Seroatlas · Human Serome Atlas

APC2

Adenomatous polyposis coli protein 2

Also known as: APCL, APCL_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: O95996
Gene: APC2
Ensembl: ENSG00000115266
Chromosome: 19
Canonical length: 2303 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Cytokinetic bridge,Midbody,Cytosol

OverviewNCBI Gene

This gene encodes a strongly conserved protein that has an N-terminal coiled-coil domain followed by an armadillo domain, five 20-amino acid repeats, and two SAMP domains. This protein promotes the assembly of a multiprotein complex that recruits and phosphorylates the Wnt effector beta-catenin and targets beta-catenin for ubiquitylation and proteasomal degradation. This protein therefore plays a role in the reduction of cytoplasmic levels of beta-catenin which in turn reduces activation of Wnt target genes that play a pivotal role in the pathogenesis of various human cancers. The protein encoded by this gene is closely related to the adenomatous polyposis coli (APC) tumor-suppressor protein and has similar tumor-suppressor effects. This gene also plays a role in actin assembly, cell-cell adhesion, and microtubule network formation through its interaction with cytoskeletal proteins. This gene has its highest expression in the central nervous system and is involved in brain development through cytoskeletal regulation in neurons. Alternative splicing produces multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2017]

Canonical amino-acid sequenceUniProt

2303 residues, UniProt reviewed canonical sequence.

