Seroatlas · Human Serome Atlas

AFG3L2

Mitochondrial inner membrane m-AAA protease component AFG3L2

Also known as: AFG32_HUMAN, SCA28, SPAX5

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

Protein identityUniProt · HPA

UniProt accession
Q9Y4W6
Gene
AFG3L2
Ensembl
ENSG00000141385
Chromosome
18
Canonical length
797 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted membrane proteins
Subcellular location
Mitochondria,Perinuclear theca,Calyx,Connecting piece,Mid piece,Principal piece
Quaternary structure
Homohexamer

OverviewNCBI Gene

This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

797 residues, UniProt reviewed canonical sequence.

>Q9Y4W6|AFG3L2
     1  MAHRCLRLWG RGGCWPRGLQ QLLVPGGVGP GEQPCLRTLY RFVTTQARAS RNSLLTDIIA
    61  AYQRFCSRPP KGFEKYFPNG KNGKKASEPK EVMGEKKESK PAATTRSSGG GGGGGGKRGG
   121  KKDDSHWWSR FQKGDIPWDD KDFRMFFLWT ALFWGGVMFY LLLKRSGREI TWKDFVNNYL
   181  SKGVVDRLEV VNKRFVRVTF TPGKTPVDGQ YVWFNIGSVD TFERNLETLQ QELGIEGENR
   241  VPVVYIAESD GSFLLSMLPT VLIIAFLLYT IRRGPAGIGR TGRGMGGLFS VGETTAKVLK
   301  DEIDVKFKDV AGCEEAKLEI MEFVNFLKNP KQYQDLGAKI PKGAILTGPP GTGKTLLAKA
   361  TAGEANVPFI TVSGSEFLEM FVGVGPARVR DLFALARKNA PCILFIDEID AVGRKRGRGN
   421  FGGQSEQENT LNQLLVEMDG FNTTTNVVIL AGTNRPDILD PALLRPGRFD RQIFIGPPDI
   481  KGRASIFKVH LRPLKLDSTL EKDKLARKLA SLTPGFSGAD VANVCNEAAL IAARHLSDSI
   541  NQKHFEQAIE RVIGGLEKKT QVLQPEEKKT VAYHEAGHAV AGWYLEHADP LLKVSIIPRG
   601  KGLGYAQYLP KEQYLYTKEQ LLDRMCMTLG GRVSEEIFFG RITTGAQDDL RKVTQSAYAQ
   661  IVQFGMNEKV GQISFDLPRQ GDMVLEKPYS EATARLIDDE VRILINDAYK RTVALLTEKK
   721  ADVEKVALLL LEKEVLDKND MVELLGPRPF AEKSTYEEFV EGTGSLDEDT SLPEGLKDWN
   781  KEREKEKEEP PGEKVAN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AFG3L2 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
Other membrane
Secreted
No
Transmembrane segments
2
Mean surface accessibility (rSASA)
0.38
Highest tissue expression
97 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 97 nTPM
  • tongue: 93 nTPM
  • heart muscle: 49 nTPM
  • duodenum: 48 nTPM
  • parathyroid gland: 41 nTPM
  • colon: 39 nTPM

Single-cell type

  • thymic myoid cells: 158 nCPM
  • myonuclei: 150 nCPM
  • erythrocyte progenitors: 132 nCPM
  • cardiomyocytes: 131 nCPM
  • syncytiotrophoblasts: 116 nCPM
  • enteric transient amplifying cells: 108 nCPM

Immune cell

  • NK-cell: 27 nTPM
  • myeloid DC: 19 nTPM
  • naive CD8 T-cell: 19 nTPM
  • memory CD8 T-cell: 17 nTPM
  • naive CD4 T-cell: 16 nTPM
  • intermediate monocyte: 16 nTPM

Brain region

  • choroid plexus: 55 nTPM
  • thalamus: 33 nTPM
  • hypothalamus: 33 nTPM
  • pons: 33 nTPM
  • cerebral cortex: 32 nTPM
  • cerebellum: 31 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AFG3L2.

Disease | AllUniProt

Conditions AFG3L2 is implicated in, by any mechanism.

Disease | GeneticClinVar

67 pathogenic / likely-pathogenic of 598 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)
0.7
gnomAD pLI
0
gnomAD missense Z
1.99
DepMap mean gene effect
-1.21
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% 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 AFG3L2 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 AFG3L2 as an antibody target. Whether an autoantibody or antibody against AFG3L2 could matter depends on whether native AFG3L2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

AFG3L2 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 AFG3L2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/AFG3L2. 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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