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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	5083
Gene name	Paired box 9
Gene symbol	PAX9
Synonyms (NCBI Gene)	STHAG3
Chromosome	14
Chromosome location	14q13.3
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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1594475481	->C	Pathogenic	Frameshift variant, coding sequence variant

212

Show/Hide all (212)

miRTarBase ID	miRNA	Experiments	Reference
MIRT555831	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT555830	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT555829	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT555828	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT555827	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT555826	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT555825	hsa-miR-624-5p	PAR-CLIP	21572407
MIRT555824	hsa-miR-101-5p	PAR-CLIP	21572407
MIRT555823	hsa-miR-3907	PAR-CLIP	21572407
MIRT555822	hsa-miR-137	PAR-CLIP	21572407
MIRT734246	hsa-miR-450b-3p	qRT-PCR	31569419
MIRT737035	hsa-miR-130b-3p	Luciferase reporter assayWestern blottingqRT-PCR	34183777
MIRT555831	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT555830	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT555829	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT555828	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT555827	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT555826	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT555825	hsa-miR-624-5p	PAR-CLIP	21572407
MIRT555824	hsa-miR-101-5p	PAR-CLIP	21572407
MIRT555823	hsa-miR-3907	PAR-CLIP	21572407
MIRT555822	hsa-miR-137	PAR-CLIP	21572407
MIRT1215510	hsa-miR-1197	CLIP-seq
MIRT1215511	hsa-miR-1272	CLIP-seq
MIRT1215512	hsa-miR-1273f	CLIP-seq
MIRT1215513	hsa-miR-127-5p	CLIP-seq
MIRT1215514	hsa-miR-128	CLIP-seq
MIRT1215515	hsa-miR-140-5p	CLIP-seq
MIRT1215516	hsa-miR-143	CLIP-seq
MIRT1215517	hsa-miR-181a	CLIP-seq
MIRT1215518	hsa-miR-181b	CLIP-seq
MIRT1215519	hsa-miR-181c	CLIP-seq
MIRT1215520	hsa-miR-181d	CLIP-seq
MIRT1215521	hsa-miR-216a	CLIP-seq
MIRT1215522	hsa-miR-217	CLIP-seq
MIRT1215523	hsa-miR-223	CLIP-seq
MIRT1215524	hsa-miR-2278	CLIP-seq
MIRT1215525	hsa-miR-25	CLIP-seq
