TBX19 - T-box transcription factor 19 Gene

Homo sapiens

Also known as TPIT; TBS19; dJ747L4.1

Gene ID: 9095 | Gene type: protein coding

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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14274	TBX19 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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