EML3

Chr 11

EMAP like 3

Also known as: ELP95, EMAP3, EMAP95

NCBI Gene: 256364 ENSG00000149499 UniProt: Q32P44

The EML3 protein regulates mitotic spindle assembly and chromosome alignment during cell division by promoting microtubule nucleation and ensuring proper microtubule-kinetochore attachments. Mutations cause autosomal recessive ribosomopathy with progressive pancytopenia, characterized by bone marrow failure and hematologic abnormalities. This gene shows moderate constraint against loss-of-function variants, suggesting some tolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

Predicted to enable microtubule binding activity. Involved in mitotic metaphase chromosome alignment and regulation of mitotic spindle assembly. Located in several cellular components, including midbody; mitotic spindle microtubule; and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.56

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.56LOEUF

pLI 0.000

Z-score 3.97

OE 0.38 (0.26–0.56)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

2.30Z-score

OE missense 0.72 (0.67–0.79)

398 obs / 550.1 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.38 (0.26–0.56)

0≤0.351.4

Missense OE?0.72 (0.67–0.79)

0≤0.61.4

Synonymous OE?0.88

0≤1.21.6

LoF obs/exp: 18 / 47.5Missense obs/exp: 398 / 550.1Syn Z: 1.46

Background carrier burden — how many people carry a rare variant somewhere in EML3?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 57

1,263 rare PASS variants

Rare truncating (LoF)

1 in 830

172 rare PASS variants

Rare synonymous (reference)

1 in 150

544 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for EML3. 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 61	1 in 1,000
South Asian	~43k	1 in 59	1 in 950
Remaining (unassigned)	~30k	1 in 50	1 in 900
European (Finnish)	~27k	1 in 120	1 in 370
Admixed American	~22k	1 in 69	1 in 840
African / African American	~21k	1 in 57	1 in 380
East Asian	~20k	1 in 62	1 in 1,200
Ashkenazi Jewish	~13k	1 in 370	1 in 2,500
Middle Eastern	~2,884	1 in 52	≈ 1 in 2,800

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 21 of 22 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 22.? see exons ↓