Seroatlas · Human Serome Atlas

APPL2

DCC-interacting protein 13-beta

Also known as: DIP13B, DP13B_HUMAN, FLJ10659

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

Protein identityUniProt · HPA

UniProt accession
Q8NEU8
Gene
APPL2
Ensembl
ENSG00000136044
Chromosome
12
Canonical length
664 aa
Protein class
Disease related genes, Predicted intracellular proteins
Subcellular location
Vesicles,Cytosol
Quaternary structure
Homotetramer

OverviewNCBI Gene

The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011]

Canonical amino-acid sequenceUniProt

664 residues, UniProt reviewed canonical sequence.

>Q8NEU8|APPL2
     1  MPAVDKLLLE EALQDSPQTR SLLSVFEEDA GTLTDYTNQL LQAMQRVYGA QNEMCLATQQ
    61  LSKQLLAYEK QNFALGKGDE EVISTLHYFS KVVDELNLLH TELAKQLADT MVLPIIQFRE
   121  KDLTEVSTLK DLFGLASNEH DLSMAKYSRL PKKKENEKVK TEVGKEVAAA RRKQHLSSLQ
   181  YYCALNALQY RKQMAMMEPM IGFAHGQINF FKKGAEMFSK RMDSFLSSVA DMVQSIQVEL
   241  EAEAEKMRVS QQELLSVDES VYTPDSDVAA PQINRNLIQK AGYLNLRNKT GLVTTTWERL
   301  YFFTQGGNLM CQPRGAVAGG LIQDLDNCSV MAVDCEDRRY CFQITTPNGK SGIILQAESR
   361  KENEEWICAI NNISRQIYLT DNPEAVAIKL NQTALQAVTP ITSFGKKQES SCPSQNLKNS
   421  EMENENDKIV PKATASLPEA EELIAPGTPI QFDIVLPATE FLDQNRGSRR TNPFGETEDE
   481  SFPEAEDSLL QQMFIVRFLG SMAVKTDSTT EVIYEAMRQV LAARAIHNIF RMTESHLMVT
   541  SQSLRLIDPQ TQVSRANFEL TSVTQFAAHQ ENKRLVGFVI RVPESTGEES LSTYIFESNS
   601  EGEKICYAIN LGKEIIEVQK DPEALAQLML SIPLTNDGKY VLLNDQPDDD DGNPNEHRGA
   661  ESEA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against APPL2 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
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.38
Highest tissue expression
63 nTPM

Expression across tissuesHPA

Tissue

  • skin: 63 nTPM
  • small intestine: 54 nTPM
  • rectum: 51 nTPM
  • colon: 51 nTPM
  • duodenum: 37 nTPM
  • prostate: 36 nTPM

Single-cell type

  • microglia: 417 nCPM
  • sertoli cells: 322 nCPM
  • bergmann glia: 238 nCPM
  • prostatic glandular cells: 229 nCPM
  • respiratory ciliated cells: 207 nCPM
  • colonocytes: 201 nCPM

Immune cell

  • neutrophil: 21 nTPM
  • eosinophil: 11 nTPM
  • non-classical monocyte: 6.2 nTPM
  • classical monocyte: 4.8 nTPM
  • NK-cell: 4.6 nTPM
  • intermediate monocyte: 3.7 nTPM

Brain region

  • cerebellum: 71 nTPM
  • white matter: 66 nTPM
  • medulla oblongata: 65 nTPM
  • thalamus: 63 nTPM
  • basal ganglia: 61 nTPM
  • hypothalamus: 60 nTPM

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)
1.09
gnomAD pLI
0
gnomAD missense Z
0.32
DepMap mean gene effect
-0.08
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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 APPL2 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 APPL2 as an antibody target. Whether an autoantibody or antibody against APPL2 could matter depends on whether native APPL2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

APPL2 is annotated at the cell surface, where native APPL2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label APPL2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/APPL2. 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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