RIMS4

protein-coding

regulating synaptic membrane exocytosis 4, the group of Regulating synaptic membrane exocytosis family

Gene summary

Predicted to enable transmembrane transporter binding activity. Predicted to be involved in regulation of membrane potential; regulation of synapse organization; and regulation of synaptic vesicle exocytosis. Predicted to be located in synaptic membrane. Predicted to be active in glutamatergic synapse. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C20orf190

MANE transcript

NM_182970.4

Inheritance

—

ClinVar variants

U:18B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.26

Max pathogenic AF

—

Genomic locus

chr20:44,751,808-44,810,546

External References & Databases

Ensembl (ENSG00000101098)

Transcript & Mutation Effects

hg38 • Region Span ~58.7 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 RIMS4 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 18

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_182970.4. 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					1 clinvar	1
missense			18 clinvar			18
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	18	0	1	19

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 5 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_182970.4	RefSeq	NP_892015.1	6	MANE Select
ENST00000372851.8	Ensembl	ENSP00000361942.4	6	MANE Select
NM_001205317.2	RefSeq	NP_001192246.1	6	Standard
ENST00000541604.2	Ensembl	ENSP00000439287.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of membrane potential
regulation of synaptic plasticity
calcium ion-regulated exocytosis of neurotransmitter
positive regulation of synaptic transmission
regulation of synaptic vesicle exocytosis

Molecular Function

Rab GTPase binding
ion channel binding

Cellular Component

cell junction
presynaptic membrane
synapse
presynaptic active zone
cytoskeleton of presynaptic active zone

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000541604
Coding exons: 6
Length: 58531
Individuals with no LoFs: 125630
Homozygous LoFs: 0
Heterozygous LoFs: 2
Defined: 125632
p: 0.00000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.89	63	168	0.374	0.0000103	1726
Missense (PolyPhen)		29	92.738	0.31271		901
Synonymous	1.05	63	74.5	0.846	0.00000482	559
Loss of Function	2.34	3	11.6	0.258	4.93e-7	137

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
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)	0.0000090	0.0000088	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Regulates synaptic membrane exocytosis. {ECO:0000250}.;

Recessive Scores

pRec: 0.117

Intolerance Scores

LoFtool: 0.105
RVIS EVS: -0.34
RVIS percentile EVS: 30.07

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.323

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Low	Low
Primary Immunodeficiency	Medium	Low	Medium
Cancer	Medium	Medium	Medium