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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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HOXA13
homeobox A13
Chromosome 7 Β· 7p15.2
NCBI Gene: 3209Ensembl: ENSG00000106031.9HGNC: HGNC:5102UniProt: P31271
105PubMed Papers
22Diseases
0Drugs
11Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingnucleoplasmsequence-specific DNA bindingnucleushand-foot-genital syndromeGuttmacher syndromepolydactylyEndometrial Endometrioid Adenocarcinoma
✦AI Summary

HOXA13 is a sequence-specific transcription factor that functions as a developmental regulator controlling positional identity along the anterior-posterior axis 1. As a homeodomain-containing protein, HOXA13 binds DNA and regulates transcription by RNA polymerase II, playing critical roles in genitourinary and skeletal development 1. Mutations in HOXA13 cause Hand-Foot-Genital syndrome and contribute to Guttmacher syndrome, underscoring its essential developmental function 2. At the molecular level, HOXA13 operates through phase-separation-dependent mechanisms that organize transcriptional condensates; disease-associated repeat expansions alter this capacity and dysregulate target gene expression 3. Beyond development, HOXA13 demonstrates clinical significance in reproductive pathology, where dysregulated expression of HOXA13 and its transcriptional targets (PARVA, TFAP2A, PHTF2) associates with recurrent implantation failure and pre-eclampsia 4. In cancer, elevated HOXA13 expression correlates with poor prognosis, increased lymph node metastasis, and advanced TNM staging across solid tumors 5. Recent evidence indicates HOXA13 promotes hepatocyte proliferation and liver regeneration through BMP-7 upregulation, suggesting therapeutic potential in liver injury treatment 6.

Sources cited
1
HOXA13 controls genitourinary region growth and development through cellular and molecular mechanisms
PMID: 16002988
2
HOXA13 mutations cause Hand-Foot-Genital syndrome and affect multiple developmental systems
PMID: 11206481
3
HOXA13 repeat expansions alter phase separation capacity and transcriptional condensate composition
PMID: 32386547
4
HOXA13 and its targets are dysregulated in recurrent implantation failure and pre-eclampsia
PMID: 40020429
5
High HOXA13 expression associates with poor overall survival and advanced cancer staging
PMID: 29678634
6
HOXA13 promotes hepatocyte proliferation and liver regeneration by upregulating BMP-7
PMID: 35868069
Disease Associationsβ“˜22
hand-foot-genital syndromeOpen Targets
0.83Strong
Guttmacher syndromeOpen Targets
0.66Moderate
polydactylyOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
gliomatosis cerebriOpen Targets
0.37Weak
esophageal squamous cell carcinomaOpen Targets
0.30Weak
urinary bladder carcinomaOpen Targets
0.30Weak
lung adenocarcinomaOpen Targets
0.30Weak
esophageal adenocarcinomaOpen Targets
0.29Weak
hepatocellular carcinomaOpen Targets
0.29Weak
gastric carcinomaOpen Targets
0.28Weak
melanomaOpen Targets
0.28Weak
pancreatic ductal adenocarcinomaOpen Targets
0.28Weak
anaplastic oligodendrogliomaOpen Targets
0.28Weak
bile duct carcinomaOpen Targets
0.28Weak
colon adenocarcinomaOpen Targets
0.28Weak
gastric adenocarcinomaOpen Targets
0.28Weak
lung carcinomaOpen Targets
0.28Weak
prostate adenocarcinomaOpen Targets
0.28Weak
skin squamous cell carcinomaOpen Targets
0.28Weak
Guttmacher syndromeUniProt
Hand-foot-genital syndromeUniProt
Pathogenic Variants11
NM_000522.5(HOXA13):c.837G>A (p.Trp279Ter)Likely pathogenic
Guttmacher syndrome;Hand-foot-genital syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 279
NM_000522.5(HOXA13):c.423_424delinsA (p.Ala142fs)Likely pathogenic
Guttmacher syndrome;Hand-foot-genital syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 142
NM_000522.5(HOXA13):c.741dup (p.Gly248fs)Likely pathogenic
Hand-foot-genital syndrome
β˜…β˜†β˜†β˜†2020β†’ Residue 248
NM_000522.5(HOXA13):c.730C>T (p.Gln244Ter)Pathogenic
Hand-foot-genital syndrome;Guttmacher syndrome
β˜…β˜†β˜†β˜†β†’ Residue 244
NM_000522.5(HOXA13):c.355_406dup (p.Ser136fs)Pathogenic
Hand-foot-genital syndrome
β˜†β˜†β˜†β˜†2007β†’ Residue 136
NM_000522.5(HOXA13):c.366_392dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAlaAlaAlaAla)Pathogenic
Hand-foot-genital syndrome
β˜†β˜†β˜†β˜†2002β†’ Residue 133
NM_000522.5(HOXA13):c.360_377dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAla)Pathogenic
Hand-foot-genital syndrome
β˜†β˜†β˜†β˜†2002β†’ Residue 133
NM_000522.5(HOXA13):c.1114A>C (p.Asn372His)Pathogenic
Hand-foot-genital syndrome
β˜†β˜†β˜†β˜†2000β†’ Residue 372
NM_000522.5(HOXA13):c.407C>A (p.Ser136Ter)Pathogenic
Hand-foot-genital syndrome
β˜†β˜†β˜†β˜†2000β†’ Residue 136
NM_000522.5(HOXA13):c.366_389dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAlaAlaAla)Pathogenic
Hand-foot-genital syndrome
β˜†β˜†β˜†β˜†2000β†’ Residue 133
NM_000522.5(HOXA13):c.1107G>A (p.Trp369Ter)Pathogenic
Hand-foot-genital syndrome
β˜†β˜†β˜†β˜†1970β†’ Residue 369
View on ClinVar β†—
Related Genes
HOXD13Shared pathway72%HOXA10Protein interaction62%HOXA11Protein interaction58%HOXB13Shared pathway33%PAPSS1Shared pathway33%SHOXShared pathway33%
Tissue Expression6 tissues
Brain
100%
Ovary
2%
Heart
0%
Bone Marrow
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
HOXA13HOXD13HOXA10HOXA11HOXB13PAPSS1SHOX
PROTEIN STRUCTURE
Preparing viewer…
PDB2L7Z Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.48Moderately Constrained
pLIβ“˜
0.98Intolerant
Observed/Expected LoF0.23 [0.12–0.48]
RankingsWhere HOXA13 stands among ~20K protein-coding genes
  • #4,527of 20,598
    Most Researched105 Β· top quartile
  • #2,751of 5,498
    Most Pathogenic Variants11
  • #2,827of 17,882
    Most Constrained (LOEUF)0.48 Β· top quartile
Genes detectedHOXA13
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Unblending of Transcriptional Condensates in Human Repeat Expansion Disease.
PMID: 32386547
Cell Β· 2020
1.00
2
PMID: 20301596
0.90
3
HOXA9 and HOXA13 along with their shared gene targets act as common immune biomarkers in recurrent implantation failure and pre-eclampsia.
PMID: 40020429
Hum Immunol Β· 2025
0.80
4
The prognostic value of HOXA13 in solid tumors: A meta-analysis.
PMID: 29678634
Clin Chim Acta Β· 2018
0.70
5
Genitourinary functions of Hoxa13 and Hoxd13.
PMID: 16002988
J Biochem Β· 2005
0.60