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

Gene ID: 30008, updated on 14-May-2016
Official Symbol
EFEMP2provided by HGNC
Official Full Name
EGF containing fibulin like extracellular matrix protein 2provided by HGNC
Primary source
HGNC:HGNC:3219
See related
Ensembl:ENSG00000172638 HPRD:05221; MIM:604633; Vega:OTTHUMG00000166664
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]
Orthologs
Location:
11q13.1
Exon count:
12
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (65866441..65872934, 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 sorting nexin 32 Neighboring gene uncharacterized LOC105369348 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
  • Elastic fibre formation, organism-specific biosystem (from REACTOME)
    Elastic fibre formation, organism-specific biosystemElastic fibres (EF) are a major structural constituent of dynamic connective tissues such as large arteries and lung parenchyma, where they provide essential properties of elastic recoil and resilien...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Molecules associated with elastic fibres, organism-specific biosystem (from REACTOME)
    Molecules associated with elastic fibres, organism-specific biosystemProteins found associated with microfibrils include vitronectin (Dahlback et al. 1990), latent transforming growth factor beta-binding proteins (Kielty et al. 2002, Munger & Sheppard 2011), emilin (B...
Products Interactant Other Gene Complex Source Pubs Description

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 TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
basement membrane TAS
Traceable Author Statement
more info
PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular vesicle IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
EGF-containing fibulin-like extracellular matrix protein 2
Names
EGF containing fibulin-like extracellular matrix protein 2
FIBL-4
fibulin 4
fibulin-4
mutant p53 binding protein 1

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
    5001..11494
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_016938.4NP_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, AP001201, BC010456, BC018871, BP382163, BQ478413
    Consensus CDS
    CCDS8116.1
    UniProtKB/Swiss-Prot
    O95967
    UniProtKB/TrEMBL
    A0A024R5G1, Q9H3D5
    Related
    ENSP00000309953, OTTHUMP00000233968, ENST00000307998, OTTHUMT00000391047
    Conserved Domains (4) summary
    smart00179
    Location:164197
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:123163
    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 ...
    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_037718.1 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)
    AP001201, BC010456, BC018871, BP382163, BQ478413

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    65866441..65872934 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    65518326..65524819 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)