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 several processes, including binding activity of sperm to zona pellucida; membrane fusion involved in acrosome reaction; and plasma membrane repair. Predicted to be located in cytoplasmic vesicle membrane and plasma membrane. Predicted to be active in synaptic vesicle membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in FER1L5?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 28

2,296 rare PASS variants

Rare truncating (LoF)

1 in 360

413 rare PASS variants

Rare synonymous (reference)

1 in 43

1,017 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for FER1L5. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 33	1 in 420
South Asian	~43k	1 in 23	1 in 400
Remaining (unassigned)	~30k	1 in 26	1 in 470
European (Finnish)	~27k	1 in 93	1 in 940
Admixed American	~22k	1 in 24	1 in 370
African / African American	~21k	1 in 27	1 in 300
East Asian	~20k	1 in 28	1 in 210
Ashkenazi Jewish	~13k	1 in 69	1 in 1,100
Middle Eastern	~2,884	1 in 38	1 in 220

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 52 of 53 coding exons well covered in gnomAD exomes; exon 9 poorly covered. Genomes: all 53.? see exons ↓