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    FBLN2 fibulin 2 [ Homo sapiens ]

    Gene ID: 2199, updated on 4-Feb-2012

    Summary

    Official Symbol
    FBLN2provided by HGNC
    Official Full Name
    fibulin 2provided by HGNC
    Primary source
    HGNC:3601
    See related
    Ensembl:ENSG00000163520; HPRD:00630; MIM:135821; Vega:OTTHUMG00000155437
    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
    Summary
    This gene encodes an extracellular matrix protein, which belongs to the fibulin family. This protein binds various extracellular ligands and calcium. It may play a role during organ development, in particular, during the differentiation of heart, skeletal and neuronal structures. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

    Genomic context

    Location :
    3p25.1
    Sequence :
    Chromosome: 3; NC_000003.11 (13590625..13679922)
    See FBLN2 in Epigenomics, MapViewer

    Chromosome 3 - NC_000003.11Genomic Context describing neighboring genes Neighboring gene proline-rich protein 3-like Neighboring gene histone deacetylase 11 Neighboring gene uncharacterized LOC100293612 Neighboring gene uncharacterized LOC285375 Neighboring gene wingless-type MMTV integration site family, member 7A

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_001989.1 NP_000129.2 FBN1    BIND  PubMed Fibrillin-1 interacts with Fibulin-2. 
    P98095 P16112 ACAN    HPRD  PubMed  
    P98095 P54259 ATN1    HPRD  PubMed  
    P98095 Q96GW7 BCAN    HPRD  PubMed  
    P98095 P39060 COL18A1    HPRD  PubMed  
    P98095 P02462 COL4A1    HPRD  PubMed  
    P98095 P08572 COL4A2    HPRD  PubMed  
    P98095 Q01955 COL4A3    HPRD  PubMed  
    P98095 P53420 COL4A4    HPRD  PubMed  
    P98095 P29400 COL4A5    HPRD  PubMed  
    P98095 Q14031 COL4A6    HPRD  PubMed  
    P98095 P15502 ELN    HPRD  PubMed  
    P98095 P98095 FBLN2    HPRD  PubMed  
    P98095 P35555 FBN1    HPRD  PubMed  
    P98095 P02751 FN1    HPRD  PubMed  
    P98095 P98160 HSPG2    HPRD  PubMed  
    P98095 P05106 ITGB3    HPRD  PubMed  
    P98095 P25391 LAMA1    HPRD  PubMed  
    P98095 O15230 LAMA5    HPRD  PubMed  
    P98095 Q13753 LAMC2    HPRD  PubMed  
    P98095 P14543 NID1    HPRD  PubMed  
    P98095 P51888 PRELP    HPRD  PubMed  
    P98095 P13611 VCAN    HPRD  PubMed  
    BioGRID:108493 BioGRID:106684 ACAN    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108493 BioGRID:121964 BCAN    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108493 BioGRID:108321 ELN    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108493 BioGRID:108493 FBLN2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108493 BioGRID:108494 FBN1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108493 BioGRID:108621 FN1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108493 BioGRID:109571 HSPG2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108493 BioGRID:129792 LAMA1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108493 BioGRID:110105 LAMA5    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108493 BioGRID:110876 NID1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108493 BioGRID:111540 PRELP    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108493 BioGRID:107844 VCAN    BioGRID  PubMed Reconstituted Complex 

    General gene information

    Markers

    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 
    Component Evidence Code Pubs
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    proteinaceous extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    fibulin-2
    Names
    fibulin-2
    FIBL-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_001004019.1NP_001004019.1  fibulin-2 isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents use of an alternate promoter and 5' UTR, compared to variant 3, and encodes the longer isoform (a). Both variants 1 and 3 encode the same isoform.
      Source sequence(s)
      AL050095, AY130459, BC051690, CB959783
      Consensus CDS
      CCDS46761.1
      UniProtKB/Swiss-Prot
      P98095
      UniProtKB/TrEMBL
      Q86V58
      UniProtKB/TrEMBL
      Q9Y3V7
      Related
      ENSP00000384169, OTTHUMP00000216671, ENST00000404922, OTTHUMT00000340082
      Conserved Domains (2) summary
      cd00017
      Location:430490
      Blast Score: 112
      ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...
      cl09941
      Location:10721120
      Blast Score: 113
      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 ...
    2. NM_001165035.1NP_001158507.1  fibulin-2 isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript, and encodes the longer isoform (a). Both variants 1 and 3 encode the same isoform.
      Source sequence(s)
      AC090509, AK304827, AL050095, AY130459, BC051690
      Consensus CDS
      CCDS46761.1
      UniProtKB/Swiss-Prot
      P98095
      UniProtKB/TrEMBL
      Q86V58
      UniProtKB/TrEMBL
      Q9Y3V7
      Related
      ENSP00000420042, OTTHUMP00000216670, ENST00000492059, OTTHUMT00000357623
      Conserved Domains (2) summary
      cd00017
      Location:430490
      Blast Score: 112
      ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...
      cl09941
      Location:10721120
      Blast Score: 113
      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 ...
    3. NM_001998.2NP_001989.2  fibulin-2 isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR and lacks an alternate in-frame exon in the central coding region, compared to variant 3. The resulting isoform (b) lacks an internal segment, compared to isoform a.
      Source sequence(s)
      AL050095, AY130459, BC051690, CB959783
      Consensus CDS
      CCDS46762.1
      UniProtKB/Swiss-Prot
      P98095
      UniProtKB/TrEMBL
      Q86V58
      UniProtKB/TrEMBL
      Q9Y3V7
      Related
      ENSP00000295760, OTTHUMP00000216672, ENST00000295760, OTTHUMT00000340083
      Conserved Domains (2) summary
      cd00017
      Location:430490
      Blast Score: 113
      ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...
      cl09941
      Location:10251073
      Blast Score: 114
      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 ...

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000003.11 Reference GRCh37.p5 Primary Assembly

      Range
      13590625..13679922
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000135.1 Alternate HuRef

      Range
      13524043..13613389
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC090509.2 (20529..109827) None
    genomic AY130458.1 AAN05435.1
    genomic CH471055.1 EAW64170.1
      EAW64171.1
    genomic FJ695211.1 None
    mRNA AK129883.1 None
    mRNA AK300913.1 BAH13375.1
    mRNA AK304777.1 BAH14254.1
    mRNA AK304827.1 BAH14261.1
    mRNA AL050095.1 CAB43267.1
    mRNA AL080171.1 None
    mRNA AY130459.1 AAN05436.1
    mRNA BC051690.1 AAH51690.1
    mRNA CB959783.1 None
    mRNA X82494.1 CAA57876.1
    Protein Accession Links
    GenePept Link UniProtKB Link
    P98095.2 GenPept UniProtKB/Swiss-Prot:P98095
    Q86V58 GenPept UniProtKB/TrEMBL:Q86V58
    Q9Y3V7 GenPept UniProtKB/TrEMBL:Q9Y3V7

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