HES3 - hes family bHLH transcription factor 3 Gene

Also Known as bHLHb43

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 390992

About HES3

Cytogenetic location: 1p36.31 Genomic coordinates (GRCh38): 1:6,244,179-6,245,578 (from NCBI)

This gene has 1 transcript (splice variant), 157 orthologues and 12 paralogues. Low expression observed in reference dataset.

Summary

Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific; E-box binding activity; and N-box binding activity. Predicted to be involved in several processes, including Notch signaling pathway; negative regulation of neuron differentiation; and regulation of neurogenesis. Predicted to act upstream of or within several processes, including nervous system development; regulation of timing of neuron differentiation; and regulation of transcription by RNA polymerase II. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

HES3 Products (1)

mRNA Protein Name
NM_001024598.4 NP_001019769.1 transcription factor HES-3

HES3 Protein Structure

HLH

HLH: Helix-loop-helix DNA-binding domain (1 - 50)

  • 0
  • 100
  • 186 a.a.
Protein Preferred Names Protein Names

transcription factor HES-3

  • class B basic helix-loop-helix protein 43

Related Diseases

Diseases Alias
Robinow Syndrome, Autosomal Dominant 3
  • Autosomal Dominant Robinow Syndrome 3

  • DRS3

  • Robinow, Autosomal Dominant Syndrome, Type 3

Cardiomyopathy, Dilated, 1x
  • Dilated Cardiomyopathy 1x

  • CMD1X

  • Dilated Cardiomyopathy With Mild Or No Proximal Muscle Weakness

  • Cardiomyopathy, Dilated, With Mild Or No Proximal Muscle Weakness

  • Cardiomyopathy, Dilated 1x

  • Cardiomyopathy, Dilated, Type 1x

Chromosome 1p36 Deletion Syndrome
  • 1p36 Deletion Syndrome

  • Deletion 1p36

  • Monosomy 1p36

  • Subtelomeric 1p36 Deletion

  • Monosomy 1p36 Syndrome

  • Distal Monosomy 1p36

  • Del(1)(P36)

  • Deletion 1pter

  • Monosomy 1pter

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

Orthologs Information

Species Symbol Source ID
Felis catus HES3 VGNC VGNC:107552
Macaca mulatta HES3 VGNC VGNC:106380
Canis familiaris HES3 VGNC VGNC:49829
Mus musculus HES3 MGD MGI:104877
Bos taurus HES3 VGNC VGNC:29820
Rattus norvegicus HES3 RGD RGD:621339