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FLASH GENE

Symbol

SHOX

contributors: mct/pgu - updated : 30-11-2011

HGNC name	short stature homeobox
HGNC id	10853

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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 Cardiovascular heart         Endocrine pancreas

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective bone       Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, pregnancy

Text	placenta, pharyngeal pouches, limbs
	expressed both in early embryonic limb development and in fetal and childhood growth plates
	coexpression of SHOX, SOX5, SOX6 and SOX9 in the fetal growth plate

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	DNA binding protein with POU specific and POU homeo (helix-turn-helix) domains
	the C terminal OAR domain found in homeo domain proteins highly expressed in craniofacial tissues

HOMOLOGY

interspecies

homolog to murine OG-12a,OG-12b

intraspecies

homolog to SHOX2

Homologene

FAMILY	paired homeobox family
	bicoid subfamily

CATEGORY

DNA associated , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	transcriptional activator
	cell specific involved in the limb development and first and second pharyngeal arches
	playing a role in chondrocyte function in the growth plate
	plays a direct role in regulating the differentiation of hypertrophic/apoptotic chondrocytes of the growth plate
	transcription factor which is important for normal limb development
	cooperates with SOX5/SOX6 and SOX9 in the activation of the upstream ACAN enhancer
	SHOX appears to be critical for normal pacemaking function
	plays a similar role as SHOX2 in the sinoatrial node formation and pacemaking function by controlling a genetic cascade through the repression of NKX2-5

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development

text	organogenesis

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	FGFR3 is a novel transcriptional target of SHOX (SHOX strongly activate the extended FGFR3 promoter)
	cooperates with SOX5/SOX6 and SOX9 in the activation of the upstream ACAN enhancer

cell & other

REGULATION

Other

regulated by a combination of transcriptional and translational control mechanisms

ASSOCIATED DISORDERS

corresponding disease(s)

DCS , GCX , MMDL , SHSIX , DELXPF , DELXPM

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in structural and numerical X abnormalities constitutional   deletion     in idiopathic short stature (hot-spot of proximal deletion ) constitutional   amplification     duplication with a variable amount of flanking sequence and unclear clinical significance constitutional       loss of function would create a relatively increased FGFR3 expression in ulna and radius as well as in tibia and fibula, thereby accelerating a fusion of the growth plates and causing a relative shortening of the respective bones

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS