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FLASH GENE

Symbol

LHX4

contributors: mct/npt - updated : 26-08-2008

HGNC name	LIM homeobox 4
HGNC id	21734

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEL1QM chromosome 1q interstitial deletions PCDST pituitary and cerebellar defects and small sella turcica
Location	1q25.2      Physical location : 180.199.441 - 180.244.188
Synonym name	LIM homeobox protein 4
Synonym symbol(s)	Gsh-4, Gsh4

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head
STRUCTURE	44.00 kb     6 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 6 - 1913 - 390 - Castinetti (2008)

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 forebrain cerebral cortex       spinal cord         Reproductive female system uterus

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal     Nervous central

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	in the spinal cord and hindbrain, Rathke pouch at the early stage of development

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two amino terminal tandemly repeated LIM motifs
	a C terminus helix-turn-helix (homeodomain) binding domain

HOMOLOGY

interspecies

ortholog to murine Lhx4

intraspecies

paralog to LHX3

Homologene

FAMILY

LIM-homeobox gene family

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	LIM homeodomain transcription factor involved in pituitary ontogenesis
	play essential roles in pituitary gland and nervous system development (Mullen 2007)
	coordinating brain development and skull morphogenesis
	transactivator of pituitary genes
	playing a critical role in the development of motor neurons and in specification and expansion of specialized anterior pituitary cells
	may be playing an important role, possibly as an activator, in leukemogenesis

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

text	morphogenetic organizer of cephalic development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	SLB
	LHX4 may act as a potential tumor suppressor in hepatocarcinogenesis, (LHX4 expression increased in adult liver in a manner that parallel AFP repression) suggesting that targeting LHX4 to downregulate AFP might have therapeutic implications

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PCDST , DEL1QM

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion translocation     in t(1;14) (q25;q32) with IGHG1/LHX4 fusion gene in pre-acute lymphoblastic leukemia

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

cooperating with Lhx3 in pituitary development and motor neuron specification in mice