FER1L5

Chr 2

fer-1 like family member 5

NCBI Gene: 90342 ENSG00000249715 UniProt: A0AVI2 OMIM: 620883

The FER1L5 protein binds calcium ions and regulates neurotransmitter secretion at synaptic vesicle membranes, while also playing crucial roles in male fertility through the acrosome reaction and in skeletal muscle development through myoblast fusion and membrane repair. Mutations in FER1L5 cause autosomal recessive limb-girdle muscular dystrophy type 2X, which involves progressive weakness of the shoulder and hip girdle muscles. This condition follows an autosomal recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable calcium ion binding activity. Predicted to be involved in regulation of neurotransmitter secretion. Predicted to be located in plasma membrane. Predicted to be active in synaptic vesicle membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Clinical Summary— FER1L5

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ClinVar Variants

263 VUS of 304 total submissions

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

304 submitted variants in ClinVar

ClinVar

Classification Summary

VUS263

Likely Benign27

Benign2

263

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	196	67	0	263
Likely Benign	20	7	0	27
Benign	1	0	1	2
Total	217	74	1	292

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

32 pathogenic / likely-pathogenic (of 65) ClinVar copy-number / structural variants overlap FER1L5 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →