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

Gene ID: 55502, updated on 5-Aug-2022

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; AllianceGenome:HGNC:18254
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
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Genomic context

See HES6 in Genome Data Viewer
Location:
2q37.3
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (238238267..238240038, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (238728009..238729780, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (239146908..239148679, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2610 Neighboring gene TARDBP pseudogene 3 Neighboring gene period circadian regulator 2 Neighboring gene uncharacterized LOC112268433 Neighboring gene TRAF3 interacting protein 1

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

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in anterior/posterior pattern specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of DNA-binding transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in nervous system development IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of DNA-templated transcription TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of neurogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
part_of transcription regulator 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)

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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
    cl00081
    Location:2470
    bHLH_SF; basic Helix Loop Helix (bHLH) domain superfamily
  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, Q9P2S3
    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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    238728009..238729780 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)