ASCL4 achaete-scute family bHLH transcription factor 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ASCL4provided by HGNC
Official Full Name: achaete-scute family bHLH transcription factor 4provided by HGNC
Primary source: HGNC:HGNC:24311
See related: Ensembl:ENSG00000187855 MIM:609155; AllianceGenome:HGNC:24311
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: ASH-4; HASH4; bHLHa44
Summary: Basic helix-loop-helix transcription factors, such as ASCL4, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008]
Orthologs: mouse all
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Genomic context

Location:: 12q23.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (107774704..107776644)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (107738195..107740135)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (108168481..108170421)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

intramitochondrial arachidonic acid and acyl-CoA synthetase 4 in angiotensin II-regulated aldosterone synthesis have roles in NCI-H295R adrenocortical cell line
Title: Role of intramitochondrial arachidonic acid and acyl-CoA synthetase 4 in angiotensin II-regulated aldosterone synthesis in NCI-H295R adrenocortical cell line.
In neuron reduced levels of ACSL4 led to a significant reduction in dendritic spine density and an alteration in spine/filopodia distribution.
Title: The XLMR gene ACSL4 plays a role in dendritic spine architecture.
HASH4 is involved in skin development.
Title: Hash4, a novel human achaete-scute homologue found in fetal skin.

Submit: New GeneRIF Correction

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
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. 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

NoName (e-PCR)
- UniSTS:485742

ASCL4_4382 (e-PCR)
- UniSTS:463549

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 transcription 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 regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed
involved_in skin development	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of RNA polymerase II transcription regulator complex	IBA Inferred from Biological aspect of Ancestor more info
located_in chromatin	ISA Inferred from Sequence Alignment more info

General protein information

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Preferred Names: achaete-scute homolog 4

Names: achaete-scute complex homolog 4; achaete-scute complex-like 4; achaete-scute-like protein 4; class A basic helix-loop-helix protein 44; class II bHLH protein ASCL4

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_203436.3 → NP_982260.3 achaete-scute homolog 4

Status: VALIDATED

Source sequence(s)

AC007622

Consensus CDS

CCDS31894.3

UniProtKB/Swiss-Prot

Q6XD76, Q7RTS2

Related

ENSP00000345420.5, ENST00000342331.5

Conserved Domains (1) summary

cl00081
Location:66 → 129

bHLH_SF; basic Helix Loop Helix (bHLH) domain superfamily