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Aliases for TBX15 Gene

Aliases for TBX15 Gene

  • T-Box 15 2 3 5
  • T-Box Transcription Factor TBX14 3 4
  • T-Box Protein 14 3 4
  • T-Box Protein 15 3 4
  • T-Box 14 2 3
  • TBX14 3 4
  • T-Box Transcription Factor TBX15 3

External Ids for TBX15 Gene

Previous HGNC Symbols for TBX15 Gene

  • TBX14

Previous GeneCards Identifiers for TBX15 Gene

  • GC01U990165
  • GC01M118264
  • GC01M118572
  • GC01M118772
  • GC01M119137
  • GC01M119227
  • GC01M119425
  • GC01M117285

Summaries for TBX15 Gene

Entrez Gene Summary for TBX15 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]

GeneCards Summary for TBX15 Gene

TBX15 (T-Box 15) is a Protein Coding gene. Diseases associated with TBX15 include Cousin Syndrome and Acromegaloid Facial Appearance Syndrome. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is TBX18.

UniProtKB/Swiss-Prot for TBX15 Gene

  • 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).

Additional gene information for TBX15 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBX15 Gene

Genomics for TBX15 Gene

GeneHancer (GH) Regulatory Elements for TBX15 Gene

Promoters and enhancers for TBX15 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I118981 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 555.7 +3.3 3309 9 BRD4 CTCF SUZ12 MAX POLR2A VEZF1 EZH2 ZNF197 L3MBTL2 NRF1 TBX15 WARS2 LOC105378933 LOC101929147 GC01P118983 GC01P118982
GH01I118990 Enhancer 0.5 ENCODE dbSUPER 550.8 -1.4 -1397 0.2 EZH2 TBX15 GC01P118983 GC01P118982 ENSG00000239216
GH01I119397 Enhancer 0.4 ENCODE 4.4 -408.6 -408575 1.6 FOXA2 ZNF740 HNF4A HAO2 HAO2-IT1 TBX15 HSD3B2 GC01P118983
GH01I118958 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 0.3 +29.1 29052 3.8 PKNOX1 FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 YY1 ATF7 RUNX3 WARS2 LOC105378933 LOC101929147 GC01M118978 TBX15 PIR34052
GH01I118963 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 0.3 +25.8 25824 1.3 PKNOX1 FOXA2 MLX ARNT ARID4B DMAP1 YY1 ZNF766 SP5 NFYC LOC101929147 WARS2 GC01M118978 TBX15 PIR34052
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TBX15 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TBX15 gene promoter:

Genomic Locations for TBX15 Gene

Genomic Locations for TBX15 Gene
chr1:118,883,043-118,989,556
(GRCh38/hg38)
Size:
106,514 bases
Orientation:
Minus strand
chr1:119,425,666-119,532,179
(GRCh37/hg19)

Genomic View for TBX15 Gene

Genes around TBX15 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBX15 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBX15 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBX15 Gene

Proteins for TBX15 Gene

  • Protein details for TBX15 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96SF7-TBX15_HUMAN
    Recommended name:
    T-box transcription factor TBX15
    Protein Accession:
    Q96SF7
    Secondary Accessions:
    • Q08E76
    • Q5JT54
    • Q5T9S7

    Protein attributes for TBX15 Gene

    Size:
    602 amino acids
    Molecular mass:
    65757 Da
    Quaternary structure:
    • Can form a heterodimer with TBX18.

    Alternative splice isoforms for TBX15 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBX15 Gene

Post-translational modifications for TBX15 Gene

No Post-translational modifications

Other Protein References for TBX15 Gene

No data available for DME Specific Peptides for TBX15 Gene

Domains & Families for TBX15 Gene

Gene Families for TBX15 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for TBX15 Gene

Suggested Antigen Peptide Sequences for TBX15 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TBX15: view

No data available for UniProtKB/Swiss-Prot for TBX15 Gene

Function for TBX15 Gene

Molecular function for TBX15 Gene

GENATLAS Biochemistry:
murine T-box gene Tbx15 (T,brachyury) homolog,expressed in the craniofacial region and in the developing limbs,maybe a candidate gene for acromegaloid facial appearance syndrome
UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for TBX15 Gene

Gene Ontology (GO) - Molecular Function for TBX15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IEA --
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0001106 RNA polymerase II transcription corepressor activity IEA --
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with TBX15: view
genes like me logo Genes that share phenotypes with TBX15: view

Human Phenotype Ontology for TBX15 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TBX15 Gene

MGI Knock Outs for TBX15:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TBX15 Gene

Localization for TBX15 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBX15 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBX15 gene
Compartment Confidence
nucleus 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TBX15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0070722 Tle3-Aes complex IEA --
genes like me logo Genes that share ontologies with TBX15: view

Pathways & Interactions for TBX15 Gene

SuperPathways for TBX15 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TBX15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0048701 embryonic cranial skeleton morphogenesis IEA --
GO:0048704 embryonic skeletal system morphogenesis IEA --
genes like me logo Genes that share ontologies with TBX15: view

No data available for Pathways by source and SIGNOR curated interactions for TBX15 Gene

Drugs & Compounds for TBX15 Gene

No Compound Related Data Available

Transcripts for TBX15 Gene

Unigene Clusters for TBX15 Gene

T-box 15:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBX15 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1: -
SP2:

Relevant External Links for TBX15 Gene

GeneLoc Exon Structure for
TBX15
ECgene alternative splicing isoforms for
TBX15

Expression for TBX15 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TBX15 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TBX15 Gene

This gene is overexpressed in Muscle - Skeletal (x23.6), Artery - Tibial (x5.3), and Adipose - Subcutaneous (x5.2).

