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

    Gene ID: 30008, updated on 17-Jun-2024

    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; AllianceGenome:HGNC:3219
    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
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    Genomic context

    See EFEMP2 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65866441..65872800, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65860912..65867272, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65633912..65640271, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr11:65601289-65601501 Neighboring gene sorting nexin 32 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5009 Neighboring gene Sharpr-MPRA regulatory region 3467 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65618925-65619786 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5011 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:65625223-65625763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5013 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5014 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5015 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5016 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65627927-65628466 Neighboring gene cofilin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65629159-65629672 Neighboring gene MUS81 structure-specific endonuclease subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65632825-65633326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3563 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5017 Neighboring gene cathepsin W Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5018 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3564 Neighboring gene FGF1 intracellular binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3565 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
    Cutis laxa, autosomal recessive, type 1B
    MedGen: C3280798 OMIM: 614437 GeneReviews: EFEMP2-Related Cutis Laxa
    Compare labs

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: CFL1

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    enables heparin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in aorta development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in aorta smooth muscle tissue morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in elastic fiber assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in elastic fiber assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of vascular associated smooth muscle cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of aortic smooth muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of collagen fibril organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of smooth muscle cell-matrix adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of collagen fibril organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in vascular associated smooth muscle cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in basement membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in elastic fiber IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in elastic fiber ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular vesicle HDA PubMed 
    located_in microfibril ISS
    Inferred from Sequence or Structural Similarity
    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)

    NEW Try the new Transcript table

    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
      A8K7R4, B3KM31, B3KQT1, O75967, O95967
      UniProtKB/TrEMBL
      B2RCM5, Q6FH22, Q96TF5
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      65860912..65867272 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)