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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SHISA9
shisa family member 9
Chromosome 16 · 16p13.12
NCBI Gene: 729993Ensembl: ENSG00000237515.10HGNC: HGNC:37231UniProt: B4DS77
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
synapseionotropic glutamate receptor complexAMPA glutamate receptor complexdendritic spine membranemajor depressive disorderattention deficit hyperactivity disorderTinnitusautism spectrum disorder
✦AI Summary

SHISA9 is an auxiliary subunit of AMPA-type glutamate receptors that regulates short-term neuronal synaptic plasticity, primarily in the hippocampus and dentate gyrus 1. As a type-I transmembrane protein, SHISA9 associates with AMPA receptors in synaptic spines and modulates their physiological properties, particularly promoting AMPA receptor desensitization at excitatory synapses 2. The protein's C-terminal PDZ domain interacts with postsynaptic density scaffolding proteins, and disruption of these interactions alters glutamatergic synaptic currents and network activity 1. SHISA9 belongs to the CKAMP family of AMPA receptor-modulating proteins that influence receptor trafficking, subcellular localization, and function 2. SHISA9 is classified as a single-transmembrane adaptor protein with a cysteine-rich domain, suggesting broader regulatory roles in membrane protein trafficking 3. Clinically, SHISA9 has emerged as a disease-relevant gene across multiple psychiatric and other conditions. Genome-wide association studies identified SHISA9 as a schizophrenia risk locus 4, and transcriptomic analysis revealed marked downregulation of SHISA9 in paraventricular thalamic nucleus neurons from bipolar disorder patients 5. Additionally, SHISA9 variants are associated with periodontitis susceptibility 6 and appear in hepatocellular carcinoma prognostic signatures 7.

Sources cited
1
SHISA9 is an auxiliary subunit of AMPA receptors; its C-terminal PDZ domain interacts with postsynaptic density scaffolding proteins; disruption of these interactions affects AMPA receptor synaptic currents and network activity
PMID: 24498314
2
SHISA9 (CKAMP44) is one of four CKAMP family members that influence AMPA receptor trafficking, localization, and function
PMID: 30909450
3
SHISA9 is a single-transmembrane adaptor protein with conserved cysteine-rich N-terminal domain
PMID: 22120523
4
SHISA9 is identified as a schizophrenia risk locus in genome-wide association studies
PMID: 34380480
5
SHISA9 is markedly downregulated in paraventricular thalamic nucleus neurons from bipolar disorder patients
PMID: 41501055
6
SHISA9 variants are associated with periodontitis risk loci
PMID: 30218097
7
SHISA9 is included in a seven-gene signature for hepatocellular carcinoma prognosis
PMID: 35865652
Disease Associationsⓘ20
major depressive disorderOpen Targets
0.45Moderate
attention deficit hyperactivity disorderOpen Targets
0.40Weak
TinnitusOpen Targets
0.39Weak
autism spectrum disorderOpen Targets
0.38Weak
intelligenceOpen Targets
0.38Weak
bipolar disorderOpen Targets
0.37Weak
alcohol drinkingOpen Targets
0.36Weak
hyperpituitarismOpen Targets
0.32Weak
Tourette syndromeOpen Targets
0.32Weak
schizophreniaOpen Targets
0.32Weak
injuryOpen Targets
0.31Weak
obsessive-compulsive disorderOpen Targets
0.31Weak
anorexia nervosaOpen Targets
0.30Weak
Abnormal erythrocyte morphologyOpen Targets
0.29Weak
heart diseaseOpen Targets
0.29Weak
coronary artery diseaseOpen Targets
0.28Weak
obesityOpen Targets
0.26Weak
spinal cord injuryOpen Targets
0.26Weak
response to antihypertensive drugOpen Targets
0.26Weak
infectious arthritisOpen Targets
0.25Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CNIH4Protein interaction95%DLG4Protein interaction94%SYNDIG1Protein interaction86%GRIN1Protein interaction83%SHISA8Protein interaction83%GRIA1Protein interaction82%
Tissue Expression6 tissues
Brain
100%
Liver
9%
Ovary
5%
Lung
3%
Heart
2%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SHISA9CNIH4DLG4SYNDIG1GRIN1SHISA8GRIA1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt B4DS77
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.57Moderately Constrained
pLIⓘ
0.79Intermediate
Observed/Expected LoF0.36 [0.23–0.57]
RankingsWhere SHISA9 stands among ~20K protein-coding genes
  • #16,565of 20,598
    Most Researched12
  • #3,797of 17,882
    Most Constrained (LOEUF)0.57 · top quartile
Genes detectedSHISA9
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A two-phase epigenome-wide four-way gene-smoking interaction study of overall survival for early-stage non-small cell lung cancer.
PMID: 39630602
Mol Oncol · 2025
1.00
2
C-terminal interactors of the AMPA receptor auxiliary subunit Shisa9.
PMID: 24498314
PLoS One · 2014
0.90
3
AMPA Receptor Auxiliary Proteins of the CKAMP Family.
PMID: 30909450
Int J Mol Sci · 2019
0.80
4
Disturbances of paraventricular thalamic nucleus neurons in bipolar disorder revealed by single-nucleus analysis.
PMID: 41501055
Nat Commun · 2026
0.70
5
Genome-wide association study followed by trans-ancestry meta-analysis identify 17 new risk loci for schizophrenia.
PMID: 34380480
BMC Med · 2021
0.60