HOXA4 homeobox A4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HOXA4provided by HGNC
Official Full Name: homeobox A4provided by HGNC
Primary source: HGNC:HGNC:5105
See related: Ensembl:ENSG00000197576 MIM:142953; AllianceGenome:HGNC:5105
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: HOX1; HOX1D
Summary: In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. [provided by RefSeq, Jul 2008]
Expression: Broad expression in esophagus (RPKM 4.4), lung (RPKM 4.1) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p15.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (27128525..27130757, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (27264506..27266738, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (27168144..27170376, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

lncRNA HOTAIRM1 Activated by HOXA4 Drives HUVEC Proliferation Through Direct Interaction with Protein Partner HSPA5.
Title: lncRNA HOTAIRM1 Activated by HOXA4 Drives HUVEC Proliferation Through Direct Interaction with Protein Partner HSPA5.
High expression of <i>HOXA4</i> in patients with glioma indicates unfavorable clinical outcomes.
Title: High expression of HOXA4 in patients with glioma indicates unfavorable clinical outcomes.
MiR-150 Attenuates Maladaptive Cardiac Remodeling Mediated by Long Noncoding RNA MIAT and Directly Represses Profibrotic Hoxa4.
Title: MiR-150 Attenuates Maladaptive Cardiac Remodeling Mediated by Long Noncoding RNA MIAT and Directly Represses Profibrotic Hoxa4.
Expression Landscape and Functional Roles of HOXA4 and HOXA5 in Lung Adenocarcinoma.
Title: Expression Landscape and Functional Roles of HOXA4 and HOXA5 in Lung Adenocarcinoma.
Aberrant DNA methylation at HOXA4 and HOXA5 genes are associated with resistance to imatinib mesylate among chronic myeloid leukemia patients.
Title: Aberrant DNA methylation at HOXA4 and HOXA5 genes are associated with resistance to imatinib mesylate among chronic myeloid leukemia patients.
Epigenome-wide analysis reveals functional modulators of drug sensitivity and post-treatment survival in chronic lymphocytic leukaemia.
Title: Epigenome-wide analysis reveals functional modulators of drug sensitivity and post-treatment survival in chronic lymphocytic leukaemia.
The results indicated that completely different sets of transcription factors coregulate HOXA4 and HOXD10 (but not HOXA9) and their expression-correlated genes.
Title: Gene expression signatures for HOXA4, HOXA9, and HOXD10 reveal alterations in transcriptional regulatory networks in colon cancer.
This study evaluated the methylation level and gene expression of HOXA4 and IGF1, which showed increased DNA methylation and decreased expression in breast cancer. HOXA4 and IGF1 are promising biomarkers for the early detection of breast cancer.
Title: Microarray-based analysis of whole-genome DNA methylation profiling in early detection of breast cancer.
these data suggest that HOXA4 is a potential diagnostic and prognostic marker in lung cancer, and its overexpression could inhibit lung cancer progression in part by promoting GSK3beta transcription.
Title: HOXA4, down-regulated in lung cancer, inhibits the growth, motility and invasion of lung cancer cells.
HOXA4 may play a role in regulating human growth by epigenetic mechanisms.
Title: Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children.

Submit: New GeneRIF Correction See all GeneRIFs (23)

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 analyses identify variants in developmental genes associated with hypospadias. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat specifically associates with HOXA4 promoter to upregulate HOXA4 expression in T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

HOXA4 (e-PCR)
- UniSTS:278530

ECD20078 (e-PCR)
- UniSTS:301082

NoName (e-PCR)
- UniSTS:484641

REN100452 (e-PCR)
- UniSTS:425249

REN100453 (e-PCR)
- UniSTS:425250

REN100454 (e-PCR)
- UniSTS:425251

REN100455 (e-PCR)
- UniSTS:425252

REN100456 (e-PCR)
- UniSTS:425253

REN100457 (e-PCR)
- UniSTS:425254

REN100458 (e-PCR)
- UniSTS:425255

REN100459 (e-PCR)
- UniSTS:425256

REN100460 (e-PCR)
- UniSTS:425257

REN100461 (e-PCR)
- UniSTS:425258

REN100462 (e-PCR)
- UniSTS:425259

REN100463 (e-PCR)
- UniSTS:425260

REN100464 (e-PCR)
- UniSTS:425261

REN100469 (e-PCR)
- UniSTS:425266

REN100470 (e-PCR)
- UniSTS:425267

REN100471 (e-PCR)
- UniSTS:425268

REN100472 (e-PCR)
- UniSTS:425269

ECD11377 (e-PCR)
- UniSTS:292413

ECD16077 (e-PCR)
- UniSTS:297092

Hoxa4 (e-PCR), detects polymorphism
- UniSTS:547734

ECD00681 (e-PCR)
- UniSTS:281790

D7S2834 (e-PCR)
- UniSTS:8898

G10625 (e-PCR)
- UniSTS:39624

ECD00487 (e-PCR)
- UniSTS:281598

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 sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in anatomical structure morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in anterior/posterior pattern specification	IBA Inferred from Biological aspect of Ancestor more info
involved_in embryonic skeletal system morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in nuclear body	IDA Inferred from Direct Assay more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: homeobox protein Hox-A4

Names: Dfd-like protein; Hox-1.4-like protein; homeo box A4; homeobox protein Hox-1.4; homeobox protein Hox-1D

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.