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

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 27319

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

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BHLHE22 Protein Structure

HLH

HLH: Helix-loop-helix DNA-binding domain (244 - 295)

  • 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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS01492 BHLHE22 Human Pre-designed siRNA Set A Pre-designed Set / 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