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FLASH GENE

Symbol

HOXD4

contributors: mct/npt - updated : 22-12-2009

HGNC name	homeobox D4
HGNC id	5138

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem, component of a cluster
STRUCTURE	1.84 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site
text structure	a transcriptional start site in addition to a GC-rich positive regulatory element located 3prime to the initiation site (Kobrossy 2006)

MAPPING

cloned

Y

linked

N

status

confirmed

Map

see HOXD@

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014621 2 - 1298 NP_055436 - 255 - Cianetti (1990)

EXPRESSION

Type

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 Reproductive male system prostate       Respiratory lung         Urinary kidney       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	helix-turn-helix domain
	DNA binding domain

HOMOLOGY

interspecies	homolog to Drosophila Dfd and Scr
	ortholog to murine Hoxd4
	homolog to C.elegans C18B12.3

Homologene

FAMILY	ANTP homeobox family
	"deformed" subfamily

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	playing an important role in morphogenesis in all multicellular organisms
	playing a role in determining positional values in developing limb buds
	regulating gene expression, morphogenesis, and differentiation
	playing a key role in patterning the anterior-posterior body axis during embryogenesis

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein

interaction with PAX6 (evolutionarily conserved role for PAX6 in antero-posterior-restricted expression of vertebrate HOXD4) (Nolte 2006)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     of the entire HOXD gene cluster or 5' end of this cluster associated with severe limb and genital abnormalities tumoral germinal mutation       in acute lymphoblastic leukemia

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS