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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
  • GC02P112901
  • GC02P113124

Summaries for FBLN7 Gene

GeneCards Summary for FBLN7 Gene

FBLN7 (Fibulin 7) is a Protein Coding gene. Gene Ontology (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.

Additional gene information for FBLN7 Gene

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

GeneHancer (GH) Regulatory Elements for FBLN7 Gene

Promoters and enhancers for FBLN7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I112137 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 566.2 +0.2 204 2.4 DRAP1 SAP130 ZNF449 SUZ12 ARID4B DMAP1 DNMT3B YY1 SLC30A9 E2F1 FBLN7 RGPD8 ENSG00000278962
GH02I112154 Enhancer 1 Ensembl ENCODE dbSUPER 13.9 +17.5 17481 2.6 ZFHX2 EGR1 EBF1 HNF4A FOS GABPA EGR2 TEAD3 FBLN7 RGPD8 MERTK TMEM87B ENSG00000278962
GH02I111897 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 5.6 -239.1 -239074 3.8 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 SP3 MERTK TMEM87B RGPD8 ZC3H6 ANAPC1 POLR1B FBLN7 RN7SL297P
GH02I111945 Enhancer 1.1 Ensembl ENCODE 9.8 -192.0 -192010 2.7 PKNOX1 FOXA2 ARID4B NEUROD1 YY1 ATF7 FOS RXRA MIER2 REST MERTK TMEM87B FBLN7 LOC100420892 LOC100422091
GH02I112086 Enhancer 0.6 ENCODE 16.7 -51.0 -50951 1.5 EBF1 BATF ATF2 IRF4 RELA BCL11A IKZF1 ETV6 BCLAF1 MAFK FBLN7 TMEM87B ZC3H6 MERTK LOC105373560 GC02P113650
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FBLN7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FBLN7 gene promoter:

Genomic Locations for FBLN7 Gene

Genomic Locations for FBLN7 Gene
chr2:112,138,385-112,188,218
(GRCh38/hg38)
Size:
49,834 bases
Orientation:
Plus strand
chr2:112,895,962-112,945,791
(GRCh37/hg19)

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

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.

Phenotypes From GWAS Catalog for FBLN7 Gene

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

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Plasma membrane (2)
See all subcellular structures

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,HDA 21423176
GO:0070062 extracellular exosome HDA,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

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 33
  • 99.16 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FBLN7 33 34
  • 89.52 (n)
dog
(Canis familiaris)
Mammalia FBLN7 34 33
  • 88.84 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fbln7 33 16 34
  • 86.33 (n)
rat
(Rattus norvegicus)
Mammalia Fbln7 33
  • 86.07 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 80 (a)
OneToMany
-- 34
  • 65 (a)
OneToMany
-- 34
  • 64 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia FBLN7 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBLN7 33 34
  • 71.58 (n)
lizard
(Anolis carolinensis)
Reptilia FBLN7 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbln7 33
  • 67.27 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100000083 33
  • 65.54 (n)
FBLN7 34
  • 63 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3758 34
  • 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 Variation AA Info Type
rs1000024939 -- 112,159,897(+) C/T intron_variant
rs1000027056 -- 112,150,139(+) A/T intron_variant
rs1000029067 -- 112,214,182(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000044486 -- 112,189,486(+) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs1000125122 -- 112,142,796(+) G/A 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)

Additional Variant Information for FBLN7 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for FBLN7 Gene

Additional Disease Information for 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 (The Journal of biological chemistry 2007) 2 3 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. (PMID: 28065597) Yao Z … Stagljar I (Molecular cell 2017) 3 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for FBLN7 Gene

Sources for FBLN7 Gene

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