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FLASH GENE

Symbol

BHLHE22

contributors: mct - updated : 30-10-2020

HGNC name	basic helix-loop-helix family, member e22
HGNC id	11963

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	8q12.3      Physical location : 65.492.813 - 65.496.185
Synonym name	basic helix-loop-helix domain containing, class B5
	trinucleotide repeat containing 20
	class B basic helix-loop-helix protein 52
Synonym symbol(s)	Beta3, CAGL85, TNRC20, BHLHB5

DNA

TYPE	functioning gene
STRUCTURE	3.26 kb     1 Exon(s)

motif	repetitive sequence   triplet
text structure	27 bp AGC trinucleotide repeat sequence encoding 9 serines

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_152414 1 - 3388 NP_689627 - 381 - 2017 28473536

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 hindbrain cerebellum cerebellar cortex highly Reproductive male system prostate     moderately Respiratory lung         Urinary kidney       moderately

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text

brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	ortholog to murine Bhlhb5
	homolog to zebrafish zgc64225

intraspecies

homolog to NEUROD2

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	involved in regulation of spinal interneuron development
	KLF9, BHLHE22, Hairless (Hr), are regulated specifically
	by T3 in purified oligodendrocyte precursor cells (OPCs)and involved in oligodendrocyte differentiation and myelin regeneration
	broad expression pattern of BHLHE22 throughout retinogenesis suggesting cell-autonomous as well as non-cell-autonomous role of BHLHE22 in the specification of amacrine and bipolar subtypes
	role for BHLHE22 in the development of neurons that mediate sensory integration

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

PRDM88 is an obligate partner of BHLHE22, forming a repressor complex that directs neural circuit assembly in part through the precise regulation of CDH11

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene	for DURS1
Marker
Therapy target

ANIMAL & CELL MODELS

mice lacking Bhlhb5 showed a dramatically diminished number of neurons, including unipolar brush and cartwheel cell