Seroatlas · Human Serome Atlas

PITX3

Pituitary homeobox 3

Also known as: ASMD, PITX3_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
O75364
Gene
PITX3
Ensembl
ENSG00000107859
Chromosome
10
Canonical length
302 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

OverviewNCBI Gene

This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

302 residues, UniProt reviewed canonical sequence.

>O75364|PITX3
     1  MEFGLLSEAE ARSPALSLSD AGTPHPQLPE HGCKGQEHSD SEKASASLPG GSPEDGSLKK
    61  KQRRQRTHFT SQQLQELEAT FQRNRYPDMS TREEIAVWTN LTEARVRVWF KNRRAKWRKR
   121  ERSQQAELCK GSFAAPLGGL VPPYEEVYPG YSYGNWPPKA LAPPLAAKTF PFAFNSVNVG
   181  PLASQPVFSP PSSIAASMVP SAAAAPGTVP GPGALQGLGG GPPGLAPAAV SSGAVSCPYA
   241  SAAAAAAAAA SSPYVYRDPC NSSLASLRLK AKQHASFSYP AVHGPPPAAN LSPCQYAVER
   301  PV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PITX3 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)
0.64
Highest tissue expression
16 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 16 nTPM
  • tongue: 5.6 nTPM
  • midbrain: 3.3 nTPM
  • heart muscle: 1.4 nTPM
  • adipose tissue: 1.1 nTPM
  • testis: 0.9 nTPM

Single-cell type

  • early spermatids: 25 nCPM
  • myosatellite cells: 14 nCPM
  • myonuclei: 12 nCPM
  • late spermatids: 10 nCPM
  • breast myoepithelial cells: 5.2 nCPM
  • innate lymphoid cells: 2.6 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

  • midbrain: 12 nTPM
  • amygdala: 0.8 nTPM
  • thalamus: 0.4 nTPM
  • cerebral cortex: 0.3 nTPM
  • hippocampal formation: 0.3 nTPM
  • hypothalamus: 0.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PITX3.

Disease | AllUniProt

Conditions PITX3 is implicated in, by any mechanism.

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 93 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Cataract 11 multiple types
  • Cataract 11, posterior polar
  • Anterior segment dysgenesis 1
  • PITX3-related disorder
  • Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities

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)
0.48
gnomAD pLI
0.81
gnomAD missense Z
1.5
DepMap mean gene effect
-0.06
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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

InteractionsUniProt · HPA

Protein binding partners of PITX3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PITX3 as an antibody target. Whether an autoantibody or antibody against PITX3 could matter depends on whether native PITX3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PITX3 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 PITX3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PITX3. 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).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...