Gene Gene information from NCBI Gene database.
Entrez ID 6913
Gene name T-box transcription factor 15
Gene symbol TBX15
Synonyms (NCBI Gene)
TBX14
Chromosome 1
Chromosome location 1p12
Summary This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding domain. Mutations in this gene
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs200564235 T>C Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs1571155763 G>- Likely-pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
310
miRTarBase ID miRNA Experiments Reference
MIRT017037 hsa-miR-335-5p Microarray 18185580
MIRT496556 hsa-miR-5582-5p PAR-CLIP 22291592
MIRT496555 hsa-miR-3622a-5p PAR-CLIP 22291592
MIRT496554 hsa-miR-4301 PAR-CLIP 22291592
MIRT496553 hsa-miR-4286 PAR-CLIP 22291592
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin IBA
GO:0000785 Component Chromatin ISA
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604127 11594 ENSG00000092607
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96SF7
Protein name T-box transcription factor TBX15 (T-box protein 15) (T-box transcription factor TBX14) (T-box protein 14)
Protein function Probable transcriptional regulator involved in the development of the skeleton of the limb, vertebral column and head. Acts by controlling the number of mesenchymal precursor cells and chondrocytes (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00907 T-box 115 304 T-box Domain
Sequence
MSERRRSAVALSSRAHAFSVEALIGSNKKRKLRDWEEKGLDLSMEALSPAGPLGDTEDAA
AHGLEPHPDSEQSTGSDSEVLTERTSCSFSTHTDLASGAAGPVPAAMSSMEEIQVELQCA
DLWKRFHDIGTEMIITKAGRRMFPAMRVKITGLDPHQQYYIAMDIVPVDNKRYRYVYHSS
KWMVAGNADSPVPPRVYIHPDSLASGDTWMRQVVSFDKLKLTNNELDDQGHIILHSMHKY
QPRVHVIRKDFSSDLSPTKPVPVGDGVKTFNFPETVFTTVTAYQNQQITRLKIDRNPFAK
GFRD
SGRNRTGLEAIMETYAFWRPPVRTLTFEDFTTMQKQQGGSTGTSPTTSSTGTPSPS
ASSHLLSPSCSPPTFHLAPNTFNVGCRESQLCNLNLSDYPPCARSNMAALQSYPGLSDSG
YNRLQSGTTSATQPSETFMPQRTPSLISGIPTPPSLPGNSKMEAYGGQLGSFPTSQFQYV
MQAGNAASSSSSPHMFGGSHMQQSSYNAFSLHNPYNLYGYNFPTSPRLAASPEKLSASQS
TLLCSSPSNGAFGERQYLPSGMEHSMHMISPSPNNQQATNTCDGRQYGAVPGSSSQMSVH
MV
Sequence length 602
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Pelviscapular dysplasia Pathogenic rs2101422204, rs2101422164 RCV000006178
RCV000006179
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs17022678 RCV005903258
Colon adenocarcinoma Benign rs17022678 RCV005903257
TBX15-related disorder Likely benign; Conflicting classifications of pathogenicity rs141002143, rs144291418, rs542551582, rs541031973, rs576946011, rs559706400, rs1181858807, rs143725585, rs140463861 RCV003977792
RCV003949934
RCV003944388
RCV003926942
RCV003936851
RCV003969425
RCV003966854
RCV004758758
RCV004758755
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 28036274
Carcinogenesis Associate 27327083
Carcinoma Renal Cell Associate 31858538, 33453148
Colorectal Neoplasms Associate 38378070
Cystic Fibrosis Associate 31306149
Esophageal Neoplasms Associate 31527170
Feeding and Eating Disorders Associate 34579086
Fetal Growth Retardation Associate 20962579
Glioma Associate 37328486
Growth Disorders Associate 19068278