>O95996|APC2
     1  MASSVAPYEQ LVRQVEALKA ENSHLRQELR DNSSHLSKLE TETSGMKEVL KHLQGKLEQE
    61  ARVLVSSGQT EVLEQLKALQ MDITSLYNLK FQPPTLGPEP AARTPEGSPV HGSGPSKDSF
   121  GELSRATIRL LEELDRERCF LLNEIEKEEK EKLWYYSQLQ GLSKRLDELP HVETQFSMQM
   181  DLIRQQLEFE AQHIRSLMEE RFGTSDEMVQ RAQIRASRLE QIDKELLEAQ DRVQQTEPQA
   241  LLAVKSVPVD EDPETEVPTH PEDGTPQPGN SKVEVVFWLL SMLATRDQED TARTLLAMSS
   301  SPESCVAMRR SGCLPLLLQI LHGTEAAAGG RAGAPGAPGA KDARMRANAA LHNIVFSQPD
   361  QGLARKEMRV LHVLEQIRAY CETCWDWLQA RDGGPEGGGA GSAPIPIEPQ ICQATCAVMK
   421  LSFDEEYRRA MNELGGLQAV AELLQVDYEM HKMTRDPLNL ALRRYAGMTL TNLTFGDVAN
   481  KATLCARRGC MEAIVAQLAS DSEELHQVVS SILRNLSWRA DINSKKVLRE AGSVTALVQC
   541  VLRATKESTL KSVLSALWNL SAHSTENKAA ICQVDGALGF LVSTLTYKCQ SNSLAIIESG
   601  GGILRNVSSL VATREDYRQV LRDHNCLQTL LQHLTSHSLT IVSNACGTLW NLSARSARDQ
   661  ELLWDLGAVG MLRNLVHSKH KMIAMGSAAA LRNLLAHRPA KHQAAATAVS PGSCVPSLYV
   721  RKQRALEAEL DARHLAQALE HLEKQGPPAA EAATKKPLPP LRHLDGLAQD YASDSGCFDD
   781  DDAPSSLAAA AATGEPASPA ALSLFLGSPF LQGQALARTP PTRRGGKEAE KDTSGEAAVA
   841  AKAKAKLALA VARIDQLVED ISALHTSSDD SFSLSSGDPG QEAPREGRAQ SCSPCRGPEG
   901  GRREAGSRAH PLLRLKAAHA SLSNDSLNSG SASDGYCPRE HMLPCPLAAL ASRREDPRCG
   961  QPRPSRLDLD LPGCQAEPPA REATSADARV RTIKLSPTYQ HVPLLEGASR AGAEPLAGPG
  1021  ISPGARKQAW LPADHLSKVP EKLAAAPLSV ASKALQKLAA QEGPLSLSRC SSLSSLSSAG
  1081  RPGPSEGGDL DDSDSSLEGL EEAGPSEAEL DSTWRAPGAT SLPVAIPAPR RNRGRGLGVE
  1141  DATPSSSSEN YVQETPLVLS RCSSVSSLGS FESPSIASSI PSEPCSGQGS GTISPSELPD
  1201  SPGQTMPPSR SKTPPLAPAP QGPPEATQFS LQWESYVKRF LDIADCRERC RLPSELDAGS
  1261  VRFTVEKPDE NFSCASSLSA LALHEHYVQQ DVELRLLPSA CPERGGGAGG AGLHFAGHRR
  1321  REEGPAPTGS RPRGAADQEL ELLRECLGAA VPARLRKVAS ALVPGRRALP VPVYMLVPAP
  1381  APAQEDDSCT DSAEGTPVNF SSAASLSDET LQGPPRDQPG GPAGRQRPTG RPTSARQAMG
  1441  HRHKAGGAGR SAEQSRGAGK NRAGLELPLG RPPSAPADKD GSKPGRTRGD GALQSLCLTT
  1501  PTEEAVYCFY GNDSDEEPPA AAPTPTHRRT SAIPRAFTRE RPQGRKEAPA PSKAAPAAPP
  1561  PARTQPSLIA DETPPCYSLS SSASSLSEPE PSEPPAVHPR GREPAVTKDP GPGGGRDSSP
  1621  SPRAAEELLQ RCISSALPRR RPPVSGLRRR KPRATRLDER PAEGSRERGE EAAGSDRASD
  1681  LDSVEWRAIQ EGANSIVTWL HQAAAATREA SSESDSILSF VSGLSVGSTL QPPKHRKGRQ
  1741  AEGEMGSARR PEKRGAASVK TSGSPRSPAG PEKPRGTQKT TPGVPAVLRG RTVIYVPSPA
  1801  PRAQPKGTPG PRATPRKVAP PCLAQPAAPA KVPSPGQQRS RSLHRPAKTS ELATLSQPPR
  1861  SATPPARLAK TPSSSSSQTS PASQPLPRKR PPVTQAAGAL PGPGASPVPK TPARTLLAKQ
  1921  HKTQRSPVRI PFMQRPARRG PPPLARAVPE PGPRGRAGTE AGPGARGGRL GLVRVASALS
  1981  SGSESSDRSG FRRQLTFIKE SPGLRRRRSE LSSAESAASA PQGASPRRGR PALPAVFLCS
  2041  SRCEELRAAP RQGPAPARQR PPAARPSPGE RPARRTTSES PSRLPVRAPA ARPETVKRYA
  2101  SLPHISVARR PDGAVPAAPA SADAARRSSD GEPRPLPRVA APGTTWRRIR DEDVPHILRS
  2161  TLPATALPLR GSTPEDAPAG PPPRKTSDAV VQTEEVAAPK TNSSTSPSLE TREPPGAPAG
  2221  GQLSLLGSDV DGPSLAKAPI SAPFVHEGLG VAVGGFPASR HGSPSRSARV PPFNYVPSPM
  2281  VVAATTDSAA EKAPATASAT LLE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against APC2 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): 0.57
Highest tissue expression: 48 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 48 nTPM
cerebellum: 43 nTPM
amygdala: 36 nTPM
hippocampal formation: 34 nTPM
basal ganglia: 32 nTPM
midbrain: 27 nTPM

Single-cell type

astrocytes: 177 nCPM
bergmann glia: 105 nCPM
retinal amacrine cells: 95 nCPM
adrenal medulla cells: 85 nCPM
oligodendrocyte progenitor cells: 58 nCPM
müller glia: 58 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

medulla oblongata: 243 nTPM
thalamus: 219 nTPM
pons: 219 nTPM
white matter: 205 nTPM
midbrain: 200 nTPM
amygdala: 194 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about APC2.

Disease | AllUniProt

Conditions APC2 is implicated in, by any mechanism.

Intellectual developmental disorder, autosomal recessive 74 (MRT74) MIM:617169
Cortical dysplasia, complex, with other brain malformations 10 (CDCBM10) MIM:618677

Disease | GeneticClinVar

25 pathogenic / likely-pathogenic of 1,228 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Cortical dysplasia, complex, with other brain malformations 10
Intellectual developmental disorder, autosomal recessive 74
APC2-related disorder
Esophageal atresia/tracheoesophageal fistula

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): 0.23
gnomAD pLI: 1
gnomAD missense Z: 0.75
DepMap mean gene effect: -0.13
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 APC2 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 APC2 as an antibody target. Whether an autoantibody or antibody against APC2 could matter depends on whether native APC2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

APC2 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 APC2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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