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FLASH GENE

Symbol

BARHL2

contributors: mct/npt - updated : 28-08-2013

HGNC name	BarH-like homeobox 2
HGNC id	954

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	1p22.2      Physical location : 91.177.579 - 91.182.794
Synonym name	BarH-like 2 (Drosophila)

DNA

TYPE	functioning gene
STRUCTURE	5.22 kb     3 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_020063 3 - 1496 NP_064447 41 387 - 2000 10814725

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 Digestive liver       highly Lymphoid/Immune thymus       highly Nervous brain diencephalon     highly Mus musculus Fetal   spinal cord       highly Mus musculus Fetal Visual eye retina       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Mus musculus Fetal Visual amacrine cell Homo sapiens Visual ganglion cell Homo sapiens Visual horizontal association cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

helix turn helix protein (homeobox)

HOMOLOGY

interspecies

homolog to Drosophila BarH

Homologene

FAMILY

BAR homeobox family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	may play a crucial role in cell fate determination of neural structures
	may function to specify the identity of glycinergic amacrine cells from competent progenitors during retinogenesis
	appears to have numerous roles in retinal development, including regulating neuronal subtype specification, differentiation, and survival
	BARHL1, BARHL2 share a conserved function as cell type-specific regulators of Caspase3 activities
	critical postmitotic regulator of dI1 (dorsal interneurons 1) subtype diversification, as well as its intermediate position in the dI1 genetic hierarchy
	central function of BARHL2 in the postmitotic divergence of dI1 neurons into distinct dI1i and dI1c subtypes, and establish its intermediate position in the dI1 genetic hierarchy

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

ATOH7 itself influences the subtypes of BARHL2-dependent amacrine cells

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Barhl2-nulls mice survive up to the third postnatal week and exhibit ataxia that is characterized by unstable gait, abrupt limb movements, and bunching of the trunk during tail suspension