Seroatlas · Human Serome Atlas

MFAP5

Microfibrillar-associated protein 5

Also known as: MAGP2, MFAP5_HUMAN, MP25

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

Protein identityUniProt · HPA

UniProt accession: Q13361
Gene: MFAP5
Ensembl: ENSG00000197614
Chromosome: 12
Canonical length: 173 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted secreted proteins
Secretome location: Secreted to extracellular matrix

OverviewNCBI Gene

This gene encodes a 25-kD microfibril-associated glycoprotein which is a component of microfibrils of the extracellular matrix. The encoded protein promotes attachment of cells to microfibrils via alpha-V-beta-3 integrin. Deficiency of this gene in mice results in neutropenia. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]

Canonical amino-acid sequenceUniProt

173 residues, UniProt reviewed canonical sequence.

>Q13361|MFAP5
     1  MSLLGPKVLL FLAAFIITSD WIPLGVNSQR GDDVTQATPE TFTEDPNLVN DPATDETVLA
    61  VLADIAPSTD DLASLSEKNT TAECWDEKFT CTRLYSVHRP VKQCIHQLCF TSLRRMYIVN
   121  KEICSRLVCK EHEAMKDELC RQMAGLPPRR LRRSNYFRLP PCENVDLQRP NGL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MFAP5 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): 0.58
Highest tissue expression: 185 nTPM

Expression across tissuesHPA

Tissue

endometrium: 185 nTPM
adipose tissue: 136 nTPM
smooth muscle: 133 nTPM
tongue: 110 nTPM
placenta: 89 nTPM
blood vessel: 78 nTPM

Single-cell type

extravillous trophoblasts: 1,767 nCPM
fibroblasts: 759 nCPM
migrating cytotrophoblasts: 466 nCPM
fibro-adipogenic progenitors: 357 nCPM
syncytiotrophoblasts: 319 nCPM
cytotrophoblasts: 114 nCPM

Immune cell

basophil: 3 nTPM
neutrophil: 1.1 nTPM
classical monocyte: 0.8 nTPM
eosinophil: 0.7 nTPM
intermediate monocyte: 0.7 nTPM
non-classical monocyte: 0.6 nTPM

Brain region

cerebellum: 114 nTPM
cerebral cortex: 67 nTPM
white matter: 60 nTPM
basal ganglia: 55 nTPM
amygdala: 54 nTPM
medulla oblongata: 54 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MFAP5.

Disease | AllUniProt

Conditions MFAP5 is implicated in, by any mechanism.

Aortic aneurysm, familial thoracic 9 (AAT9) MIM:616166

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 328 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Familial thoracic aortic aneurysm and aortic dissection
Aortic aneurysm, familial thoracic 9

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): 0.85
gnomAD pLI: 0.01
gnomAD missense Z: 0.32
DepMap mean gene effect: -0.01
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

extracellular matrix structural constituent

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MFAP5 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 MFAP5 as an antibody target. Whether an autoantibody or antibody against MFAP5 could matter depends on whether native MFAP5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MFAP5 is annotated as secreted, so native MFAP5 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 MFAP5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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