HES4 hes family bHLH transcription factor 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HES4provided by HGNC
Official Full Name: hes family bHLH transcription factor 4provided by HGNC
Primary source: HGNC:HGNC:24149
See related: Ensembl:ENSG00000188290 MIM:608060; AllianceGenome:HGNC:24149
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: bHLHb42
Summary: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in anterior/posterior pattern specification and regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in fat (RPKM 3.0), prostate (RPKM 2.2) and 19 other tissues See more
Orthologs: all
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Genomic context

Location:: 1p36.33

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (998964..1000097, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (429119..430252, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (934344..935477, complement)

Chromosome 1 - NC_000001.11 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?

HES1 and HES4 have non-redundant roles downstream of Notch during early human T-cell development.
Title: HES1 and HES4 have non-redundant roles downstream of Notch during early human T-cell development.
Hes4 overexpression promotes a more aggressive tumor phenotype by preventing osteoblastic differentiation of osteosarcoma cells. Hes4 expression may allow for the stratification of patients into good or poor responders to chemotherapy at diagnosis.
Title: Hes4: A potential prognostic biomarker for newly diagnosed patients with high-grade osteosarcoma.
Overexpression and knockdown studies demonstrated that Hes4 promotes osteogenesis resulting in an increase in Runx2, osteocalcin, osteopontin, and bone sialoprotein expression in BMSC.
Title: Novel basic helix-loop-helix transcription factor hes4 antagonizes the function of twist-1 to regulate lineage commitment of bone marrow stromal/stem cells.
Epigenetic dysregulation of HES4 could play a critical role in modifying Huntington's disease pathogenesis and severity.
Title: Epigenetic dysregulation of hairy and enhancer of split 4 (HES4) is associated with striatal degeneration in postmortem Huntington brains.

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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

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info

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 nervous system development	IEA Inferred from Electronic Annotation 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

General protein information

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Preferred Names: transcription factor HES-4

Names: bHLH factor Hes4; class B basic helix-loop-helix protein 42; hHES4; hairy and enhancer of split 4

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_001142467.2 → NP_001135939.1 transcription factor HES-4 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents in-frame inclusion of an alternate intron and encodes a longer protein (isoform 1).

Source sequence(s)

BC012351, BI757407, BM713553, DB485006

Consensus CDS

CCDS44034.1

UniProtKB/TrEMBL

E9PB28

Related

ENSP00000393198.2, ENST00000428771.6

Conserved Domains (2) summary

cd00083
Location:62 → 119

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:136 → 174

Hairy_orange; Hairy Orange
NM_001410700.1 → NP_001397629.1 transcription factor HES-4 isoform 3

Status: VALIDATED

Source sequence(s)

AL645608

Consensus CDS

CCDS90837.1

UniProtKB/TrEMBL

D6REB3

Related

ENSP00000425085.1, ENST00000484667.2
NM_021170.4 → NP_066993.1 transcription factor HES-4 isoform 2

See identical proteins and their annotated locations for NP_066993.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) represents an alternate intron and encodes a shorter protein (isoform 2), compared to transcript variant 1.

Source sequence(s)

BC012351, BI757407, DB485006

Consensus CDS

CCDS5.1

UniProtKB/Swiss-Prot

Q5SVA5, Q9HCC6

Related

ENSP00000304595.7, ENST00000304952.11

Conserved Domains (2) summary

cd00083
Location:33 → 93

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:110 → 148

Hairy_orange; Hairy Orange