HOXA13: Homeobox A13 Gene in Limb and Genitourinary Development
Key regulator of digit and urogenital tract morphogenesis; mutations cause hand-foot-genital syndrome
Gene Information Card
| Symbol | HOXA13 |
|---|---|
| Full Name | Homeobox A13 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p15.2 |
| NCBI Gene ID | 3209 ncbi.nlm.nih.gov/gene/3209 |
| Ensembl ID | ENSG00000106031 |
| UniProt ID | P31271 |
| OMIM ID | 142959 |
| HGNC ID | 5102 |
| Aliases | HOX1J, HOX1.9 |
Description
HOXA13 is a member of the homeobox A cluster of transcription factors, critical for embryonic development. It regulates anterior-posterior patterning of limbs and the formation of the genitourinary tract. Mutations in HOXA13 cause hand-foot-genital syndrome (HFGS), characterized by limb malformations and urogenital anomalies. The gene encodes a DNA-binding homeodomain protein that activates downstream targets involved in cell proliferation and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hand-foot-genital syndrome | Loss-of-function mutations in HOXA13 disrupt limb and urogenital development | OMIM #140000; multiple missense and nonsense mutations reported in ClinVar |
| Guttmacher syndrome | Likely due to HOXA13 haploinsufficiency affecting digit and uterine development | OMIM #176305; rare case reports |
| Congenital anomalies of kidney and urinary tract | HOXA13 variants impair ureteric bud branching | ClinVar; limited evidence from case-control studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Limb bud | Not available | High |
| Urogenital sinus | Not available | High |
| Placenta | Not available | Moderate |
| Testis | Not available | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | Not available | Low endogenous expression |
| SH-SY5Y | Not available | Moderate expression in neuronal models |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1093C>T (p.Arg365Trp) | Missense | Rare | Loss of DNA-binding activity; associated with HFGS |
| c.1112G>A (p.Arg371His) | Missense | Rare | Reduced transcriptional activation; HFGS |
| c.1072C>T (p.Arg358*) | Nonsense | Rare | Premature truncation; loss of function; HFGS |
Mutation functional classification
Loss of Function (LOF)
Most HOXA13 mutations are loss-of-function, leading to haploinsufficiency and HFGS.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with wild-type HOXA13 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Hox gene regulation in development (Reactome R-HSA-5619507)
• Retinoic acid signaling pathway (KEGG hsa04330)
Protein Summary
HOXA13 is a 388-amino acid transcription factor containing a homeodomain that binds DNA at TAAT motifs. It regulates genes involved in cell adhesion, proliferation, and differentiation during limb and urogenital development. The protein localizes to the nucleus and interacts with other HOX proteins and cofactors such as PBX and MEIS.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HOXA13 Knockout HEK293 Cell Line | EDJ-KQ4916 | Human | 3209 | Details Get a Quote |
| HOXA13 Knockout A-549 Cell Line | EDJ-KQ27751 | Human | 3209 | Details Get a Quote |
| HOXA13 Knockout HCT 116 Cell Line | EDJ-KQ27752 | Human | 3209 | Details Get a Quote |
| HOXA13 Knockout HeLa Cell Line | EDJ-KQ27753 | Human | 3209 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
