1. Gene
  2. HES3 - hes family bHLH transcription factor 3 Gene

HES3 - hes family bHLH transcription factor 3 Gene

Homo sapiens

Also known as bHLHb43

Gene ID: 390992 | Gene type: protein coding

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