Protein differential expression in normal tissues from HIPED for TBX15 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TBX15 Gene



Protein tissue co-expression partners for TBX15 Gene

NURSA nuclear receptor signaling pathways regulating expression of TBX15 Gene:

TBX15

SOURCE GeneReport for Unigene cluster for TBX15 Gene:

Hs.146196

Phenotype-based relationships between genes and organs from Gene ORGANizer for TBX15 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • chin
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • pelvis
  • penis
  • testicle
  • ureter
  • urethra
  • vulva
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with TBX15: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for TBX15 Gene

Orthologs for TBX15 Gene

This gene was present in the common ancestor of animals.

Orthologs for TBX15 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBX15 33 34
  • 99.6 (n)
cow
(Bos Taurus)
Mammalia TBX15 33 34
  • 93.48 (n)
dog
(Canis familiaris)
Mammalia TBX15 33 34
  • 93.08 (n)
mouse
(Mus musculus)
Mammalia Tbx15 33 16 34
  • 93.01 (n)
rat
(Rattus norvegicus)
Mammalia LOC500213 33
  • 92.29 (n)
oppossum
(Monodelphis domestica)
Mammalia TBX15 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBX15 33 34
  • 85.12 (n)
lizard
(Anolis carolinensis)
Reptilia TBX15 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbx15 33
  • 78.11 (n)
zebrafish
(Danio rerio)
Actinopterygii tbx15 33 34
  • 75.75 (n)
worm
(Caenorhabditis elegans)
Secernentea mls-1 34
  • 46 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 21 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14222 33
Species where no ortholog for TBX15 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TBX15 Gene

ENSEMBL:
Gene Tree for TBX15 (if available)
TreeFam:
Gene Tree for TBX15 (if available)

Paralogs for TBX15 Gene

Paralogs for TBX15 Gene

(8) SIMAP similar genes for TBX15 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with TBX15: view

Variants for TBX15 Gene

Sequence variations from dbSNP and Humsavar for TBX15 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs141002143 uncertain-significance, not specified 118,899,072(-) C/T coding_sequence_variant, missense_variant
rs144291418 uncertain-significance, not specified 118,885,216(-) C/T coding_sequence_variant, missense_variant
rs200564235 uncertain-significance, not specified 118,884,813(-) T/C coding_sequence_variant, synonymous_variant
rs1000026876 -- 118,989,462(-) GG/G 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000057534 -- 118,948,407(-) AAAA/AAA genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TBX15 Gene

Variant ID Type Subtype PubMed ID
nsv997707 CNV gain 25217958
nsv831181 CNV gain 17160897
nsv524681 CNV gain 19592680
nsv506958 OTHER sequence alteration 20534489
nsv160473 CNV deletion 16902084
esv3587338 CNV loss 21293372
esv3587336 CNV loss 21293372
esv2675423 CNV deletion 23128226
esv25417 CNV loss 19812545

Variation tolerance for TBX15 Gene

Residual Variation Intolerance Score: 49.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.63; 78.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TBX15 Gene

Human Gene Mutation Database (HGMD)
TBX15
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBX15

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBX15 Gene

Disorders for TBX15 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TBX15 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cousin syndrome
  • craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature
acromegaloid facial appearance syndrome
  • afa syndrome
ulnar-mammary syndrome
  • ums
- elite association - COSMIC cancer census association via MalaCards
Search TBX15 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TBX15_HUMAN
  • Cousin syndrome (COUSS) [MIM:260660]: Defined as pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphy (frontal bossing, hypertelorism, narrow palpebral fissures, deep set globes, strabismus, low-set posteriory rotated and unusually formed external ears, dysplasia of conchae, small chin, short neck with redundant skin folds, and a low hairline). Intelligence may vary from normal to moderately impaired. Radiographic features comprise aplasia of the body of the scapula, hypoplasia of the iliac bone, humeroradial synosthosis, dislocation of the femoral heads, and moderate brachydactyly. {ECO:0000269 PubMed:19068278}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TBX15

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TBX15: view

No data available for Genatlas for TBX15 Gene

Publications for TBX15 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  2. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 44 58
  3. Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. (PMID: 20935629) Heid IM … Lindgren CM (Nature genetics 2010) 3 44 58
  4. TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome. (PMID: 19068278) Lausch E … Superti-Furga A (American journal of human genetics 2008) 3 4 58
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58

Products for TBX15 Gene

Sources for TBX15 Gene

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