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

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: mouse all
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Genomic context

Location:: 2q37.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (238238267..238240038, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (238728009..238729780, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (239146908..239148679, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HES6 Mediates Oxidative Phosphorylation Pathway to Promote Immune Infiltration of CD8 + T Cells in Lung Adenocarcinoma.
Title: HES6 Mediates Oxidative Phosphorylation Pathway to Promote Immune Infiltration of CD8 + T Cells in Lung Adenocarcinoma.
The novel GATA1-interacting protein HES6 is an essential transcriptional cofactor for human erythropoiesis.
Title: The novel GATA1-interacting protein HES6 is an essential transcriptional cofactor for human erythropoiesis.
ERCC5, HES6 and RORA are potential diagnostic markers of coronary artery disease.
Title: ERCC5, HES6 and RORA are potential diagnostic markers of coronary artery disease.
Single-cell RNA sequencing reveals intratumoral heterogeneity in primary uveal melanomas and identifies HES6 as a driver of the metastatic disease.
Title: Single-cell RNA sequencing reveals intratumoral heterogeneity in primary uveal melanomas and identifies HES6 as a driver of the metastatic disease.
High HES6 expression is associated with metastasis in colorectal cancer.
Title: Overexpression of HES6 has prognostic value and promotes metastasis via the Wnt/β-catenin signaling pathway in colorectal cancer.
prostate cancer-specific up-regulation of NOTCH3 and HES6, is reported.
Title: HES6 promotes prostate cancer aggressiveness independently of Notch signalling.
HES6 mutations are associated with castration resistant and androgen independent tumors in prostate cancer.
Title: DOT1L-HES6 fusion drives androgen independent growth in prostate cancer.
HES6 is up-regulated in aggressive human prostate cancer and drives tumour growth by enhancing the transcriptional activity of the AR, which is preferentially directed to a regulatory network enriched for transcription factors such as E2F1.
Title: HES6 drives a critical AR transcriptional programme to induce castration-resistant prostate cancer through activation of an E2F1-mediated cell cycle network.
HES6 contributes to the pathogenesis of alveolar rhabdomyosarcoma by enhancing both proliferation and cell motility.
Title: HES6 enhances the motility of alveolar rhabdomyosarcoma cells.
HES6 gene is selectively overexpressed in glioma and represents an important transcriptional regulator of glioma proliferation.
Title: HES6 gene is selectively overexpressed in glioma and represents an important transcriptional regulator of glioma proliferation.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

HES6_1699 (e-PCR)
- UniSTS:277307

RH69252 (e-PCR)
- UniSTS:8560

SHGC-64752 (e-PCR)
- UniSTS:95407

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in anterior/posterior pattern specification	IBA Inferred from Biological aspect of Ancestor more info
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
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

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
part_of transcription regulator complex	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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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)

NM_001142853.3 → NP_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/TrEMBL

B9A070

Related

ENSP00000387155.3, ENST00000409002.7

Conserved Domains (2) summary

cd00083
Location:23 → 73

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:94 → 132

Hairy_orange; Hairy Orange
NM_001282434.2 → NP_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:24 → 70

bHLH_SF; basic Helix Loop Helix (bHLH) domain superfamily
NM_018645.6 → NP_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

A8KAP6, B8ZZA9, Q53SN9, Q8N2J2, Q96HZ4, Q96T93, Q9P2S3

UniProtKB/TrEMBL

B9A070

Related

ENSP00000272937.5, ENST00000272937.10

Conserved Domains (2) summary

cd00083
Location:23 → 75

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:96 → 134

Hairy_orange; Hairy Orange