TBX22 - T-box transcription factor 22 Gene

中文名称：T 盒转录因子 22

种属: Homo sapiens

同用名: CPX; CLPA; TBXX; ABERS; dJ795G23.1

基因 ID: 50945 | 基因类型: protein coding

关于 TBX22

Cytogenetic location: Xq21.1 Genomic coordinates (GRCh38): X:80,014,753-80,031,774 (from NCBI)

This gene has 5 transcripts (splice variants), 1 gene allele, 197 orthologues, 16 paralogues and is associated with 6 phenotypes. Restricted expression toward testis (RPKM 6.4).

功能概要

该基因是系统发育保守基因家族的成员，该家族共享一个共同的 DNA 结合域，即 T 盒。 T-box 基因编码参与发育过程调控的转录因子。该基因的突变与遗传性 X 连锁疾病、伴强直性舌裂的腭裂有关，并且被认为在人类腭发育中发挥重要作用。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2008 年 7 月]

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene have been associated with the inherited X-linked disorder, Cleft palate with ankyloglossia, and it is believed to play a major role in human palatogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

TBX22 基因产物(4)

mRNA	Protein	Name
NM_001109878.2	NP_001103348.1	T-box transcription factor TBX22 isoform 1
NM_001109879.2	NP_001103349.1	T-box transcription factor TBX22 isoform 2
NM_001303475.1	NP_001290404.1	T-box transcription factor TBX22 isoform 2
NM_016954.2	NP_058650.1	T-box transcription factor TBX22 isoform 1

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables DNA binding	IDA IDA: 通过直接分析推断	17846996	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: 通过直接分析推断	17846996	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	25416956	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	17846996	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	17846996	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in nucleus	IDA IDA: 通过直接分析推断	17846996	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

TBX22 蛋白结构

T-box

0
100
200
300
400
520 a.a.

蛋白主名

其他名称

T-box transcription factor TBX22

T-box 22

关联疾病

疾病名称

别名

Cleft Palate With Or Without Ankyloglossia, X-Linked

Cleft Palate With Ankyloglossia	CPX
X-Linked Cleft Palate And Ankyloglossia	X-Linked Cleft Palate With Or Without Ankyloglossia
X-Linked Cleft Palate	X-Linked Cleft Palate With Ankyloglossia
Cleft Palate, With/Without Ankyloglossia, X-Linked

Abruzzo-Erickson Syndrome

Abruzzo Erickson Syndrome	ABERS
Charge-Like Syndrome, X-Linked	Cleft Palate-Coloboma-Deafness Syndrome
Charge Like Syndrome X-Linked	Charge-Like Syndrome
Cleft Palate-Coloboma-Hearing Loss Syndrome	X-Linked Charge-Like Syndrome

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

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 10

OFC10	Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 10
Nonsyndromic Cleft Lip With Or Without Cleft Palate 10	Non-Syndromic Orofacial Cleft 10
Non-Syndromic Cleft Lip/Palate 10	Non-Syndromic Cleft Lip With Or Without Cleft Palate 10
Orofacial Cleft, Type 10

Cleft Lip/Palate-Ectodermal Dysplasia Syndrome

Orofacial Cleft 7	Zlotogora-Ogur Syndrome
CLPED1	Ectodermal Dysplasia, Margarita Island Type
Ed4	Cleft Lip-Palate-Ectodermal Dysplasia Syndrome
Cleft Lip/Palate-Syndactyly-Pili Torti Syndrome	Syndactyly-Ectodermal Dysplasia-Cleft/Lip Palate
Ectodermal Dysplasia 4	Ectodermal Dysplasia Margarita Type
Ectodermal Dysplasia, Type 4	Ectodermal Dysplasia, Cleft Lip And Palate, Mental Retardation, And Syndactyly
Margarita Type Of Ectodermal Dysplasia	Zlotogora-Zilberman-Tenenbaum Syndrome
Ectd4	Ectodermal Dysplasia 4, Hair/Nail Type
EDMI	Ectodermal Dysplasia Type 4
Margarita Island Ectodermal Dysplasia	Syndactyly-Ectodermal Dysplasia-Cleft Lip/Palate
Non-Syndromic Orofacial Cleft 7	OFC7
Non-Syndromic Cleft Lip/Palate 7	Non-Syndromic Cleft Lip With Or Without Cleft Palate 7

Orofacial Cleft 11

OFC11	Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 11
Nonsyndromic Cleft Lip With Or Without Cleft Palate 11	Non-Syndromic Orofacial Cleft 11
Chcl	Cleft Lip Congenital Healed
Congenital Healed Cleft Lip	Non-Syndromic Cleft Lip/Palate 11
Non-Syndromic Cleft Lip With Or Without Cleft Palate 11	Orofacial Cleft, Type 11
Cleft Lip, Congenital Healed

