Seroatlas · Human Serome Atlas

ACTN2

Alpha-actinin-2

Also known as: ACTN2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P35609
Gene
ACTN2
Ensembl
ENSG00000077522
Chromosome
1
Canonical length
894 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location
Actin filaments,Focal adhesion sites,Primary cilium,Primary cilium transition zone,Cytosol
Quaternary structure
Homodimer

OverviewNCBI Gene

Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]

Canonical amino-acid sequenceUniProt

894 residues, UniProt reviewed canonical sequence.

>P35609|ACTN2
     1  MNQIEPGVQY NYVYDEDEYM IQEEEWDRDL LLDPAWEKQQ RKTFTAWCNS HLRKAGTQIE
    61  NIEEDFRNGL KLMLLLEVIS GERLPKPDRG KMRFHKIANV NKALDYIASK GVKLVSIGAE
   121  EIVDGNVKMT LGMIWTIILR FAIQDISVEE TSAKEGLLLW CQRKTAPYRN VNIQNFHTSW
   181  KDGLGLCALI HRHRPDLIDY SKLNKDDPIG NINLAMEIAE KHLDIPKMLD AEDIVNTPKP
   241  DERAIMTYVS CFYHAFAGAE QAETAANRIC KVLAVNQENE RLMEEYERLA SELLEWIRRT
   301  IPWLENRTPE KTMQAMQKKL EDFRDYRRKH KPPKVQEKCQ LEINFNTLQT KLRISNRPAF
   361  MPSEGKMVSD IAGAWQRLEQ AEKGYEEWLL NEIRRLERLE HLAEKFRQKA STHETWAYGK
   421  EQILLQKDYE SASLTEVRAL LRKHEAFESD LAAHQDRVEQ IAAIAQELNE LDYHDAVNVN
   481  DRCQKICDQW DRLGTLTQKR REALERMEKL LETIDQLHLE FAKRAAPFNN WMEGAMEDLQ
   541  DMFIVHSIEE IQSLITAHEQ FKATLPEADG ERQSIMAIQN EVEKVIQSYN IRISSSNPYS
   601  TVTMDELRTK WDKVKQLVPI RDQSLQEELA RQHANERLRR QFAAQANAIG PWIQNKMEEI
   661  ARSSIQITGA LEDQMNQLKQ YEHNIINYKN NIDKLEGDHQ LIQEALVFDN KHTNYTMEHI
   721  RVGWELLLTT IARTINEVET QILTRDAKGI TQEQMNEFRA SFNHFDRRKN GLMDHEDFRA
   781  CLISMGYDLG EAEFARIMTL VDPNGQGTVT FQSFIDFMTR ETADTDTAEQ VIASFRILAS
   841  DKPYILAEEL RRELPPDQAQ YCIKRMPAYS GPGSVPGALD YAAFSSALYG ESDL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ACTN2 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)
0.29
Highest tissue expression
1,962 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 1,962 nTPM
  • tongue: 1,195 nTPM
  • heart muscle: 696 nTPM
  • basal ganglia: 37 nTPM
  • esophagus: 20 nTPM
  • salivary gland: 18 nTPM

Single-cell type

  • myonuclei: 2,582 nCPM
  • cardiomyocytes: 1,858 nCPM
  • thymic myoid cells: 1,051 nCPM
  • choroid plexus epithelial cells: 175 nCPM
  • oligodendrocytes: 128 nCPM
  • epicardial cells: 93 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

  • basal ganglia: 12 nTPM
  • cerebral cortex: 5.4 nTPM
  • white matter: 4 nTPM
  • hippocampal formation: 3 nTPM
  • hypothalamus: 3 nTPM
  • amygdala: 2.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ACTN2.

Disease | AllUniProt

Conditions ACTN2 is implicated in, by any mechanism.

  • Cardiomyopathy, familial hypertrophic, 23, with or without left ventricular non-compaction (CMH23) MIM:612158
  • Cardiomyopathy, dilated, 1AA, with or without left ventricular non-compaction (CMD1AA) MIM:612158
  • Congenital myopathy 8 (CMYO8) MIM:618654
  • Myopathy, distal, 6, adult onset, autosomal dominant (MPD6) MIM:618655

Disease | GeneticClinVar

26 pathogenic / likely-pathogenic of 1,838 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)
0.24
gnomAD pLI
1
gnomAD missense Z
1.29
DepMap mean gene effect
0.06
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 ACTN2 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 ACTN2 as an antibody target. Whether an autoantibody or antibody against ACTN2 could matter depends on whether native ACTN2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ACTN2 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 ACTN2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ACTN2. 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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