FBN3 (fibrillin 3)

Gene

• Entrez ID: 84467
• Gene name: Fibrillin 3
• Gene symbol: FBN3
• Synonyms (NCBI Gene): -
• Chromosome: 19
• Chromosome location: 19p13.2
• Summary: This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs141592778	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021804	hsa-miR-132-3p	Microarray	17612493
MIRT046952	hsa-miR-221-3p	CLASH	23622248
MIRT990132	hsa-miR-323b-5p	CLIP-seq
MIRT990133	hsa-miR-4440	CLIP-seq
MIRT990134	hsa-miR-544b	CLIP-seq
MIRT2227311	hsa-miR-128	CLIP-seq
MIRT2227312	hsa-miR-148a	CLIP-seq
MIRT2227313	hsa-miR-148b	CLIP-seq
MIRT2227314	hsa-miR-152	CLIP-seq
MIRT2227315	hsa-miR-1913	CLIP-seq
MIRT2227316	hsa-miR-324-3p	CLIP-seq
MIRT2227317	hsa-miR-4258	CLIP-seq
MIRT2227318	hsa-miR-4313	CLIP-seq
MIRT2227319	hsa-miR-4685-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001527	Component	Microfibril	IEA
GO:0005179	Function	Hormone activity	IBA
GO:0005201	Function	Extracellular matrix structural constituent	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005576	Component	Extracellular region	IBA
GO:0005576	Component	Extracellular region	IEA
GO:0006006	Process	Glucose metabolic process	IBA
GO:0007165	Process	Signal transduction	IEA
GO:0030023	Function	Extracellular matrix constituent conferring elasticity	IEA
GO:0031012	Component	Extracellular matrix	IBA
GO:0042593	Process	Glucose homeostasis	IBA
GO:0043010	Process	Camera-type eye development	IEA
GO:0048048	Process	Embryonic eye morphogenesis	IEA

Other IDs

• MIM: 608529
• HGNC: 18794
• e!Ensembl: ENSG00000142449

Protein

• UniProt ID: Q75N90
• Protein name: Fibrillin-3 [Cleaved into: Fibrillin-3 C-terminal peptide]
• Protein function: [Fibrillin-3]: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-containing microfibrils provide long-term force bear
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18193	Fibrillin_U_N	47 → 83	Fibrillin 1 unique N-terminal domain	Domain
  PF00683	TB	195 → 235	TB domain	Family
  PF07645	EGF_CA	247 → 287	Calcium-binding EGF domain	Domain
  PF00683	TB	303 → 349	TB domain	Family
  PF07645	EGF_CA	449 → 487	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	489 → 529	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	572 → 611	Calcium-binding EGF domain	Domain
  PF00683	TB	628 → 673	TB domain	Family
  PF07645	EGF_CA	682 → 722	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	724 → 764	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	766 → 804	Calcium-binding EGF domain	Domain
  PF00683	TB	820 → 862	TB domain	Family
  PF07645	EGF_CA	869 → 909	Calcium-binding EGF domain	Domain
  PF00683	TB	925 → 969	TB domain	Family
  PF07645	EGF_CA	1028 → 1069	Calcium-binding EGF domain	Domain
  PF12662	cEGF	1093 → 1116	Complement Clr-like EGF-like	Domain
  PF12662	cEGF	1135 → 1158	Complement Clr-like EGF-like	Domain
  PF12662	cEGF	1176 → 1199	Complement Clr-like EGF-like	Domain
  PF07645	EGF_CA	1238 → 1278	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1280 → 1319	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1321 → 1360	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1362 → 1402	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1404 → 1443	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1445 → 1487	Calcium-binding EGF domain	Domain
  PF00683	TB	1505 → 1549	TB domain	Family
  PF07645	EGF_CA	1563 → 1603	Calcium-binding EGF domain	Domain
  PF00683	TB	1660 → 1706	TB domain	Family
  PF07645	EGF_CA	1721 → 1761	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1763 → 1803	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1806 → 1845	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1847 → 1884	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1886 → 1927	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1929 → 1967	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1969 → 2009	Calcium-binding EGF domain	Domain
  PF00683	TB	2025 → 2071	TB domain	Family
  PF07645	EGF_CA	2084 → 2124	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	2126 → 2164	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	2166 → 2205	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	2207 → 2250	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	2252 → 2292	Calcium-binding EGF domain	Domain
  PF00683	TB	2308 → 2354	TB domain	Family
  PF07645	EGF_CA	2363 → 2403	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	2405 → 2444	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	2446 → 2483	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	2485 → 2526	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	2528 → 2566	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	2568 → 2608	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	2610 → 2648	Calcium-binding EGF domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in connective tissues such as skeletal muscle, tendon, skin, perichondrium and periosteum. Highly expressed in fetal lung, brain, kidney. Expressed at low level in prostate, testis, mammary gland, uterus, ovary,
• Sequence:

