Seroatlas · Human Serome Atlas

HOXD13

Homeobox protein Hox-D13

Also known as: HOX4I, HXD13_HUMAN, SPD

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P35453
Gene
HOXD13
Ensembl
ENSG00000128714
Chromosome
2
Canonical length
343 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location
Nucleoplasm

OverviewNCBI Gene

This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. Mutations in this particular gene cause synpolydactyly. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

343 residues, UniProt reviewed canonical sequence.

>P35453|HOXD13
     1  MSRAGSWDMD GLRADGGGAG GAPASSSSSS VAAAAASGQC RGFLSAPVFA GTHSGRAAAA
    61  AAAAAAAAAA ASGFAYPGTS ERTGSSSSSS SSAVVAARPE APPAKECPAP TPAAAAAAPP
   121  SAPALGYGYH FGNGYYSCRM SHGVGLQQNA LKSSPHASLG GFPVEKYMDV SGLASSSVPA
   181  NEVPARAKEV SFYQGYTSPY QHVPGYIDMV STFGSGEPRH EAYISMEGYQ SWTLANGWNS
   241  QVYCTKDQPQ GSHFWKSSFP GDVALNQPDM CVYRRGRKKR VPYTKLQLKE LENEYAINKF
   301  INKDKRRRIS AATNLSERQV TIWFQNRRVK DKKIVSKLKD TVS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HOXD13 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.68
Highest tissue expression
16 nTPM

Expression across tissuesHPA

Tissue

  • colon: 16 nTPM
  • seminal vesicle: 15 nTPM
  • vagina: 15 nTPM
  • cervix: 12 nTPM
  • prostate: 9 nTPM
  • rectum: 7.2 nTPM

Single-cell type

  • basal prostatic cells: 18 nCPM
  • prostatic club cells: 17 nCPM
  • colonocytes: 11 nCPM
  • enteric transient amplifying cells: 10 nCPM
  • goblet cells: 9.5 nCPM
  • prostatic hillock cells: 8.5 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • cerebellum: 0.3 nTPM
  • pons: 0.3 nTPM
  • medulla oblongata: 0.1 nTPM
  • amygdala: 0 nTPM
  • basal ganglia: 0 nTPM
  • cerebral cortex: 0 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HOXD13.

Disease | AllUniProt

Conditions HOXD13 is implicated in, by any mechanism.

Disease | GeneticClinVar

34 pathogenic / likely-pathogenic of 190 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Synpolydactyly type 1
  • Syndactyly type 5
  • HOXD13-related disorder
  • Brachydactyly type D
  • Brachydactyly-syndactyly syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.95
gnomAD pLI
0.01
gnomAD missense Z
0.04
DepMap mean gene effect
-0.27
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads HOXD13 as an antibody target. Whether an autoantibody or antibody against HOXD13 could matter depends on whether native HOXD13 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HOXD13 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label HOXD13 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/HOXD13. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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