SHISA8

protein-coding

shisa family member 8, the group of Shisa family members

Gene summary

Predicted to be involved in regulation of short-term neuronal synaptic plasticity. Predicted to be located in membrane. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in dendritic spine membrane; postsynaptic density; and postsynaptic membrane. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C22orf17

MANE transcript

NM_001207020.3

Inheritance

—

ClinVar variants

U:89B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chr22:41,909,543-41,915,074

External References & Databases

Ensembl (ENSG00000234965)

Transcript & Mutation Effects

hg38 • Region Span ~5.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SHISA8 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 89

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001207020.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			88 clinvar	2 clinvar		90
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	89	2	0	91

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001207020.3	RefSeq	NP_001193949.1	4	MANE Select
ENST00000621082.2	Ensembl	ENSP00000481203.1	4	MANE Select
NM_001353438.2	RefSeq	NP_001340367.1	4	Standard
NM_001353439.2	RefSeq	NP_001340368.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of short-term neuronal synaptic plasticity
regulation of AMPA receptor activity

Cellular Component

postsynaptic density
AMPA glutamate receptor complex
dendritic spine membrane
synapse
postsynaptic membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000457093
Coding exons: 2
Length: 3274
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.562	10	16.4	0.610	8.30e-7	998
Missense (PolyPhen)		4	4.5823	0.87293		245
Synonymous	0.982	4	7.40	0.541	3.96e-7	367
Loss of Function	0.863	0	0.867	0.00	3.77e-8	48

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May regulate trafficking and current kinetics of AMPA- type glutamate receptor (AMPAR) at synapses. {ECO:0000250|UniProtKB:J3QNX5}.;

Essentials

Indispensability pred.: N
Indispensability score: 0.114