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

Gene ID: 84034, updated on 1-Jun-2020

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
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
Expression
Broad expression in placenta (RPKM 19.1), appendix (RPKM 17.1) and 22 other tissues See more
Orthologs

Genomic context

See EMILIN2 in Genome Data Viewer
Location:
18p11.32-p11.31
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (2847006..2916003)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (2846786..2914090)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene chromobox 3 pseudogene 2 Neighboring gene structural maintenance of chromosomes flexible hinge domain containing 1 Neighboring gene Sharpr-MPRA regulatory region 4434 Neighboring gene lipin 2 Neighboring gene CHORDC1 pseudogene 4 Neighboring gene uncharacterized LOC105371963

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ33200

Gene Ontology Provided by GOA

Function Evidence Code Pubs
extracellular matrix constituent conferring elasticity NAS
Non-traceable Author Statement
more info
PubMed 
extracellular matrix constituent conferring elasticity RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
collagen trimer IEA
Inferred from Electronic Annotation
more info
 
collagen-containing extracellular matrix HDA PubMed 
extracellular region IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
EMILIN-2
Names
elastin microfibril interface-located protein 2
extracellular glycoprotein EMILIN-2

NCBI Reference Sequences (RefSeq)

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)

  1. NM_032048.3NP_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
    Q9BXX0
    Related
    ENSP00000254528.3, ENST00000254528.4
    Conserved Domains (4) summary
    pfam01391
    Location:849901
    Collagen; Collagen triple helix repeat (20 copies)
    pfam07546
    Location:46114
    EMI; EMI domain
    cl02488
    Location:261433
    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:9081046
    C1q; C1q domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    2847006..2916003
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026038.2XP_016881527.1  EMILIN-2 isoform X1

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