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FLASH GENE

Symbol

GSC2

contributors: mct - updated : 11-03-2011

HGNC name	goosecoid homeobox 2
HGNC id	4613

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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 Nervous brain         Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, pregnancy

Text	early development of neural crest-derived structure

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

helix-turn-helix and paired DNA binding domains

HOMOLOGY

interspecies

homolog to Xenopus goosecoid homeo domain gene-like

Homologene

FAMILY	paired homeobox family
	bicoid subfamily

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION
text	restricted to the interpeduncular nucleus (IP) in the ventral region of the midbrain–hindbrain transition

basic FUNCTION	putative playing a role in learning or psychiatric disorders
	paralogue of goosecoid and a homeobox transcription factor that recognizes a specific DNA sequence and interacts with ring finger protein 4
	transcription factor with suppressive activity, expressed during early brain and gonad development

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

GSC2/RNF4 interactions (in addition to acting as a modulator of transcriptional activity, RNF4 may function, as do other RING proteins, to promote the formation of intracytoplasmic complexes involved in shuttling information between the cytoplasm and the nucleus)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     in Di George syndrome constitutional         loss of GSC2 and DGCR14 affects the regulation of hippocampal theta and rapid eye movement sleep, possibly contributing to the psychiatric symptoms frequently seen in patients who have 22q11 syndrome

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Gscl&
	8722;/&
	8722; mice have apparently normal anatomy and connections of the interpeduncular nucleus, but they exhibited a reduced total time spent in REM sleep and fewer rapid eye movement sleep (REM) episodes