PAX9 - paired box 9 Gene

Also Known as STHAG3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5083

About PAX9

Cytogenetic location: 14q13.3 Genomic coordinates (GRCh38): 14:36,657,568-36,679,362 (from NCBI)

This gene has 6 transcripts (splice variants), 201 orthologues, 50 paralogues and is associated with 4 phenotypes. Biased expression in esophagus (RPKM 29.7), salivary gland (RPKM 11.4) and 1 other tissue.

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 Cancer growth. Mice lacking this gene exhibit impaired development of organs, musculature and the skeleton, including absent and abnormally developed teeth, and neonatal lethality. Mutations in the human gene are associated with selective tooth agenesis-3. [provided by RefSeq, Sep 2015]

PAX9 Products (2)

mRNA	Protein	Name
NM_001372076.1	NP_001359005.1	paired box protein Pax-9
NM_006194.4	NP_006185.1	paired box protein Pax-9

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12657635	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	12657635	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PAX9 Protein Structure

PAX

0
100
200
300
341 a.a.

Protein Preferred Names	Protein Names
paired box protein Pax-9	paired domain gene 9

PAX9 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	PAX9	P55771	KRTAP13-3	Homo sapiens	Q3SY46	Y2H Prey Pooling	32296183
Intra	PAX9	P55771	KRTAP13-3	Homo sapiens	Q3SY46	Validated Y2H	32296183
Intra	PAX9	P55771	KRTAP13-3	Homo sapiens	Q3SY46	Y2H Array	32296183
Intra	PAX9	P55771	ZNF343	Homo sapiens	Q6P1L6	Validated Y2H	32296183
Intra	PAX9	P55771	ZNF343	Homo sapiens	Q6P1L6	Y2H Array	32296183
Intra	PAX9	P55771	ZNF343	Homo sapiens	Q6P1L6	Y2H Prey Pooling	32296183
Intra	PAX9	P55771	SLAIN1	Homo sapiens	Q8ND83	Y2H Array	32296183
Intra	PAX9	P55771	SLAIN1	Homo sapiens	Q8ND83	Validated Y2H	32296183
Intra	PAX9	P55771	SLAIN1	Homo sapiens	Q8ND83	Y2H Prey Pooling	32296183
Intra	PAX9	P55771	TEPSIN	Homo sapiens	Q96N21	Y2H Prey Pooling	32296183
Intra	PAX9	P55771	TEPSIN	Homo sapiens	Q96N21	Validated Y2H	32296183
Intra	PAX9	P55771	TEPSIN	Homo sapiens	Q96N21	Y2H Array	32296183
Intra	PAX9	P55771	TLE5	Homo sapiens	Q08117-2	Y2H Prey Pooling	32296183
Intra	PAX9	P55771	TLE5	Homo sapiens	Q08117-2	Validated Y2H	32296183
Intra	PAX9	P55771	TLE5	Homo sapiens	Q08117-2	Y2H Array	32296183
Intra	PAX9	P55771	LMO2	Homo sapiens	P25791-3	Y2H Prey Pooling	32296183
Intra	PAX9	P55771	LMO2	Homo sapiens	P25791-3	Y2H Array	32296183
Intra	PAX9	P55771	WWOX	Homo sapiens	Q9NZC7-5	Validated Y2H	32296183
Intra	PAX9	P55771	WWOX	Homo sapiens	Q9NZC7-5	Y2H Array	32296183
Intra	PAX9	P55771	WWOX	Homo sapiens	Q9NZC7-5	Y2H Prey Pooling	32296183
Intra	PAX9	P55771	EYA2	Homo sapiens	O00167-2	Y2H Prey Pooling	32296183
Intra	PAX9	P55771	EYA2	Homo sapiens	O00167-2	Y2H Array	32296183
Intra	PAX9	P55771	VPS37C	Homo sapiens	A5D8V6	Y2H Prey Pooling	32296183
Intra	PAX9	P55771	VPS37C	Homo sapiens	A5D8V6	Y2H Array	32296183
Intra	PAX9	P55771	PLAGL2	Homo sapiens	Q9UPG8	Validated Y2H	32296183
Intra	PAX9	P55771	PLAGL2	Homo sapiens	Q9UPG8	Y2H Array	32296183
Intra	PAX9	P55771	PLAGL2	Homo sapiens	Q9UPG8	Y2H Prey Pooling	32296183
Intra	PAX9	P55771	PFDN5	Homo sapiens	Q99471	Y2H Prey Pooling	32296183
Intra	PAX9	P55771	PFDN5	Homo sapiens	Q99471	Validated Y2H	32296183
Intra	PAX9	P55771	PFDN5	Homo sapiens	Q99471	Y2H Array	32296183
Intra	PAX9	P55771	TRIP13	Homo sapiens	Q15645	Y2H Array	32296183
Intra	PAX9	P55771	TRIP13	Homo sapiens	Q15645	Y2H Prey Pooling	32296183
Intra	PAX9	P55771	TRIP13	Homo sapiens	Q15645	Validated Y2H	32296183
Intra	PAX9	P55771	MYLIP	Homo sapiens	Q8WY64	Validated Y2H	32296183
Intra	PAX9	P55771	MYLIP	Homo sapiens	Q8WY64	Y2H Array	32296183
Intra	PAX9	P55771	MYLIP	Homo sapiens	Q8WY64	Y2H Prey Pooling	32296183
Intra	PAX9	P55771	KLF4	Homo sapiens	O43474	Y2H Array	32296183
Intra	PAX9	P55771	KLF4	Homo sapiens	O43474	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

