Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10516
Gene name	Fibulin 5
Gene symbol	FBLN5
Synonyms (NCBI Gene)	ADCL2ARCL1AARMD3CMT1HDANCEEVECFIBL-5HNARMDUP50
Chromosome	14
Chromosome location	14q32.12
Summary	The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is pr

Show/Hide all (16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28939072	A>G	Pathogenic	Coding sequence variant, missense variant
rs28939370	A>G	Pathogenic	Coding sequence variant, missense variant
rs61734479	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs80338765	C>T	Pathogenic, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs80338766	A>G	Pathogenic	Missense variant, coding sequence variant
rs80338767	C>A	Pathogenic	Stop gained, coding sequence variant
rs121434299	C>G	Pathogenic	Missense variant, coding sequence variant
rs121434300	C>T	Pathogenic	Missense variant, coding sequence variant
rs121434301	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs121434302	C>T	Pathogenic	Missense variant, coding sequence variant
rs121434303	C>T	Pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant
rs144288844	C>G,T	Uncertain-significance, pathogenic, likely-benign	Coding sequence variant, missense variant
rs200178859	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs746630839	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs864309526	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1595286986	CT>-	Pathogenic	Frameshift variant, coding sequence variant

124

Show/Hide all (124)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006770	hsa-miR-200c-3p	Luciferase reporter assay	22685266
MIRT006770	hsa-miR-200c-3p	Luciferase reporter assayWestern blot	22569286
MIRT018518	hsa-miR-335-5p	Microarray	18185580
MIRT029864	hsa-miR-26b-5p	Microarray	19088304
MIRT460762	hsa-miR-3120-3p	PAR-CLIP	23592263
MIRT460761	hsa-miR-4433b-3p	PAR-CLIP	23592263
MIRT460760	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT460759	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT460758	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT460756	hsa-miR-3185	PAR-CLIP	23592263
MIRT460757	hsa-miR-2277-3p	PAR-CLIP	23592263
MIRT460755	hsa-miR-6770-5p	PAR-CLIP	23592263
MIRT460754	hsa-miR-7854-3p	PAR-CLIP	23592263
MIRT460753	hsa-miR-7-5p	PAR-CLIP	23592263
MIRT460751	hsa-miR-6077	PAR-CLIP	23592263
MIRT460752	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT460750	hsa-miR-3190-3p	PAR-CLIP	23592263
MIRT460762	hsa-miR-3120-3p	PAR-CLIP	23592263
MIRT460761	hsa-miR-4433b-3p	PAR-CLIP	23592263
MIRT460760	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT460759	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT460758	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT460756	hsa-miR-3185	PAR-CLIP	23592263
MIRT460757	hsa-miR-2277-3p	PAR-CLIP	23592263
MIRT460755	hsa-miR-6770-5p	PAR-CLIP	23592263
MIRT460754	hsa-miR-7854-3p	PAR-CLIP	23592263
MIRT460753	hsa-miR-7-5p	PAR-CLIP	23592263
MIRT460751	hsa-miR-6077	PAR-CLIP	23592263
MIRT460752	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT460750	hsa-miR-3190-3p	PAR-CLIP	23592263
MIRT990080	hsa-miR-3122	CLIP-seq
MIRT990081	hsa-miR-3913-5p	CLIP-seq
MIRT990082	hsa-miR-4463	CLIP-seq
MIRT990083	hsa-miR-4747-5p	CLIP-seq
MIRT990084	hsa-miR-629	CLIP-seq
MIRT990085	hsa-miR-7	CLIP-seq
MIRT1993395	hsa-miR-1976	CLIP-seq
MIRT1993396	hsa-miR-4279	CLIP-seq
MIRT1993397	hsa-miR-4421	CLIP-seq
MIRT1993398	hsa-miR-4712-3p	CLIP-seq
MIRT1993399	hsa-miR-4780	CLIP-seq
MIRT1993400	hsa-miR-623	CLIP-seq
MIRT2227295	hsa-miR-128	CLIP-seq
MIRT1993395	hsa-miR-1976	CLIP-seq
MIRT1993396	hsa-miR-4279	CLIP-seq
MIRT1993397	hsa-miR-4421	CLIP-seq
MIRT1993399	hsa-miR-4780	CLIP-seq
MIRT1993400	hsa-miR-623	CLIP-seq
MIRT2531217	hsa-miR-103b	CLIP-seq
MIRT2531218	hsa-miR-1245b-5p	CLIP-seq
MIRT2531219	hsa-miR-1273g	CLIP-seq
MIRT2531220	hsa-miR-197	CLIP-seq
MIRT2531221	hsa-miR-2052	CLIP-seq
MIRT2531222	hsa-miR-3142	CLIP-seq
MIRT2531223	hsa-miR-3177-5p	CLIP-seq
MIRT2531224	hsa-miR-3614-3p	CLIP-seq
MIRT2531225	hsa-miR-3622b-5p	CLIP-seq
MIRT2531226	hsa-miR-3647-3p	CLIP-seq
