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	50945
Gene name	T-box transcription factor 22
Gene symbol	TBX22
Synonyms (NCBI Gene)	ABERSCLPACPXTBXXdJ795G23.1
Chromosome	X
Chromosome location	Xq21.1
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 assoc

Show/Hide all (11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28935177	A>T	Pathogenic	Coding sequence variant, missense variant
rs104894943	C>T	Pathogenic	Coding sequence variant, missense variant
rs104894944	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104894945	G>C,T	Pathogenic	Stop gained, missense variant, upstream transcript variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs104894946	T>C	Pathogenic	Coding sequence variant, missense variant
rs200060292	T>A	Likely-pathogenic, pathogenic	Intron variant
rs1555993323	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1602410858	->GCT	Pathogenic	Coding sequence variant, inframe insertion
rs1602410916	G>A	Pathogenic	Splice donor variant
rs1602411954	G>C	Pathogenic	Splice donor variant
rs1602414282	G>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (14)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018409	hsa-miR-335-5p	Microarray	18185580
MIRT022915	hsa-miR-124-3p	Microarray	18668037
MIRT1415147	hsa-miR-1303	CLIP-seq
MIRT1415148	hsa-miR-340	CLIP-seq
MIRT1415149	hsa-miR-3659	CLIP-seq
MIRT1415150	hsa-miR-433	CLIP-seq
MIRT1415151	hsa-miR-4528	CLIP-seq
MIRT1415152	hsa-miR-4464	CLIP-seq
MIRT1415153	hsa-miR-4748	CLIP-seq
MIRT1415154	hsa-miR-486-5p	CLIP-seq
MIRT1415155	hsa-miR-489	CLIP-seq
MIRT1415156	hsa-miR-514	CLIP-seq
MIRT1415157	hsa-miR-514b-3p	CLIP-seq
MIRT1415158	hsa-miR-579	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	17846996
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	17846996
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
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:0001708	Process	Cell fate specification	IBA
GO:0003677	Function	DNA binding	IDA	17846996
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	17846996
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	17846996
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

MIM	HGNC	e!Ensembl
300307	11600	ENSG00000122145

Q9Y458

Protein name

T-box transcription factor TBX22 (T-box protein 22)

Protein function

Probable transcriptional regulator involved in developmental processes. This is major determinant crucial to palatogenesis.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00907	T-box	94 → 283	T-box	Domain

Tissue specificity

TISSUE SPECIFICITY: Seems to be expressed at a low level.

Sequence

MALSSRARAFSVEALVGRPSKRKLQDPIQAEQPELREKKGGEEEEERRSSAAGKSEPLEK
QPKTEPSTSASSGCGSDSGYGNSSESLEEKDIQMELQGSELWKRFHDIGTEMIITKAGRR
MFPSVRVKVKGLDPGKQYHVAIDVVPVDSKRYRYVYHSSQWMVAGNTDHLCIIPRFYVHP
DSPCSGETWMRQIISFDRMKLTNNEMDDKGHIILQSMHKYKPRVHVIEQGSSVDLSQIQS
LPTEGVKTFSFKETEFTTVTAYQNQQITKLKIERNPFAKGFRDTGRNRGVLDGLLETYPW
RPSFTLDFKTFGADTQSGSSGSSPVTSSGGAPSPLNSLLSPLCFSPMFHLPTSSLGMPCP
EAYLPNVNLPLCYKICPTNFWQQQPLVLPAPERLASSNSSQSLAPLMMEVPMLSSLGVTN
SKSGSSEDSSDQYLQAPNSTNQMLYGLQSPGNIFLPNSITPEALSCSFHPSYDFYRYNFS
MPSRLISGSNHLKVNDDSQVSFGEGKCNHVHWYPAINHYL

Sequence length

520

Interactions

View interactions

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cleft palate with ankyloglossia	Pathogenic; Likely pathogenic	rs1602411954, rs104894943, rs104894944, rs1602410916, rs2519860231, rs104894945, rs104894946, rs1602410858, rs28935177	RCV000012081 RCV000012082 RCV000012083 RCV000012084 RCV000012085 RCV000012086 RCV000012087 RCV000012088 RCV000012089
Cleft palate with or without ankyloglossia, X-linked	Likely pathogenic; Pathogenic	rs104894945, rs1602414282, rs2519860240	RCV006249555 RCV000012090 RCV003990503

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abruzzo-Erickson syndrome	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs368136178, rs151121450, rs200060292	RCV002488629 RCV002488834 RCV000043504
Cleft palate	Uncertain significance	rs1156605251	RCV000626748
Mendelian syndromes with cleft lip/palate	Uncertain significance	rs761750322	RCV003315099
Orofacial cleft	Uncertain significance	rs1156605251	RCV000626748
TBX22-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	rs2519853486, rs1385589233, rs201942455, rs1249999407, rs761214500, rs34244923, rs137881052, rs185298778, rs55760411, rs35602350, rs150811689, rs373817537	RCV003394455 RCV003397633 RCV003894702 RCV003916900 RCV003963950 RCV003972551 RCV003922659 RCV003922658 RCV003925529 RCV003940529 RCV003932881 RCV003960481 RCV003928637

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Ankyloglossia	Associate	21248356
Anodontia	Associate	21248356
Cleft Lip	Associate	21248356, 28877219
Cleft Palate	Associate	21248356, 26323392, 36901988
Cleft palate X linked	Associate	21248356
Colorectal Neoplasms	Associate	20126641
Cystic Fibrosis	Inhibit	10656877
Growth Disorders	Associate	26323392
Kidney Diseases	Associate	20126641
Orofacial Cleft 1	Associate	36901693
Otofaciocervical Syndrome	Associate	36901693
Van der Woude syndrome	Associate	36901693
Van der Woude syndrome 2	Associate	36901693
Warburg Sjo Fledelius syndrome	Associate	21248356

TBX22 (T-box transcription factor 22)