Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84034
Gene name	Elastin microfibril interfacer 2
Gene symbol	EMILIN2
Synonyms (NCBI Gene)	EMILIN-2FOAP-10
Chromosome	18
Chromosome location	18p11.32-p11.31

168

Show/Hide all (168)

miRTarBase ID	miRNA	Experiments	Reference
MIRT564415	hsa-miR-302f	HITS-CLIP	23706177
MIRT564414	hsa-miR-6888-5p	HITS-CLIP	23706177
MIRT564413	hsa-miR-3929	HITS-CLIP	23706177
MIRT564412	hsa-miR-4419b	HITS-CLIP	23706177
MIRT564411	hsa-miR-4478	HITS-CLIP	23706177
MIRT682000	hsa-miR-6746-5p	HITS-CLIP	23706177
MIRT564408	hsa-miR-7162-3p	HITS-CLIP	23706177
MIRT564409	hsa-miR-219b-3p	HITS-CLIP	23706177
MIRT681999	hsa-miR-485-5p	HITS-CLIP	23706177
MIRT681998	hsa-miR-6884-5p	HITS-CLIP	23706177
MIRT564407	hsa-let-7a-5p	HITS-CLIP	23706177
MIRT564405	hsa-let-7b-5p	HITS-CLIP	23706177
MIRT564404	hsa-let-7c-5p	HITS-CLIP	23706177
MIRT564403	hsa-let-7d-5p	HITS-CLIP	23706177
MIRT564402	hsa-let-7e-5p	HITS-CLIP	23706177
MIRT564401	hsa-let-7f-5p	HITS-CLIP	23706177
MIRT564400	hsa-let-7g-5p	HITS-CLIP	23706177
MIRT564399	hsa-let-7i-5p	HITS-CLIP	23706177
MIRT564398	hsa-miR-4458	HITS-CLIP	23706177
MIRT564396	hsa-miR-4500	HITS-CLIP	23706177
MIRT564397	hsa-miR-98-5p	HITS-CLIP	23706177
MIRT564395	hsa-miR-202-3p	HITS-CLIP	23706177
MIRT564392	hsa-miR-7160-5p	HITS-CLIP	23706177
MIRT681997	hsa-miR-6771-5p	HITS-CLIP	23706177
MIRT564391	hsa-miR-1273e	HITS-CLIP	23706177
MIRT564389	hsa-miR-665	HITS-CLIP	23706177
MIRT564415	hsa-miR-302f	PAR-CLIP	20371350
MIRT564414	hsa-miR-6888-5p	PAR-CLIP	20371350
MIRT564413	hsa-miR-3929	PAR-CLIP	20371350
MIRT564412	hsa-miR-4419b	PAR-CLIP	20371350
MIRT564411	hsa-miR-4478	PAR-CLIP	20371350
MIRT564410	hsa-miR-1247-3p	PAR-CLIP	20371350
MIRT564408	hsa-miR-7162-3p	PAR-CLIP	20371350
MIRT564409	hsa-miR-219b-3p	PAR-CLIP	20371350
MIRT564406	hsa-miR-6087	PAR-CLIP	20371350
MIRT564407	hsa-let-7a-5p	PAR-CLIP	20371350
MIRT564405	hsa-let-7b-5p	PAR-CLIP	20371350
MIRT564404	hsa-let-7c-5p	PAR-CLIP	20371350
MIRT564403	hsa-let-7d-5p	PAR-CLIP	20371350
MIRT564402	hsa-let-7e-5p	PAR-CLIP	20371350
MIRT564401	hsa-let-7f-5p	PAR-CLIP	20371350
MIRT564400	hsa-let-7g-5p	PAR-CLIP	20371350
MIRT564399	hsa-let-7i-5p	PAR-CLIP	20371350
MIRT564398	hsa-miR-4458	PAR-CLIP	20371350
MIRT564396	hsa-miR-4500	PAR-CLIP	20371350
MIRT564397	hsa-miR-98-5p	PAR-CLIP	20371350
MIRT564395	hsa-miR-202-3p	PAR-CLIP	20371350
MIRT564394	hsa-miR-658	PAR-CLIP	20371350
MIRT564392	hsa-miR-7160-5p	PAR-CLIP	20371350
MIRT564393	hsa-miR-25-5p	PAR-CLIP	20371350
MIRT564391	hsa-miR-1273e	PAR-CLIP	20371350
MIRT564390	hsa-miR-4459	PAR-CLIP	20371350
MIRT564389	hsa-miR-665	PAR-CLIP	20371350
MIRT564415	hsa-miR-302f	HITS-CLIP	23706177
MIRT564414	hsa-miR-6888-5p	HITS-CLIP	23706177
MIRT564413	hsa-miR-3929	HITS-CLIP	23706177
MIRT564412	hsa-miR-4419b	HITS-CLIP	23706177
