Aliases for FBLN7 Gene
External Ids for FBLN7 Gene
- HGNC: 26740
- Entrez Gene: 129804
- Ensembl: ENSG00000144152
- OMIM: 611551
- UniProtKB: Q53RD9
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 | 16.1 | -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 LOC100420892 LOC100422091 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around FBLN7 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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:
-
- 2q13 by Ensembl
- 2q13-q14.1 by Entrez Gene
- 2q13 by HGNC
FBLN7 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for FBLN7 Gene
Post-translational modifications for FBLN7 Gene
- N-glycosylated.
- Glycosylation at isoforms=2, 3, 4124 and Asn307
- Modification sites at PhosphoSitePlus
Other Protein References for FBLN7 Gene
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for FBLN7
- Novus Biologicals Antibodies for FBLN7
- Invitrogen Antibodies for FBLN7
- antibodies-online Antibodies for FBLN7: See all 34
- GeneTex FBLN7 antibody for FBLN7
Protein Products
- R&D Systems Proteins and Enzymes for FBLN7 (Fibulin 7)
-
OriGene Purified Proteins for FBLN7
- Search Origene for MassSpec and Protein Over-expression Lysates for FBLN7
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-
Cloud-Clone Corp. Proteins for FBLN7
- Search GeneTex for Proteins for FBLN7
Assay Products
- antibodies-online Kits for FBLN7: See all 5
No data available for DME Specific Peptides for FBLN7 Gene
Domains & Families for FBLN7 Gene
Gene Families for FBLN7 Gene
Protein Domains for FBLN7 Gene
Suggested Antigen Peptide Sequences for FBLN7 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q53RD9- Family:
-
- Belongs to the fibulin family.
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005509 | calcium ion binding | IEA | -- |
| GO:0008201 | heparin binding | IEA | -- |
Phenotypes for FBLN7 Gene
- GenomeRNAi human phenotypes for FBLN7:
Animal Model Products
-
Taconic Biosciences Mouse Models for FBLN7
-
ViGene Biosciences lentiviral particle packaged cDNA for FBLN7 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for FBLN7 gene
- Search ViGene Biosciences for FBLN7
miRNA for FBLN7 Gene
- miRTarBase miRNAs that target FBLN7
miRNA Products
- Search ViGene Biosciences for FBLN7
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for FBLN7
- Browse OriGene Inhibitory RNA Products For FBLN7
-
ViGene Biosciences ready-to-package AAV shRNAs for FBLN7 gene
Clone Products
- Sino Biological Human cDNA Clone for FBLN7
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Cell Line Products
-
Horizon Cell Lines for FBLN7
-
ViGene Biosciences adenoviral particle packaged cDNA for FBLN7 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for FBLN7 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for FBLN7 gene
Flow Cytometry 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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| plasma membrane | 2 |
| 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 |
Pathways & Interactions for FBLN7 Gene
No Data Available
Interacting Proteins for FBLN7 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007155 | cell adhesion | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for FBLN7 Gene
Transcripts for FBLN7 Gene
mRNA/cDNA for FBLN7 Gene
- (8) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (36) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
miRNA Products
- Search ViGene Biosciences for FBLN7
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for FBLN7
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-
ViGene Biosciences ready-to-package AAV shRNAs for FBLN7 gene
Clone Products
- Sino Biological Human cDNA Clone for FBLN7
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Flow Cytometry Products
Expression for FBLN7 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
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:
FBLN7SOURCE GeneReport for Unigene cluster for FBLN7 Gene:
Hs.437696Evidence on tissue expression from TISSUES for FBLN7 Gene
- Nervous system(4.2)
Primer Products
-
OriGene qPCR primer pairs for FBLN7
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FBLN7 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | FBLN7 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | FBLN7 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Fbln7 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fbln7 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | FBLN7 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FBLN7 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FBLN7 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | fbln7 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC100000083 34 |
|
||
| FBLN7 35 |
|
OneToOne | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.3758 35 |
|
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)
Paralogs for FBLN7 Gene
(10) SIMAP similar genes for FBLN7 Gene using alignment to 4 proteins:
No data available for Paralogs for FBLN7 Gene
Variants 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 |
| 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBLN7 Gene
Disorders for FBLN7 Gene
Relevant External Links 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
- 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
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
- The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
- 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
- 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
- Browse R&D Systems for Antibodies
- R&D Systems Proteins and Enzymes for FBLN7 (Fibulin 7)
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- Custom Antibody ServicesOriGene Antibodies for FBLN7
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- Custom Assay Services
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- OriGene qPCR primer pairs for FBLN7
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- Novus Biologicals Antibodies for FBLN7
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- Cloud-Clone Corp. Proteins for FBLN7
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- Taconic Biosciences Mouse Models for FBLN7
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- antibodies-online Antibodies for FBLN7: See all 34
- antibodies-online Kits for FBLN7: See all 5
- Search antibodies-online for proteins
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- GeneTex FBLN7 antibody for FBLN7
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- ViGene Biosciences adenoviral particle packaged cDNA for FBLN7 gene
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- Horizon Cell Lines for FBLN7
- Cyagen custom Knockout/knockin (KOKI) mouse models for FBLN7
- VectorBuilder custom plasmid, inducible vectors for FBLN7
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for FBLN7 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
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- (115) ProteomicsDB
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- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer