Human Gene FBLN2 (ENST00000404922.8) from GENCODE V44
  Description: Homo sapiens fibulin 2 (FBLN2), transcript variant 1, mRNA. (from RefSeq NM_001004019)
RefSeq Summary (NM_001004019): This gene encodes an extracellular matrix protein, which belongs to the fibulin family. This protein binds various extracellular ligands and calcium. It may play a role during organ development, in particular, during the differentiation of heart, skeletal and neuronal structures. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000404922.8
Gencode Gene: ENSG00000163520.14
Transcript (Including UTRs)
   Position: hg38 chr3:13,549,125-13,638,404 Size: 89,280 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg38 chr3:13,570,356-13,637,919 Size: 67,564 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:13,549,125-13,638,404)mRNA (may differ from genome)Protein (1231 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FBLN2_HUMAN
DESCRIPTION: RecName: Full=Fibulin-2; Short=FIBL-2; Flags: Precursor;
FUNCTION: Its binding to fibronectin and some other ligands is calcium dependent.
SUBUNIT: Homotrimer; disulfide-linked. Interacts with LAMA2 (By similarity).
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
TISSUE SPECIFICITY: Component of both basement membranes and other connective tissues. Expressed in heart, placenta and ovary.
DEVELOPMENTAL STAGE: Widely expressed during embryonic development. Primarily detected within the neuropithelium, spinal ganglia and peripheral nerves.
PTM: O-glycosylated with core 1 or possibly core 8 glycans. It is unsure if the O-glycosylation is on Thr-347 or Ser-348.
SIMILARITY: Belongs to the fibulin family.
SIMILARITY: Contains 3 anaphylatoxin-like domains.
SIMILARITY: Contains 11 EGF-like domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: FBLN2
Diseases sorted by gene-association score: familial osteochondritis dissecans (10), osteochondritis dissecans (9)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 127.43 RPKM in Heart - Atrial Appendage
Total median expression: 1233.17 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -54.90125-0.439 Picture PostScript Text
3' UTR -162.50485-0.335 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000020 - Anaphylatoxin/fibulin
IPR000742 - EG-like_dom
IPR001881 - EGF-like_Ca-bd
IPR013032 - EGF-like_CS
IPR000152 - EGF-type_Asp/Asn_hydroxyl_site
IPR018097 - EGF_Ca-bd_CS

Pfam Domains:
PF01821 - Anaphylotoxin-like domain
PF07645 - Calcium-binding EGF domain

ModBase Predicted Comparative 3D Structure on P98095
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005201 extracellular matrix structural constituent
GO:0005509 calcium ion binding
GO:0050840 extracellular matrix binding

Biological Process:
GO:0010811 positive regulation of cell-substrate adhesion
GO:0030198 extracellular matrix organization

Cellular Component:
GO:0005576 extracellular region
GO:0031012 extracellular matrix
GO:1903561 extracellular vesicle


