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HES6 hes family bHLH transcription factor 6 [ Homo sapiens (human) ]

Gene ID: 55502, updated on 13-Mar-2020

Summary

Official Symbol
HES6provided by HGNC
Official Full Name
hes family bHLH transcription factor 6provided by HGNC
Primary source
HGNC:HGNC:18254
See related
Ensembl:ENSG00000144485 MIM:610331
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HES-6; bHLHb41; bHLHc23; C-HAIRY1
Summary
This gene encodes a member of a subfamily of basic helix-loop-helix transcription repressors that have homology to the Drosophila enhancer of split genes. Members of this gene family regulate cell differentiation in numerous cell types. The protein encoded by this gene functions as a cofactor, interacting with other transcription factors through a tetrapeptide domain in its C-terminus. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Dec 2008]
Expression
Biased expression in brain (RPKM 23.5), colon (RPKM 8.2) and 12 other tissues See more
Orthologs

Genomic context

See HES6 in Genome Data Viewer
Location:
2q37.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (238238267..238240038, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (239146908..239148681, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2610 Neighboring gene TAR DNA binding protein pseudogene Neighboring gene period circadian regulator 2 Neighboring gene uncharacterized LOC112268433 Neighboring gene uncharacterized LOC105373961

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription repressor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
transcription coregulator activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
transcription factor binding NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
anterior/posterior pattern specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of neurogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor complex ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 

General protein information

Preferred Names
transcription cofactor HES-6
Names
class B basic helix-loop-helix protein 41
hairy and enhancer of split 6

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001142853.3NP_001136325.1  transcription cofactor HES-6 isoform b

    See identical proteins and their annotated locations for NP_001136325.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the coding region compared to variant 1. The encoded protein (isoform b) is shorter compared to isoform a.
    Source sequence(s)
    AC016757, AF260237, BC007939
    Consensus CDS
    CCDS46556.1
    UniProtKB/Swiss-Prot
    Q96HZ4
    Related
    ENSP00000387155.3, ENST00000409002.7
    Conserved Domains (2) summary
    cd00083
    Location:2373
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    pfam07527
    Location:94132
    Hairy_orange; Hairy Orange
  2. NM_001282434.2NP_001269363.1  transcription cofactor HES-6 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice donor site which results in a frameshift compared to variant 1. The encoded isoform (c) is shorter and has a novel C-terminus compared to isoform 1.
    Source sequence(s)
    AC016757, BC007939, BE796220, DB495731
    Consensus CDS
    CCDS63180.1
    UniProtKB/Swiss-Prot
    Q96HZ4
    Related
    ENSP00000387008.1, ENST00000409574.1
    Conserved Domains (1) summary
    cd00083
    Location:2370
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
  3. NM_018645.6NP_061115.2  transcription cofactor HES-6 isoform a

    See identical proteins and their annotated locations for NP_061115.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AC016757, BC007939, BE796220
    Consensus CDS
    CCDS2527.1
    UniProtKB/Swiss-Prot
    Q96HZ4
    Related
    ENSP00000272937.5, ENST00000272937.10
    Conserved Domains (2) summary
    cd00083
    Location:2375
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    pfam07527
    Location:96134
    Hairy_orange; Hairy Orange

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    238238267..238240038 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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