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	90187
Gene name	Elastin microfibril interfacer 3
Gene symbol	EMILIN3
Synonyms (NCBI Gene)	C20orf130EMILIN5dJ620E11.4
Chromosome	20
Chromosome location	20q12

148

Show/Hide all (148)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018837	hsa-miR-335-5p	Microarray	18185580
MIRT021784	hsa-miR-132-3p	Microarray	17612493
MIRT039134	hsa-miR-769-3p	CLASH	23622248
MIRT037033	hsa-miR-877-3p	CLASH	23622248
MIRT962013	hsa-miR-103a	CLIP-seq
MIRT962014	hsa-miR-107	CLIP-seq
MIRT962015	hsa-miR-1184	CLIP-seq
MIRT962016	hsa-miR-1205	CLIP-seq
MIRT962017	hsa-miR-1275	CLIP-seq
MIRT962018	hsa-miR-128	CLIP-seq
MIRT962019	hsa-miR-145	CLIP-seq
MIRT962020	hsa-miR-15a	CLIP-seq
MIRT962021	hsa-miR-15b	CLIP-seq
MIRT962022	hsa-miR-16	CLIP-seq
MIRT962023	hsa-miR-195	CLIP-seq
MIRT962024	hsa-miR-198	CLIP-seq
MIRT962025	hsa-miR-214	CLIP-seq
MIRT962026	hsa-miR-2278	CLIP-seq
MIRT962027	hsa-miR-2467-5p	CLIP-seq
MIRT962028	hsa-miR-3151	CLIP-seq
MIRT962029	hsa-miR-3158-5p	CLIP-seq
MIRT962030	hsa-miR-3188	CLIP-seq
MIRT962031	hsa-miR-3192	CLIP-seq
MIRT962032	hsa-miR-3619-5p	CLIP-seq
MIRT962033	hsa-miR-3649	CLIP-seq
MIRT962034	hsa-miR-3975	CLIP-seq
MIRT962035	hsa-miR-424	CLIP-seq
MIRT962036	hsa-miR-4291	CLIP-seq
MIRT962037	hsa-miR-4300	CLIP-seq
MIRT962038	hsa-miR-4447	CLIP-seq
MIRT962039	hsa-miR-4472	CLIP-seq
MIRT962040	hsa-miR-4505	CLIP-seq
MIRT962041	hsa-miR-4525	CLIP-seq
MIRT962042	hsa-miR-4649-3p	CLIP-seq
MIRT962043	hsa-miR-4665-5p	CLIP-seq
MIRT962044	hsa-miR-4709-3p	CLIP-seq
MIRT962045	hsa-miR-4723-5p	CLIP-seq
MIRT962046	hsa-miR-4738-3p	CLIP-seq
MIRT962047	hsa-miR-485-5p	CLIP-seq
MIRT962048	hsa-miR-491-5p	CLIP-seq
MIRT962049	hsa-miR-492	CLIP-seq
MIRT962050	hsa-miR-497	CLIP-seq
MIRT962051	hsa-miR-544	CLIP-seq
MIRT962052	hsa-miR-625	CLIP-seq
MIRT962053	hsa-miR-761	CLIP-seq
MIRT962054	hsa-miR-920	CLIP-seq
MIRT962055	hsa-miR-922	CLIP-seq
MIRT1985058	hsa-miR-1972	CLIP-seq
MIRT1985059	hsa-miR-4717-5p	CLIP-seq
MIRT1985060	hsa-miR-4754	CLIP-seq
MIRT1985058	hsa-miR-1972	CLIP-seq
MIRT962027	hsa-miR-2467-5p	CLIP-seq
MIRT962030	hsa-miR-3188	CLIP-seq
MIRT962034	hsa-miR-3975	CLIP-seq
MIRT962042	hsa-miR-4649-3p	CLIP-seq
MIRT1985059	hsa-miR-4717-5p	CLIP-seq
MIRT1985060	hsa-miR-4754	CLIP-seq
MIRT962047	hsa-miR-485-5p	CLIP-seq
MIRT1985058	hsa-miR-1972	CLIP-seq
MIRT962038	hsa-miR-4447	CLIP-seq
MIRT962039	hsa-miR-4472	CLIP-seq
MIRT1985059	hsa-miR-4717-5p	CLIP-seq
MIRT1985060	hsa-miR-4754	CLIP-seq
MIRT2523525	hsa-miR-1245b-5p	CLIP-seq
MIRT2523526	hsa-miR-1292	CLIP-seq
MIRT2523527	hsa-miR-1297	CLIP-seq
MIRT2523528	hsa-miR-1305	CLIP-seq
MIRT2523529	hsa-miR-153	CLIP-seq
MIRT962020	hsa-miR-15a	CLIP-seq
