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Aliases for FBLN7 Gene

Aliases for FBLN7 Gene

  • Fibulin 7 2 3 5
  • FIBL-7 3 4
  • TM14 3 4
  • Fibulin-7 3

External Ids for FBLN7 Gene

Previous GeneCards Identifiers for FBLN7 Gene

  • GC02P112613
  • GC02P112895
  • GC02P105408
  • GC02P112182
  • GC02P112183
  • GC02P112185
  • GC02P112706
  • GC02P112743

Summaries for FBLN7 Gene

GeneCards Summary for FBLN7 Gene

FBLN7 (Fibulin 7) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding and heparin binding.

UniProtKB/Swiss-Prot for FBLN7 Gene

  • 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.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBLN7 Gene

Genomics for FBLN7 Gene

Regulatory Elements for FBLN7 Gene

Enhancers for FBLN7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G112154 1.1 Ensembl ENCODE dbSUPER 13.9 +17.5 17482 2.6 ZBTB40 TEAD3 ZFHX2 EGR1 FOXK2 HNF4A FOS HNRNPL EGR2 FBLN7 RGPD8 MERTK TMEM87B ENSG00000278962
GH02G112137 0.8 ENCODE 16.2 -0.1 -119 1.8 DRAP1 SAP130 SUZ12 ZMYM3 ARID4B RBBP5 DMAP1 DNMT3B YY1 SLC30A9 FBLN7 RGPD8 GC02P113174
GH02G112152 1.1 ENCODE dbSUPER 11.1 +14.7 14667 1.9 HDAC1 ELF3 SOX13 FOXA2 SAP130 ZIC2 TEAD3 RARA ZNF316 ZNF766 ZC3H6 FBLN7 ENSG00000278962
GH02G112149 1.1 Ensembl ENCODE dbSUPER 10.8 +12.0 12029 2.4 BHLHE40 MAX CHAMP1 ZNF316 JUND GATA2 FOS ZNF24 MAFK MYC ZC3H6 FBLN7 TMEM87B RGPD8 ENSG00000278962
GH02G111945 1.2 Ensembl ENCODE 9.8 -192.0 -192011 2.7 PKNOX1 FOXA2 ARID4B YY1 FOS ZHX2 MIER2 REST PPARG ZNF592 MERTK TMEM87B FBLN7 LOC100422091 LOC100420892
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FBLN7 on UCSC Golden Path with GeneCards custom track

Promoters for FBLN7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000121901 615 1601 SAP130 SUZ12 ZMYM3 ARID4B CBX2 RBBP5 DNMT3B YY1 E2F1 MBD1

Genomic Location for FBLN7 Gene

Chromosome:
2
Start:
112,138,385 bp from pter
End:
112,188,218 bp from pter
Size:
49,834 bases
Orientation:
Plus strand

Genomic View for FBLN7 Gene

Genes around FBLN7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBLN7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBLN7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBLN7 Gene

Proteins for FBLN7 Gene

  • Protein details for FBLN7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53RD9-FBLN7_HUMAN
    Recommended name:
    Fibulin-7
    Protein Accession:
    Q53RD9
    Secondary Accessions:
    • A0JNV1
    • A0JNV2
    • Q5H9P5
    • Q8N9G0

    Protein attributes for FBLN7 Gene

    Size:
    439 amino acids
    Molecular mass:
    47376 Da
    Quaternary structure:
    • 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).

    Alternative splice isoforms for FBLN7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FBLN7 Gene

Post-translational modifications for FBLN7 Gene

No data available for DME Specific Peptides for FBLN7 Gene

Domains & Families for FBLN7 Gene

Gene Families for FBLN7 Gene

Suggested Antigen Peptide Sequences for FBLN7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q53RD9

UniProtKB/Swiss-Prot:

FBLN7_HUMAN :
  • Belongs to the fibulin family.
Family:
  • Belongs to the fibulin family.
genes like me logo Genes that share domains with FBLN7: view

Function for FBLN7 Gene

Molecular function for FBLN7 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for FBLN7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0008201 heparin binding IEA --
genes like me logo Genes that share ontologies with FBLN7: view
genes like me logo Genes that share phenotypes with FBLN7: view

Animal Model Products

  • Taconic Biosciences Mouse Models for FBLN7

miRNA for FBLN7 Gene

miRTarBase miRNAs that target FBLN7

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FBLN7 Gene

Localization for FBLN7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBLN7 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FBLN7 gene
Compartment Confidence
extracellular 5
plasma membrane 2

Gene Ontology (GO) - Cellular Components for FBLN7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005925 focal adhesion IDA 21423176
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with FBLN7: view

Pathways & Interactions for FBLN7 Gene

SuperPathways for FBLN7 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FBLN7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
genes like me logo Genes that share ontologies with FBLN7: view

No data available for Pathways by source and SIGNOR curated interactions for FBLN7 Gene

Drugs & Compounds for FBLN7 Gene

No Compound Related Data Available

Transcripts for FBLN7 Gene

Unigene Clusters for FBLN7 Gene

Fibulin 7:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FBLN7 Gene

No ASD Table

Relevant External Links for FBLN7 Gene

GeneLoc Exon Structure for
FBLN7
ECgene alternative splicing isoforms for
FBLN7

Expression for FBLN7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FBLN7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FBLN7 Gene

This gene is overexpressed in Urine (24.9), Bone marrow mesenchymal stem cell (10.3), and Pancreas (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FBLN7 Gene



NURSA nuclear receptor signaling pathways regulating expression of FBLN7 Gene:

FBLN7

SOURCE GeneReport for Unigene cluster for FBLN7 Gene:

Hs.437696

Evidence on tissue expression from TISSUES for FBLN7 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with FBLN7: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FBLN7 Gene

Orthologs for FBLN7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FBLN7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBLN7 34 35
  • 99.16 (n)
cow
(Bos Taurus)
Mammalia FBLN7 34 35
  • 89.52 (n)
dog
(Canis familiaris)
Mammalia FBLN7 34 35
  • 88.84 (n)
mouse
(Mus musculus)
Mammalia Fbln7 34 16 35
  • 86.33 (n)
rat
(Rattus norvegicus)
Mammalia Fbln7 34
  • 86.07 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 80 (a)
OneToMany
-- 35
  • 65 (a)
OneToMany
-- 35
  • 64 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia FBLN7 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBLN7 34 35
  • 71.58 (n)
lizard
(Anolis carolinensis)
Reptilia FBLN7 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbln7 34
  • 67.27 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100000083 34
  • 65.54 (n)
FBLN7 35
  • 63 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3758 35
  • 35 (a)
OneToOne
Species where no ortholog for FBLN7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FBLN7 Gene

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

Paralogs for FBLN7 Gene

(10) SIMAP similar genes for FBLN7 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with FBLN7: view

No data available for Paralogs for FBLN7 Gene

Variants for FBLN7 Gene

Sequence variations from dbSNP and Humsavar for FBLN7 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000024939 -- 112,159,897(+) CGAGA(C/T)GCTCC intron-variant
rs1000027056 -- 112,150,139(+) AGATT(A/T)GTTCC intron-variant
rs1000029067 -- 112,214,182(+) ACCTC(A/G)TGATC intron-variant
rs1000044486 -- 112,189,486(+) TCTCT(A/G)TATGC intron-variant, utr-variant-3-prime
rs1000125122 -- 112,142,796(+) TGTAT(A/G)TGTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FBLN7 Gene

Variant ID Type Subtype PubMed ID
dgv4047n100 CNV loss 25217958
esv1152452 CNV deletion 17803354
esv1437076 CNV deletion 17803354
esv22302 CNV loss 19812545
esv2720527 CNV deletion 23290073
esv2720529 CNV deletion 23290073
nsv1149522 OTHER inversion 26484159
nsv521956 CNV loss 19592680
nsv582699 CNV loss 21841781
nsv582703 CNV loss 21841781
nsv954791 CNV deletion 24416366

Variation tolerance for FBLN7 Gene

Residual Variation Intolerance Score: 63.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.22; 62.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FBLN7 Gene

Human Gene Mutation Database (HGMD)
FBLN7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBLN7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBLN7 Gene

Disorders for FBLN7 Gene

Relevant External Links for FBLN7

Genetic Association Database (GAD)
FBLN7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FBLN7

No disorders were found for FBLN7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FBLN7 Gene

Publications for FBLN7 Gene

  1. TM14 is a new member of the fibulin family (fibulin-7) that interacts with extracellular matrix molecules and is active for cell binding. (PMID: 17699513) de Vega S. … Yamada Y. (J. Biol. Chem. 2007) 2 3 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  4. A C-terminal fragment of fibulin-7 interacts with endothelial cells and inhibits their tube formation in culture. (PMID: 24480309) de Vega S. … Yamada Y. (Arch. Biochem. Biophys. 2014) 3 64
  5. Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations. (PMID: 24694933) Russell M.W. … Innis J.W. (Hum. Mol. Genet. 2014) 3 64

Products for FBLN7 Gene

Sources for FBLN7 Gene

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