FBLN2 (fibulin 2)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2199
Gene name Gene Name - the full gene name approved by the HGNC.
Fibulin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FBLN2
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p25.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(90)
miRTarBase ID miRNA Experiments Reference
MIRT002753 hsa-miR-1-3p Microarray 15685193
MIRT018315 hsa-miR-335-5p Microarray 18185580
MIRT002753 hsa-miR-1-3p Microarray;Other 15685193
MIRT527285 hsa-miR-548ac PAR-CLIP 22012620
MIRT527284 hsa-miR-548bb-3p PAR-CLIP 22012620
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(22)
GO ID Ontology Definition Evidence Reference
GO:0005201 Function Extracellular matrix structural constituent IBA
GO:0005201 Function Extracellular matrix structural constituent RCA 25037231
GO:0005201 Function Extracellular matrix structural constituent TAS 7806230
GO:0005509 Function Calcium ion binding IEA
GO:0005509 Function Calcium ion binding TAS 7806230
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
135821 3601 ENSG00000163520
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P98095
Protein name Fibulin-2 (FIBL-2)
Protein function Its binding to fibronectin and some other ligands is calcium dependent. May act as an adapter that mediates the interaction between FBN1 and ELN (PubMed:17255108).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01821 ANATO 445 → 480 Anaphylotoxin-like domain Domain
PF14670 FXa_inhibition 608 → 644 Domain
PF07645 EGF_CA 719 → 762 Calcium-binding EGF domain Domain
PF07645 EGF_CA 764 → 808 Calcium-binding EGF domain Domain
PF07645 EGF_CA 810 → 856 Calcium-binding EGF domain Domain
PF07645 EGF_CA 858 → 899 Calcium-binding EGF domain Domain
PF12662 cEGF 923 → 946 Complement Clr-like EGF-like Domain
PF12662 cEGF 962 → 985 Complement Clr-like EGF-like Domain
PF07645 EGF_CA 1025 → 1073 Calcium-binding EGF domain Domain
Tissue specificity TISSUE SPECIFICITY: Component of both basement membranes and other connective tissues. Expressed in heart, placenta and ovary.
Sequence 
MVLLWEPAGAWLALGLALALGPSVAAAAPRQDCTGVECPPLENCIEEALEPGACCATCVQ
QGCACEGYQYYDCLQGGFVRGRVPAGQSYFVDFGSTECSCPPGGGKISCQFMLCPELPPN
CIEAVVVADSCPQCGQVGCVHAGHKYAAGHTVHLPPCRACHCPDAGGELICYQLPGCHGN
FSDAEEGDPERHYEDPYSYDQEVAEVEAATALGGEVQAGAVQAGAGGPPAALGGGSQPLS
TIQAPPWPAVLPRPTAAAALGPPAPVQAKARRVTEDSEEEEEEEEEREEMAVTEQLAAGG
HRGLDGLPTTAPAGPSLPIQEERAEAGARAEAGARPEENLILDAQATSRSTGPEGVTHAP
SLGKAALVPTQAVPGSPRDPVKPSPHNILSTSLPDAAWIPPTREVPRKPQVLPHSHVEED
TDPNSVHSIPRSSPEGSTKDLIETCCAAGQQWAIDNDECLEIPESGTEDNVCRTAQRHCC
VSYLQEKSCMAGVLGAKEGETCGAEDNDSCGISLYKQCCDCCGLGLRVRAEGQSCESNPN
LGYPCNHVMLSCCEGEEPLIVPEVRRPPEPAAAPRRVSEAEMAGREALSLGTEAELPNSL
PGDDQDECLLLPGELCQHLCINTVGSYHCACFPGFSLQDDGRTCRPEGHPPQPEAPQEPA
LKSEFSQVASNTIPLPLPQPNTCKDNGPCKQVCSTVGGSAICSCFPGYAIMADGVSCEDI
NECVTDLHTCSRGEHCVNTLGSFHCYKALTCEPGYALKDGECEDVDECAMGTHTCQPGFL
CQNTKGSFYCQARQRCMDGFLQDPEGNCVDINECTSLSEPCRPGFSCINTVGSYTCQRNP
LICARGYHASDDGTKCVDVNECETGVHRCGEGQVCHNLPGSYRCDCKAGFQRDAFGRGCI
DVNECWASPGRLCQHTCENTLGSYRCSCASGFLLAADGKRCEDVNECEAQRCSQECANIY
GSYQCYCRQGYQLAEDGHTCTDIDECAQGAGILCTFRCLNVPGSYQCACPEQGYTMTANG
RSCKDVDECALGTHNCSEAETCHNIQGSFRCLRFECPPNYVQVSKTKCERTTCHDFLECQ
NSPARITHYQLNFQTGLLVPAHIFRIGPAPAFTGDTIALNIIKGNEEGYFGTRRLNAYTG
VVYLQRAVLEPRDFALDVEMKLWRQGSVTTFLAKMHIFFTTFAL
Sequence length 1184
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Cytoskeleton in muscle cells   Molecules associated with elastic fibres
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma N/A N/A GWAS
Congenital Heart Disease congenital heart disease N/A N/A GenCC
Pulmonary arterial hypertension pulmonary arterial hypertension N/A N/A GenCC
Show/Hide Text Mining Associations (33)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenomatous Polyposis Coli Associate 31663907
Astrocytoma Stimulate 33429944
Atherosclerosis Associate 27573188
Atrioventricular Septal Defect Associate 23040494
Breast Neoplasms Inhibit 17456760
Breast Neoplasms Associate 20205715, 28099917, 33836007
Carcinogenesis Associate 21741351
Carcinogenesis Stimulate 33890711
Carcinoma Hepatocellular Associate 36768989
Carcinoma Non Small Cell Lung Associate 34769264