EMILIN3 elastin microfibril interfacer 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EMILIN3provided by HGNC
Official Full Name: elastin microfibril interfacer 3provided by HGNC
Primary source: HGNC:HGNC:16123
See related: Ensembl:ENSG00000183798 MIM:608929; AllianceGenome:HGNC:16123
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EMILIN5; C20orf130; dJ620E11.4
Summary: Enables identical protein binding activity. Located in collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in ovary (RPKM 6.7), duodenum (RPKM 6.1) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q12

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (41359962..41366818, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (43091760..43098616, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (39988602..39995458, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

This study identified and validated a three-gene (EMP3, GSX2 and EMILIN3) prognostic signature in Lower-Grade Gliomas.
Title: Integrative Analysis of DNA Methylation and Gene Expression Identify a Three-Gene Signature for Predicting Prognosis in Lower-Grade Gliomas.
characterization of the expression and biochemical properties of EMILIN-3
Title: EMILIN-3, peculiar member of elastin microfibril interface-located protein (EMILIN) family, has distinct expression pattern, forms oligomeric assemblies, and serves as transforming growth factor β (TGF-β) antagonist.
Might play important roles in carcinogenesis of esophageal cancer.
Title: Preparation and characterization of a novel monoclonal antibody specific to human EMILIN-5 protein.
EMILIN-5 gene plays an important role in skeletal development(EMILIN-5)
Title: Molecular cloning and characterization of a novel gene, EMILIN-5, and its possible involvement in skeletal development.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-R52161 (e-PCR)
- UniSTS:68727

RH69661 (e-PCR)
- UniSTS:25476

SHGC-34161 (e-PCR)
- UniSTS:26109

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables extracellular matrix constituent conferring elasticity	ISS Inferred from Sequence or Structural Similarity more info
enables extracellular matrix constituent conferring elasticity	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
colocalizes_with collagen-containing extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: EMILIN-3

Names: EMILIN-5; elastin microfibril interface-located protein 3; elastin microfibril interface-located protein 5; elastin microfibril interfacer 5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.