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FLASH GENE

Symbol

TBX19

contributors: mct - updated : 25-04-2012

HGNC name	T-box 19
HGNC id	11596

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ACTHD ACTH deficiency, isolated
Location	1q24.2      Physical location : 168.250.277 - 168.283.662
Synonym name	Tbox factor, pituitary
Synonym symbol(s)	TBS19, TPIT, ACTHD, RP4-747L4.2, FLJ26302, FLJ34543

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
STRUCTURE	33.39 kb     8 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005149 8 - 2882 NP_005140 - 448 - 2003 12668595

EXPRESSION

Type

widely

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive pharynx       highly   stomach       highly endocrine brain diencephalon pituitary   highly Endocrine parathyroid       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine

cell lineage	two pituitary POMC expression lineages the corticotrophs and melanotrophs
cell lines
fluid/secretion

at STAGE

physiological period

embryo

Text	selectively expressed in developing corticotroph cells

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a large N terminal DNA binding domain (T-box)

HOMOLOGY

interspecies	homolog to murine T-box gene Tbx19 (Tbrachyury)
	homolog to chicken TbxT

Homologene

FAMILY

T box family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	playing a role in differentiation of the pituitary POMC lineage and in activation of POMC promoter sinergistically with PITX1
	T-box transcription factor important for terminal differentiation of pituitary proopiomelanocortin-expressing cells
	corticotroph-specific transcription factor

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development , nervous system

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	binding through T-box

RNA

small molecule

protein	activating POMC
	coordinate expression of ETV1 with POMC cell differentiation and its interaction with the highly cell-restricted TBX19 factor indicate that ETV1 participates in a combinatorial code for pituitary cell-specific gene expression
	PAX7 acts by remodeling chromatin and allowing TBX19 binding to a new subset of enhancers for activation of melanotrope-specific genes

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ACTHD

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	target autoantigen in 10.5p100 of patients with lymphocytic hypophysitis
Therapy target

ANIMAL & CELL MODELS