-  Descriptions from all associated GenBank mRNAs
  AK304777 - Homo sapiens cDNA FLJ56912 complete cds, highly similar to Fibulin-2 precursor.
LF207289 - JP 2014500723-A/14792: Polycomb-Associated Non-Coding RNAs.
MA442866 - JP 2018138019-A/14792: Polycomb-Associated Non-Coding RNAs.
AK129883 - Homo sapiens cDNA FLJ26373 fis, clone HRT06242, highly similar to Fibulin-2 precursor.
BC051690 - Homo sapiens fibulin 2, mRNA (cDNA clone MGC:51013 IMAGE:5269126), complete cds.
AY130459 - Homo sapiens fibulin 2 (FBLN2) mRNA, complete cds.
X82494 - H.sapiens mRNA for fibulin-2.
AK304827 - Homo sapiens cDNA FLJ56913 complete cds, highly similar to Homo sapiens fibulin 2 (FBLN2), transcript variant 1, mRNA.
KJ896801 - Synthetic construct Homo sapiens clone ccsbBroadEn_06195 FBLN2 gene, encodes complete protein.
AK300913 - Homo sapiens cDNA FLJ50237 complete cds, highly similar to Homo sapiens fibulin 2 (FBLN2), transcript variant 1, mRNA.
AL050095 - Homo sapiens mRNA; cDNA DKFZp586A1519 (from clone DKFZp586A1519).
LF212064 - JP 2014500723-A/19567: Polycomb-Associated Non-Coding RNAs.
MA447641 - JP 2018138019-A/19567: Polycomb-Associated Non-Coding RNAs.
LF364134 - JP 2014500723-A/171637: Polycomb-Associated Non-Coding RNAs.
MA599711 - JP 2018138019-A/171637: Polycomb-Associated Non-Coding RNAs.
JD480150 - Sequence 461174 from Patent EP1572962.
JD539795 - Sequence 520819 from Patent EP1572962.
LF364136 - JP 2014500723-A/171639: Polycomb-Associated Non-Coding RNAs.
MA599713 - JP 2018138019-A/171639: Polycomb-Associated Non-Coding RNAs.
LF364137 - JP 2014500723-A/171640: Polycomb-Associated Non-Coding RNAs.
MA599714 - JP 2018138019-A/171640: Polycomb-Associated Non-Coding RNAs.
LF364138 - JP 2014500723-A/171641: Polycomb-Associated Non-Coding RNAs.
MA599715 - JP 2018138019-A/171641: Polycomb-Associated Non-Coding RNAs.
LF364140 - JP 2014500723-A/171643: Polycomb-Associated Non-Coding RNAs.
MA599717 - JP 2018138019-A/171643: Polycomb-Associated Non-Coding RNAs.
LF364141 - JP 2014500723-A/171644: Polycomb-Associated Non-Coding RNAs.
MA599718 - JP 2018138019-A/171644: Polycomb-Associated Non-Coding RNAs.
LF364144 - JP 2014500723-A/171647: Polycomb-Associated Non-Coding RNAs.
MA599721 - JP 2018138019-A/171647: Polycomb-Associated Non-Coding RNAs.
LF364146 - JP 2014500723-A/171649: Polycomb-Associated Non-Coding RNAs.
MA599723 - JP 2018138019-A/171649: Polycomb-Associated Non-Coding RNAs.
LF364148 - JP 2014500723-A/171651: Polycomb-Associated Non-Coding RNAs.
MA599725 - JP 2018138019-A/171651: Polycomb-Associated Non-Coding RNAs.
LF364149 - JP 2014500723-A/171652: Polycomb-Associated Non-Coding RNAs.
MA599726 - JP 2018138019-A/171652: Polycomb-Associated Non-Coding RNAs.
LF364154 - JP 2014500723-A/171657: Polycomb-Associated Non-Coding RNAs.
MA599731 - JP 2018138019-A/171657: Polycomb-Associated Non-Coding RNAs.
LF364155 - JP 2014500723-A/171658: Polycomb-Associated Non-Coding RNAs.
MA599732 - JP 2018138019-A/171658: Polycomb-Associated Non-Coding RNAs.
LF364158 - JP 2014500723-A/171661: Polycomb-Associated Non-Coding RNAs.
MA599735 - JP 2018138019-A/171661: Polycomb-Associated Non-Coding RNAs.
LF364159 - JP 2014500723-A/171662: Polycomb-Associated Non-Coding RNAs.
MA599736 - JP 2018138019-A/171662: Polycomb-Associated Non-Coding RNAs.
LF364162 - JP 2014500723-A/171665: Polycomb-Associated Non-Coding RNAs.
MA599739 - JP 2018138019-A/171665: Polycomb-Associated Non-Coding RNAs.
LF364163 - JP 2014500723-A/171666: Polycomb-Associated Non-Coding RNAs.
