EXOC3L4

protein-coding

exocyst complex component 3 like 4

Gene summary

Predicted to enable SNARE binding activity. Predicted to be involved in exocyst localization and exocytosis. Predicted to be part of exocyst. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C14orf73

MANE transcript

NM_001077594.2

Inheritance

—

ClinVar variants

U:147B:16

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.65

Max pathogenic AF

—

Genomic locus

chr14:103,094,725-103,110,559

External References & Databases

Ensembl (ENSG00000205436)

Transcript & Mutation Effects

hg38 • Region Span ~15.8 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 EXOC3L4 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 152

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001077594.2. 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			2 clinvar		1 clinvar	3
missense			142 clinvar	14 clinvar	1 clinvar	157
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	147	14	2	163

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 65 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001077594.2	RefSeq	NP_001071062.1	11	MANE Select
ENST00000688303.1	Ensembl	ENSP00000509130.1	11	MANE Select
NM_001394941.1	RefSeq	NP_001381870.1	11	Standard
NM_001394942.1	RefSeq	NP_001381871.1	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

exocytosis
exocyst localization

Molecular Function

SNARE binding

Cellular Component

exocyst

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000380069
Coding exons: 11
Length: 10416
Individuals with no LoFs: 125652
Homozygous LoFs: 0
Heterozygous LoFs: 92
Defined: 125744
p: 0.000366

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.691	356	395	0.902	0.0000260	4434
Missense (PolyPhen)		88	101.81	0.86436		1337
Synonymous	1.14	161	180	0.892	0.0000124	1508
Loss of Function	1.63	17	26.0	0.654	0.00000131	297

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.00022	0.00020	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00096	0.00092	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00051	0.00047	rare
South Asian	0.00034	0.00033	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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