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EFEMP2 EGF containing fibulin extracellular matrix protein 2 [ Homo sapiens (human) ]

Gene ID: 30008, updated on 20-Dec-2019

Summary

Official Symbol
EFEMP2provided by HGNC
Official Full Name
EGF containing fibulin extracellular matrix protein 2provided by HGNC
Primary source
HGNC:HGNC:3219
See related
Ensembl:ENSG00000172638 MIM:604633
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MBP1; UPH1; FBLN4; ARCL1B
Summary
A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]
Expression
Ubiquitous expression in ovary (RPKM 37.0), endometrium (RPKM 33.0) and 24 other tissues See more
Orthologs

Genomic context

See EFEMP2 in Genome Data Viewer
Location:
11q13.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (65866441..65872800, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65633912..65640405, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene OVOL1 antisense RNA 1 Neighboring gene ovo like transcriptional repressor 1 Neighboring gene sorting nexin 32 Neighboring gene cofilin 1 Neighboring gene MUS81 structure-specific endonuclease subunit Neighboring gene cathepsin W Neighboring gene FGF1 intracellular binding protein Neighboring gene coiled-coil domain containing 85B

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

Associated conditions

Description Tests
Autosomal recessive cutis laxa type 1B
MedGen: C3280798 OMIM: 614437 GeneReviews: EFEMP2-Related Cutis Laxa
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NHGRI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: CFL1

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
elastic fiber assembly IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
EGF-containing fibulin-like extracellular matrix protein 2
Names
EGF containing fibulin like extracellular matrix protein 2
FIBL-4
fibulin 4
mutant p53 binding protein 1

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.

Genomic

  1. NG_012304.2 RefSeqGene

    Range
    5135..11494
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_016938.5NP_058634.4  EGF-containing fibulin-like extracellular matrix protein 2 precursor

    See identical proteins and their annotated locations for NP_058634.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
    Source sequence(s)
    AF124486, BC010456, BC018871, BP382163, BQ478413
    Consensus CDS
    CCDS8116.1
    UniProtKB/Swiss-Prot
    O95967
    UniProtKB/TrEMBL
    A0A024R5G1, Q9H3D5
    Related
    ENSP00000309953.6, ENST00000307998.11
    Conserved Domains (3) summary
    smart00179
    Location:123163
    EGF_CA; Calcium-binding EGF-like domain
    cl00057
    Location:241276
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    cl21504
    Location:283310
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

RNA

  1. NR_037718.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal segment, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC010456, BC018871, BP382163, BQ478413
    Related
    ENST00000528176.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    65866441..65872800 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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