

159

Show/Hide all (159)

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 blottingqRT-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

Show/Hide all (39)

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
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	31092906
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	9339373
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007399	Process	Nervous system development	IBA
GO:0007517	Process	Muscle organ development	IEA
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009653	Process	Anatomical structure morphogenesis	TAS	9339373
GO:0010453	Process	Regulation of cell fate commitment	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0014813	Process	Skeletal muscle satellite cell commitment	IEA
GO:0014816	Process	Skeletal muscle satellite cell differentiation	IEA
GO:0014816	Process	Skeletal muscle satellite cell differentiation	ISS
GO:0021527	Process	Spinal cord association neuron differentiation	IEA
GO:0021904	Process	Dorsal/ventral neural tube patterning	IEA
GO:0043066	Process	Negative regulation of apoptotic process	TAS	10871843
GO:0043403	Process	Skeletal muscle tissue regeneration	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048663	Process	Neuron fate commitment	IEA
GO:0048706	Process	Embryonic skeletal system development	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0060415	Process	Muscle tissue morphogenesis	IEA
GO:1902275	Process	Regulation of chromatin organization	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000288	Process	Positive regulation of myoblast proliferation	IEA

MIM	HGNC	e!Ensembl
167410	8621	ENSG00000009709

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

Interactions

View interactions

	KEGG
	Transcriptional misregulation in cancer

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Alveolar rhabdomyosarcoma	Likely pathogenic; Pathogenic	rs1176071790	RCV000991413
Myopathy, congenital, progressive, with scoliosis	Pathogenic; Likely pathogenic	rs752326328, rs1570098248, rs1176071790, rs1392068839	RCV000850254 RCV000850255 RCV000850256 RCV000850257

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Congenital myopathy with myasthenic-like onset	Uncertain significance	rs751430756	RCV005361736
Hereditary breast ovarian cancer syndrome	Uncertain significance	rs201602654	RCV001374580
PAX7-related disorder	Likely benign; Uncertain significance	rs371150760, rs1931359340, rs145120435, rs2089246022, rs776487181, rs2089074781, rs142590581, rs138918372, rs1437320339, rs143552197, rs550466055, rs150935650, rs762116733, rs2521556465, rs142754204	RCV003933719 RCV003399719 RCV003908984 RCV003893620 RCV003904420 RCV003901842 RCV003901950 RCV003897395 RCV003899456 RCV003961457 RCV003944715 RCV003922147 RCV003969766 RCV003968931 RCV003966776 RCV003908506
See cases	Uncertain significance	rs142754204	RCV004584431

Show/Hide Text Mining Associations (32)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Amyotrophic Lateral Sclerosis	Associate	27195289
Arm Injuries	Associate	34389744
Breast Neoplasms	Associate	33492284
Calcinosis Cutis	Associate	22089931
Cleft Lip	Associate	23463464, 28662356, 34684112
Cleft Palate	Associate	19142206, 23463464, 23512105, 24738728, 27369588, 31122291, 31262291, 34242216, 35191549
Desmoplastic Small Round Cell Tumor	Associate	24517889
Esotropia	Associate	34044792
Fibrosarcoma	Associate	24517889
Fibrosis	Associate	23553538
Leiomyosarcoma	Associate	28884746
Limb girdle muscular dystrophy type 2A	Associate	23553538
Malignant Teratocarcinosarcoma	Associate	36719455, 37378830
Masticatory Muscles Hypertrophy of	Associate	34789211
Muscle Neoplasms	Associate	36254806
Muscular Diseases	Associate	31092906
Muscular dystrophy congenital with central nervous system involvement	Associate	34789211
Muscular Dystrophy Facioscapulohumeral	Associate	31067297, 35082321
Myotonia Congenita	Associate	39967430
Neoplasms	Associate	16036108, 16435141, 24149177, 30703342, 33318583, 37871654, 7527137, 8789435
Neoplasms	Inhibit	35146962
Neuroectodermal Tumors	Associate	16036108
Orofacial Cleft 1	Associate	23463464, 25081408, 34684112, 35191549
Osteoarthritis	Associate	28202082
Otofaciocervical Syndrome	Associate	35191549
Pancreatic Neoplasms	Associate	35146962
Pulmonary Disease Chronic Obstructive	Associate	24666540
Rhabdomyosarcoma	Associate	17334332, 22089931, 22447499, 26226845, 28643791, 31480361, 31493794, 32697014, 33523558, 34285060, 34836971, 36044855, 7527137
Rhabdomyosarcoma Alveolar	Associate	10666368, 10700864, 12239174, 15184910, 16645206, 16849537, 18973919, 19953635, 21321994, 21666686, 22447499, 24427371, 24517889, 24551291, 27413008 View all (6 more)
Sarcoma Ewing	Associate	24517889, 28643791
Sarcoma Synovial	Associate	37193761
Temporomandibular Joint Disorders	Associate	34789211

PAX7 (paired box 7)