Acrofrontofacionasal Dysostosis

Acrofrontofacionasal Dysostosis Syndrome	Richieri-Costa-Colletto Syndrome
Affn Dysostosis	Affn Dysostosis 1
Acro Fronto Facio Nasal Dysostosis	Cleft Lip/Palate With Frontonasal Dysostosis And Postaxial Polysyndactyly
Polysyndactyly, Postaxial, Frontonasal Dysostosis And Cleft Lip/Palate

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

Cleft Soft Palate

Cleft Velum	Cleft Velum Palatinum
Soft Cleft Palate	Soft Palate Perforation

Popliteal Pterygium Syndrome

PPS	Faciogenitopopliteal Syndrome
Facio-Genito-Popliteal Syndrome	Popliteal Web Syndrome
Autosomal Dominant Popliteal Pterygium Syndrome	Cleft Lip/Palate, Paramedian Mucous Cysts Of The Lower Lip, Popliteal Pterygium, Digital And Genital Anomalies
Popliteal Pterygium Syndrome 1	Cleft Lip/Palate Paramedian Mucous Cysts Of The Lower Lip Popliteal Pterygium Digital And Genital Anomalies
Popliteal Pterygium

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

Synostosis

Ulnar-Mammary Syndrome

Schinzel Syndrome	UMS
Pallister Ulnar-Mammary Syndrome	Ulnar-Mammary Syndrome Of Pallister

Orofacial Cleft 15

OFC15

Non-Syndromic Orofacial Cleft 15

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

Choanal Atresia, Posterior

Choanal Atresia	Atresia Of Nares
Posterior Choanal Atresia	PCA
Imperforate Nares	Choanal Fusion
Congenital Stenosis Of Nares	Congenital Stenosis Of Choanae
Nasal Atresia Nos

Orofacial Cleft

Cleft, Orofacial

Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate

Bamforth-Lazarus Syndrome	Bamforth Syndrome
Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate	Hypothyroidism Cleft Palate Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate
Athyroidal Hypothyroidism-Spiky Hair-Cleft Palate Syndrome	Hypothyroidism-Cleft Palate Syndrome
BLS	Athyroidal Hypothyroidism With Spiky Hair And Cleft Palate

Coloboma Of Optic Nerve

Morning Glory Disc Anomaly	Coloboma Of Optic Disc
Morning Glory Syndrome	Ectasic Coloboma
Coloboma Of Optic Papilla	Congenital Coloboma Of The Optic Nerve
Optic Nerve Coloboma	Optic Nerve Head Pits, Bilateral Congenital
Volubilis Syndrome	COLON
Coloboma Of Optic Disc, Unspecified Eye	Congenital Coloboma Of Optic Disc
Optic Disk Coloboma

Holt-Oram Syndrome

HOS	Atriodigital Dysplasia
Heart-Hand Syndrome	Atrio-Digital Syndrome
Cardiac-Limb Syndrome	Heart-Hand Syndrome, Type 1
Ventriculo-Radial Syndrome	Hos1
Heart Hand Syndrome	Atrio Digital Syndrome
Hos 1	Atriodigital Dysplasia Type 1
Heart-Hand Syndrome Type 1	Holt Oram Syndrome

Tongue Disease

Abnormality Of The Tongue	Tongue Diseases
Tongue Disorders	Disorder Of Tongue
Glossopathy	Unspecified Condition Of The Tongue

Branchiooculofacial Syndrome

Branchio-Oculo-Facial Syndrome	BOFS
Bof Syndrome	Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome
Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome	Branchial Clefts With Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, And Premature Aging
Branchial Clefts With Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct And Premature Aging	Bofs Syndrome
Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome

Tooth Agenesis

Oligodontia	Hypodontia
Selective Tooth Agenesis	Tooth Agenesis, Selective
Familial Tooth Agenesis	Anodontia
Congenital Absence Of One Tooth

Stickler Syndrome

Arthroophthalmopathy	Hereditary Arthro-Ophthalmo-Dystrophy
Hereditary Arthro-Ophthalmopathy	Stickler Dysplasia
Hereditary Progressive Arthroophthalmopathy	Stickler Syndrome, Type 1

Kallmann Syndrome

Hypogonadism With Anosmia	Kallman'S Syndrome
Anosmic Hypogonadism	Anosmic Idiopathic Hypogonadotropic Hypogonadism
Hypogonadotropic Hypogonadism And Anosmia	Hypogonadotropic Hypogonadism-Anosmia Syndrome
Olfacto-Genital Pathological Sequence	Familial Hypogonadism With Anosmia
Kallman Syndrome	Dysplasia Olfactogenitalis Of De Morsier
Kallmann'S Syndrome	Congenital Hypogonadotropic Hypogonadism With Anosmia

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS14278	TBX22 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	TBX22	VGNC	VGNC:66006
Mus musculus	TBX22	MGD	MGI:2389465
Bos taurus	TBX22	VGNC	VGNC:35669
Rattus norvegicus	TBX22	RGD	RGD:1589764
Macaca mulatta	TBX22	VGNC	VGNC:78272

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