  MTLEGLYLARGPLARLLLAWSALLCMAGGQGRWDGALEAAGPGRVRRRGSPGILQGPNVC
  GSRFHAYCCPGWRTFPGRSQCVVPICRRACGEGFCSQPNLCTCADGTLAPSCGVSRGSGC
  SVSCMNGGTCRGASCLCQKGYTGTVCGQPICDRGCHNGGRCIGPNRCACVYGFMGPQCER
  DYRTGPCFGQVGPEGCQHQLTGLVCTKALCCATVGRAWGLPCELCPAQPHPCRRGFIPNI
  HTGACQDVDECQAVPGLCQGGSCVNMVGSFHCRCPVGHRLSDSSAACEDYRAGACFSVLF
  GGRCAGDLAGHYTRRQCCCDRGRCWAAGPVPELCPPRGSNEFQQLCAQRLPLLPGHPGLF
  PGLLGFGSNGMGPPLGPARLNPHGSDARGIPSLGPGNSNIGTATLNQTIDICRHFTNLCL
  NGRCLPTPSSYRCECNVGYTQDVRGECIDVDECTSSPCHHGDCVNIPGTYHCRCYPGFQA
  TPTRQACVDVDECIVSGGLCHLGRCVNTEGSFQCVCNAGFELSPDGKNCVDHNECATSTM
  CVNGVCLNEDGSFSCLCKPGFLLAPGGHYCMDIDECQTPGICVNGHCTNTEGSFRCQCLG
  GLAVGTDGRVCVDTHVRSTCYGAIEKGSCARPFPGTVTKSECCCANPDHGFGEPCQLCPA
  KDSAEFQALCSSGLGITTDGRDINECALDPEVCANGVCENLRGSYRCVCNLGYEAGASGK
  DCTDVDECALNSLLCDNGWCQNSPGSYSCSCPPGFHFWQDTEICKDVDECLSSPCVSGVC
  RNLAGSYTCKCGPGSRLDPSGTFCLDSTKGTCWLKIQESRCEVNLQGASLRSECCATLGA
  AWGSPCERCEIDPACARGFARMTGVTCDDVNECESFPGVCPNGRCVNTAGSFRCECPEGL
  MLDASGRLCVDVRLEPCFLRWDEDECGVTLPGKYRMDVCCCSIGAVWGVECEACPDPESL
  EFASLCPRGLGFASRDFLSGRPFYKDVNECKVFPGLCTHGTCRNTVGSFHCACAGGFALD
  AQERNCTDIDECRISPDLCGQGTCVNTPGSFECECFPGYESGFMLMKNCMDVDECARDPL
  LCRGGTCTNTDGSYKCQCPPGHELTAKGTACEDIDECSLSDGLCPHGQCVNVIGAFQCSC
  HAGFQSTPDRQGCVDINECRVQNGGCDVHCINTEGSYRCSCGQGYSLMPDGRACADVDEC
  EENPRVCDQGHCTNMPGGHRCLCYDGFMATPDMRTCVDVDECDLNPHICLHGDCENTKGS
  FVCHCQLGYMVRKGATGCSDVDECEVGGHNCDSHASCLNIPGSFSCRCLPGWVGDGFECH
  DLDECVSQEHRCSPRGDCLNVPGSYRCTCRQGFAGDGFFCEDRDECAENVDLCDNGQCLN
  APGGYRCECEMGFDPTEDHRACQDVDECAQGNLCAFGSCENLPGMFRCICNGGYELDRGG
  GNCTDINECADPVNCINGVCINTPGSYLCSCPQDFELNPSGVGCVDTRAGNCFLETHDRG
  DSGISCSAEIGVGVTRASCCCSLGRAWGNPCELCPMANTTEYRTLCPGGEGFQPNRITVI
  LEDIDECQELPGLCQGGDCVNTFGSFQCECPPGYHLSEHTRICEDIDECSTHSGICGPGT
  CYNTLGNYTCVCPAEYLQVNGGNNCMDMRKSVCFRHYNGTCQNELAFNVTRKMCCCSYNI
  GQAWNRPCEACPTPISPDYQILCGNQAPGFLTDIHTGKPLDIDECGEIPAICANGICINQ
  IGSFRCECPAGFNYNSILLACEDVDECGSRESPCQQNADCINIPGSYRCKCTRGYKLSPG
