Seroatlas · Human Serome Atlas

HOXA2

Homeobox protein Hox-A2

Also known as: HOX1K, HXA2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
O43364
Gene
HOXA2
Ensembl
ENSG00000105996
Chromosome
7
Canonical length
376 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location
Nucleoplasm,Vesicles

OverviewNCBI Gene

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. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

376 residues, UniProt reviewed canonical sequence.

>O43364|HOXA2
     1  MNYEFEREIG FINSQPSLAE CLTSFPPVAD TFQSSSIKTS TLSHSTLIPP PFEQTIPSLN
    61  PGSHPRHGAG GRPKPSPAGS RGSPVPAGAL QPPEYPWMKE KKAAKKTALL PAAAAAATAA
   121  ATGPACLSHK ESLEIADGSG GGSRRLRTAY TNTQLLELEK EFHFNKYLCR PRRVEIAALL
   181  DLTERQVKVW FQNRRMKHKR QTQCKENQNS EGKCKSLEDS EKVEEDEEEK TLFEQALSVS
   241  GALLEREGYT FQQNALSQQQ APNGHNGDSQ SFPVSPLTSN EKNLKHFQHQ SPTVPNCLST
   301  MGQNCGAGLN NDSPEALEVP SLQDFSVFST DSCLQLSDAV SPSLPGSLDS PVDISADSLD
   361  FFTDTLTTID LQHLNY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HOXA2 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)
0.67
Highest tissue expression
6.7 nTPM

Expression across tissuesHPA

Tissue

  • spinal cord: 6.7 nTPM
  • parathyroid gland: 5.3 nTPM
  • epididymis: 4.8 nTPM
  • blood vessel: 4.2 nTPM
  • fallopian tube: 3.8 nTPM
  • kidney: 3.5 nTPM

Single-cell type

  • epididymal efferent duct absorptive cells: 16 nCPM
  • tuft cells: 12 nCPM
  • epididymal efferent duct ciliated cells: 5.9 nCPM
  • epididymal basal cells: 5 nCPM
  • medullary thymic epithelial cells: 4.8 nCPM
  • breast myoepithelial cells: 4.3 nCPM

Immune cell

  • neutrophil: 0.1 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • spinal cord: 10 nTPM
  • medulla oblongata: 9.7 nTPM
  • white matter: 8.9 nTPM
  • pons: 6.5 nTPM
  • midbrain: 0.3 nTPM
  • thalamus: 0.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HOXA2.

Disease | AllUniProt

Conditions HOXA2 is implicated in, by any mechanism.

  • Microtia, hearing impairment, and cleft palate (MHICP) MIM:612290
  • Microtia with or without hearing impairment (MCRT) MIM:612290

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 108 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Bilateral microtia-deafness-cleft palate syndrome
  • HOXA2-related disorder
  • MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT
  • MICROTIA WITHOUT HEARING IMPAIRMENT
  • Hearing impairment

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)
0.7
gnomAD pLI
0.2
gnomAD missense Z
0.41
DepMap mean gene effect
0.05
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 HOXA2 as an antibody target. Whether an autoantibody or antibody against HOXA2 could matter depends on whether native HOXA2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HOXA2 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 HOXA2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/HOXA2. 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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