TBX15 - T-box transcription factor 15 Gene

Homo sapiens

Also known as TBX14

Gene ID: 6913 | Gene type: protein coding

About TBX15

Cytogenetic location: 1p12 Genomic coordinates (GRCh38): 1:118,883,047-118,989,510 (from NCBI)

This gene has 3 transcripts (splice variants), 233 orthologues, 16 paralogues and is associated with 3 phenotypes. Biased expression in fat (RPKM 11.5), liver (RPKM 10.7) and 4 other tissues.

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

TBX15 Products(2)

mRNA	Protein	Name
NM_001330677.2	NP_001317606.1	T-box transcription factor TBX15 isoform 1
NM_152380.3	NP_689593.2	T-box transcription factor TBX15 isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TBX15 Protein Structure

T-box

0
100
200
300
400
500
602 a.a.

Protein Preferred Names

Protein Names

T-box transcription factor TBX15

T-box 14

Related Diseases

Diseases

Alias

Cousin Syndrome

Pelviscapular Dysplasia	Craniofacial Dysmorphism, Hypoplasia Of Scapula And Pelvis, And Short Stature
Craniofacial Dysmorphism, Hypoplasia Of Scapula And Pelvis And Short Stature	Familial Pelvis-Scapular Dysplasia
COUSS

Acromegaloid Facial Appearance Syndrome

Afa Syndrome

Thick Lips And Oral Mucosa

Ulnar-Mammary Syndrome

Schinzel Syndrome	UMS
Pallister Ulnar-Mammary Syndrome	Ulnar-Mammary Syndrome Of Pallister

Cleft Palate With Or Without Ankyloglossia, X-Linked

Cleft Palate With Ankyloglossia	CPX
X-Linked Cleft Palate And Ankyloglossia	X-Linked Cleft Palate With Or Without Ankyloglossia
X-Linked Cleft Palate	X-Linked Cleft Palate With Ankyloglossia
Cleft Palate, With/Without Ankyloglossia, X-Linked

Robinow Syndrome, Autosomal Recessive 1

Robinow Syndrome, Autosomal Recessive	Autosomal Recessive Robinow Syndrome
Covesdem Syndrome	RRS1
Costovertebral Segmentation Defect-Mesomelia Syndrome	Rrs
Costovertebral Segmentation Defect With Mesomelia, Formerly	Covesdem Syndrome, Formerly
Costovertebral Segmentation Defect With Mesomelia	Robinow Syndrome Autosomal Recessive With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals
Robinow Syndrome Autosomal Recessive With Brachy-Syn-Polydactyly	Robinow Syndrome, Autosomal Recessive, With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals
Robinow Syndrome, Autosomal Recessive, With Brachy-Syn-Polydactyly	Robinow, Autosomal Recessive Syndrome, Type 1

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

Brachydactyly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14272	TBX15 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	TBX15	VGNC	VGNC:55686
Felis catus	TBX15	VGNC	VGNC:107673
Macaca mulatta	TBX15	VGNC	VGNC:78268
Mus musculus	TBX15	MGD	MGI:1277234
Rattus norvegicus	TBX15	RGD	RGD:1308094
Canis familiaris	TBX15	VGNC	VGNC:47169

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