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FLASH GENE

Symbol

GSC

contributors: mct - updated : 22-08-2011

HGNC name	goosecoid
HGNC id	4612

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SAMS Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities
Location	14q32.1      Physical location : 95.234.560 - 95.236.499
Synonym name	Spemann organizer gene

DNA

TYPE	functioning gene
STRUCTURE	1.94 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Binding site   transcription factor
text structure	a regulatory motif (GUCE-GTF2IRD1 Upstream Control Element)

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_173849 3 - 1217 - 257 - 2006 17142318

EXPRESSION

Type	restricted

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 female system uterus

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

Text	gastrulation

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

helix-turn-helix, DNA binding domain

HOMOLOGY

interspecies

homolog to Xenopus goosecoid

Homologene

FAMILY

paired homeobox family, bicoid subfamily

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus
text	localized specifically to nuclei 5)

basic FUNCTION	involved in gastrulation process
	may play a role in spatial programing within discrete embryonic fields or lineage compartements during organogenesis
	promoting tumor cell malignancy
	functions as a transcriptional repressor either by direct DNA binding to paired TAAT homeodomain sites or through recruitment by the forkhead/winged helix transcription factor FOXH1
	having an essential role in craniofacial and joint development, suggesting that GSC is an essential regulator of mesodermal patterning in mammals and that it has specific functions in neural crest cell derivatives

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	WWP2 influences craniofacial patterning through its interactions with Goosecoid (GSC), a paired-like homeobox transcription factor that has an important role in craniofacial development
	interacts exclusively with SMAD2, SMAD3 and S

cell & other

REGULATION

Other

post-translationally modified by small ubiquitin-like modifier proteins (SUMO)

ASSOCIATED DISORDERS

corresponding disease(s)

SAMS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in breast cancer, with metastasis

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS