BHLHE22 - basic helix-loop-helix family member e22 Gene

Homo sapiens

Also known as Beta3; BHLHB5; Beta3a; CAGL85; TNRC20

Gene ID: 27319 | Gene type: protein coding

About BHLHE22

Cytogenetic location: 8q12.3 Genomic coordinates (GRCh38): 8:64,580,365-64,583,627 (from NCBI)

This gene has 1 transcript (splice variant), 179 orthologues and 15 paralogues.

Summary

This gene encodes a protein that belongs to the basic helix-loop-helix (bHLH) family of transcription factors that regulate cell fate determination, proliferation, and differentiation. A similar protein in mouse is required for the development of the dorsal cochlear nuclei, and is thought to play a role in in the differentiation of neurons involved in sensory input. The mouse protein also functions in retinogenesis. [provided by RefSeq, Oct 2016]

BHLHE22 Products(1)

mRNA	Protein	Name
NM_152414.5	NP_689627.1	class E basic helix-loop-helix protein 22

BHLHE22 Protein Structure

HLH

0
100
200
300
381 a.a.

Protein Preferred Names

Protein Names

class E basic helix-loop-helix protein 22

basic helix-loop-helix domain containing, class B, 5

Related Diseases

Diseases

Alias

Hermansky-Pudlak Syndrome 2

HPS2	Hermansky Pudlak Syndrome 2
Platelet Defects And Oculocutaneous Albinism	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial
Delta Storage Pool Disease	Hermansky-Pudlak Syndrome, Type 2
Platelet Storage Pool Deficiency	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermansky-Pudlak Syndrome

Hps	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Hermanski-Pudlak Syndrome	Hermansky Pudlak Syndrome
Platelet Storage Pool Deficiency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01492	BHLHE22 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	BHLHE22	VGNC	VGNC:83983
Bos taurus	BHLHE22	VGNC	VGNC:26484
Rattus norvegicus	BHLHE22	RGD	RGD:1305451
Mus musculus	BHLHE22	MGD	MGI:1930001

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