Seroatlas · Human Serome Atlas

SHANK2

SH3 and multiple ankyrin repeat domains protein 2

Also known as: CORTBP1, CTTNBP1, ProSAP1, SHAN2_HUMAN, SHANK, SPANK-3

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

Protein identityUniProt · HPA

UniProt accession
Q9UPX8
Gene
SHANK2
Ensembl
ENSG00000162105
Chromosome
11
Canonical length
1849 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nuclear speckles,Vesicles,Plasma membrane

OverviewNCBI Gene

This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

Canonical amino-acid sequenceUniProt

1849 residues, UniProt reviewed canonical sequence.

>Q9UPX8|SHANK2
     1  MPRSPTSSED EMAQSFSDYS VGSESDSSKE ETIYDTIRAT AEKPGGARTE ESQGNTLVIR
    61  VVIHDLQQTK CIRFNPDATV WVAKQRILCT LTQSLKDVLN YGLFQPASNG RDGKFLDEER
   121  LLREYPQPVG EGVPSLEFRY KKRVYKQASL DEKQLAKLHT KTNLKKCMDH IQHRLVEKIT
   181  KMLDRGLDPN FHDPETGETP LTLAAQLDDS VEVIKALKNG GAHLDFRAKD GMTALHKAAR
   241  ARNQVALKTL LELGASPDYK DSYGLTPLYH TAIVGGDPYC CELLLHEHAT VCCKDENGWH
   301  EIHQACRYGH VQHLEHLLFY GADMSAQNAS GNTALHICAL YNQDSCARVL LFRGGNKELK
   361  NYNSQTPFQV AIIAGNFELA EYIKNHKETD IVPFREAPAY SNRRRRPPNT LAAPRVLLRS
   421  NSDNNLNASA PDWAVCSTAT SHRSLSPQLL QQMPSKPEGA AKTIGSYVPG PRSRSPSLNR
   481  LGGAGEDGKR PQPLWHVGSP FALGANKDSL SAFEYPGPKR KLYSAVPGRL FVAVKPYQPQ
   541  VDGEIPLHRG DRVKVLSIGE GGFWEGSARG HIGWFPAECV EEVQCKPRDS QAETRADRSK
   601  KLFRHYTVGS YDSFDTSSDC IIEEKTVVLQ KKDNEGFGFV LRGAKADTPI EEFTPTPAFP
   661  ALQYLESVDE GGVAWQAGLR TGDFLIEVNN ENVVKVGHRQ VVNMIRQGGN HLVLKVVTVT
   721  RNLDPDDTAR KKAPPPPKRA PTTALTLRSK SMTSELEELV DKASVRKKKD KPEEIVPASK
   781  PSRAAENMAV EPRVATIKQR PSSRCFPAGS DMNSVYERQG IAVMTPTVPG SPKAPFLGIP
   841  RGTMRRQKSI DSRIFLSGIT EEERQFLAPP MLKFTRSLSM PDTSEDIPPP PQSVPPSPPP
   901  PSPTTYNCPK SPTPRVYGTI KPAFNQNSAA KVSPATRSDT VATMMREKGM YFRRELDRYS
   961  LDSEDLYSRN AGPQANFRNK RGQMPENPYS EVGKIASKAV YVPAKPARRK GMLVKQSNVE
  1021  DSPEKTCSIP IPTIIVKEPS TSSSGKSSQG SSMEIDPQAP EPPSQLRPDE SLTVSSPFAA
  1081  AIAGAVRDRE KRLEARRNSP AFLSTDLGDE DVGLGPPAPR TRPSMFPEEG DFADEDSAEQ
  1141  LSSPMPSATP REPENHFVGG AEASAPGEAG RPLNSTSKAQ GPESSPAVPS ASSGTAGPGN
  1201  YVHPLTGRLL DPSSPLALAL SARDRAMKES QQGPKGEAPK ADLNKPLYID TKMRPSLDAG
  1261  FPTVTRQNTR GPLRRQETEN KYETDLGRDR KGDDKKNMLI DIMDTSQQKS AGLLMVHTVD
  1321  ATKLDNALQE EDEKAEVEMK PDSSPSEVPE GVSETEGALQ ISAAPEPTTV PGRTIVAVGS
  1381  MEEAVILPFR IPPPPLASVD LDEDFIFTEP LPPPLEFANS FDIPDDRAAS VPALSDLVKQ
  1441  KKSDTPQSPS LNSSQPTNSA DSKKPASLSN CLPASFLPPP ESFDAVADSG IEEVDSRSSS
  1501  DHHLETTSTI STVSSISTLS SEGGENVDTC TVYADGQAFM VDKPPVPPKP KMKPIIHKSN
  1561  ALYQDALVEE DVDSFVIPPP APPPPPGSAQ PGMAKVLQPR TSKLWGDVTE IKSPILSGPK
  1621  ANVISELNSI LQQMNREKLA KPGEGLDSPM GAKSASLAPR SPEIMSTISG TRSTTVTFTV
  1681  RPGTSQPITL QSRPPDYESR TSGTRRAPSP VVSPTEMNKE TLPAPLSAAT ASPSPALSDV
  1741  FSLPSQPPSG DLFGLNPAGR SRSPSPSILQ QPISNKPFTT KPVHLWTKPD VADWLESLNL
  1801  GEHKEAFMDN EIDGSHLPNL QKEDLIDLGV TRVGHRMNIE RALKQLLDR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SHANK2 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)
0.55
Highest tissue expression
9.8 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 9.8 nTPM
  • salivary gland: 8.4 nTPM
  • amygdala: 7.7 nTPM
  • basal ganglia: 7.3 nTPM
  • hippocampal formation: 7 nTPM
  • pancreas: 6.1 nTPM

Single-cell type

  • choroid plexus epithelial cells: 1,257 nCPM
  • retinal horizontal cells: 1,060 nCPM
  • respiratory ciliated cells: 648 nCPM
  • renal collecting duct intercalated cells: 600 nCPM
  • ependymal cells: 597 nCPM
  • proximal tubule cells: 564 nCPM

Immune cell

  • basophil: 0.3 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • choroid plexus: 97 nTPM
  • cerebral cortex: 55 nTPM
  • hippocampal formation: 53 nTPM
  • amygdala: 51 nTPM
  • basal ganglia: 47 nTPM
  • white matter: 37 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SHANK2.

Disease | AllUniProt

Conditions SHANK2 is implicated in, by any mechanism.

Disease | GeneticClinVar

45 pathogenic / likely-pathogenic of 498 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)
0.46
gnomAD pLI
0
gnomAD missense Z
2.32

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 SHANK2 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 SHANK2 as an antibody target. Whether an autoantibody or antibody against SHANK2 could matter depends on whether native SHANK2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SHANK2 is annotated at the cell surface, where native SHANK2 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 SHANK2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SHANK2. 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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