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FLASH GENE

Symbol

HOXB13

contributors: mct/npt/pgu - updated : 22-04-2010

HGNC name	homeobox B13
HGNC id	5112

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	17q21.32      Physical location : 46.802.128 - 46.806.111
Synonym symbol(s)	HXBD, PSGD

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
STRUCTURE	3.99 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map

see HOXB@

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006361 2 - 3047 NP_006352 - 284 - 2007 17942676

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 Reproductive male system prostate     predominantly Respiratory lung

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal

Text	during embryogenesis, robustly expressed in the posterior axial skeleton as well as the posterior endoderm that gives rise to the most distal regions of the gastrointestinal tract and the urogentital sinus

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

helix-turn-helix DNA binding domain

HOMOLOGY

interspecies

homolog to murine Hoxb13

Homologene

FAMILY

ABD-B homeobox family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	playing a role in fetal skin development and cutaneous regeneration
	may play an important role in tumors arising from endocrine-responsive organs
	functions as an AR repressor to modulate the complex AR signaling and subsequent growth regulation of prostate cancer cells
	with the androgen receptor (AR), plays a critical role in the normal development of the prostate gland
	homeobox transcription factor gene that is important in prostate development

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

interacts with the DNA-binding domain of AR and inhibits the transcription of genes that contain an androgen-response element (ARE)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in endometrial, ovarian, and cervical carcinomas and is associated with the invasiveness of ovarian and endometrial cancer cells tumoral     --low   by hypermethylation of HOXB13 is a late event of breast tumorigenesis and a poor prognostic indicator of node-positive cancer patients

Susceptibility

to hereditary prostate cancer

Variant & Polymorphism other	HOXB13 G84E variant is associated with a significantly increased risk of hereditary prostate cancer

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS