Aliases for TBX15 Gene
Aliases for TBX15 Gene
External Ids for TBX15 Gene
- HGNC: 11594
- Entrez Gene: 6913
- Ensembl: ENSG00000092607
- OMIM: 604127
- UniProtKB: Q96SF7
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
-
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
- Monarch Initiative
- Search for TBX15 at DataMed
- Search for TBX15 at HumanCyc
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
- Top Transcription factor binding sites by QIAGEN in the TBX15 gene promoter:
-
- NRSF form 1
- NRSF form 2
- C/EBPalpha
- IRF-7A
- Spz1
- AREB6
- CHOP-10
- Hlf
- p53
- Sox9
Regulatory Element Products
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)
- Size:
- 106,514 bases
- Orientation:
- Minus strand
Genomic View for TBX15 Gene
- Cytogenetic band:
-
- 1p12 by Entrez Gene
- 1p12 by HGNC
- 1p12 by Ensembl
Genomic Neighborhood
• Exon Structure
• Gene 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
- Q08E76
- Q5JT54
- Q5T9S7
Protein attributes for TBX15 Gene
- Size:
- 602 amino acids
- Molecular mass:
- 65757 Da
- Quaternary structure:
-
- Can form a heterodimer with TBX18.
Protein Expression for TBX15 Gene
Post-translational modifications for TBX15 Gene
Other Protein References for TBX15 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for TBX15
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-
Abcam antibodies for TBX15
- Invitrogen Antibodies for TBX15
- Search GeneTex for Antibodies for TBX15
Protein Products
-
OriGene Purified Proteins for TBX15
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- antibodies-online: Search results for 6 available TBX15 Proteins ranked by validation data
- Compare Top TBX15 Proteins
-
Quality Products:
- Search GeneTex for Proteins for TBX15
Assay Products
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
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for TBX15 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for TBX15 Gene
Function for TBX15 Gene
Molecular function for TBX15 Gene
- 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).
- 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
Phenotypes From GWAS Catalog 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:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding | ISM | 19274049 |
| GO:0001078 | transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
| GO:0003677 | DNA binding | IEA | -- |
Phenotypes for TBX15 Gene
- MGI mutant phenotypes for TBX15:
-
inferred from 4 alleles
- limbs/digits/tail phenotype
- pigmentation phenotype
- vision/eye phenotype
- behavior/neurological phenotype
- integument phenotype
- mortality/aging
- muscle phenotype
- craniofacial phenotype
- reproductive system phenotype
- skeleton phenotype
- embryo phenotype
- hearing/vestibular/ear phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for TBX15:
Animal Models for TBX15 Gene
- MGI Knock Outs for TBX15:
-
- Tbx15 Tbx15<tm1Akis>
Animal Model Products
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-
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-
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-
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-
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miRNA for TBX15 Gene
- miRTarBase miRNAs that target TBX15
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- Sino Biological Human cDNA Clone for TBX15
- VectorBuilder custom plasmid, inducible vectors for TBX15
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TBX15
- genomics-online: cdna clones - Search results for available TBX15 gene related products
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- Applied Biological Materials Clones for TBX15
-
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Cell Line Products
-
Horizon Cell Lines for TBX15
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
- Nucleus.
