1. Gene
  2. HES5 - hes family bHLH transcription factor 5 Gene

HES5 - hes family bHLH transcription factor 5 Gene

Homo sapiens

Also known as bHLHb38

Gene ID: 388585 | Gene type: protein coding

About HES5

Cytogenetic location: 1p36.32 Genomic coordinates (GRCh38): 1:2,528,745-2,530,263 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele, 726 orthologues and 12 paralogues. Low expression observed in reference dataset.

Summary

This gene encodes a member of a family of basic helix-loop-helix transcriptional repressors. The protein product of this gene, which is activated downstream of the Notch pathway, regulates cell differentiation in multiple tissues. Disruptions in the normal expression of this gene have been associated with developmental diseases and Cancer. [provided by RefSeq, Dec 2008]

HES5 Products(1)

mRNA Protein Name
NM_001010926.4 NP_001010926.1 transcription factor HES-5

HES5 Protein Structure

HLH

HLH: Helix-loop-helix DNA-binding domain (18 - 71)

Hairy_orange

Hairy_orange: Hairy Orange (86 - 122)

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

transcription factor HES-5

class B basic helix-loop-helix protein 38

Related Diseases

Diseases Alias
Large Intestine Adenoma

Adenoma Of Large Intestine

Alagille Syndrome 1

Alagille Syndrome

Arteriohepatic Dysplasia

Alagille-Watson Syndrome

Cholestasis With Peripheral Pulmonary Stenosis

Hepatic Ductular Hypoplasia

Alagille Syndrome Due To A Jag1 Point Mutation

ALGS1

Algs

Aws

Syndromic Bile Duct Paucity

Cardiovertebral Syndrome

Hepatofacioneurocardiovertebral Syndrome

Paucity Of Interlobular Bile Ducts

Watson-Miller Syndrome

Alagille Syndrome Due To 20p12 Microdeletion

Ahd

Hepatic Ductular Hypoplasia, Syndromatic

Watson Alagille Syndrome

Alagille'S Syndrome

Alagille Syndrome Due To Del(20)(P12)

Alagille Syndrome Due To Monosomy 20p12

Alagille-Watson Syndrome Due To Monosomy 20p12

Arteriohepatic Dysplasia Due To Monosomy 20p12

Syndromic Bile Duct Paucity Due To Monosomy 20p12

Alagille-Watson Syndrome Due To A Jag1 Point Mutation

Arteriohepatic Dysplasia Due To A Jag1 Point Mutation

Syndromic Bile Duct Paucity Due To A Jag1 Point Mutation

Alagille Syndrome, Type 1

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
Mus musculus HES5 MGD MGI:104876
Felis catus HES5 VGNC VGNC:107554
Macaca mulatta HES5 VGNC VGNC:106381
Bos taurus HES5 VGNC VGNC:29822
Rattus norvegicus HES5 RGD RGD:621340
Canis familiaris HES5 VGNC VGNC:41666