EMILIN2 elastin microfibril interfacer 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EMILIN2provided by HGNC
Official Full Name: elastin microfibril interfacer 2provided by HGNC
Primary source: HGNC:HGNC:19881
See related: Ensembl:ENSG00000132205 MIM:608928; AllianceGenome:HGNC:19881
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: FOAP-10; EMILIN-2
Summary: Predicted to enable extracellular matrix constituent conferring elasticity. Predicted to be involved in cell adhesion. Located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in placenta (RPKM 19.1), appendix (RPKM 17.1) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18p11.32-p11.31

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (2846232..2916003)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (3001875..3071504)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (2847004..2916001)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Decreased EMILIN2 correlates to metabolism phenotype and poor prognosis of ovarian cancer.
Title: Decreased EMILIN2 correlates to metabolism phenotype and poor prognosis of ovarian cancer.
Expression, methylation and prognostic feature of EMILIN2 in Low-Grade-Glioma.
Title: Expression, methylation and prognostic feature of EMILIN2 in Low-Grade-Glioma.
Loss of Multimerin-2 and EMILIN-2 Expression in Gastric Cancer Associate with Altered Angiogenesis
Title: Loss of Multimerin-2 and EMILIN-2 Expression in Gastric Cancer Associate with Altered Angiogenesis.
High EMILIN2 expression is associated with angiogenesis in B16 melanoma.
Title: The ablation of the matricellular protein EMILIN2 causes defective vascularization due to impaired EGFR-dependent IL-8 production affecting tumor growth.
Data suggested mechanisms for homo- and hetero-typic EMILINs multimers formation: EMILIN1 or EMILIN2 alone can form trimers and multimers in the absence of each other or they can co-polymerize in a head-to-tail fashion to form hetero-typic multimers.
Title: Multiple-interactions among EMILIN1 and EMILIN2 N- and C-terminal domains.
Identify emilin2 as a key extracellular regulator of the Wnt signalling pathway suppressing breast cancer cell growth and migration.
Title: EMILIN2 down-modulates the Wnt signalling pathway and suppresses breast cancer cell growth and migration.
Apoptosis plays a fundamental role in maintaining epidermal homeostasis, balancing keratinocytes proliferation, and forming the stratum corneum. EMILIN2 is known to trigger the apoptosis of different cell lines
Title: Identification of an interstitial 18p11.32-p11.31 duplication including the EMILIN2 gene in a family with porokeratosis of Mibelli.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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

EBI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D18S513 (e-PCR)
- UniSTS:148482

D18S1098 (e-PCR), detects polymorphism
- UniSTS:4883

SHGC-110275 (e-PCR)
- UniSTS:167754

NoName (e-PCR)
- UniSTS:490322

RH98472 (e-PCR)
- UniSTS:87144

D18S1027 (e-PCR)
- UniSTS:58267

D18S1301 (e-PCR)
- UniSTS:81578

D18S503 (e-PCR)
- UniSTS:148472

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables extracellular matrix constituent conferring elasticity	NAS Non-traceable Author Statement more info	PubMed
enables extracellular matrix constituent conferring elasticity	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell adhesion mediated by integrin	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of angiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of blood coagulation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of defense response to bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of platelet aggregation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of blood pressure	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of EMILIN complex	ISS Inferred from Sequence or Structural Similarity more info
part_of collagen trimer	IEA Inferred from Electronic Annotation more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: EMILIN-2

Names: elastin microfibril interface-located protein 2; extracellular glycoprotein EMILIN-2

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.

mRNA and Protein(s)

NM_032048.3 → NP_114437.2 EMILIN-2 precursor

See identical proteins and their annotated locations for NP_114437.2

Status: VALIDATED

Source sequence(s)

AF270513, AI356740, AK090519, AL552384, AP000919, AP001011, BX398832

Consensus CDS

CCDS11828.1

UniProtKB/Swiss-Prot

B2RMY3, Q8NBH3, Q96JQ4, Q9BXX0

Related

ENSP00000254528.3, ENST00000254528.4

Conserved Domains (4) summary

pfam01391
Location:849 → 901

Collagen; Collagen triple helix repeat (20 copies)

pfam07546
Location:46 → 114

EMI; EMI domain

cl02488
Location:261 → 433

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl23878
Location:908 → 1046

C1q; C1q domain