Seroatlas · Human Serome Atlas

MATN3

Matrilin-3

Also known as: EDM5, HOA, MATN3_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
O15232
Gene
MATN3
Ensembl
ENSG00000132031
Chromosome
2
Canonical length
486 aa
Protein class
Disease related genes, Human disease related genes, Predicted secreted proteins
Subcellular location
Endoplasmic reticulum,Golgi apparatus,Vesicles
Secretome location
Secreted to extracellular matrix
Quaternary structure
Homooligomer

OverviewNCBI Gene

This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

486 residues, UniProt reviewed canonical sequence.

>O15232|MATN3
     1  MPRPAPARRL PGLLLLLWPL LLLPSAAPDP VARPGFRRLE TRGPGGSPGR RPSPAAPDGA
    61  PASGTSEPGR ARGAGVCKSR PLDLVFIIDS SRSVRPLEFT KVKTFVSRII DTLDIGPADT
   121  RVAVVNYAST VKIEFQLQAY TDKQSLKQAV GRITPLSTGT MSGLAIQTAM DEAFTVEAGA
   181  REPSSNIPKV AIIVTDGRPQ DQVNEVAARA QASGIELYAV GVDRADMASL KMMASEPLEE
   241  HVFYVETYGV IEKLSSRFQE TFCALDPCVL GTHQCQHVCI SDGEGKHHCE CSQGYTLNAD
   301  KKTCSALDRC ALNTHGCEHI CVNDRSGSYH CECYEGYTLN EDRKTCSAQD KCALGTHGCQ
   361  HICVNDRTGS HHCECYEGYT LNADKKTCSV RDKCALGSHG CQHICVSDGA ASYHCDCYPG
   421  YTLNEDKKTC SATEEARRLV STEDACGCEA TLAFQDKVSS YLQRLNTKLD DILEKLKINE
   481  YGQIHR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MATN3 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
Secreted
Secreted
Yes
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.39
Highest tissue expression
13 nTPM

Expression across tissuesHPA

Tissue

  • lung: 13 nTPM
  • placenta: 11 nTPM
  • midbrain: 5.2 nTPM
  • spinal cord: 5.2 nTPM
  • hippocampal formation: 4.3 nTPM
  • seminal vesicle: 4.3 nTPM

Single-cell type

  • alveolar cells type 1: 34 nCPM
  • breast lactating cells: 17 nCPM
  • pericytes: 13 nCPM
  • vascular smooth muscle cells: 12 nCPM
  • breast hormone-responsive cells: 9.1 nCPM
  • endometrial secretory cells: 7.5 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

  • thalamus: 13 nTPM
  • midbrain: 10 nTPM
  • amygdala: 7.9 nTPM
  • pons: 7.9 nTPM
  • medulla oblongata: 7.8 nTPM
  • spinal cord: 6.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MATN3.

Disease | AllUniProt

Conditions MATN3 is implicated in, by any mechanism.

  • Multiple epiphyseal dysplasia 5 (EDM5) MIM:607078
  • Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (SEMDBCD) MIM:608728
  • Osteoarthritis 2 (OS2) MIM:140600

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 386 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
1.25
gnomAD pLI
0
gnomAD missense Z
0.77
DepMap mean gene effect
0.02
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

InteractionsUniProt · HPA

Protein binding partners of MATN3 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 MATN3 as an antibody target. Whether an autoantibody or antibody against MATN3 could matter depends on whether native MATN3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MATN3 is annotated as secreted, so native MATN3 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label MATN3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MATN3. 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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