HOXA6 homeobox A6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HOXA6provided by HGNC
Official Full Name: homeobox A6provided by HGNC
Primary source: HGNC:HGNC:5107
See related: Ensembl:ENSG00000106006 MIM:142951; AllianceGenome:HGNC:5107
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; HOX1B; HOX1.2
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: Biased expression in endometrium (RPKM 5.2), kidney (RPKM 2.8) and 10 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_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (27145396..27147774, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (27281372..27283742, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (27185015..27187393, complement)

Chromosome 7 - NC_000007.14 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?

Next-generation sequencing identifies HOXA6 as a novel oncogenic gene in low grade glioma.
Title: Next-generation sequencing identifies HOXA6 as a novel oncogenic gene in low grade glioma.
Coexpression of HOXA6 and PBX2 promotes metastasis in gastric cancer.
Title: Coexpression of HOXA6 and PBX2 promotes metastasis in gastric cancer.
Study revealed that the mRNA and protein expression levels of HOXA6 were suppressed in clear cell renal cell carcinoma (ccRCC) tissues. Its overexpression suppresses cell proliferation and promotes apoptosis, which may occur via inhibition of the PI3K/Akt/ERK cascade.
Title: HOXA6 inhibits cell proliferation and induces apoptosis by suppressing the PI3K/Akt signaling pathway in clear cell renal cell carcinoma.
Results demonstrated thatHOXA6 is up-regulated in colorectal cancer (CRC) and promoted cell proliferation, migration and invasion, but inhibited apoptosis, whereas the downregulated expression of HOXA6 produced the opposite effects. HOXA6 regulated apoptosis through the Bcl-2 signaling pathway, and regulated migration and invasion through the EMT process.
Title: Effect of HOXA6 on the proliferation, apoptosis, migration and invasion of colorectal cancer cells.
HOXA6 is a signature gene involved in cell growth and sensitivity to chemotherapy in acute myeloid leukemia cells.
Title: HOXA/PBX3 knockdown impairs growth and sensitizes cytogenetically normal acute myeloid leukemia cells to chemotherapy.
Data indicate that genes with hypermethylated CpG islands in malignant meningiomas, such as HOXA6 and HOXA9, tend to coincide with the binding sites of polycomb repressive complexes (PRC) in early developmental stage.
Title: DNA methylation in the malignant transformation of meningiomas.
Observational study of gene-disease association. (HuGE Navigator)
Title: High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
Enforced overexpression of HOXA6 or HOXA9 in FDCP-Mix resulted in increased proliferation and colony formation but had negligible effect on differentiation in early multipotential and later committed precursor cells
Title: Hoxa6 potentiates short-term hemopoietic cell proliferation and extended self-renewal.

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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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Markers

ECD01261 (e-PCR)
- UniSTS:282368

ECD08492 (e-PCR)
- UniSTS:289540

ECD07231 (e-PCR)
- UniSTS:288288

Hoxa6 (e-PCR), detects polymorphism
- UniSTS:536644

D7S150 (e-PCR)
- UniSTS:77666

REN100530 (e-PCR)
- UniSTS:425327

REN100531 (e-PCR)
- UniSTS:425328

REN100532 (e-PCR)
- UniSTS:425329

REN100536 (e-PCR)
- UniSTS:425333

REN100537 (e-PCR)
- UniSTS:425334

REN100538 (e-PCR)
- UniSTS:425335

REN100539 (e-PCR)
- UniSTS:425336

REN100540 (e-PCR)
- UniSTS:425337

REN100541 (e-PCR)
- UniSTS:425338

REN100542 (e-PCR)
- UniSTS:425339

REN100543 (e-PCR)
- UniSTS:425340

REN100544 (e-PCR)
- UniSTS:425341

REN100545 (e-PCR)
- UniSTS:425342

REN100546 (e-PCR)
- UniSTS:425343

REN100547 (e-PCR)
- UniSTS:425344

ECD06344 (e-PCR)
- UniSTS:287406

NoName (e-PCR)
- UniSTS:485837

NoName (e-PCR)
- UniSTS:480721

ECD08699 (e-PCR)
- UniSTS:289747

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 anterior/posterior pattern specification	IBA Inferred from Biological aspect of Ancestor more info
involved_in embryonic skeletal 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
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: homeobox protein Hox-A6

Names: homeo box 1B; homeo box A6; homeobox protein HOXA6; homeobox protein Hox-1B

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.