Seroatlas · Human Serome Atlas

SHANK3

SH3 and multiple ankyrin repeat domains protein 3

Also known as: SHAN3_HUMAN

Cross-references: UniProt · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9BYB0
Gene: SHANK3
Canonical length: 1806 aa
Protein class: Human disease related genes, Predicted intracellular proteins
Quaternary structure: Homomultimer

OverviewNCBI Gene

No narrative summary is available for SHANK3 in this catalog release; identity and structured annotations are shown without generated factual claims.

Canonical amino-acid sequenceUniProt

1806 residues, UniProt reviewed canonical sequence.

>Q9BYB0|SHANK3
     1  MQLSRAAAAA AAAPAEPPEP LSPAPAPAPA PPGPLPRSAA DGAPAGGKGG PGRRAESPGA
    61  PFPGASGPGP GPGAGMDGPG ASAVVVRVGI PDLQQTKCLR LDPAAPVWAA KQRVLCALNH
   121  SLQDALNYGL FQPPSRGRAG KFLDEERLLQ EYPPNLDTPL PYLEFRYKRR VYAQNLIDDK
   181  QFAKLHTKAN LKKFMDYVQL HSTDKVARLL DKGLDPNFHD PDSGECPLSL AAQLDNATDL
   241  LKVLKNGGAH LDFRTRDGLT AVHCATRQRN AAALTTLLDL GASPDYKDSR GLTPLYHSAL
   301  GGGDALCCEL LLHDHAQLGI TDENGWQEIH QACRFGHVQH LEHLLFYGAD MGAQNASGNT
   361  ALHICALYNQ ESCARVLLFR GANRDVRNYN SQTAFQVAII AGNFELAEVI KTHKDSDVVP
   421  FRETPSYAKR RRLAGPSGLA SPRPLQRSAS DINLKGEAQP AASPGPSLRS LPHQLLLQRL
   481  QEEKDRDRDA DQESNISGPL AGRAGQSKIS PSGPGGPGPA PGPGPAPPAP PAPPPRGPKR
   541  KLYSAVPGRK FIAVKAHSPQ GEGEIPLHRG EAVKVLSIGE GGFWEGTVKG RTGWFPADCV
   601  EEVQMRQHDT RPETREDRTK RLFRHYTVGS YDSLTSHSDY VIDDKVAVLQ KRDHEGFGFV
   661  LRGAKAETPI EEFTPTPAFP ALQYLESVDV EGVAWRAGLR TGDFLIEVNG VNVVKVGHKQ
   721  VVALIRQGGN RLVMKVVSVT RKPEEDGARR RAPPPPKRAP STTLTLRSKS MTAELEELAS
   781  IRRRKGEKLD EMLAAAAEPT LRPDIADADS RAATVKQRPT SRRITPAEIS SLFERQGLPG
   841  PEKLPGSLRK GIPRTKSVGE DEKLASLLEG RFPRSTSMQD PVREGRGIPP PPQTAPPPPP
   901  APYYFDSGPP PAFSPPPPPG RAYDTVRSSF KPGLEARLGA GAAGLYEPGA ALGPLPYPER
   961  QKRARSMIIL QDSAPESGDA PRPPPAATPP ERPKRRPRPP GPDSPYANLG AFSASLFAPS
  1021  KPQRRKSPLV KQLQVEDAQE RAALAVGSPG PGGGSFAREP SPTHRGPRPG GLDYGAGDGP
  1081  GLAFGGPGPA KDRRLEERRR STVFLSVGAI EGSAPGADLP SLQPSRSIDE RLLGTGPTAG
  1141  RDLLLPSPVS ALKPLVSGPS LGPSGSTFIH PLTGKPLDPS SPLALALAAR ERALASQAPS
  1201  RSPTPVHSPD ADRPGPLFVD VQARDPERGS LASPAFSPRS PAWIPVPARR EAEKVPREER
  1261  KSPEDKKSMI LSVLDTSLQR PAGLIVVHAT SNGQEPSRLG GAEEERPGTP ELAPAPMQSA
  1321  AVAEPLPSPR AQPPGGTPAD AGPGQGSSEE EPELVFAVNL PPAQLSSSDE ETREELARIG
  1381  LVPPPEEFAN GVLLATPLAG PGPSPTTVPS PASGKPSSEP PPAPESAADS GVEEADTRSS
  1441  SDPHLETTST ISTVSSMSTL SSESGELTDT HTSFADGHTF LLEKPPVPPK PKLKSPLGKG
  1501  PVTFRDPLLK QSSDSELMAQ QHHAASAGLA SAAGPARPRY LFQRRSKLWG DPVESRGLPG
  1561  PEDDKPTVIS ELSSRLQQLN KDTRSLGEEP VGGLGSLLDP AKKSPIAAAR LFSSLGELSS
  1621  ISAQRSPGGP GGGASYSVRP SGRYPVARRA PSPVKPASLE RVEGLGAGAG GAGRPFGLTP
  1681  PTILKSSSLS IPHEPKEVRF VVRSVSARSR SPSPSPLPSP ASGPGPGAPG PRRPFQQKPL
  1741  QLWSKFDVGD WLESIHLGEH RDRFEDHEIE GAHLPALTKD DFVELGVTRV GHRMNIERAL
  1801  RQLDGS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SHANK3 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): 0.55
Highest tissue expression: 156 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 156 nTPM
spleen: 120 nTPM
cerebral cortex: 74 nTPM
hippocampal formation: 68 nTPM
breast: 64 nTPM
adipose tissue: 60 nTPM

Single-cell type

brain excitatory neurons: 70 nCPM
oligodendrocytes: 60 nCPM
vascular endothelial cells: 46 nCPM
ependymal cells: 41 nCPM
brain inhibitory neurons: 41 nCPM
oligodendrocyte progenitor cells: 40 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

cerebral cortex: 255 nTPM
cerebellum: 251 nTPM
hippocampal formation: 247 nTPM
amygdala: 221 nTPM
basal ganglia: 187 nTPM
thalamus: 183 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SHANK3.

Disease | AllUniProt

Conditions SHANK3 is implicated in, by any mechanism.

Phelan-McDermid syndrome (PHMDS) MIM:606232
Schizophrenia 15 (SCZD15) MIM:613950

Disease | GeneticClinVar

200 pathogenic / likely-pathogenic of 1,129 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Phelan-McDermid syndrome
Inborn genetic diseases
Intellectual disability
Schizophrenia 15
SHANK3-related disorder

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): 0.12
gnomAD pLI: 1
gnomAD missense Z: 3.74

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 SHANK3 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 SHANK3 as an antibody target. Whether an autoantibody or antibody against SHANK3 could matter depends on whether native SHANK3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SHANK3 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 SHANK3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...