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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SHISA6
shisa family member 6
Chromosome 17 · 17p12
NCBI Gene: 388336Ensembl: ENSG00000188803.15HGNC: HGNC:34491UniProt: Q6ZSJ9
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingionotropic glutamate receptor bindingspermatogenesisregulation of short-term neuronal synaptic plasticitysmoking initiationrisk-taking behaviourskin diseaseCOVID-19
✦AI Summary

SHISA6 (also known as CKAMP52) is an AMPA receptor auxiliary protein that functions as a single transmembrane protein with a PDZ domain ligand 1. Its primary role is maintaining high-frequency synaptic transmission at hippocampal CA3-CA1 synapses by stabilizing AMPA-type glutamate receptors (AMPARs) at postsynaptic densities 1. SHISA6 binds directly to PSD-95, constraining AMPAR mobility in the plasma membrane and preventing their desensitization during sustained synaptic activity 1. This mechanism prolongs miniature excitatory postsynaptic current decay times and protects AMPARs from synaptic depression 1. Beyond synaptic function, SHISA6 has emerging roles in disease susceptibility. Genetic variants in SHISA6 associate with delayed cognitive impairment onset in two independent datasets, with the chromosome 17 association being genome-wide significant and biologically plausible given SHISA6's involvement in hippocampal post-synaptic transmission 2. In the reward circuitry, SHISA6 is selectively upregulated in D1-medium spiny neurons of the nucleus accumbens in depression-susceptible mice, where it increases neuronal excitability and promotes depression-like behaviors 3. SHISA6 variants also associate with irritable bowel syndrome susceptibility as a candidate gene identified through genome-wide meta-analysis 4.

Sources cited
1
SHISA6 is an AMPAR auxiliary subunit that binds PSD-95, traps AMPARs at postsynaptic sites, prevents desensitization, and protects against synaptic depression at high-frequency transmission
PMID: 26931375
2
SHISA6 genetic variants (rs146729640) associate with delayed cognitive impairment age at onset in two independent family datasets and are biologically plausible for Alzheimer's disease
PMID: 35490390
3
Shisa6 is selectively increased in D1-medium spiny neurons of the nucleus accumbens in depression-susceptible mice and promotes anxiety- and depression-like behaviors by increasing neuronal excitability
PMID: 34253865
4
SHISA6 is identified as a candidate gene at one of seven novel irritable bowel syndrome risk loci through genome-wide meta-analysis
PMID: 39166955
5
SHISA6 (CKAMP52) is a member of the CKAMP family of AMPA receptor auxiliary proteins that influence receptor trafficking, subcellular localization, and function
PMID: 30909450
Disease Associationsⓘ20
smoking initiationOpen Targets
0.42Moderate
risk-taking behaviourOpen Targets
0.34Weak
skin diseaseOpen Targets
0.32Weak
COVID-19Open Targets
0.32Weak
insomniaOpen Targets
0.32Weak
irritable bowel syndromeOpen Targets
0.32Weak
schizophreniaOpen Targets
0.30Weak
myopiaOpen Targets
0.30Weak
endocarditisOpen Targets
0.29Weak
alcohol drinkingOpen Targets
0.29Weak
refractive errorOpen Targets
0.28Weak
neurodegenerative diseaseOpen Targets
0.28Weak
HypermetropiaOpen Targets
0.27Weak
ocular hypotensionOpen Targets
0.27Weak
Non-Neoplastic Bile Duct DisorderOpen Targets
0.26Weak
developmental dysplasia of the hipOpen Targets
0.24Weak
Abnormality of refractionOpen Targets
0.23Weak
Abruptio PlacentaeOpen Targets
0.20Weak
respiratory system diseaseOpen Targets
0.20Weak
placenta praeviaOpen Targets
0.20Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CACNG8Protein interaction91%DLG4Protein interaction90%CACNG2Protein interaction76%CNIH2Protein interaction72%TLE7Shared pathway20%TPBGLShared pathway20%
Tissue Expression6 tissues
Brain
100%
Heart
18%
Ovary
8%
Lung
1%
Bone Marrow
1%
Liver
0%
Gene Interaction Network
Click a node to explore
SHISA6CACNG8DLG4CACNG2CNIH2TLE7TPBGL
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6ZSJ9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.69LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.47 [0.33–0.69]
RankingsWhere SHISA6 stands among ~20K protein-coding genes
  • #15,991of 20,598
    Most Researched14
  • #5,141of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedSHISA6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Epigenetic and Tumor Microenvironment for Prognosis of Patients with Gastric Cancer.
PMID: 37238607
Biomolecules · 2023
1.00
2
Expression Profiling of Coding and Noncoding RNAs in the Endometrium of Patients with Endometriosis.
PMID: 39408909
Int J Mol Sci · 2024
0.90
3
Association between ZIC2, RASGRF1, and SHISA6 genes and high myopia in Japanese subjects.
PMID: 24150758
Invest Ophthalmol Vis Sci · 2013
0.80
4
Genetic variants in the SHISA6 gene are associated with delayed cognitive impairment in two family datasets.
PMID: 35490390
Alzheimers Dement · 2023
0.70
5
Shisa6 mediates cell-type specific regulation of depression in the nucleus accumbens.
PMID: 34253865
Mol Psychiatry · 2021
0.60