MA599740 - JP 2018138019-A/171666: Polycomb-Associated Non-Coding RNAs.
LF364164 - JP 2014500723-A/171667: Polycomb-Associated Non-Coding RNAs.
MA599741 - JP 2018138019-A/171667: Polycomb-Associated Non-Coding RNAs.
LF364171 - JP 2014500723-A/171674: Polycomb-Associated Non-Coding RNAs.
MA599748 - JP 2018138019-A/171674: Polycomb-Associated Non-Coding RNAs.
LF364173 - JP 2014500723-A/171676: Polycomb-Associated Non-Coding RNAs.
MA599750 - JP 2018138019-A/171676: Polycomb-Associated Non-Coding RNAs.
LF364176 - JP 2014500723-A/171679: Polycomb-Associated Non-Coding RNAs.
MA599753 - JP 2018138019-A/171679: Polycomb-Associated Non-Coding RNAs.
LF364177 - JP 2014500723-A/171680: Polycomb-Associated Non-Coding RNAs.
MA599754 - JP 2018138019-A/171680: Polycomb-Associated Non-Coding RNAs.
LF364178 - JP 2014500723-A/171681: Polycomb-Associated Non-Coding RNAs.
MA599755 - JP 2018138019-A/171681: Polycomb-Associated Non-Coding RNAs.
LF364179 - JP 2014500723-A/171682: Polycomb-Associated Non-Coding RNAs.
MA599756 - JP 2018138019-A/171682: Polycomb-Associated Non-Coding RNAs.
LF364180 - JP 2014500723-A/171683: Polycomb-Associated Non-Coding RNAs.
MA599757 - JP 2018138019-A/171683: Polycomb-Associated Non-Coding RNAs.
LF364181 - JP 2014500723-A/171684: Polycomb-Associated Non-Coding RNAs.
MA599758 - JP 2018138019-A/171684: Polycomb-Associated Non-Coding RNAs.
LF364183 - JP 2014500723-A/171686: Polycomb-Associated Non-Coding RNAs.
MA599760 - JP 2018138019-A/171686: Polycomb-Associated Non-Coding RNAs.
LF364185 - JP 2014500723-A/171688: Polycomb-Associated Non-Coding RNAs.
MA599762 - JP 2018138019-A/171688: Polycomb-Associated Non-Coding RNAs.
LF364187 - JP 2014500723-A/171690: Polycomb-Associated Non-Coding RNAs.
MA599764 - JP 2018138019-A/171690: Polycomb-Associated Non-Coding RNAs.
AL080171 - Homo sapiens mRNA; cDNA DKFZp434F081 (from clone DKFZp434F081).
LF364188 - JP 2014500723-A/171691: Polycomb-Associated Non-Coding RNAs.
MA599765 - JP 2018138019-A/171691: Polycomb-Associated Non-Coding RNAs.
LF364189 - JP 2014500723-A/171692: Polycomb-Associated Non-Coding RNAs.
MA599766 - JP 2018138019-A/171692: Polycomb-Associated Non-Coding RNAs.
JD265558 - Sequence 246582 from Patent EP1572962.
JD427472 - Sequence 408496 from Patent EP1572962.
LF364190 - JP 2014500723-A/171693: Polycomb-Associated Non-Coding RNAs.
MA599767 - JP 2018138019-A/171693: Polycomb-Associated Non-Coding RNAs.
JD382413 - Sequence 363437 from Patent EP1572962.
JD438706 - Sequence 419730 from Patent EP1572962.
LF364191 - JP 2014500723-A/171694: Polycomb-Associated Non-Coding RNAs.
MA599768 - JP 2018138019-A/171694: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P98095 (Reactome details) participates in the following event(s):

R-HSA-1592387 Fibulin binds elastic fibres
R-HSA-2537665 Fibulin-1 and -2 bind fibronectin
R-HSA-2328048 Emilin is found in elastic fibres
R-HSA-2161282 Elastic fibres bind associated proteins
R-HSA-2129379 Molecules associated with elastic fibres
R-HSA-1566948 Elastic fibre formation
R-HSA-1474244 Extracellular matrix organization

-  Other Names for This Gene
  Alternate Gene Symbols: B7Z9C5, ENST00000404922.1, ENST00000404922.2, ENST00000404922.3, ENST00000404922.4, ENST00000404922.5, ENST00000404922.6, ENST00000404922.7, FBLN2_HUMAN, NM_001004019, P98095, Q8IUI0, Q8IUI1, uc011ava.1, uc011ava.2, uc011ava.3, uc011ava.4
UCSC ID: ENST00000404922.8
RefSeq Accession: NM_001004019
Protein: P98095 (aka FBLN2_HUMAN or FBL2_HUMAN)
CCDS: CCDS46761.1, CCDS46762.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.