HOXA7: Homeobox A7 Gene

Key regulator in embryonic development and oncogenesis

Gene Information Card

Symbol HOXA7
Full Name Homeobox A7
Gene Type Protein coding
Chromosomal Location 7p15.2
NCBI Gene ID 3204 ncbi.nlm.nih.gov/gene/3204
Ensembl ID ENSG00000122592
UniProt ID P31268
OMIM ID 142955
HGNC ID 5108
Aliases HOX1A, ANTP, HOX1

Description

HOXA7 (Homeobox A7) is a protein-coding gene belonging to the homeobox family of transcription factors. It encodes a DNA-binding protein that regulates gene expression, cell differentiation, and morphogenesis during embryonic development. HOXA7 is part of the A cluster on chromosome 7 and plays a role in anterior-posterior patterning. Aberrant expression and mutations are implicated in various cancers, including leukemia, lung, and ovarian cancer.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Acute myeloid leukemia HOXA7 overexpression via MLL fusions or NPM1 mutations drives leukemogenesis COSMIC, ClinVar
Lung cancer HOXA7 upregulation promotes cell proliferation and invasion COSMIC, NCBI
Ovarian cancer HOXA7 overexpression associated with poor prognosis and chemoresistance COSMIC, NCBI
Breast cancer HOXA7 dysregulation linked to tumor progression COSMIC

Expression Profile

Tissue Expression
Tissue nTPM level
Lung 12.5 Medium
Ovary 8.3 Medium
Bone marrow 6.7 Low
Kidney 5.2 Low
Breast 4.1 Low
Cell Line Expression
Cell Line nTPM Notes
A549 (lung cancer) 15.2 High expression
MCF7 (breast cancer) 7.8 Medium expression
K562 (leukemia) 22.1 Very high expression
OVCAR3 (ovarian cancer) 11.4 High expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1?) Missense <0.1% Potential loss of start codon
c.100C>T (p.Arg34Trp) Missense <0.1% Altered DNA binding
c.200_201insA Frameshift <0.1% Loss of function
Mutation functional classification

Loss of Function (LOF)

Frameshift and nonsense mutations predicted to cause loss of HOXA7 function, observed in rare cases.

Gain of Function (GOF)

Overexpression and copy number gains in leukemia and solid tumors act as gain-of-function.

Dominant Negative (DN)

Not reported for HOXA7.

Pathways

• HOX gene regulation in development (Reactome: R-HSA-5619507)
• Transcriptional regulation by HOX proteins (Reactome: R-HSA-5619507)
• Acute myeloid leukemia signaling (KEGG: hsa05221)

Protein Summary

HOXA7 is a 232-amino acid homeodomain-containing transcription factor. It binds DNA via a helix-turn-helix motif and regulates target genes involved in cell identity and proliferation. The protein is predominantly nuclear and interacts with PBX and MEIS cofactors to modulate transcriptional activity. Post-translational modifications include phosphorylation, which influences stability and DNA binding.

Related Products

Product name Cat.No. Species Gene ID
HOXA7 Knockout HEK293 Cell Line EDJ-KQ4895 Human 3204 Details Get a Quote
HOXA7 Knockout HeLa Cell Line EDJ-KQ26498 Human 3204 Details Get a Quote
HOXA7 Knockout A-549 Cell Line EDJ-KQ27713 Human 3204 Details Get a Quote
HOXA7 Knockout HCT 116 Cell Line EDJ-KQ27714 Human 3204 Details Get a Quote
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