EML6

protein-coding

EMAP like 6, the group of WD repeat domain containing|EMAP like

Gene summary

Predicted to enable microtubule binding activity. Predicted to be involved in meiotic cell cycle. Predicted to be located in cytoplasm; microtubule; and spindle. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001039753.4

Inheritance

—

ClinVar variants

P:1U:333B:13

Top phenotype

High myopia

gnomAD constraint

pLI —, LoF o/e 0.34

Max pathogenic AF

—

Genomic locus

chr2:54,723,499-54,972,025

External References & Databases

Ensembl (ENSG00000214595)

Transcript & Mutation Effects

hg38 • Region Span ~248.5 kb

Loading mutation effect viewer...

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 EML6 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 327

not providedTotal: 18

High myopiaTotal: 1

KeratoconusTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001039753.4. 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	7 clinvar	4 clinvar	12
missense		1 clinvar	329 clinvar	2 clinvar		332
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	1	333	9	4	347

Highest pathogenic variant AF is 0.00018566247

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 18 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001039753.4	RefSeq	NP_001034842.2	41	MANE Select
ENST00000356458.8	Ensembl	ENSP00000348842.6	41	MANE Select
ENST00000673655.1	Ensembl	ENSP00000501270.1	2	Standard
ENST00000673746.1	Ensembl	ENSP00000501136.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

microtubule binding

Cellular Component

cytoplasm
microtubule
microtubule cytoskeleton

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000356458
Coding exons: 41
Length: 248522
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.12	943	1.04e+3	0.903	0.0000580	12815
Missense (PolyPhen)		212	322.1	0.65818		3714
Synonymous	-2.73	470	401	1.17	0.0000246	3749
Loss of Function	6.11	34	99.8	0.341	0.00000565	1208

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
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	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic. {ECO:0000250}.;

Intolerance Scores

RVIS EVS: -0.61
RVIS percentile EVS: 17.5

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.116

Gene Damage Prediction

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