MIRT1215526	hsa-miR-27a	CLIP-seq
MIRT1215527	hsa-miR-27b	CLIP-seq
MIRT1215528	hsa-miR-3065-5p	CLIP-seq
MIRT1215529	hsa-miR-30a	CLIP-seq
MIRT1215530	hsa-miR-30b	CLIP-seq
MIRT1215531	hsa-miR-30c	CLIP-seq
MIRT1215532	hsa-miR-30d	CLIP-seq
MIRT1215533	hsa-miR-30e	CLIP-seq
MIRT1215534	hsa-miR-3120-3p	CLIP-seq
MIRT1215535	hsa-miR-3182	CLIP-seq
MIRT1215536	hsa-miR-32	CLIP-seq
MIRT1215537	hsa-miR-320a	CLIP-seq
MIRT1215538	hsa-miR-320b	CLIP-seq
MIRT1215539	hsa-miR-320c	CLIP-seq
MIRT1215540	hsa-miR-320d	CLIP-seq
MIRT1215541	hsa-miR-3614-3p	CLIP-seq
MIRT1215542	hsa-miR-363	CLIP-seq
MIRT1215543	hsa-miR-367	CLIP-seq
MIRT1215544	hsa-miR-3685	CLIP-seq
MIRT1215545	hsa-miR-3686	CLIP-seq
MIRT1215546	hsa-miR-384	CLIP-seq
MIRT1215547	hsa-miR-409-5p	CLIP-seq
MIRT1215548	hsa-miR-4260	CLIP-seq
MIRT1215549	hsa-miR-4262	CLIP-seq
MIRT1215550	hsa-miR-4283	CLIP-seq
MIRT1215551	hsa-miR-4328	CLIP-seq
MIRT1215552	hsa-miR-4420	CLIP-seq
MIRT1215553	hsa-miR-4429	CLIP-seq
MIRT1215554	hsa-miR-4468	CLIP-seq
MIRT1215555	hsa-miR-4489	CLIP-seq
MIRT1215556	hsa-miR-4495	CLIP-seq
MIRT1215557	hsa-miR-450b-5p	CLIP-seq
MIRT1215558	hsa-miR-4656	CLIP-seq
MIRT1215559	hsa-miR-4697-3p	CLIP-seq
MIRT1215560	hsa-miR-4708-5p	CLIP-seq
MIRT1215561	hsa-miR-4770	CLIP-seq
MIRT1215562	hsa-miR-4786-3p	CLIP-seq
MIRT1215563	hsa-miR-494	CLIP-seq
MIRT1215564	hsa-miR-507	CLIP-seq
MIRT1215565	hsa-miR-513a-5p	CLIP-seq
MIRT1215566	hsa-miR-518a-5p	CLIP-seq
MIRT1215567	hsa-miR-527	CLIP-seq
MIRT1215568	hsa-miR-557	CLIP-seq
MIRT1215569	hsa-miR-587	CLIP-seq
MIRT1215570	hsa-miR-605	CLIP-seq
MIRT1215571	hsa-miR-607	CLIP-seq
MIRT1215572	hsa-miR-628-5p	CLIP-seq
MIRT1215573	hsa-miR-653	CLIP-seq
MIRT1215574	hsa-miR-664	CLIP-seq
MIRT1215575	hsa-miR-877	CLIP-seq
MIRT1215576	hsa-miR-890	CLIP-seq
MIRT1215577	hsa-miR-92a	CLIP-seq
MIRT1215578	hsa-miR-92b	CLIP-seq
MIRT2062021	hsa-miR-1303	CLIP-seq
MIRT1215517	hsa-miR-181a	CLIP-seq
MIRT1215518	hsa-miR-181b	CLIP-seq
MIRT1215519	hsa-miR-181c	CLIP-seq
MIRT1215520	hsa-miR-181d	CLIP-seq
MIRT2062022	hsa-miR-23a	CLIP-seq
MIRT2062023	hsa-miR-23b	CLIP-seq
MIRT2062024	hsa-miR-23c	CLIP-seq
MIRT1215526	hsa-miR-27a	CLIP-seq
MIRT1215527	hsa-miR-27b	CLIP-seq
MIRT1215529	hsa-miR-30a	CLIP-seq
MIRT1215530	hsa-miR-30b	CLIP-seq
