EML2

protein-coding

EMAP like 2, the group of WD repeat domain containing|MicroRNA protein coding host genes|EMAP like

Gene summary

Enables microtubule binding activity. Involved in negative regulation of microtubule polymerization and regulation of microtubule nucleation. Located in mitotic spindle. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_012155.4

Inheritance

—

ClinVar variants

U:125B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.77

Max pathogenic AF

—

Genomic locus

chr19:45,606,994-45,645,602

External References & Databases

Ensembl (ENSG00000125746)

Transcript & Mutation Effects

hg38 • Region Span ~38.6 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 EML2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 116

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_012155.4. 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			2 clinvar	2 clinvar		4
missense			116 clinvar	1 clinvar		117
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	125	3	0	128

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 37 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_012155.4	RefSeq	NP_036287.1	19	MANE Select
ENST00000245925.8	Ensembl	ENSP00000245925.3	19	MANE Select
NM_001193268.3	RefSeq	NP_001180197.1	22	Standard
NM_001193269.2	RefSeq	NP_001180198.1	22	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

visual perception
sensory perception of sound
regulation of microtubule nucleation
negative regulation of microtubule polymerization

Molecular Function

signaling receptor binding
protein binding
microtubule binding
protein C-terminus binding
tubulin binding

Cellular Component

cytoplasm
microtubule
microtubule associated complex
microtubule cytoskeleton
mitotic spindle

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000587152
Coding exons: 22
Length: 38636
Individuals with no LoFs: 125669
Homozygous LoFs: 0
Heterozygous LoFs: 79
Defined: 125748
p: 0.000314

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.131	495	503	0.984	0.0000294	5414
Missense (PolyPhen)		155	155.58	0.99627		1667
Synonymous	-0.202	225	221	1.02	0.0000140	1800
Loss of Function	1.41	34	44.1	0.771	0.00000218	500

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000064	0.000062	rare
Latino/Admixed American	0.00020	0.00020	rare
Ashkenazi Jewish	0.0017	0.0017	notable
East Asian	0.00044	0.00044	rare
Finnish	0.00032	0.00032	rare
European (Non-Finnish)	0.00020	0.00019	rare
South Asian	0.00052	0.00052	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Tubulin binding protein that inhibits microtubule nucleation and growth, resulting in shorter microtubules. {ECO:0000269|PubMed:11694528}.;

Recessive Scores

pRec: 0.114

Intolerance Scores

LoFtool: 0.881
RVIS EVS: 0.22
RVIS percentile EVS: 68.49

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.924

Gene Damage Prediction

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