MIRT962021	hsa-miR-15b	CLIP-seq
MIRT962022	hsa-miR-16	CLIP-seq
MIRT962023	hsa-miR-195	CLIP-seq
MIRT962025	hsa-miR-214	CLIP-seq
MIRT2523530	hsa-miR-217	CLIP-seq
MIRT962026	hsa-miR-2278	CLIP-seq
MIRT962027	hsa-miR-2467-5p	CLIP-seq
MIRT2523531	hsa-miR-26a	CLIP-seq
MIRT2523532	hsa-miR-26b	CLIP-seq
MIRT2523533	hsa-miR-3142	CLIP-seq
MIRT2523534	hsa-miR-3144-5p	CLIP-seq
MIRT962028	hsa-miR-3151	CLIP-seq
MIRT962030	hsa-miR-3188	CLIP-seq
MIRT2523535	hsa-miR-3191	CLIP-seq
MIRT962031	hsa-miR-3192	CLIP-seq
MIRT2523536	hsa-miR-326	CLIP-seq
MIRT2523537	hsa-miR-330-5p	CLIP-seq
MIRT2523538	hsa-miR-335	CLIP-seq
MIRT962032	hsa-miR-3619-5p	CLIP-seq
MIRT962033	hsa-miR-3649	CLIP-seq
MIRT2523539	hsa-miR-382	CLIP-seq
MIRT2523540	hsa-miR-3915	CLIP-seq
MIRT2523541	hsa-miR-3928	CLIP-seq
MIRT962034	hsa-miR-3975	CLIP-seq
MIRT962035	hsa-miR-424	CLIP-seq
MIRT962036	hsa-miR-4291	CLIP-seq
MIRT962037	hsa-miR-4300	CLIP-seq
MIRT2523542	hsa-miR-4314	CLIP-seq
MIRT962038	hsa-miR-4447	CLIP-seq
MIRT2523543	hsa-miR-4465	CLIP-seq
MIRT2523544	hsa-miR-4471	CLIP-seq
MIRT962039	hsa-miR-4472	CLIP-seq
MIRT962040	hsa-miR-4505	CLIP-seq
MIRT2523545	hsa-miR-4540	CLIP-seq
MIRT2523546	hsa-miR-4646-5p	CLIP-seq
MIRT2523547	hsa-miR-4652-5p	CLIP-seq
MIRT962044	hsa-miR-4709-3p	CLIP-seq
MIRT962047	hsa-miR-485-5p	CLIP-seq
MIRT962048	hsa-miR-491-5p	CLIP-seq
MIRT962049	hsa-miR-492	CLIP-seq
MIRT962050	hsa-miR-497	CLIP-seq
MIRT2523548	hsa-miR-498	CLIP-seq
MIRT2523549	hsa-miR-544b	CLIP-seq
MIRT2523550	hsa-miR-554	CLIP-seq
MIRT2523551	hsa-miR-586	CLIP-seq
MIRT2523552	hsa-miR-593	CLIP-seq
MIRT2523553	hsa-miR-604	CLIP-seq
MIRT2523554	hsa-miR-647	CLIP-seq
MIRT962053	hsa-miR-761	CLIP-seq
MIRT962054	hsa-miR-920	CLIP-seq
MIRT962055	hsa-miR-922	CLIP-seq
MIRT2523525	hsa-miR-1245b-5p	CLIP-seq
MIRT2523526	hsa-miR-1292	CLIP-seq
MIRT2523529	hsa-miR-153	CLIP-seq
MIRT962025	hsa-miR-214	CLIP-seq
MIRT2523530	hsa-miR-217	CLIP-seq
MIRT962027	hsa-miR-2467-5p	CLIP-seq
MIRT2523533	hsa-miR-3142	CLIP-seq
MIRT962030	hsa-miR-3188	CLIP-seq
MIRT962031	hsa-miR-3192	CLIP-seq
MIRT2523536	hsa-miR-326	CLIP-seq
MIRT2523537	hsa-miR-330-5p	CLIP-seq
MIRT2523538	hsa-miR-335	CLIP-seq
MIRT962032	hsa-miR-3619-5p	CLIP-seq
MIRT2523540	hsa-miR-3915	CLIP-seq
MIRT2523541	hsa-miR-3928	CLIP-seq
MIRT962034	hsa-miR-3975	CLIP-seq
MIRT962036	hsa-miR-4291	CLIP-seq
MIRT962037	hsa-miR-4300	CLIP-seq
MIRT2523542	hsa-miR-4314	CLIP-seq
MIRT2523544	hsa-miR-4471	CLIP-seq
MIRT962040	hsa-miR-4505	CLIP-seq
MIRT2523546	hsa-miR-4646-5p	CLIP-seq
MIRT962047	hsa-miR-485-5p	CLIP-seq
MIRT2523549	hsa-miR-544b	CLIP-seq
MIRT2523552	hsa-miR-593	CLIP-seq
MIRT962053	hsa-miR-761	CLIP-seq
MIRT962054	hsa-miR-920	CLIP-seq
MIRT962055	hsa-miR-922	CLIP-seq