MIRT1215531	hsa-miR-30c	CLIP-seq
MIRT1215532	hsa-miR-30d	CLIP-seq
MIRT1215533	hsa-miR-30e	CLIP-seq
MIRT1215534	hsa-miR-3120-3p	CLIP-seq
MIRT2062025	hsa-miR-3129-3p	CLIP-seq
MIRT1215535	hsa-miR-3182	CLIP-seq
MIRT1215545	hsa-miR-3686	CLIP-seq
MIRT1215549	hsa-miR-4262	CLIP-seq
MIRT1215556	hsa-miR-4495	CLIP-seq
MIRT2062026	hsa-miR-4699-3p	CLIP-seq
MIRT2062027	hsa-miR-4775	CLIP-seq
MIRT1215563	hsa-miR-494	CLIP-seq
MIRT2062028	hsa-miR-501-3p	CLIP-seq
MIRT2062029	hsa-miR-502-3p	CLIP-seq
MIRT1215565	hsa-miR-513a-5p	CLIP-seq
MIRT2062030	hsa-miR-520a-5p	CLIP-seq
MIRT2062031	hsa-miR-520d-5p	CLIP-seq
MIRT2062032	hsa-miR-524-5p	CLIP-seq
MIRT2062033	hsa-miR-525-5p	CLIP-seq
MIRT1215569	hsa-miR-587	CLIP-seq
MIRT2062034	hsa-miR-590-3p	CLIP-seq
MIRT1215574	hsa-miR-664	CLIP-seq
MIRT2062035	hsa-miR-767-5p	CLIP-seq
MIRT2290508	hsa-miR-1	CLIP-seq
MIRT2290509	hsa-miR-105	CLIP-seq
MIRT2290510	hsa-miR-1273e	CLIP-seq
MIRT2290511	hsa-miR-1275	CLIP-seq
MIRT1215514	hsa-miR-128	CLIP-seq
MIRT2290512	hsa-miR-1323	CLIP-seq
MIRT1215515	hsa-miR-140-5p	CLIP-seq
MIRT1215517	hsa-miR-181a	CLIP-seq
MIRT1215518	hsa-miR-181b	CLIP-seq
MIRT1215519	hsa-miR-181c	CLIP-seq
MIRT1215520	hsa-miR-181d	CLIP-seq
MIRT2290513	hsa-miR-187	CLIP-seq
MIRT2290514	hsa-miR-206	CLIP-seq
MIRT1215521	hsa-miR-216a	CLIP-seq
MIRT2290515	hsa-miR-224	CLIP-seq
MIRT1215525	hsa-miR-25	CLIP-seq
MIRT1215526	hsa-miR-27a	CLIP-seq
MIRT1215527	hsa-miR-27b	CLIP-seq
MIRT2290516	hsa-miR-298	CLIP-seq
MIRT1215528	hsa-miR-3065-5p	CLIP-seq
MIRT1215529	hsa-miR-30a	CLIP-seq
MIRT1215530	hsa-miR-30b	CLIP-seq
MIRT1215531	hsa-miR-30c	CLIP-seq
MIRT1215532	hsa-miR-30d	CLIP-seq
MIRT1215533	hsa-miR-30e	CLIP-seq
MIRT1215534	hsa-miR-3120-3p	CLIP-seq
MIRT2290517	hsa-miR-3121-5p	CLIP-seq
MIRT2290518	hsa-miR-3151	CLIP-seq
MIRT2290519	hsa-miR-3154	CLIP-seq
MIRT1215535	hsa-miR-3182	CLIP-seq
MIRT2290520	hsa-miR-3184	CLIP-seq
MIRT1215536	hsa-miR-32	CLIP-seq
MIRT2290521	hsa-miR-3591-3p	CLIP-seq
MIRT1215542	hsa-miR-363	CLIP-seq
MIRT1215543	hsa-miR-367	CLIP-seq
MIRT2290522	hsa-miR-3673	CLIP-seq
MIRT2290523	hsa-miR-3678-5p	CLIP-seq
MIRT1215545	hsa-miR-3686	CLIP-seq
MIRT2290524	hsa-miR-3688-3p	CLIP-seq
MIRT2290525	hsa-miR-3691-3p	CLIP-seq
MIRT2290526	hsa-miR-3714	CLIP-seq