- Centrosome (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0070722 | Tle3-Aes complex | IEA | -- |
Pathways & Interactions for TBX15 Gene
Interacting Proteins 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:0006357 | regulation of transcription by RNA polymerase II | IEA | -- |
| GO:0048701 | embryonic cranial skeleton morphogenesis | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for TBX15 Gene
Transcripts for TBX15 Gene
mRNA/cDNA for TBX15 Gene
- (4) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (27) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000207157 3492 bps (uc001ehl.2)
- ENST00000449873 2678 bps (uc057jus.1)
- ENST00000369429 4047 bps (uc057jut.1)
Unigene Clusters for TBX15 Gene
- T-box 15:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for TBX15
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- genomics-online: gRNA clones - Search results for available TBX15 gene related products
- Applied Biological Materials CRISPR for TBX15
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TBX15
- GenScript: Design CRISPR guide RNA sequences for TBX15
miRNA Products
Inhibitory RNA Products
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBX15
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Clone Products
- Sino Biological Human cDNA Clone for TBX15
- VectorBuilder custom plasmid, inducible vectors for TBX15
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TBX15
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TBX15
- genomics-online: cdna clones - Search results for available TBX15 gene related products
- orf clones - Search results for available TBX15 gene related products
- Applied Biological Materials Clones for TBX15
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||
| SP2: |
Expression for TBX15 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Bone (Muscoskeletal System)
-
Dermis (Integumentary System)
- Zigzag Dermal Papilla Cells Dermal Papilla
- Guard Dermal Papilla Cells Dermal Papilla
- Detroit 551
- Paraxial Mesoderm (Gastrulation Derivatives)
- Cartilage (Muscoskeletal System)
-
Hair (Integumentary System)
- Zigzag Dermal Papilla Cells Dermal Papilla
- Guard Dermal Papilla Cells Dermal Papilla
-
Limb (Muscoskeletal System)
- Limb Muscle Progenitor Cells Forelimb Myotome
- Limb Bud
- Adipose (Muscoskeletal System)
- Neural Crest (Gastrulation Derivatives)
-
Inner Cell Mass (Early Embryonic Tissues)
- Inner Cell Mass Cells Inner Cell Mass
-
Brain (Nervous System)
- Mature Endothelial Cells Blood Brain Barrier
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Blood Brain Barrier
-
Skeletal Muscle (Muscoskeletal System)
- Limb Muscle Progenitor Cells Forelimb Myotome
- Fibroblasts
- Lateral Plate Mesoderm (Gastrulation Derivatives)
-
Testis (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for TBX15 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TBX15 Gene
NURSA nuclear receptor signaling pathways regulating expression of TBX15 Gene:
TBX15SOURCE GeneReport for Unigene cluster for TBX15 Gene:
Hs.146196Phenotype-based relationships between genes and organs from Gene ORGANizer for TBX15 Gene
- ectoderm
- endoderm
- mesoderm
- digestive
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
- brain
- cerebellum
- cerebrospinal fluid
- chin
- ear
- eye
- eyelid
- face
- head
- jaw
- mandible
- maxilla
- meninges
- mouth
- nose
- outer ear
- skull
- tongue
- tooth
- chest wall
- clavicle
- lung
- rib
- rib cage
- scapula
- sternum
- kidney
- pelvis
- penis
- testicle
- ureter
- urethra
- vulva
- arm
- digit
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
- hair
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for TBX15
- genomics-online: primer clones - Search results for available TBX15 gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TBX15 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | TBX15 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | TBX15 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Tbx15 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | LOC500213 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | TBX15 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | TBX15 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | TBX15 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | tbx15 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | tbx15 34 33 33 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | mls-1 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany | |
| Cin.14222 33 |
|
||||
| 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for TBX15: view image
Paralogs for TBX15 Gene
Variants 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 |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv25417 | CNV | loss | 19812545 |
| esv2675423 | CNV | deletion | 23128226 |
| esv3587336 | CNV | loss | 21293372 |
| esv3587338 | CNV | loss | 21293372 |
| nsv160473 | CNV | deletion | 16902084 |
| nsv506958 | OTHER | sequence alteration | 20534489 |
| nsv524681 | CNV | gain | 19592680 |
| nsv831181 | CNV | gain | 17160897 |
| nsv997707 | CNV | gain | 25217958 |
Additional Variant Information for TBX15 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBX15 Gene
Disorders for TBX15 Gene
(4) MalaCards diseases for TBX15 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cousin syndrome |
|
|
| acromegaloid facial appearance syndrome |
|
|
| ulnar-mammary syndrome |
|
|
| strabismus |
|
|
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
No data available for Genatlas for TBX15 Gene
Publications for TBX15 Gene
- 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
- 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
- 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
- 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
- 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
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 36 available TBX15 Antibodies ranked by validation data
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Sources for TBX15 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
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