TBX22 - T-box transcription factor 22 Gene

Also Known as CPX; CLPA; TBXX; ABERS; dJ795G23.1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 50945

About 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).

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA binding	IDA IDA: Inferred from direct assay	17846996	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	17846996	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	17846996	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	17846996	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	17846996	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

TBX22 Protein Structure

T-box

0
100
200
300
400
520 a.a.

Protein Preferred Names	Protein Names
T-box transcription factor TBX22	T-box 22

Related Diseases

Diseases	Alias
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

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14278	TBX22 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	TBX22	NCBI