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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SHISA8
shisa family member 8
Chromosome 22 Β· 22q13.2
NCBI Gene: 440829Ensembl: ENSG00000234965.3HGNC: HGNC:18351UniProt: B8ZZ34
6PubMed Papers
18Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
postsynaptic membranepostsynaptic densitydendritic spine membraneregulation of short-term neuronal synaptic plasticitynon-small cell lung carcinomacardiac arrhythmianeoplasmSleep Disorder
✦AI Summary

SHISA8 (Cystine-knot AMPA receptor-modulating protein 39/CKAMP39) is an auxiliary protein that regulates AMPA-type glutamate receptor (AMPAR) trafficking and current kinetics at synapses 1. As a member of the CKAMP family of proteins, SHISA8 influences the subcellular localization and functional properties of AMPA receptors by modulating their trafficking dynamics 1. This regulatory role positions SHISA8 as an important modulator of synaptic plasticity and glutamatergic neurotransmission. Beyond synaptic function, SHISA8 has emerged as a potential regulator of circadian rhythm and sleep homeostasis. In a multi-omics study of Antarctic expeditioners exposed to abnormal light environments, SHISA8 was identified as a novel candidate gene and key regulatory hub associated with sleep-wake disturbances during polar nights 2. Additionally, SHISA8 was identified as an age-specific marker of nephron progenitor cells during late-gestation human kidney development in comparative studies 3. These findings suggest SHISA8 has pleiotropic functions extending beyond synaptic regulation to include potential roles in circadian biology and developmental processes, with therapeutic potential for intervention in sleep disorders under abnormal light exposure.

Sources cited
1
SHISA8 is the CKAMP39 family member that influences AMPA receptor trafficking, subcellular localization, and function
PMID: 30909450
2
SHISA8 identified as a novel candidate gene and key regulatory hub for sleep-wake activity and circadian rhythm regulation under abnormal light exposure
PMID: 39587296
3
SHISA8 identified as an age-specific marker of nephron progenitor cells during late-gestation human kidney development
PMID: 33789950
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜18
non-small cell lung carcinomaOpen Targets
0.02Suggestive
cardiac arrhythmiaOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
Sleep DisorderOpen Targets
0.01Suggestive
Primary Effusion LymphomaOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
astrocytomaOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
Crohn's diseaseOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
adrenal cortex carcinomaOpen Targets
0.00Suggestive
Miyoshi myopathyOpen Targets
0.00Suggestive
multiple myelomaOpen Targets
0.00Suggestive
multiple sclerosisOpen Targets
0.00Suggestive
myeloid sarcomaOpen Targets
0.00Suggestive
insomniaOpen Targets
0.00Suggestive
Kaposi's sarcomaOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
SHISA9Protein interaction83%SHISA6Shared pathway20%PPFIA3Shared pathway20%SYNGR1Shared pathway20%SYAP1Shared pathway13%SYPShared pathway13%
Tissue Expression6 tissues
Brain
100%
Lung
3%
Liver
3%
Ovary
2%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
SHISA8SHISA9SHISA6PPFIA3SYNGR1SYAP1SYP
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt B8ZZ34
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.96LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.76 [1.20–1.96]
RankingsWhere SHISA8 stands among ~20K protein-coding genes
  • #18,204of 20,598
    Most Researched6
  • #17,755of 17,882
    Most Constrained (LOEUF)1.96
Genes detectedSHISA8
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
AMPA Receptor Auxiliary Proteins of the CKAMP Family.
PMID: 30909450
Int J Mol Sci Β· 2019
1.00
2
An integrated multi-omics analysis identifies novel regulators of circadian rhythm and sleep disruptions under unique light environment in Antarctica.
PMID: 39587296
Mol Psychiatry Β· 2025
0.67
3
The Rhesus Macaque Serves As a Model for Human Lateral Branch Nephrogenesis.
PMID: 33789950
J Am Soc Nephrol Β· 2021
0.33