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FLASH GENE

Symbol

PBX2

contributors: mct/npt - updated : 07-03-2017

HGNC name	pre-B-cell leukemia homeobox 2
HGNC id	8633

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	6p21.3      Physical location : 3.413.529 - 32.157.963
Synonym name	major histocompatibility class III region,G17 (see HTFAG@)
	pre-B-cell leukemia transcription factor 2
	homeobox 12
Synonym symbol(s)	HOX12, PBX4, PBX2MHC, G17

DNA

TYPE	functioning gene
STRUCTURE	5.45 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002586 9 - 3231 NP_002577 - 430 - Monica (1991)

EXPRESSION

Type

widely

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 blood / hematopoietic spleen           thymus         Endocrine pancreas         Nervous brain

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	most tissues

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	helix-turn-helix
	DNA binding domain with an homeo domain
	TALE (three AA loop extension between helices) subfamily

HOMOLOGY

interspecies

homolog to murine Pbx2

intraspecies

homolog to PBX1

Homologene

FAMILY

TALE/PBX homeobox family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION	transcriptional activator which binds to the TLX1 promoter
	playing an important role in megakaryocytic gene expression
	govern axial skeletal development by controlling Polycomb and HOX in mesoderm and PAX1/PAX9 in sclerotome (Capellini 2008)

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	binding (homeodomain)
	binding cooperatively with the heterodimer E2A/myogenic transcription factors

RNA

small molecule

protein

DACH1 has a stronger transcription-promoting activity with HOXA9 than does PBX2 with HOXA9

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   leads to PBX1 haploinsufficiency and specific malformations that resemble tetralogy of Fallot, overriding aorta with ventricular septal defect, and bicuspid aortic valves (Stankunas 2008) tumoral     --over   correlated with prognosis of non-small cell lung carcinoma (Qiu 2009)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target	target molecule for treatment of non-small cell lung carcinoma (Qiu 2009)

ANIMAL & CELL MODELS