MIRT564411	hsa-miR-4478	HITS-CLIP	23706177
MIRT682000	hsa-miR-6746-5p	HITS-CLIP	23706177
MIRT564408	hsa-miR-7162-3p	HITS-CLIP	23706177
MIRT564409	hsa-miR-219b-3p	HITS-CLIP	23706177
MIRT681999	hsa-miR-485-5p	HITS-CLIP	23706177
MIRT681998	hsa-miR-6884-5p	HITS-CLIP	23706177
MIRT564407	hsa-let-7a-5p	HITS-CLIP	23706177
MIRT564405	hsa-let-7b-5p	HITS-CLIP	23706177
MIRT564404	hsa-let-7c-5p	HITS-CLIP	23706177
MIRT564403	hsa-let-7d-5p	HITS-CLIP	23706177
MIRT564402	hsa-let-7e-5p	HITS-CLIP	23706177
MIRT564401	hsa-let-7f-5p	HITS-CLIP	23706177
MIRT564400	hsa-let-7g-5p	HITS-CLIP	23706177
MIRT564399	hsa-let-7i-5p	HITS-CLIP	23706177
MIRT564398	hsa-miR-4458	HITS-CLIP	23706177
MIRT564396	hsa-miR-4500	HITS-CLIP	23706177
MIRT564397	hsa-miR-98-5p	HITS-CLIP	23706177
MIRT564395	hsa-miR-202-3p	HITS-CLIP	23706177
MIRT564392	hsa-miR-7160-5p	HITS-CLIP	23706177
MIRT681997	hsa-miR-6771-5p	HITS-CLIP	23706177
MIRT564391	hsa-miR-1273e	HITS-CLIP	23706177
MIRT564389	hsa-miR-665	HITS-CLIP	23706177
MIRT564415	hsa-miR-302f	PAR-CLIP	20371350
MIRT564414	hsa-miR-6888-5p	PAR-CLIP	20371350
MIRT564413	hsa-miR-3929	PAR-CLIP	20371350
MIRT564412	hsa-miR-4419b	PAR-CLIP	20371350
MIRT564411	hsa-miR-4478	PAR-CLIP	20371350
MIRT564410	hsa-miR-1247-3p	PAR-CLIP	20371350
MIRT564408	hsa-miR-7162-3p	PAR-CLIP	20371350
MIRT564409	hsa-miR-219b-3p	PAR-CLIP	20371350
MIRT564406	hsa-miR-6087	PAR-CLIP	20371350
MIRT564407	hsa-let-7a-5p	PAR-CLIP	20371350
MIRT564405	hsa-let-7b-5p	PAR-CLIP	20371350
MIRT564404	hsa-let-7c-5p	PAR-CLIP	20371350
MIRT564403	hsa-let-7d-5p	PAR-CLIP	20371350
MIRT564402	hsa-let-7e-5p	PAR-CLIP	20371350
MIRT564401	hsa-let-7f-5p	PAR-CLIP	20371350
MIRT564400	hsa-let-7g-5p	PAR-CLIP	20371350
MIRT564399	hsa-let-7i-5p	PAR-CLIP	20371350
MIRT564398	hsa-miR-4458	PAR-CLIP	20371350
MIRT564396	hsa-miR-4500	PAR-CLIP	20371350
MIRT564397	hsa-miR-98-5p	PAR-CLIP	20371350
MIRT564395	hsa-miR-202-3p	PAR-CLIP	20371350
MIRT564394	hsa-miR-658	PAR-CLIP	20371350
MIRT564392	hsa-miR-7160-5p	PAR-CLIP	20371350
MIRT564393	hsa-miR-25-5p	PAR-CLIP	20371350
MIRT564391	hsa-miR-1273e	PAR-CLIP	20371350
MIRT564390	hsa-miR-4459	PAR-CLIP	20371350
MIRT564389	hsa-miR-665	PAR-CLIP	20371350
MIRT962008	hsa-miR-1207-3p	CLIP-seq
MIRT962009	hsa-miR-1324	CLIP-seq
MIRT962010	hsa-miR-4701-5p	CLIP-seq
MIRT962011	hsa-miR-548u	CLIP-seq
MIRT962012	hsa-miR-588	CLIP-seq
MIRT2436952	hsa-miR-3117-5p	CLIP-seq
MIRT2436953	hsa-miR-339-5p	CLIP-seq
MIRT2436954	hsa-miR-4325	CLIP-seq
MIRT2436955	hsa-miR-4421	CLIP-seq
MIRT2436956	hsa-miR-507	CLIP-seq
MIRT2436957	hsa-miR-511	CLIP-seq
MIRT2436958	hsa-miR-557	CLIP-seq
MIRT962008	hsa-miR-1207-3p	CLIP-seq
MIRT2523509	hsa-miR-128	CLIP-seq
MIRT2523510	hsa-miR-1292	CLIP-seq
MIRT2523511	hsa-miR-132	CLIP-seq
MIRT2523512	hsa-miR-146b-3p	CLIP-seq
MIRT2523513	hsa-miR-212	CLIP-seq
MIRT2436952	hsa-miR-3117-5p	CLIP-seq
MIRT2523514	hsa-miR-3122	CLIP-seq
