TBX19 - T-box transcription factor 19 Gene

Also Known as TPIT; TBS19; dJ747L4.1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9095

About TBX19

Cytogenetic location: 1q24.2 Genomic coordinates (GRCh38): 1:168,280,877-168,314,426 (from NCBI)

This gene has 4 transcripts (splice variants), 214 orthologues, 16 paralogues and is associated with 2 phenotypes. Ubiquitous expression in endometrium (RPKM 1.9), spleen (RPKM 1.2) and 24 other tissues.

Summary

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene were found in patients with isolated deficiency of pituitary POMC-derived ACTH, suggesting an essential role for this gene in differentiation of the pituitary POMC lineage. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure. [provided by RefSeq, Jul 2008]

TBX19 Products (1)

mRNA	Protein	Name
NM_005149.3	NP_005140.1	T-box transcription factor TBX19

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	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

TBX19 Protein Structure

T-box

0
100
200
300
400
448 a.a.

Protein Preferred Names	Protein Names
T-box transcription factor TBX19	T-box 19

TBX19 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TBX19	O60806	GCM2	Homo sapiens	O75603	Validated Y2H	32296183
Intra	TBX19	O60806	VENTX	Homo sapiens	O95231	Validated Y2H	32296183
Intra	TBX19	O60806	NEDD9	Homo sapiens	Q14511-2	Validated Y2H	32296183
Intra	TBX19	O60806	ZIC1	Homo sapiens	Q15915	Validated Y2H	32296183
Intra	TBX19	O60806	PRR35	Homo sapiens	P0CG20	Validated Y2H	32296183
Intra	TBX19	O60806	IRX6	Homo sapiens	P78412	Validated Y2H	32296183
Intra	TBX19	O60806	HOXC8	Homo sapiens	P31273	Validated Y2H	32296183
Intra	TBX19	O60806	LONRF1	Homo sapiens	Q17RB8	Validated Y2H	32296183
Intra	TBX19	O60806	TBX6	Homo sapiens	O95947	Validated Y2H	32296183
Intra	TBX19	O60806	TFG	Homo sapiens	Q92734	Validated Y2H	32296183
Intra	TBX19	O60806	RAB2B	Homo sapiens	Q8WUD1	Validated Y2H	32296183
Intra	TBX19	O60806	PITX1	Homo sapiens	P78337	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Acth Deficiency, Isolated	Adrenocorticotropic Hormone Deficiency IAD Congenital Isolated Acth Deficiency Isolated Acth Deficiency Isolated Adrenocorticotropic Hormone Deficiency Adrenocorticotropic Hormone Deficiency Adrenocorticotropic Hormone [Acth] Deficiency Secondary Adrenocortical Insufficiency
Pituitary Cancer	Pituitary Carcinoma Malignant Pituitary Neoplasm Malignant Tumor Of Pituitary Gland Neoplasm Of Pituitary Gland Pituitary Gland Cancer Pituitary Gland Neoplasm Pituitary Neoplasm Carcinoma Of The Pituitary Gland Neoplasm Of The Pituitary Gland Pituitary Neoplasms Malignant Neoplasm Of Pituitary Gland
Tsh Producing Pituitary Tumor	Thyrotroph Adenoma Tsh Producing Pituitary Tumour Tsh Secreting Adenoma Of The Pituitary Tsh Secreting Tumor Of Pituitary Tsh Secreting Tumour Of Pituitary Tsh-Secreting Pituitary Adenoma Pituitary Thyrotrophic Adenoma Tsh-Oma Thyroid Stimulating Hormone-Secreting Pituitary Adenoma Thyroid Stimulating Hormone-Producing Pituitary Tumor
Acth-Secreting Pituitary Adenoma	Acth-Producing Pituitary Adenoma Corticotroph Adenoma Corticotropinoma Pituitary-Dependent Cushing'S Disease Adrenal Gland Hyperfunction Cushing Syndrome
