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FLASH GENE

Symbol

HLX

contributors: mct - updated : 01-10-2009

HGNC name	H2.0-like homeobox
HGNC id	4978

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	1q41      Physical location : 221.052.742 - 221.058.398
Synonym name	H2.0-like homeo box 1 (Drosophila)
	homeobox protein HB24
	homeobox protein HLX1
Synonym symbol(s)	HB24, HLX1

DNA

TYPE	functioning gene
STRUCTURE	5.66 kb     4 Exon(s)

text structure

a GCC repeat

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_021958 4 - 2308 50 488 - Slavotinek (2009)

EXPRESSION

Type

widely

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 Digestive intestine small intestine     highly Lymphoid/Immune spleen       highly Reproductive female system uterus cervix   highly Respiratory lung         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective bone subchondral     Epithelial barrier lining endometrium

cell lineage	hematopoietic lineages
cell lines
fluid/secretion

at STAGE

physiological period

embryo, fetal, pregnancy

Text	extra-embryonic tissues, such as placenta, eye

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	helix-turn-helix, DNA binding domain
	a stretch of alanine

HOMOLOGY

interspecies

homolog to Drosophila antennapedia

Homologene

FAMILY

H2.0 homeobox family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	putative transcription factor involved in embryogenesis and hematopoiesis
	may be playing an important role in lymphocytes and certain developing tissues
	required for the transcriptional control of genes important for endometrial cell differentiation
	may potentially function to balance attractive with repulsive vessel guidance by up-regulating UNC5B and to down-modulate sprouting under normoxic conditions
	strongly increased the transcripts for several repulsive cell-guidance proteins including UNC5B, PLXNA1, and SEMA3G

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

activated by

vascular endothelial growth factor-A (VEGFA) in endothelial cells

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to congenital diaphragmatic hernia

Variant & Polymorphism other	variants increasing risk of congenital diaphragmatic hernia ((Slavotinek 2009)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS