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FBLN7 Gene

protein-coding   GIFtS: 47
GCID: GC02P112895

Fibulin 7

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Fibulin 71 2
TM142 3 5
FIBL-72 3
fibulin-72

External Ids:    HGNC: 267401   Entrez Gene: 1298042   Ensembl: ENSG000001441527   OMIM: 6115515   UniProtKB: Q53RD93   

Export aliases for FBLN7 gene to outside databases

Previous GC identifers: GC02P112613 GC02P105408


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for FBLN7 Gene:
FBLN7 (fibulin 7) is a protein-coding gene. GO annotations related to this gene include heparin binding and calcium ion binding.

UniProtKB/Swiss-Prot: FBLN7_HUMAN, Q53RD9
Function: An adhesion molecule that interacts with extracellular matrix molecules in developing teeth and may play
important roles in differentiation and maintenance of odontoblasts as well as in dentin formation (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FBLN7 gene promoter:
         FOXF2   Tal-1beta   MEF-2A   N-Myc   HFH-1   Msx-1   aMEF-2   ITF-2   ATF6   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for FBLN7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FBLN7


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q13   Ensembl cytogenetic band:  2q13   HGNC cytogenetic band: 2q13

FBLN7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBLN7 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P112895:  view genomic region     (about GC identifiers)

Start:
112,895,962 bp from pter      End:
112,945,791 bp from pter
Size:
49,830 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: FBLN7_HUMAN, Q53RD9 (See protein sequence)
Recommended Name: Fibulin-7 precursor  
Size: 439 amino acids; 47376 Da
Subunit: Interacts with heparin, FBLN1, FN1 and DSPP. Preferentially binds dental mesenchyme cells and
odontoblasts but not dental epithelial cells or nondental cells. Binding requires a heparan sulfate-containing
receptor on the cell surface as well as an integrin (By similarity)
Secondary accessions: A0JNV1 A0JNV2 Q5H9P5 Q8N9G0
Alternative splicing: 4 isoforms:  Q53RD9-1   Q53RD9-2   Q53RD9-3   Q53RD9-4   

Explore the universe of human proteins at neXtProt for FBLN7: NX_Q53RD9

Explore proteomics data for FBLN7 at MOPED

Post-translational modifications: 

  • N-glycosylated (By similarity)1
  • Glycosylation2 at Asn124, Asn307

  • See FBLN7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001121637.1  NP_694946.2  

    ENSEMBL proteins: 
     ENSP00000331411   ENSP00000386295   ENSP00000386822   ENSP00000387000   ENSP00000388025  
     ENSP00000272559  

    FBLN7 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for FBLN7

     
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    antibodies-online proteins for FBLN7 (2 products) 

     
    antibodies-online peptides for FBLN7

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    antibodies-online antibodies for FBLN7 (23 products) 

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    Search eBioscience for ELISAs for FBLN7 
    antibodies-online kits for FBLN7 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FBLN: Fibulins

    Selected InterPro protein domains (see all 6):
     IPR000742 EG-like_dom
     IPR000436 Sushi_SCR_CCP
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS
     IPR001881 EGF-like_Ca-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q53RD9

    ProtoNet protein and cluster: Q53RD9

    4 Blocks protein domains:
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB000436 Sushi domain/SCR domain/CCP module
    IPB001438 Type II EGF-like signature
    IPB001881 EGF-like calcium-binding


    UniProtKB/Swiss-Prot: FBLN7_HUMAN, Q53RD9
    Similarity: Belongs to the fibulin family
    Similarity: Contains 3 EGF-like domains
    Similarity: Contains 1 Sushi (CCP/SCR) domain


    Find genes that share domains with FBLN7           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FBLN7_HUMAN, Q53RD9
    Function: An adhesion molecule that interacts with extracellular matrix molecules in developing teeth and may play
    important roles in differentiation and maintenance of odontoblasts as well as in dentin formation (By similarity)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
    GO:0008201heparin binding IEA--
         
    Find genes that share ontologies with FBLN7           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for FBLN7:
     Decreased BPV1 E2 protein expr  Increased HPV18 LCR reporter a 

         1 MGI phenotypic allele for Fbln7 (no phenotypes)

    Find genes that share phenotypes with FBLN7           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for FBLN7

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidFBLN7 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FBLN7_HUMAN, Q53RD9: Secreted, extracellular space, extracellular matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix IEA--

    Find genes that share ontologies with FBLN7           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FBLN7
    Interactions:

        Search GeneGlobe Interaction Network for FBLN7

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--

    Find genes that share ontologies with FBLN7           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FBLN7



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for FBLN7 gene (2 alternative transcripts): 
    NM_001128165.1  NM_153214.2  

    Unigene Cluster for FBLN7:

    Fibulin 7
    Hs.437696  [show with all ESTs]
    Unigene Representative Sequence: CR933697
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000331203(uc002tho.1 uc010fki.1 uc010fkj.1) ENST00000409903
    ENST00000409667 ENST00000409450 ENST00000472377 ENST00000441565 ENST00000272559

