FBLN2 (fibulin 2)

Gene

• Entrez ID: 2199
• Gene name: Fibulin 2
• Gene symbol: FBLN2
• Synonyms (NCBI Gene): -
• Chromosome: 3
• Chromosome location: 3p25.1
• Summary: 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

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
MIRT527283	hsa-miR-548d-3p	PAR-CLIP	22012620
MIRT527282	hsa-miR-548h-3p	PAR-CLIP	22012620
MIRT527281	hsa-miR-548z	PAR-CLIP	22012620
MIRT527280	hsa-miR-548ae-3p	PAR-CLIP	22012620
MIRT527279	hsa-miR-548ah-3p	PAR-CLIP	22012620
MIRT527278	hsa-miR-548aj-3p	PAR-CLIP	22012620
MIRT527277	hsa-miR-548am-3p	PAR-CLIP	22012620
MIRT527276	hsa-miR-548aq-3p	PAR-CLIP	22012620
MIRT527275	hsa-miR-548j-3p	PAR-CLIP	22012620
MIRT527274	hsa-miR-548x-3p	PAR-CLIP	22012620
MIRT527273	hsa-miR-548aa	PAR-CLIP	22012620
MIRT527272	hsa-miR-548ap-3p	PAR-CLIP	22012620
MIRT527271	hsa-miR-548t-3p	PAR-CLIP	22012620
MIRT527270	hsa-miR-497-3p	PAR-CLIP	22012620
MIRT527269	hsa-miR-548at-5p	PAR-CLIP	22012620
MIRT527268	hsa-miR-32-3p	PAR-CLIP	22012620
MIRT527267	hsa-miR-4775	PAR-CLIP	22012620
MIRT527266	hsa-miR-520d-5p	PAR-CLIP	22012620
MIRT527265	hsa-miR-524-5p	PAR-CLIP	22012620
MIRT527285	hsa-miR-548ac	PAR-CLIP	22012620
MIRT527284	hsa-miR-548bb-3p	PAR-CLIP	22012620
MIRT527283	hsa-miR-548d-3p	PAR-CLIP	22012620
MIRT527282	hsa-miR-548h-3p	PAR-CLIP	22012620
MIRT527281	hsa-miR-548z	PAR-CLIP	22012620
MIRT527280	hsa-miR-548ae-3p	PAR-CLIP	22012620
MIRT527279	hsa-miR-548ah-3p	PAR-CLIP	22012620
MIRT527278	hsa-miR-548aj-3p	PAR-CLIP	22012620
MIRT527277	hsa-miR-548am-3p	PAR-CLIP	22012620
MIRT527276	hsa-miR-548aq-3p	PAR-CLIP	22012620
MIRT527275	hsa-miR-548j-3p	PAR-CLIP	22012620
MIRT527274	hsa-miR-548x-3p	PAR-CLIP	22012620
MIRT527273	hsa-miR-548aa	PAR-CLIP	22012620
MIRT527272	hsa-miR-548ap-3p	PAR-CLIP	22012620
MIRT527271	hsa-miR-548t-3p	PAR-CLIP	22012620
MIRT527270	hsa-miR-497-3p	PAR-CLIP	22012620
MIRT527269	hsa-miR-548at-5p	PAR-CLIP	22012620
MIRT527268	hsa-miR-32-3p	PAR-CLIP	22012620
MIRT527267	hsa-miR-4775	PAR-CLIP	22012620
MIRT527266	hsa-miR-520d-5p	PAR-CLIP	22012620
MIRT527265	hsa-miR-524-5p	PAR-CLIP	22012620
MIRT990052	hsa-miR-1	CLIP-seq
MIRT990053	hsa-miR-1204	CLIP-seq
MIRT990054	hsa-miR-206	CLIP-seq
MIRT990055	hsa-miR-2110	CLIP-seq
MIRT990056	hsa-miR-3136-3p	CLIP-seq
MIRT990057	hsa-miR-3144-5p	CLIP-seq
MIRT990058	hsa-miR-3150a-3p	CLIP-seq
MIRT990059	hsa-miR-3191	CLIP-seq
MIRT990060	hsa-miR-3673	CLIP-seq
MIRT990061	hsa-miR-4258	CLIP-seq
MIRT990062	hsa-miR-4260	CLIP-seq
MIRT990063	hsa-miR-4652-5p	CLIP-seq
MIRT990064	hsa-miR-4694-3p	CLIP-seq
MIRT990065	hsa-miR-505	CLIP-seq
MIRT990066	hsa-miR-613	CLIP-seq
MIRT990067	hsa-miR-663b	CLIP-seq
MIRT990068	hsa-miR-3130-5p	CLIP-seq
MIRT990069	hsa-miR-3662	CLIP-seq
MIRT990070	hsa-miR-4482	CLIP-seq
MIRT990071	hsa-miR-548ae	CLIP-seq
MIRT990072	hsa-miR-548aj	CLIP-seq
MIRT990073	hsa-miR-548am	CLIP-seq
MIRT990074	hsa-miR-548x	CLIP-seq
MIRT990075	hsa-miR-128	CLIP-seq
MIRT990076	hsa-miR-186	CLIP-seq
MIRT990077	hsa-miR-27a	CLIP-seq
MIRT990078	hsa-miR-27b	CLIP-seq
MIRT990079	hsa-miR-34b	CLIP-seq
MIRT2531209	hsa-miR-1539	CLIP-seq
MIRT2531210	hsa-miR-1976	CLIP-seq
MIRT2531211	hsa-miR-3193	CLIP-seq
MIRT2531212	hsa-miR-4691-5p	CLIP-seq
MIRT2531213	hsa-miR-4706	CLIP-seq
MIRT2531214	hsa-miR-4734	CLIP-seq
MIRT2531215	hsa-miR-4749-5p	CLIP-seq
MIRT2531216	hsa-miR-744	CLIP-seq
MIRT2680820	hsa-miR-198	CLIP-seq
MIRT2680821	hsa-miR-2467-3p	CLIP-seq
MIRT2531213	hsa-miR-4706	CLIP-seq
MIRT2531214	hsa-miR-4734	CLIP-seq
MIRT2531215	hsa-miR-4749-5p	CLIP-seq
MIRT2680822	hsa-miR-4779	CLIP-seq
MIRT2680823	hsa-miR-486-3p	CLIP-seq
MIRT2680824	hsa-miR-615-5p	CLIP-seq
MIRT2531216	hsa-miR-744	CLIP-seq

Gene ontology (GO)

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
GO:0005515	Function	Protein binding	IPI	19349279, 32296183
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IBA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0010811	Process	Positive regulation of cell-substrate adhesion	IBA
GO:0010811	Process	Positive regulation of cell-substrate adhesion	IEA
GO:0030023	Function	Extracellular matrix constituent conferring elasticity	ISS
GO:0030023	Function	Extracellular matrix constituent conferring elasticity	RCA	27559042, 28327460
GO:0031012	Component	Extracellular matrix	HDA	23658023, 25037231, 27559042, 28327460
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	ISS	22261194
GO:0031012	Component	Extracellular matrix	TAS	7806230
GO:0050840	Function	Extracellular matrix binding	IBA
GO:0050840	Function	Extracellular matrix binding	IEA
GO:1903561	Component	Extracellular vesicle	HDA	24769233

Other IDs

• MIM: 135821
• HGNC: 3601
• e!Ensembl: ENSG00000163520

Protein

• 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

Pathways

KEGG:

Cytoskeleton in muscle cells

Reactome:

Molecules associated with elastic fibres

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EMPHYSEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY ARTERIAL HYPERTENSION	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	23785517		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	9887386		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	27573188		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	33429944	Stimulate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	27573188		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	27573188	Associate	★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	Pubtator	23040494	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17456760, 24457941, 28099917, 28928811, 30237579		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17456760	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20205715, 28099917, 33836007	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	21741351	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33890711	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	24457941		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36768989	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31069614		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	34769264	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	25298166	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	33003281	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	19430199		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	17892325		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28928808		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	17892325		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33890711	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	30118321		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	33305541	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	23040494	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	34716287	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	10922384	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	22912785	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	22912785	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	22912785		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	37481543	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30118321		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	31732565	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19430199	Inhibit	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	34769264	Inhibit	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17456760, 24457941, 28099917, 28928811, 30237579		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31069614		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	22105367		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31452758		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17456760, 28099917, 28928811		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	28099917		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan syndrome	Pubtator	8946175	Associate	★☆☆☆☆ Found in Text Mining only
Marfan Syndrome type 2	Marfan Syndrome	BEFREE	8946175		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	33429944	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30118321		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	21743496		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20083228, 21743496, 23785517, 24457941, 25578962, 30346835, 31069614, 31452758		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	22105367		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	33971972	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Detachment	Retinal Detachment	BEFREE	24692557		★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	21741351	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31452758		★☆☆☆☆ Found in Text Mining only