MIRT2523515	hsa-miR-3173-3p	CLIP-seq
MIRT2523516	hsa-miR-3173-5p	CLIP-seq
MIRT2523517	hsa-miR-324-5p	CLIP-seq
MIRT2436953	hsa-miR-339-5p	CLIP-seq
MIRT2523518	hsa-miR-3912	CLIP-seq
MIRT2523519	hsa-miR-3913-5p	CLIP-seq
MIRT2436954	hsa-miR-4325	CLIP-seq
MIRT2436955	hsa-miR-4421	CLIP-seq
MIRT2523520	hsa-miR-4428	CLIP-seq
MIRT2523521	hsa-miR-4471	CLIP-seq
MIRT2523522	hsa-miR-4477b	CLIP-seq
MIRT962010	hsa-miR-4701-5p	CLIP-seq
MIRT2436956	hsa-miR-507	CLIP-seq
MIRT2436957	hsa-miR-511	CLIP-seq
MIRT2523523	hsa-miR-512-3p	CLIP-seq
MIRT2436958	hsa-miR-557	CLIP-seq
MIRT962012	hsa-miR-588	CLIP-seq
MIRT2523524	hsa-miR-874	CLIP-seq
MIRT962008	hsa-miR-1207-3p	CLIP-seq
MIRT2523509	hsa-miR-128	CLIP-seq
MIRT2523510	hsa-miR-1292	CLIP-seq
MIRT2523511	hsa-miR-132	CLIP-seq
MIRT2523512	hsa-miR-146b-3p	CLIP-seq
MIRT2523513	hsa-miR-212	CLIP-seq
MIRT2523514	hsa-miR-3122	CLIP-seq
MIRT2523515	hsa-miR-3173-3p	CLIP-seq
MIRT2523516	hsa-miR-3173-5p	CLIP-seq
MIRT2436953	hsa-miR-339-5p	CLIP-seq
MIRT2523518	hsa-miR-3912	CLIP-seq
MIRT2523519	hsa-miR-3913-5p	CLIP-seq
MIRT2436954	hsa-miR-4325	CLIP-seq
MIRT2436955	hsa-miR-4421	CLIP-seq
MIRT2523520	hsa-miR-4428	CLIP-seq
MIRT2523521	hsa-miR-4471	CLIP-seq
MIRT2523522	hsa-miR-4477b	CLIP-seq
MIRT962010	hsa-miR-4701-5p	CLIP-seq
MIRT2436956	hsa-miR-507	CLIP-seq
MIRT2436957	hsa-miR-511	CLIP-seq
MIRT2523523	hsa-miR-512-3p	CLIP-seq
MIRT2436958	hsa-miR-557	CLIP-seq
MIRT962012	hsa-miR-588	CLIP-seq
MIRT2523524	hsa-miR-874	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	11278945
GO:0005576	Component	Extracellular region	IDA	11278945
GO:0005576	Component	Extracellular region	IEA
GO:0005581	Component	Collagen trimer	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0008217	Process	Regulation of blood pressure	ISS
GO:0030023	Function	Extracellular matrix constituent conferring elasticity	NAS	11278945
GO:0030023	Function	Extracellular matrix constituent conferring elasticity	RCA	25037231, 28327460, 28675934
GO:0030194	Process	Positive regulation of blood coagulation	IEA
GO:0030194	Process	Positive regulation of blood coagulation	ISO
GO:0030336	Process	Negative regulation of cell migration	IDA	24374807
GO:0031012	Component	Extracellular matrix	HDA	23658023, 25037231, 28327460, 28675934
GO:0033627	Process	Cell adhesion mediated by integrin	ISS
GO:0042127	Process	Regulation of cell population proliferation	ISS
GO:0043065	Process	Positive regulation of apoptotic process	IDA	24374807
GO:0045766	Process	Positive regulation of angiogenesis	IDA	20360940
GO:0051240	Process	Positive regulation of multicellular organismal process	IEA
GO:1900426	Process	Positive regulation of defense response to bacterium	IDA	17988845
GO:1901731	Process	Positive regulation of platelet aggregation	IDA	25658937
GO:1990971	Component	EMILIN complex	ISS

