TBX22 (T-box transcription factor 22)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
50945
Gene name Gene Name - the full gene name approved by the HGNC.
T-box transcription factor 22
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TBX22
Synonyms (NCBI Gene) Gene synonyms aliases
ABERS, CLPA, CPX, TBXX, dJ795G23.1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ABERS, CPX
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(16)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 17846996
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 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300307 11600 ENSG00000122145
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (9)
Causal
Disease term Disease name dbSNP ID References
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Cleft palate with ankyloglossia Cleft Palate with Ankyloglossia rs1602411954, rs104894943, rs104894944, rs1602410916, rs104894945, rs104894946, rs1602410858, rs28935177, rs1602414282
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Ankyloglossia cleft palate with or without ankyloglossia, X-linked GenCC
Show/Hide Text Mining Associations (14)
Associations from Text Mining
Disease Name Relationship Type References
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