PAX9 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P83400	PAX9 Antibody (YA3145)	WB	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Tooth Agenesis, Selective, 3	STHAG3 Hypodontia/Oligodontia 3 Hyd3 Selective Tooth Agenesis 3
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
Tooth Agenesis, Selective, 1	STHAG1 Hypodontia/Oligodontia 1 Hyd1 Tooth Agenesis, Familial Tooth Agenesis, Selective, 1, With Or Without Orofacial Cleft Second Premolars And Third Molars, Absence Of Absence Of Second Premolars And Third Molars Familial Tooth Agenesis Hypodontia/Oligodontia With Orofacial Cleft Selective Tooth Agenesis 1 Selective Tooth Agenesis With Orofacial Cleft
Anodontia	Complete Absence Of Teeth Developmental Absence Of Tooth Total Anodontia Of Permanent And Deciduous Teeth Absence Of Permanent Teeth Anodontia Of Permanent Dentition Agomphiasis Agomphosis Anodontism Complete Developmental Absence Of Teeth Congenital Absence Of Teeth Congenital Complete Absence Of Teeth Congenital Edentia Absence Of Teeth Absent Teeth Congenital Partial Absence Of Teeth Partial Absence Of Teeth Partial Anodontia
Cleft Lip	Cheiloschisis Labium Leporinum Cleft Lip, Unilateral, Complete Complete Unilateral Cleft Lip Hare Lip Congenital Fissure Of Lip Isolated Cleft Lip Cleft Lip Without Cleft Palate Cleft Lip Without Cleft Palate, Unilateral Isolated Cleft Lip, Unilateral Cleft Lip Without Cleft Palate, Bilateral Isolated Cleft Lip, Bilateral
Chromosome 14q11-Q22 Deletion Syndrome	14q11.2 Microdeletion Syndrome Zahir-Friedman Syndrome Del(14)(Q11.2) Monosomy 14q11.2
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Christ-Siemens-Touraine Syndrome XHED Ectodermal Dysplasia 1 Xlhed Ed1 Cst Syndrome Ectodermal Dysplasia 1, Hypohidrotic/Hair/Tooth Type, X-Linked Ectd1 Ectodermal Dysplasia, Anhidrotic, X-Linked Eda Eda1 Hed1 Ectodermal Dysplasia 1, Anhidrotic X-Linked Anhidrotic Ectodermal Dysplasia X-Linked Hypohidrotic Ectodermal Dysplasia Hypohidrotic X-Linked Ectodermal Dysplasia Ectodermal Dysplasia, Hypohidrotic, 1 Hypohidrotic Ectodermal Dysplasia, X-Linked Anhidrotic Ectodermal Dysplasia X-Linked Hypohidrotic Ectodermal Dysplasia X-Linked Ectodermal Dysplasia 1 Hypohidrotic/Hair/Tooth Type X-Linked Ectodermal Dysplasia Anhidrotic
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia ANKG 'Tongue-Tie' Tongue-Tie Tongue Tie Aberrant Insertion Of Labial Frenulum Aberrant Insertion Of Frenum Of Tongue Short Frenulum Linguae Short Frenulum Of Tongue
Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Hypohidrotic Ectodermal Dysplasia Hed Anhidrotic Ectodermal Dysplasia Ectodermal Dysplasia, Hypohidrotic Eda Christ-Siemens-Touraine Syndrome ECTD10B Ectodermal Dysplasia Anhidrotic Ectodermal Dysplasia, Anhidrotic Cst Syndrome Ectodermal Dysplasia Hypohidrotic Autosomal Recessive Dysplasia, Ectodermal, Type 10b, Hypohidrotic/Hair/Tooth, Autosomal Recessive Dysplasia, Ectodermal, Hypohidrotic Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive Ectodermal Dysplasia 3, Anhidrotic Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Ectodermal Dysplasia 10b	Ectd10b Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Nail Type, Autosomal Recessive
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Orofacial Cleft 5	OFC5 Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 5 Nonsyndromic Cleft Lip With Or Without Cleft Palate 5 Non-Syndromic Orofacial Cleft 5 Non-Syndromic Cleft Lip/Palate 5 Non-Syndromic Cleft Lip With Or Without Cleft Palate 5 Orofacial Cleft, Type 5
Ectodermal Dysplasia 13, Hair/Tooth Type	ECTD13 Ectodermal Dysplasia 13
Van Der Woude Syndrome	Lip-Pit Syndrome Vws Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip Vdws Lps Lip Pit Syndrome Cleft Lip/Palate With Mucous Cysts Of Lower Lip Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments
Ovarian Seromucinous Carcinoma	Mixed Epithelial Carcinoma Of Ovary Ovary Mixed Epithelial Carcinoma
