Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6913
Gene name Gene Name - the full gene name approved by the HGNC.
T-box transcription factor 15
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TBX15
Synonyms (NCBI Gene) Gene synonyms aliases
TBX14
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
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
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604127 11594 ENSG00000092607
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Hydrocephalus Hydrocephalus rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Macrocephaly Macrocephaly rs786204854, rs764333096, rs1557739557
Microphthalmos Microphthalmos rs794726862, rs1329285216
Unknown
Disease term Disease name Evidence References Source
Ambiguous genitalia Ambiguous genitalia, female ClinVar
Associations from Text Mining
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