EMILIN2

protein-coding

elastin microfibril interfacer 2, the group of EMI domain containing|C1q domain containing

Gene summary

Predicted to enable extracellular matrix constituent conferring elasticity. Involved in several processes, including positive regulation of angiogenesis; positive regulation of defense response to bacterium; and positive regulation of platelet aggregation. Located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_032048.3

Inheritance

—

ClinVar variants

U:207B:44

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.76

Max pathogenic AF

—

Genomic locus

chr18:2,847,006-2,916,003

External References & Databases

Ensembl (ENSG00000132205)

Transcript & Mutation Effects

hg38 • Region Span ~69.0 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 EMILIN2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 212

not providedTotal: 30

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032048.3. 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	15 clinvar	8 clinvar	24
missense			203 clinvar	15 clinvar	5 clinvar	223
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar		1 clinvar	3
Total	0	0	207	30	14	251

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032048.3	RefSeq	NP_114437.2	8	MANE Select
ENST00000254528.4	Ensembl	ENSP00000254528.3	8	MANE Select
ENST00000894505.1	Ensembl	ENSP00000564564.1	6	Standard
ENST00000894505.2	Ensembl	ENSP00000564564.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

cell adhesion
biological_process
positive regulation of cell-substrate adhesion

Molecular Function

protein binding
extracellular matrix constituent conferring elasticity

Cellular Component

extracellular region
collagen trimer
extracellular matrix
collagen-containing extracellular matrix

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000254528
Coding exons: 8
Length: 68964
Individuals with no LoFs: 125596
Homozygous LoFs: 0
Heterozygous LoFs: 152
Defined: 125748
p: 0.000605

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.271	518	536	0.967	0.0000300	6832
Missense (PolyPhen)		203	213.37	0.95138		2689
Synonymous	-0.215	226	222	1.02	0.0000141	2117
Loss of Function	1.32	26	34.3	0.757	0.00000173	445

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00031	0.00031	rare
Latino/Admixed American	0.00049	0.00049	rare
Ashkenazi Jewish	0.0032	0.0032	notable
East Asian	0.00092	0.00092	rare
Finnish	0.0010	0.00097	notable
European (Non-Finnish)	0.00037	0.00037	rare
South Asian	0.00023	0.00023	rare
Other	0.0018	0.0018	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be responsible for anchoring smooth muscle cells to elastic fibers, and may be involved not only in the formation of the elastic fiber, but also in the processes that regulate vessel assembly. Has cell adhesive capacity.;

Recessive Scores

pRec: 0.101

Intolerance Scores

LoFtool: 0.901
RVIS EVS: -0.5
RVIS percentile EVS: 21.86

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.603

Gene Damage Prediction

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