Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

HOXB5

contributors: mct - updated : 24-02-2015

HGNC name	homeobox B5
HGNC id	5116

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002147 2 - 1830 NP_002138 - 269 - -

EXPRESSION

Type

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 Respiratory lung         Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Respiratory epithelial cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

helix-turn-helix, DNA binding domain

HOMOLOGY

interspecies	homolog to murine Hox-2.1
	homolog to Drosophila Scr

intraspecies

paralog to HOXA5

Homologene

FAMILY

Antp homeobox family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	involved in the positioning of the mouse upper limb bud
	HOXB5 in coordination with other transcription factors mediates RET expression
	HOXB5 and PHOX2B, regulating enteric neural crest cells (ENCCs) proliferation, migration and differentiation could be risk factors for Hirschsprung disease (HSCR)
	role in lung formation, the latter being involved in branching morphogenesis, goblet cell specification, and postnatal air space structure, revealing partial functional redundancy with HOXA5
	HOXA5 and HOXB5 paralog genes shared some functions during lung morphogenesis, but HOXA5 playing a predominant role
	is required for forelimb anterior patterning
	played a role in the neural crest (NC) development

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	HOXB5 binds to the promoter region 5prime upstream of the binding site of NKX2-1 and regulates RET expression
	interacts with promyelocytic leukemia zinc finger (ZBTB16) biochemically and genetically to restrict SHH expression
	regulates RET transcription, and perturbations in transcriptional regulation by HOXB5 caused reduced RET expression and defective enteric nervous system development
	binding of HOXB5 to FOXD3 promoter (HOXB5 regulated the neural crest (NC) development by directly inducing FOXD3)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   enhances blood vessel perfusion by up-regulation of CCL2 and IL6 as well as in enhanced leucocyte infiltration and blood vessel remodelling constitutional   deletion     leads to anterior forelimb defects resulting from derepression of SHH expression tumoral   amplification     in oral squamous cell carcinoma

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS