TBX15

Protein identityUniProt · HPA

UniProt accession

Q96SF7

Gene

TBX15

Ensembl

ENSG00000092607

Chromosome

1

Canonical length

602 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Centrosome

OverviewNCBI 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 are associated with Cousin syndrome.[provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

602 residues, UniProt reviewed canonical sequence.

>Q96SF7|TBX15
     1  MSERRRSAVA LSSRAHAFSV EALIGSNKKR KLRDWEEKGL DLSMEALSPA GPLGDTEDAA
    61  AHGLEPHPDS EQSTGSDSEV LTERTSCSFS THTDLASGAA GPVPAAMSSM EEIQVELQCA
   121  DLWKRFHDIG TEMIITKAGR RMFPAMRVKI TGLDPHQQYY IAMDIVPVDN KRYRYVYHSS
   181  KWMVAGNADS PVPPRVYIHP DSLASGDTWM RQVVSFDKLK LTNNELDDQG HIILHSMHKY
   241  QPRVHVIRKD FSSDLSPTKP VPVGDGVKTF NFPETVFTTV TAYQNQQITR LKIDRNPFAK
   301  GFRDSGRNRT GLEAIMETYA FWRPPVRTLT FEDFTTMQKQ QGGSTGTSPT TSSTGTPSPS
   361  ASSHLLSPSC SPPTFHLAPN TFNVGCRESQ LCNLNLSDYP PCARSNMAAL QSYPGLSDSG
   421  YNRLQSGTTS ATQPSETFMP QRTPSLISGI PTPPSLPGNS KMEAYGGQLG SFPTSQFQYV
   481  MQAGNAASSS SSPHMFGGSH MQQSSYNAFS LHNPYNLYGY NFPTSPRLAA SPEKLSASQS
   541  TLLCSSPSNG AFGERQYLPS GMEHSMHMIS PSPNNQQATN TCDGRQYGAV PGSSSQMSVH
   601  MV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TBX15 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.57

Highest tissue expression

125 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TBX15.

Disease | AllUniProt

Conditions TBX15 is implicated in, by any mechanism.

• Cousin syndrome (COUSS) MIM:260660

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 243 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Pelviscapular dysplasia

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.44

gnomAD pLI

0.66

gnomAD missense Z

0.99

DepMap mean gene effect

-0.14

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell fate specification
• embryonic cranial skeleton morphogenesis
• positive regulation of DNA-templated transcription
• regulation of transcription by RNA polymerase II

Molecular functions

• DNA-binding transcription factor activity, RNA polymerase II-specific
• DNA-binding transcription repressor activity, RNA polymerase II-specific
• protein homodimerization activity
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• nucleus
• RNA polymerase II transcription repressor complex

Protein domainsUniProt · Pfam · InterPro

• T-box transcription factor
• p53-like transcription factor, DNA-binding domain superfamily
• Transcription factor, T-box, conserved site
• T-box superfamily
• T-box transcription factor, DNA-binding domain
• T-box

KeywordsUniProt

• DNA-binding
• Nucleus
• Phosphoprotein
• Transcription
• Transcription regulation