MIM	HGNC	e!Ensembl
608928	19881	ENSG00000132205

Q9BXX0

Protein name

EMILIN-2 (Elastin microfibril interface-located protein 2) (Elastin microfibril interfacer 2) (Protein FOAP-10)

Protein 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.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07546	EMI	45 → 115	EMI domain	Domain
PF00386	C1q	907 → 1046	C1q domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highest levels are present in fetal heart and adult lung. Intermediate levels in peripheral leukocytes, placenta, and spinal cord and low expression in fetal brain, spleen, thymus, and lung and in adult heart, aorta, testis, bone marro

Sequence

MWQPRRPWPRVPWRWALALLALVGAGLCHAGPQPGYPARPSARNKNWCAYIVNKNVSCSV
LEGSESFIQAQYNCAWNQMPCPSALVYRVNFRPRYVTRYKTVTQLEWRCCPGFRGGDCQE
GPKDPVKTLRPTPARPRNSLKKATDNEPSQFSEPRKTLSPTGTAQPSWGVDPKEGPQELQ
EKKIQVLEEKVLRLTRTVLDLQSSLAGVSENLKHATQDDASRTRAPGLSSQHPKPDTTVS
GDTETGQSPGVFNTKESGMKDIKSELAEVKDTLKNKSDKLEELDGKVKGYEGQLRQLQEA
AQGPTVTMTTNELYQAYVDSKIDALREELMEGMDRKLADLKNSCEYKLTGLQQQCDDYGS
SYLGVIELIGEKETSLRKEINNLRARLQEPSAQANCCDSEKNGDIGQQIKTLDQKIERVA
EATRMLNGRLDNEFDRLIVPEPDVDFDAKWNELDARINVTEKNAEEHCFYIEETLRGAIN
GEVGDLKQLVDQKIQSLEDRLGSVLLQMTNNTGAELSPPGAAALPGVSGSGDERVMMELN
HLKDKVQVVEDICLLNIQGKPHGMEGALPNREDRAVRDSLHLLKSLNDTMHRKFQETEQT
IQKLQQDFSFLYSQLNHTENDVTHLQKEMSNCRAGENAGMGRFTKVGEQERTVDTLPSPQ
HPVAHCCSQLEERWQRLQSQVISELDACKECTQGVQREVSMVEGRVSHMEKTCSKLDSIS
GNLQRIKEGLNKHVSSLWNCVRQMNGTLRSHSRDISGLKNSVQQFYSHVFQISTDLQDLV
KFQPSAKAPSPPPPAEAPKEPLQPEPAPPRPSGPATAEDPGRRPVLPQRPPEERPPQPPG
STGVIAETGQAGPPAGAGVSGRGLPRGVDGQTGSGTVPGAEGFAGAPGYPKSPPVASPGA
PVPSLVSFSAGLTQKPFPSDGGVVLFNKVLVNDGDVYNPSTGVFTAPYDGRYLITATLTP
ERDAYVEAVLSVSNASVAQLHTAGYRREFLEYHRPPGALHTCGGPGAFHLIVHLKAGDAV
NVVVTGGKLAHTDFDEMYSTFSGVFLYPFLSHL

Sequence length

1053

Interactions

View interactions

	Reactome
			Molecules associated with elastic fibres

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BULLOUS PEMPHIGOID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (14)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	24398667		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20205715, 24374807		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20205715	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	26631031	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	25658937		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	17698584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20205715, 24374807		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	20205715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	37775701	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	33082496	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24374807, 24398667, 26631031, 29483644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Porokeratosis	Porokeratosis	Pubtator	23593459	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Porokeratosis of Mibelli	Porokeratosis	BEFREE	23593459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30544909	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only

EMILIN2 (elastin microfibril interfacer 2)