MIRT2290527	hsa-miR-3909	CLIP-seq
MIRT2290528	hsa-miR-3922-5p	CLIP-seq
MIRT2290529	hsa-miR-3940-5p	CLIP-seq
MIRT2290530	hsa-miR-3942-3p	CLIP-seq
MIRT2290531	hsa-miR-3976	CLIP-seq
MIRT2290532	hsa-miR-423-5p	CLIP-seq
MIRT1215548	hsa-miR-4260	CLIP-seq
MIRT1215549	hsa-miR-4262	CLIP-seq
MIRT2290533	hsa-miR-4270	CLIP-seq
MIRT2290534	hsa-miR-4282	CLIP-seq
MIRT1215550	hsa-miR-4283	CLIP-seq
MIRT2290535	hsa-miR-4441	CLIP-seq
MIRT2290536	hsa-miR-4488	CLIP-seq
MIRT1215555	hsa-miR-4489	CLIP-seq
MIRT1215556	hsa-miR-4495	CLIP-seq
MIRT2290537	hsa-miR-4507	CLIP-seq
MIRT2290538	hsa-miR-4651	CLIP-seq
MIRT1215558	hsa-miR-4656	CLIP-seq
MIRT2290539	hsa-miR-4665-5p	CLIP-seq
MIRT2290540	hsa-miR-4697-5p	CLIP-seq
MIRT2062026	hsa-miR-4699-3p	CLIP-seq
MIRT2290541	hsa-miR-4718	CLIP-seq
MIRT2290542	hsa-miR-4719	CLIP-seq
MIRT2290543	hsa-miR-4733-3p	CLIP-seq
MIRT2290544	hsa-miR-4764-5p	CLIP-seq
MIRT1215563	hsa-miR-494	CLIP-seq
MIRT2290545	hsa-miR-498	CLIP-seq
MIRT2062028	hsa-miR-501-3p	CLIP-seq
MIRT2062029	hsa-miR-502-3p	CLIP-seq
MIRT1215565	hsa-miR-513a-5p	CLIP-seq
MIRT2062030	hsa-miR-520a-5p	CLIP-seq
MIRT2062031	hsa-miR-520d-5p	CLIP-seq
MIRT2062032	hsa-miR-524-5p	CLIP-seq
MIRT2062033	hsa-miR-525-5p	CLIP-seq
MIRT2290546	hsa-miR-548o	CLIP-seq
MIRT1215571	hsa-miR-607	CLIP-seq
MIRT2290547	hsa-miR-608	CLIP-seq
MIRT2290548	hsa-miR-613	CLIP-seq
MIRT1215572	hsa-miR-628-5p	CLIP-seq
MIRT2062035	hsa-miR-767-5p	CLIP-seq
MIRT1215577	hsa-miR-92a	CLIP-seq
MIRT1215578	hsa-miR-92b	CLIP-seq
MIRT2290513	hsa-miR-187	CLIP-seq
MIRT2290527	hsa-miR-3909	CLIP-seq
MIRT2290541	hsa-miR-4718	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
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	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	12657635, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007492	Process	Endoderm development	IEA
GO:0042476	Process	Odontogenesis	IEA
GO:0042481	Process	Regulation of odontogenesis	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12657635
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0060325	Process	Face morphogenesis	IEA
GO:0071363	Process	Cellular response to growth factor stimulus	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
167416	8623	ENSG00000198807