Show/Hide all (8)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0030023	Function	Extracellular matrix constituent conferring elasticity	ISS
GO:0030023	Function	Extracellular matrix constituent conferring elasticity	RCA	25037231
GO:0031012	Component	Extracellular matrix	HDA	25037231
GO:0031012	Component	Extracellular matrix	ISS	22261194
GO:0042802	Function	Identical protein binding	IPI	32296183

MIM	HGNC	e!Ensembl
608929	16123	ENSG00000183798

Q9NT22

Protein name

EMILIN-3 (EMILIN-5) (Elastin microfibril interface-located protein 3) (Elastin microfibril interfacer 3) (Elastin microfibril interface-located protein 5) (Elastin microfibril interfacer 5)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07546	EMI	56 → 126	EMI domain	Domain

Sequence

MGRRRLLVWLCAVAALLSGAQARGTPLLARPAPPGASRYSLYTTGWRPRLRPGPHKALCA
YVVHRNVTCILQEGAESYVKAEYRQCRWGPKCPGTVTYRTVLRPKYKVGYKTVTDLAWRC
CPGFTGKRCPEHLTDHGAASPQLEPEPQIPSGQLDPGPRPPSYSRAAPSPHGRKGPGLFG
ERLERLEGDVQRLAQTYGTLSGLVASHEDPNRMTGGPRAPAVPVGFGVIPEGLVGPGDRA
RGPLTPPLDEILSKVTEVSNTLQTKVQLLDKVHGLALGHEAHLQRLREAPPSPLTSLALL
EEYVDRRLHRLWGSLLDGFEQKLQGVQSECDLRVQEVRRQCEEGQAASRRLHQSLDGREL
ALRQELSQLGSQLQGLSVSGRGSCCGQLALINARMDGLERALQAVTETQRGPGAPAGDEL
TRLSAAMLEGGVDGLLEGLETLNGTEGGARGCCLRLDMGGWGVGGFGTMLEERVQSLEER
LATLAGELSHDSASPGRSARPLVQTELAVLEQRLVSLETSCTPSTTSAILDSLVAEVKAW
QSRSEALLRQVASHAALLQQLNGTVAEVQGQLAEGTGSSLQGEITLLKVNLNSVSKSLTG
LSDSVSQYSDAFLAANTSLDERERKVEAEVQAIQEQVSSQGSRLQAGHRQVLNLRGELEQ
LKAGVAKVASGLSRCQDTAQKLQHTVGHFDQRVAQVEGACRRLGLLAAGLDSLPTEPLRP
REGLWSHVDQLNRTLAQHTQDIARLRDDLLDCQAQLAEQVRPGQAN

Sequence length

766

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 (4)

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.
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfanoid habitus and intellectual disability	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (3)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	18158787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	29794476, 36377597	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29794476		★★★★★ ★☆☆☆☆ Found in Text Mining only

EMILIN3 (elastin microfibril interfacer 3)