    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate FBLN7:
    hsa-miR-601 hsa-miR-539 hsa-miR-616* hsa-miR-373*
    SwitchGear 3'UTR luciferase reporter plasmidFBLN7 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat FBLN7
      QuantiFast Probe-based Assays in human, mouse, rat FBLN7

    Additional mRNA sequence: 

    AK094759.1 AK124067.1 BC035784.1 BC038242.1 BC126986.1 BC126987.1 CR933697.1 

    6 DOTS entries:

    DT.100751791  DT.100667803  DT.100019227  DT.100019228  DT.102823325  DT.86850052 

    Selected AceView cDNA sequences (see all 36):

    BC038242 CR620397 BC035784 BF439555 C02224 BM720649 BF061402 CB131234 
    AI669723 BU687225 BF432054 BE855992 NM_153214 AK094759 BQ923452 BM678869 
    BM720298 BE218951 BX451431 CB266016 BE677799 AK124067 N35987 AL542957 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FBLN7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATTCTGCCT
    FBLN7 Expression
    About this image


    FBLN7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Bone (Muscoskeletal System)
             Endochondral Facial Bones
     
     Thyroid (Endocrine System)
    FBLN7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FBLN7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.437696
        Custom PCR Arrays for FBLN7
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for FBLN7 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fbln71 , 5 fibulin 71, 5 86.33(n)1
    84.97(a)1
      2 (62.63 cM)5
    703701  NM_024237.41  NP_077199.21 
     1288629815 
    chicken
    (Gallus gallus)
    Aves FBLN71 fibulin 7 71.58(n)
    67.7(a)
      421229  XM_003640886.2  XP_003640934.1 
    lizard
    (Anolis carolinensis)
    Reptilia FBLN76
    fibulin 7
    66(a)
    1 ↔ 1
    GL343437.1(173619-201445)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fbln71 fibulin 7 67.27(n)
    69.7(a)
      100485903  XM_002940399.2  XP_002940445.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1000000831 fibulin-7-like 65.54(n)
    66.11(a)
      100000083  XM_001918937.4  XP_001918972.3 


    ENSEMBL Gene Tree for FBLN7 (if available)
    TreeFam Gene Tree for FBLN7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FBLN7 gene
    10 SIMAP similar genes for FBLN7 using alignment to 4 protein entries:     FBLN7_HUMAN (see all proteins):
    cd21    F9    NOTCH3    NELL2    EFEMP1    MBP1
    FBLN1    PROS1    FBLN2    FBLN5

    Find genes that share paralogs with FBLN7           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FBLN7 (see all 1114)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs728297021,2
    C,F--112894004(+) CCAGAA/GCAAGG 2 -- us2k11Minor allele frequency- G:0.03NA 120
    rs116770751,2
    C,F,A,H--112894026(+) AACAGC/TTGGCC 2 -- us2k1 tfbs37Minor allele frequency- T:0.21NA CSA WA EA 365
    rs1401393141,2
    --112894060(+) ACACAA/GGGTGG 2 -- us2k10--------
    rs1151810791,2
    F--112894067(+) GTGGGA/GTAGGA 2 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1437720571,2
    --112894412(+) GGGTCA/CTTTGA 2 -- us2k10--------
    rs1878638391,2
    --112894465(+) TGTCTC/GTACTA 2 -- us2k10--------
    rs1896989121,2
    --112894521(+) CAGCTA/GCTTGG 2 -- us2k10--------
    rs1463586391,2
    C--112894623(+) AAGACA/GCCGTC 2 -- us2k10--------
    rs1485432031,2
    --112894625(+) GACGCC/TGTCTC 2 -- us2k10--------
    rs1823337261,2
    --112894690(+) TGGGGA/GAGCAG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for FBLN7 (112895962 - 112945791 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for FBLN7:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2720527CNV Deletion23290073
    esv1152452CNV Deletion17803354
    esv2720529CNV Deletion23290073
    esv1437076CNV Deletion17803354
    nsv874867CNV Loss21882294
    esv22302CNV Loss19812545
    nsv521956CNV Loss19592680
    nsv874866CNV Loss21882294
    nsv874863CNV Loss21882294
    dgv4278n71CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611551    OMIM disorders: --


    Find genes that share disorders with FBLN7           About GenesLikeMe

    Genetic Association Database (GAD): FBLN7

    Export disorders for FBLN7 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FBLN7 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FBLN7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. TM14 is a new member of the fibulin family (fibulin-7) that interacts with extracellular matrix molecules and is active for cell binding. (PubMed id 17699513)1, 3 de Vega S....Yamada Y. (J. Biol. Chem. 2007)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Anti-Ro/SSA autoantibody-mediated regulation of extracellular matrix fibulins in human epithelial cells of the salivary gland. (PubMed id 19229767)1 Lisi S....Sisto M. (Scand. J. Rheumatol. 2009)
    4. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    6. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 129804 HGNC: 26740 AceView: FLJ37440 Ensembl:ENSG00000144152 euGenes: HUgn129804
    ECgene: FBLN7 H-InvDB: FBLN7

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FBLN7 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FBLN7 gene:
    Search GeneIP for patents involving FBLN7

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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