1. Gene
  2. PAX9 - paired box 9 Gene

PAX9 - paired box 9 Gene

中文名称:配对盒 9

种属: Homo sapiens

同用名: STHAG3

基因 ID: 5083 | 基因类型: protein coding

关于 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.

功能概要

该基因是转录因子配对盒 (PAX) 家族的成员。该基因家族的成员通常包含一个配对盒域、一个八肽和一个配对型同源域。这些基因在胎儿发育和癌症生长过程中发挥着关键作用。缺乏该基因的小鼠表现出器官、肌肉组织和骨骼发育受损,包括牙齿缺失和异常发育,以及新生儿死亡。人类基因的突变与选择性牙齿发育不全有关 3。[RefSeq 提供,2015 年 9 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
12657635 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
12657635 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

PAX9 蛋白结构

PAX

PAX: 'Paired box' domain (5 - 128)

  • 0
  • 100
  • 200
  • 300
  • 341 a.a.
蛋白主名 其他名称

paired box protein Pax-9

paired domain gene 9

PAX9 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
PAX9 P55771 KRTAP13-3 Homo sapiens Q3SY46 32296183
种属内
PAX9 P55771 KRTAP13-3 Homo sapiens Q3SY46 32296183
种属内
PAX9 P55771 KRTAP13-3 Homo sapiens Q3SY46 32296183
种属内
PAX9 P55771 ZNF343 Homo sapiens Q6P1L6 32296183
种属内
PAX9 P55771 ZNF343 Homo sapiens Q6P1L6 32296183
种属内
PAX9 P55771 ZNF343 Homo sapiens Q6P1L6 32296183
种属内
PAX9 P55771 SLAIN1 Homo sapiens Q8ND83 32296183
种属内
PAX9 P55771 SLAIN1 Homo sapiens Q8ND83 32296183
种属内
PAX9 P55771 SLAIN1 Homo sapiens Q8ND83 32296183
种属内
PAX9 P55771 TEPSIN Homo sapiens Q96N21 32296183
种属内
PAX9 P55771 TEPSIN Homo sapiens Q96N21 32296183
种属内
PAX9 P55771 TEPSIN Homo sapiens Q96N21 32296183
种属内
PAX9 P55771 TLE5 Homo sapiens Q08117-2 32296183
种属内
PAX9 P55771 TLE5 Homo sapiens Q08117-2 32296183
种属内
PAX9 P55771 TLE5 Homo sapiens Q08117-2 32296183
种属内
PAX9 P55771 LMO2 Homo sapiens P25791-3 32296183
种属内
PAX9 P55771 LMO2 Homo sapiens P25791-3 32296183
种属内
PAX9 P55771 WWOX Homo sapiens Q9NZC7-5 32296183
种属内
PAX9 P55771 WWOX Homo sapiens Q9NZC7-5 32296183
种属内
PAX9 P55771 WWOX Homo sapiens Q9NZC7-5 32296183
种属内
PAX9 P55771 EYA2 Homo sapiens O00167-2 32296183
种属内
PAX9 P55771 EYA2 Homo sapiens O00167-2 32296183
种属内
PAX9 P55771 VPS37C Homo sapiens A5D8V6 32296183
种属内
PAX9 P55771 VPS37C Homo sapiens A5D8V6 32296183
种属内
PAX9 P55771 PLAGL2 Homo sapiens Q9UPG8 32296183
种属内
PAX9 P55771 PLAGL2 Homo sapiens Q9UPG8 32296183
种属内
PAX9 P55771 PLAGL2 Homo sapiens Q9UPG8 32296183
种属内
PAX9 P55771 PFDN5 Homo sapiens Q99471 32296183
种属内
PAX9 P55771 PFDN5 Homo sapiens Q99471 32296183
种属内
PAX9 P55771 PFDN5 Homo sapiens Q99471 32296183
种属内
PAX9 P55771 TRIP13 Homo sapiens Q15645 32296183
种属内
PAX9 P55771 TRIP13 Homo sapiens Q15645 32296183
种属内
PAX9 P55771 TRIP13 Homo sapiens Q15645 32296183
种属内
PAX9 P55771 MYLIP Homo sapiens Q8WY64 32296183
种属内
PAX9 P55771 MYLIP Homo sapiens Q8WY64 32296183
种属内
PAX9 P55771 MYLIP Homo sapiens Q8WY64 32296183
种属内
PAX9 P55771 KLF4 Homo sapiens O43474 32296183
种属内
PAX9 P55771 KLF4 Homo sapiens O43474 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

PAX9 抗体

目录号 产品名 应用 反应物种
HY-P83400 PAX9 Antibody (YA3145) WB Human, Mouse, Rat

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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