P55771

Protein name

Paired box protein Pax-9

Protein function

Transcription factor required for normal development of thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal elements of skull and larynx as well as distal limbs.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00292	PAX	4 → 128		Domain

Sequence

MEPAFGEVNQLGGVFVNGRPLPNAIRLRIVELAQLGIRPCDISRQLRVSHGCVSKILARY
NETGSILPGAIGGSKPRVTTPTVVKHIRTYKQRDPGIFAWEIRDRLLADGVCDKYNVPSV
SSISRILRNKIGNLAQQGHYDSYKQHQPTPQPALPYNHIYSYPSPITAAAAKVPTPPGVP
AIPGSVAMPRTWPSSHSVTDILGIRSITDQVSDSSPYHSPKVEEWSSLGRNNFPAAAPHA
VNGLEKGALEQEAKYGQAPNGLPAVGSFVSASSMAPYPTPAQVSPYMTYSAAPSGYVAGH
GWQHAGGTSLSPHNCDIPASLAFKGMQAAREGSHSVTASAL

Sequence length

341

Interactions

View interactions

167

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hypodontia	Pathogenic	rs2139107881, rs1261824175, rs2139108839, rs2139108563, rs2139108430, rs1881355965, rs2139112502, rs2502239143, rs2502237653, rs28933972, rs1555316704, rs1594465933	RCV001390465 RCV001382911 RCV001388504 RCV002044559 RCV001972802 RCV002049257 RCV005095916 RCV002875714 RCV003010349 RCV003591632 RCV000631386 RCV000804216
Oligodontia	Pathogenic	rs2139107979, rs1881341880, rs2139108140, rs764595344, rs2139107997, rs2502246201, rs2502245564	RCV001374729 RCV001374730 RCV001374731 RCV001374732 RCV001449584 RCV004573144 RCV004573145
PAX9-related disorder	Pathogenic; Likely pathogenic	rs2139108839, rs2502238740, rs2502236933	RCV003405637 RCV003402423 RCV003420908
Tooth agenesis, selective, 3	Pathogenic; Likely pathogenic	rs587776350, rs2139108320, rs2139112502, rs2139108057, rs2139108573, rs2502236905, rs763028737, rs2502237209, rs2502237777, rs2502238080, rs2502238210, rs1881345182, rs104894467, rs28933970, rs2139108031 View all (11 more)	RCV000144943 RCV002260955 RCV002260956 RCV002260957 RCV002267694 RCV003324103 RCV003324104 RCV003324108 RCV003324109 RCV003324110 RCV003324111 RCV000014777 RCV000014778 RCV000014781 RCV000014782 RCV000014783 RCV000014784 RCV000014786 RCV000014787 RCV000014788 RCV000014791 RCV004595020 RCV000656432 RCV000494847 RCV000824856 RCV001290409

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Selective tooth agenesis	Uncertain significance; Likely benign	rs748540311, rs564902020, rs886050495, rs397830943	RCV000368895 RCV000356261 RCV000322470 RCV000279592

Show/Hide Text Mining Associations (39)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abortion Missed	Associate	35897718
Adenocarcinoma	Associate	30670912
Amelogenesis imperfecta local hypoplastic form	Associate	28910570
Anodontia	Associate	12605438, 16498076, 18701815, 18790474, 21111400, 23227268, 23549991, 23718693, 23857653, 24160254, 24631698, 25101640, 27665865, 28910570, 29893310 View all (7 more)
Breast Neoplasms	Associate	29727689, 34889888
Carcinogenesis	Associate	24631698
Carcinoma Squamous Cell	Associate	38115305
Cleft Lip	Associate	34684112
Cleft Palate	Associate	31609978, 34684112
Conversion Disorder	Associate	36017684, 39304502
Deafness oligodontia syndrome	Associate	16498076, 24222224, 25101640, 34228861, 36995881, 39304502
Deglutition Disorders	Associate	10204852
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	10204852
Dentinogenesis Imperfecta	Associate	23227268
Developmental Defects of Enamel	Associate	10204852
Ectodermal Dysplasia 1 Anhidrotic	Associate	26759063
Epilepsy Post Traumatic	Associate	31069070
Esophageal Squamous Cell Carcinoma	Associate	28560390
Genetic Diseases Inborn	Associate	18701815
Head and Neck Neoplasms	Associate	31131446
Hydatidiform Mole	Associate	34593752
Jaw Edentulous	Associate	35647187
Leukemia Lymphocytic Chronic B Cell	Associate	28572861
Lung Diseases	Associate	26425700
Lung Neoplasms	Associate	17925434, 19279207, 31526458
Malocclusion	Associate	39699986
Malocclusion Angle Class II	Associate	39699986
Mandibular Injuries	Associate	34593752
Maxillary Diseases	Associate	31069070
Muscular Dystrophy Congenital Megaconial Type	Associate	36017684
Neoplasm Metastasis	Associate	28560390
Neoplasms	Associate	28560390, 33782049, 34889888
Odontogenic Tumors	Associate	36344906
Orofacial Cleft 1	Associate	23718693, 34684112
Osteogenesis Imperfecta	Associate	23227268
Ovarian Neoplasms	Associate	34454589
Retinoblastoma	Associate	35782084
Single upper central incisor	Associate	23718693
Tooth Injuries	Associate	39183201

PAX9 (paired box 9)