Treacher Collins Syndrome 1	Treacher Collins Syndrome Mandibulofacial Dysostosis Treacher Collins-Franceschetti Syndrome Tcof Tcs Mfd1 Franceschetti-Klein Syndrome TCS1 Franceschetti Syndrome Franceschetti-Zwahlen-Klein Syndrome Zygoauromandibular Dysplasia Treacher-Collins Syndrome Mandibulofacial Dysostosis Without Limb Anomalies Bilateral And Symmetric Oto-Mandibular Dysplasia
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Orofacial Cleft	Cleft, Orofacial
Schopf-Schulz-Passarge Syndrome	SSPS Eccrine Tumors With Ectodermal Dysplasia Eccrine Tumors-Ectodermal Dysplasia Keratosis Palmoplantaris-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome Palmoplantar Hyperkeratosis-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome Palmoplantar Keratoderma-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome Keratosis Palmoplantaris With Cystic Eyelids, Hypodontia, And Hypotrichosis Keratosis Palmoplantaris With Cystic Eyelids, Hypodontia And Hypotrichosis
Ectodermal Dysplasia 10a, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	ECTD10A Hed Ectodermal Dysplasia 10a Ectodermal Dysplasia Hypohidrotic Autosomal Dominant Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Autosomal Dominant Ad-Hed Autosomal Dominant Anhidrotic Ectodermal Dysplasia Ectodermal Dysplasia 3 Ed3 Eda3 Ectodermal Dysplasia, Anhidrotic, Autosomal Dominant Dysplasia, Ectodermal, Type 10a, Hypohidrotic/Hair/Nail, Autosomal Dominant Dysplasia, Ectodermal, Type 3
Klippel-Feil Syndrome	Cervical Vertebral Fusion Congenital Dystrophia Brevicollis Cervical Fusion Syndrome Klippel-Feil Deformity Autosomal Dominant Klippel-Feil Syndrome Congenital Synostosis Of Cervical Vertebrae Klippel-Feil And Turner Syndrome Klippel-Feil Deformity, Deafness And Facial Asymmetry Klippel Feil Syndrome Cervical Vertebral Fusion Syndrome Dystrophia Brevicollis Congenita Fusion Of Cervical Vertebrae Kfs Klippel-Feil Sequence Vertebral Cervical Fusion Syndrome Klippel-Feil Syndrome, Autosomal Dominant Klippel-Feil Malformation Isolated Klippel-Feil Syndrome
Lung Cancer	Lung Carcinoma Non-Small Cell Lung Carcinoma Lung Cancer, Susceptibility To Lung Cancer, Protection Against Adenocarcinoma Of Lung, Somatic Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer Lung Neoplasm Carcinoma Of Lung Lung Non-Small Cell Carcinoma Non-Small Cell Lung Cancer Nsclc Lung Neoplasms Malignant Neoplasm Of Lung Alveolar Cell Carcinoma Nonsmall Cell Lung Cancer, Somatic Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer, Susceptibility To Lung Cancer, Somatic Lung Cancer, Resistance To Cancer Of Lung Cancer Of Bronchus Cancer Of The Lung Lung Malignancies Lung Malignant Tumors Malignant Lung Tumor Malignant Tumor Of Lung Pulmonary Cancer Pulmonary Carcinoma Pulmonary Neoplasms Respiratory Carcinoma LNCR Adenocarcinoma Of Lung Neoplasm Of Lung Cancer Lung Carcinoma Non-Small Cell Lung Carcinoma, Non-Small-Cell Lung Lung Cancers Lung Carcinomas Cancer, Lung Cancer, Lung, Non-Small Cell Primary Malignant Neoplasm Of Lung Bronchioloalveolar Adenocarcinoma
Cleidocranial Dysplasia	Cleidocranial Dysostosis CLCD Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly CCD Marie-Sainton Disease Dysplasia Cleidocranial Dento-Osseous Dysplasia Marie-Sainton Syndrome Dysplasia, Cleidocranial
Wolf-Hirschhorn Syndrome	Pitt-Rogers-Danks Syndrome WHS Chromosome 4p16.3 Deletion Syndrome Wittwer Syndrome 4p- Syndrome Pitt Syndrome 4p Deletion Syndrome Distal Deletion 4p Distal Monosomy 4p Telomeric Deletion 4p Prds 4p Syndrome Chromosome 4p Syndrome Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation Wolf Syndrome Chromosome 4p Deletion Syndrome Chromosome 4p Monosomy Del Syndrome Monosomy 4p Partial Monosomy 4p Chromosome 4 Short Arm Deletion

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS10096	PAX9 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174554	Human PAX9 mRNA		/	Unkown
HY-RS22269	Pax9 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28792	Pax9 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PAX9	VGNC	VGNC:68703
Mus musculus	PAX9	MGD	MGI:97493
Bos taurus	PAX9	VGNC	VGNC:32600
Rattus norvegicus	PAX9	RGD	RGD:1560838
Macaca mulatta	PAX9	VGNC	VGNC:75768
Canis familiaris	PAX9	VGNC	VGNC:44280
Others	PAX9	NCBI