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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FBLN7 Gene

protein-coding GIFtS: 44
GCID: GC02P112895

fibulin 7

Search for FBLN7
in

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Fibulin 7¹ ²
TM14¹ ² ³ ⁵
FIBL-7² ³
FLJ37440¹
Fibulin-7¹

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_022135.16

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for FBLN7

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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)

Subcellular location: Secreted, extracellular space, extracellular matrix (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

Post-translational modifications:

N-glycosylated (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q53RD9

FBLN7 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001121637.1 NP_694946.2

ENSEMBL proteins:

ENSP00000331411 ENSP00000386295 ENSP00000386822 ENSP00000387000 ENSP00000388025

ENSP00000272559

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	Uscn Proteins for FBLN7

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005578	proteinaceous extracellular matrix	IEA	--

FBLN7 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

FBLN7 for domains About GeneDecksing

5/6 InterPro domains/families (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

Graphical View of Domain Structure for InterPro Entry Q53RD9

ProtoNet protein and cluster: Q53RD9

4 Blocks protein families:

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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)

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		hsa-miR-601 hsa-miR-539 hsa-miR-616* hsa-miR-373*
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In Situ Assay
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Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005509	calcium ion binding	IEA	--
GO:0008201	heparin binding	IEA	--

FBLN7 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for FBLN7:

Decreased BPV1 E2 protein expr

Increased HPV18 LCR reporter a

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for FBLN7

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007155	cell adhesion	IEA	--

FBLN7 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FBLN7
Search CenterWatch for drugs/clinical trials and news about FBLN7

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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

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		hsa-miR-601 hsa-miR-539 hsa-miR-616* hsa-miR-373*
		SwitchGear 3'UTR luciferase reporter plasmid: FBLN7 3' UTR sequence

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		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FBLN7

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Additional cDNA 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

24/36 AceView cDNA sequences (see all 36):

BC035784 BM720649 CR620397 AI669723 BF061402 BF439555 CB131234 BC038242

C02224 AK124067 AK094759 BM678869 BQ923452 N35987 NM_153214 BE677799

BE218951 BX451431 BE855992 CB266016 BF432054 BU687225 BM720298 AA922217

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

FBLN7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GATTCTGCCT

About this image

FBLN7 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Endochondral Facial Bones

Bone

Mandibular Fossa

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See FBLN7 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FBLN7

SOURCE GeneReport for Unigene cluster: Hs.437696

SABiosciences 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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for FBLN7 gene from 4/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Fbln7^{1 , 5}	fibulin 7^{1, 5}	86.26(n)¹ 84.97(a)¹		2 (62.63 cM)⁵ 70370¹ NM_024237.4¹ NP_077199.2¹ 128862981⁵
chicken (Gallus gallus)	Aves	LOC421229¹	fibulin-7-like	71.56(n) 67.83(a)		421229 XM_003640886.1 XP_003640934.1
lizard (Anolis carolinensis)	Reptilia	FBLN7⁶	--	66(a)	1 ↔ 1	GL343437.1(176415-200928)
zebrafish (Danio rerio)	Actinopterygii	LOC100000083¹	fibulin-7-like	65.54(n) 66.11(a)		100000083 XM_001918937.3 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)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs72829702^1,2	C,F,	--	112894004(+)	`CCAGAA/GCAAGG`	2	--	us2k¹		1		NA	120
rs11677075^1,2	C,F,A,H,	--	112894026(+)	`AACAGC/TTGGCC`	2	--	us2k¹ tfbs³		7		NA CSA WA EA	365
rs140139314^1,2		--	112894060(+)	`ACACAA/GGGTGG`	2	--	us2k¹		0	--	--	--	--
rs115181079^1,2	F,	--	112894067(+)	`GTGGGA/GTAGGA`	2	--	us2k¹		1		WA	118
rs143772057^1,2		--	112894412(+)	`GGGTCA/CTTTGA`	2	--	us2k¹		0	--	--	--	--
rs187863839^1,2		--	112894465(+)	`TGTCTC/GTACTA`	2	--	us2k¹		0	--	--	--	--
rs189698912^1,2		--	112894521(+)	`CAGCTA/GCTTGG`	2	--	us2k¹		0	--	--	--	--
rs146358639^1,2		--	112894623(+)	`AAGACA/GCCGTC`	2	--	us2k¹		0	--	--	--	--
rs148543203^1,2		--	112894625(+)	`GACGCC/TGTCTC`	2	--	us2k¹		0	--	--	--	--
rs182333726^1,2		--	112894690(+)	`TGGGGA/GAGCAG`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for FBLN7 (112895962 - 112945791 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for FBLN7
1 CNV: 74219
1 Indel: 26409

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FBLN7

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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.)
About This Section

FBLN7 for disorders About MalaCards

FBLN7 for disorders About GeneDecksing

OMIM gene information: 611551 OMIM disorders: --

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)
About This Section

PubMed articles for FBLN7 gene integrated from 9 sources:
(articles sorted by number of sources associating them with FBLN7)

Utopia: connect your pdf to the dynamic
world of online information

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. (2007)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
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. (2009)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)² Hillier L.W....Wilson R.K. (2005)
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. (2004)
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. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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)
About This Section

Entrez Gene: 129804	HGNC: 26740	AceView: FLJ37440	Ensembl:ENSG00000144152	euGenes: HUgn129804
ECgene: FBLN7	H-InvDB: FBLN7

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for FBLN7	Pharmacogenomics, SNPs, Pathways

Intellectual Property for FBLN7 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FBLN7
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	GenScript Custom Purified and Recombinant Proteins Services for FBLN7		GenScript cDNA clones with any tag delivered in your preferred vector for FBLN7
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FBLN7

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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FBLN7 Gene

fibulin 7

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FBLN7 Gene

fibulin 7

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