MIRT2531227	hsa-miR-3681	CLIP-seq
MIRT2531228	hsa-miR-370	CLIP-seq
MIRT2531229	hsa-miR-376c	CLIP-seq
MIRT2531230	hsa-miR-3908	CLIP-seq
MIRT2531231	hsa-miR-4493	CLIP-seq
MIRT2531232	hsa-miR-4645-5p	CLIP-seq
MIRT2531233	hsa-miR-4661-5p	CLIP-seq
MIRT2531234	hsa-miR-4673	CLIP-seq
MIRT2531235	hsa-miR-4684-5p	CLIP-seq
MIRT2531236	hsa-miR-4738-3p	CLIP-seq
MIRT2531237	hsa-miR-494	CLIP-seq
MIRT2531238	hsa-miR-548ac	CLIP-seq
MIRT2531239	hsa-miR-548ae	CLIP-seq
MIRT2531240	hsa-miR-548aj	CLIP-seq
MIRT2531241	hsa-miR-548am	CLIP-seq
MIRT2531242	hsa-miR-548d-3p	CLIP-seq
MIRT2531243	hsa-miR-548g	CLIP-seq
MIRT2531244	hsa-miR-548x	CLIP-seq
MIRT2531245	hsa-miR-548z	CLIP-seq
MIRT2531246	hsa-miR-563	CLIP-seq
MIRT2531247	hsa-miR-584	CLIP-seq
MIRT2531248	hsa-miR-939	CLIP-seq
MIRT2531249	hsa-miR-942	CLIP-seq
MIRT2531217	hsa-miR-103b	CLIP-seq
MIRT2531218	hsa-miR-1245b-5p	CLIP-seq
MIRT2531219	hsa-miR-1273g	CLIP-seq
MIRT2680825	hsa-miR-1915	CLIP-seq
MIRT2531220	hsa-miR-197	CLIP-seq
MIRT2680826	hsa-miR-200b	CLIP-seq
MIRT2680827	hsa-miR-200c	CLIP-seq
MIRT2531221	hsa-miR-2052	CLIP-seq
MIRT2531222	hsa-miR-3142	CLIP-seq
MIRT2680828	hsa-miR-3161	CLIP-seq
MIRT2531223	hsa-miR-3177-5p	CLIP-seq
MIRT2531224	hsa-miR-3614-3p	CLIP-seq
MIRT2531225	hsa-miR-3622b-5p	CLIP-seq
MIRT2531226	hsa-miR-3647-3p	CLIP-seq
MIRT2531227	hsa-miR-3681	CLIP-seq
MIRT2680829	hsa-miR-369-3p	CLIP-seq
MIRT2531228	hsa-miR-370	CLIP-seq
MIRT2531229	hsa-miR-376c	CLIP-seq
MIRT2531230	hsa-miR-3908	CLIP-seq
MIRT2680830	hsa-miR-429	CLIP-seq
MIRT2531231	hsa-miR-4493	CLIP-seq
MIRT2531232	hsa-miR-4645-5p	CLIP-seq
MIRT2531233	hsa-miR-4661-5p	CLIP-seq
MIRT2531234	hsa-miR-4673	CLIP-seq
MIRT2531235	hsa-miR-4684-5p	CLIP-seq
MIRT2680831	hsa-miR-4726-3p	CLIP-seq
MIRT2531236	hsa-miR-4738-3p	CLIP-seq
MIRT2531237	hsa-miR-494	CLIP-seq
MIRT2531238	hsa-miR-548ac	CLIP-seq
MIRT2531239	hsa-miR-548ae	CLIP-seq
MIRT2531240	hsa-miR-548aj	CLIP-seq
MIRT2531241	hsa-miR-548am	CLIP-seq
MIRT2531242	hsa-miR-548d-3p	CLIP-seq
MIRT2531243	hsa-miR-548g	CLIP-seq
MIRT2531244	hsa-miR-548x	CLIP-seq
MIRT2531245	hsa-miR-548z	CLIP-seq
MIRT2531246	hsa-miR-563	CLIP-seq
MIRT2531247	hsa-miR-584	CLIP-seq
MIRT2680832	hsa-miR-592	CLIP-seq
MIRT2680833	hsa-miR-597	CLIP-seq
MIRT2680834	hsa-miR-892a	CLIP-seq
MIRT2531248	hsa-miR-939	CLIP-seq
MIRT2531249	hsa-miR-942	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0005178	Function	Integrin binding	IEA
GO:0005178	Function	Integrin binding	ISS
GO:0005178	Function	Integrin binding	TAS	10428823
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	15528465, 15790312, 17035250, 17581631, 19349279, 19570982, 21653829, 25118846, 25910212, 32296183, 32814053, 33961781
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005615	Component	Extracellular space	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007160	Process	Cell-matrix adhesion	TAS	10428823
GO:0016525	Process	Negative regulation of angiogenesis	IEA
GO:0030023	Function	Extracellular matrix constituent conferring elasticity	RCA	20551380, 25037231, 28675934
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28675934
GO:0031012	Component	Extracellular matrix	IDA	17035250
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	TAS	10428823
GO:0033690	Process	Positive regulation of osteoblast proliferation	IEA
GO:0034394	Process	Protein localization to cell surface	IEA
GO:0034394	Process	Protein localization to cell surface	ISS
GO:0042803	Function	Protein homodimerization activity	IDA	19617354, 20007835
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046903	Process	Secretion	IDA	20599547
GO:0048251	Process	Elastic fiber assembly	IBA
GO:0048251	Process	Elastic fiber assembly	IEA
GO:0048251	Process	Elastic fiber assembly	IMP	17035250
GO:0048251	Process	Elastic fiber assembly	ISS
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0071953	Component	Elastic fiber	IEA
GO:0071953	Component	Elastic fiber	ISS
GO:0098867	Process	Intramembranous bone growth	IEA
GO:2000121	Process	Regulation of removal of superoxide radicals	IEA
GO:2000121	Process	Regulation of removal of superoxide radicals	ISS

MIM	HGNC	e!Ensembl
604580	3602	ENSG00000140092

Q9UBX5

Protein name

Fibulin-5 (FIBL-5) (Developmental arteries and neural crest EGF-like protein) (Dance) (Urine p50 protein) (UP50)

Protein function

Essential for elastic fiber formation, is involved in the assembly of continuous elastin (ELN) polymer and promotes the interaction of microfibrils and ELN (PubMed:18185537). Stabilizes and organizes elastic fibers in the skin, lung and vasculat

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07645	EGF_CA	42 → 84	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	127 → 166	Calcium-binding EGF domain	Domain
PF12662	cEGF	187 → 210	Complement Clr-like EGF-like	Domain
PF12662	cEGF	268 → 291	Complement Clr-like EGF-like	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in skin fibroblasts (at protein level) (PubMed:17035250). Expressed predominantly in heart, ovary, and colon but also in kidney, pancreas, testis, lung and placenta. Not detectable in brain, liver, thymus, prostate, or periph

Sequence

MPGIKRILTVTILALCLPSPGNAQAQCTNGFDLDRQSGQCLDIDECRTIPEACRGDMMCV
NQNGGYLCIPRTNPVYRGPYSNPYSTPYSGPYPAAAPPLSAPNYPTISRPLICRFGYQMD
ESNQCVDVDECATDSHQCNPTQICINTEGGYTCSCTDGYWLLEGQCLDIDECRYGYCQQL
CANVPGSYSCTCNPGFTLNEDGRSCQDVNECATENPCVQTCVNTYGSFICRCDPGYELEE
DGVHCSDMDECSFSEFLCQHECVNQPGTYFCSCPPGYILLDDNRSCQDINECEHRNHTCN
LQQTCYNLQGGFKCIDPIRCEEPYLRISDNRCMCPAENPGCRDQPFTILYRDMDVVSGRS
VPADIFQMQATTRYPGAYYIFQIKSGNEGREFYMRQTGPISATLVMTRPIKGPREIQLDL
EMITVNTVINFRGSSVIRLRIYVSQYPF

Sequence length

448

Interactions

View interactions

	Reactome
			Elastic fibre formation Molecules associated with elastic fibres

247

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Charcot-Marie-Tooth disease, demyelinating, IIA 1H	Pathogenic; Likely pathogenic	rs1172268284, rs864309526, rs2056032001	RCV001843339 RCV001843302 RCV003990457
Cutis laxa, autosomal dominant	Likely pathogenic	rs2139960687	RCV003447324
Cutis laxa, autosomal dominant 2	Pathogenic	rs1595286986	RCV000850551
Cutis laxa, autosomal recessive, type 1A	Pathogenic	rs1595286986, rs746506432	RCV000850551 RCV001290131
Hereditary sensorimotor neuropathy with hyperelastic skin	Likely pathogenic; Pathogenic	rs864309526	RCV003447124
Macular degeneration, age-related, 3	Pathogenic	rs1595286986	RCV000850551

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Age related macular degeneration 1	Uncertain significance	rs758120969	RCV005429105
Age-related macular degeneration	Uncertain significance; Conflicting classifications of pathogenicity	rs141200859, rs121434299, rs121434300, rs121434301, rs28939072, rs28939073, rs121434302, rs121434303, rs2542900102, rs149396611	RCV003447321 RCV003447069 RCV003447070 RCV003447071 RCV003447072 RCV003447073 RCV003447074 RCV003447075 RCV003447396 RCV003447149
Autosomal recessive cutis laxa type 1	Uncertain significance	rs758120969	RCV005429105
Cholangiocarcinoma	Benign	rs8014548	RCV005925007
Cutis laxa	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs74071605, rs74071606, rs2430347, rs28939073, rs144288844, rs61734479, rs147699855, rs200178859, rs536827304, rs886050888, rs369441736, rs77357345, rs886050887, rs115237925, rs79375113 View all (39 more)	RCV000335950 RCV000351829 RCV000403489 RCV001119789 RCV001121879 RCV000405354 RCV000261122 RCV000264837 RCV000298242 RCV000386387 RCV000368378 RCV000381559 RCV000282805 RCV000395898 RCV000273686 RCV000325555 RCV000307466 RCV000308840 RCV000348011 RCV000352947 RCV000291673 RCV000404509 RCV000342425 RCV000384748 RCV000380081 RCV000371742 RCV000362359 RCV000280970 RCV000387952 RCV000285594 RCV000355089 RCV000300990 RCV000330737 RCV000389826 RCV000346873 RCV000369502 RCV000318082 RCV000333368 RCV000383684 RCV000298567 RCV000375520 RCV001119684 RCV001121669 RCV001116794 RCV001116796 RCV001116798 RCV001118252 RCV001121773 RCV001115208 RCV001118353 RCV001119890 RCV001119892 RCV001115305 RCV001121880
Cutis Laxa, Dominant/Recessive	Conflicting classifications of pathogenicity; Likely benign	rs145108467, rs556678788, rs184393277	RCV000361075 RCV000311405 RCV000394112
FBLN5-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs774458799, rs976720995, rs757825263, rs771180076, rs1127849, rs1566828609, rs762522472, rs765949465, rs148209555, rs978772167, rs121434299, rs61734479, rs147699855, rs200178859, rs778085223 View all (6 more)	RCV004751999 RCV004752009 RCV004752068 RCV003960874 RCV003895774 RCV003410068 RCV004750818 RCV004750829 RCV003963352 RCV003961139 RCV004751203 RCV003917823 RCV003907790 RCV003909996 RCV003412050 RCV003946663 RCV003893443 RCV003970220 RCV003945502 RCV003938146 RCV003928720
Gastric cancer	Benign	rs2498843	RCV005924989
Macular degeneration	Conflicting classifications of pathogenicity; Likely benign	rs145108467, rs556678788, rs184393277	RCV000303754 RCV000397499 RCV000298039
Optic atrophy	Conflicting classifications of pathogenicity; Uncertain significance	rs144288844, rs377360782	RCV004816352 RCV004813787
Ovarian serous cystadenocarcinoma	Benign	rs8014548	RCV005925005
Peripheral axonal neuropathy	Uncertain significance	rs777077185	RCV001007475
Proximal spinal muscular atrophy	Uncertain significance	rs137901671	RCV000664245
Retinal dystrophy	Conflicting classifications of pathogenicity; Uncertain significance	rs143928468, rs144288844, rs145108467, rs1172692991	RCV004815536 RCV004816351 RCV004816553 RCV001074926
Sarcoma	Benign	rs8014548	RCV005925004
See cases	Uncertain significance	rs28939073	RCV002251883
Thymoma	Benign	rs8014548	RCV005925006
Tip-toe gait	Conflicting classifications of pathogenicity	rs759434738	RCV001837614
Uterine corpus endometrial carcinoma	Benign	rs8014548	RCV005925008

Show/Hide Text Mining Associations (55)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Atherosclerosis	Associate	19948975
Basal Laminar Drusen	Associate	27007659
Blindness	Associate	19617354
Breast Neoplasms	Associate	36531485, 37056938
Carcinogenesis	Inhibit	32901854
Carcinoma Hepatocellular	Inhibit	25494879, 26494967
Carcinoma Hepatocellular	Associate	33658475
Carcinoma Non Small Cell Lung	Associate	30305430
Cone Rod Dystrophies	Associate	29555955
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	19617354
Crohn Disease	Associate	31852111
Cutis Laxa	Associate	19617354, 20007835, 22872678, 31792352, 33509220
Cutis Laxa Autosomal Recessive Type I	Associate	15955459
Diabetic Nephropathies	Associate	33887734
Dissection Thoracic Aorta	Associate	29669321
Diverticulum	Associate	33509220
Doyne honeycomb retinal dystrophy	Associate	25481286
Drug Related Side Effects and Adverse Reactions	Associate	33509220
Dystonic Disorders	Associate	20007835
Exfoliation Syndrome	Associate	31358954, 36794549
Eye Diseases	Associate	31358954
Fibrosis	Associate	30946557, 34508113
Fractures Spontaneous	Associate	22790990
Glioma	Associate	25684523
Glomerulonephritis IGA	Inhibit	29523019
Glycogen Storage Disease Type II	Associate	20007835
Hernia Inguinal	Associate	33509220
Hypersensitivity Immediate	Associate	22829427
Inflammation	Inhibit	32495858
Leiomyoma	Associate	17716379, 17718906, 22685266
Leukemic Infiltration	Inhibit	25494879
Lung Neoplasms	Associate	30305430
Lymphatic Metastasis	Inhibit	25494879
Lymphoma	Inhibit	12716467
Lymphoma	Associate	31852111
Lymphoma Large B Cell Diffuse	Associate	12716467
Macular Degeneration	Associate	15269314, 17109857, 19617354, 20007835, 22872678, 31792352
Mouth Diseases	Associate	37775701
Nasopharyngeal Carcinoma	Associate	24386352
Neoplasm Metastasis	Associate	24386352, 32901854
Neoplasm Metastasis	Inhibit	25684523, 26494967
Neoplasms	Associate	12716467
Neoplasms	Inhibit	25494879, 25684523
Osteoarthritis	Inhibit	32495858
Ovarian Neoplasms	Inhibit	32901854
Pneumothorax	Associate	22790990
Pulmonary Emphysema	Associate	22829427, 33509220
Pyloric Stenosis	Associate	33509220
Retinal Drusen	Associate	15269314, 17109857
Rufous oculocutaneous albinism	Inhibit	25684523
Skin Diseases	Associate	33509220
Splenic Neoplasms	Associate	33522209
Stomach Neoplasms	Associate	27941907
Syndrome	Inhibit	33522209
Tuberculosis	Associate	31852111

FBLN5 (fibulin 5)