Hypopituitarism	Pituitary Hypofunction Pituitary Insufficiency Pituitary Hormone Deficiency Subpituitarism Hypophyseal Dystrophy Hypohypophysism Anterior Pituitary Insufficiency Deficient Secretion Of One Or More Pituitary Hormones Hypopituitarism Syndrome Pituitary Deficiency Pituitary Failure Pituitary Insufficiency Nos Anterior Pituitary Hypofunction Deficient Secretion Of All Pituitary Hormones Hypopituitary Dwarfism Hyposomatotropic Dwarfism Hypophyseal Dwarfism Hypopituitary Cachexia Hypophyseal Short Stature Panhypopituitarism Syndrome Pituitary Cachexia Juvenile Hypopituitarism Pituitary Dwarfism Pituitary Gland Hypofunction Primary Hypopituitarism Secondary Hypogonadism Prepubertal Panhypopituitarism Prepubertal Dwarfism Postpartum Panhypopituitary Syndrome Postpartum Hypopituitarism Pituitary Short Stature Pituitary Infantilism Pituitary Hypogonadism Pituitary Hypoadrenocorticism
Ectopic Cushing Syndrome	Cushing Syndrome Due To Ectopic Acth Secretion Ectopic Acth Secreting Tumor Adrenocorticotropic Hormone Secretion Syndrome Occult Ectopic Acth Secretion Paraneoplastic Cushing Syndrome
Functioning Pituitary Adenoma	Secretory Adenoma Of The Pituitary Gland Endocrine Active Pituitary Adenoma Secreting Pituitary Adenoma Pituitary Adenoma, Functioning
Papillary Craniopharyngioma	Craniopharyngioma, Papillary Papillary Rathke'S Pouch Tumor Craniopharyngioma Papillary
Hypothalamic Neoplasm	Hypothalamic Neoplasms Neoplasm Of The Hypothalamus Tumor Of Hypothalamus
Diencephalic Neoplasm	Malignant Diencephalic Neoplasm Malignant Diencephalic Tumor Tumor Of Diencephalon
Nelson Syndrome	Nelson'S Syndrome Dermal Ridges Ridges-Off-The-End Syndrome Postadrenalectomy Cushing Syndrome
Ulnar-Mammary Syndrome	Schinzel Syndrome UMS Pallister Ulnar-Mammary Syndrome Ulnar-Mammary Syndrome Of Pallister
Pituitary Infarct	Pituitary Infarction
Adamantinous Craniopharyngioma	Adamantinous Rathke'S Pouch Tumor Craniopharyngioma, Adamantinomatous Adamantinomatous Craniopharyngioma
Pituitary Gland Disease	Pituitary Diseases Pituitary Dysfunction Pituitary Disease Pituitary Deficiency Pituitary Disorders
Growth Hormone Secreting Pituitary Adenoma	Somatotroph Adenoma Growth Hormone-Secreting Pituitary Adenoma Growth Hormone Producing Adenoma Of The Pituitary Growth Hormone Secreting Adenoma Of Pituitary
Gangliocytoma	Ganglioneuroma Gangliocytoma Of Central Nervous System
Urethral Diverticulum	Urethral Sacculation
Septooptic Dysplasia	Septo-Optic Dysplasia De Morsier Syndrome Growth Hormone Deficiency With Pituitary Anomalies SOD Pituitary Hormone Deficiency, Combined, 5 Septo-Optic Dysplasia Spectrum Septo-Optic Dysplasia With Growth Hormone Deficiency Pituitary Hormone Deficiency, Combined 5 Hypopituitarism And Septooptic 'Dysplasia' GHDPA CPHD5 Dysplasia, Septo-Optic Kallmann Syndrome
Adrenal Gland Disease	Adrenal Gland Diseases Adrenal Gland Disorders
Endocrine Organ Benign Neoplasm

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14274	TBX19 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21780	Tbx19 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28297	Tbx19 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TBX19	RGD	RGD:1310145
Macaca mulatta	TBX19	VGNC	VGNC:106514
Bos taurus	TBX19	VGNC	VGNC:35665
Felis catus	TBX19	VGNC	VGNC:66002
Canis familiaris	TBX19	VGNC	VGNC:47170
Mus musculus	TBX19	MGD	MGI:1891158
Others	TBX19	NCBI