  GACVGRNECREIPNVCSHGDCMDTEGSYMCLCHRGFQASADQTLCMDIDECDRQPCGNGT
  CKNIIGSYNCLCFPGFVVTHNGDCVDFDECTTLVGQVCRFGHCLNTAGSFHCLCQDGFEL
  TADGKNCVDTNECLSLAGTCLPGTCQNLEGSFRCICPPGFQVQSDHCIDIDECSEEPNLC
  LFGTCTNSPGSFQCLCPPGFVLSDNGHRCFDTRQSFCFTRFEAGKCSVPKAFNTTKTRCC
  CSKRPGEGWGDPCELCPQEGSAAFQELCPFGHGAVPGPDDSREDVNECAENPGVCTNGVC
  VNTDGSFRCECPFGYSLDFTGINCVDTDECSVGHPCGQGTCTNVIGGFECACADGFEPGL
  MMTCEDIDECSLNPLLCAFRCHNTEGSYLCTCPAGYTLREDGAMCRDVDECADGQQDCHA
  RGMECKNLIGTFACVCPPGMRPLPGSGEGCTDDNECHAQPDLCVNGRCVNTAGSFRCDCD
  EGFQPSPTLTECHDIRQGPCFAEVLQTMCRSLSSSSEAVTRAECCCGGGRGWGPRCELCP
  LPGTSAYRKLCPHGSGYTAEGRDVDECRMLAHLCAHGECINSLGSFRCHCQAGYTPDATA
  TTCLDMDECSQVPKPCTFLCKNTKGSFLCSCPRGYLLEEDGRTCKDLDECTSRQHNCQFL
  CVNTVGAFTCRCPPGFTQHHQACFDNDECSAQPGPCGAHGHCHNTPGSFRCECHQGFTLV
  SSGHGCEDVNECDGPHRCQHGCQNQLGGYRCSCPQGFTQHSQWAQCVDENECALSPPTCG
  SASCRNTLGGFRCVCPSGFDFDQALGGCQEVDECAGRRGPCSYSCANTPGGFLCGCPQGY
  FRAGQGHCVSGLGFSPGPQDTPDKEELLSSEACYECKINGLSPRDRPRRSAHRDHQVNLA
  TLDSEALLTLGLNLSHLGRAERILELRPALEGLEGRIRYVIVRGNEQGFFRMHHLRGVSS
  LQLGRRRPGPGTYRLEVVSHMAGPWGVQPEGQPGPWGQALRLKVQLQLL

• Sequence length: 2809

Pathways

KEGG:

Cytoskeleton in muscle cells

Reactome:

Degradation of the extracellular matrix
Elastic fibre formation
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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC VALVE DISEASE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FBN3-related disorder	Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Flexion contracture	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR TELANGIECTASIA TYPE 2	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	25514237	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	26752647		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	26752647	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	36835202	Associate	★☆☆☆☆ Found in Text Mining only
Bronchial Hyperreactivity	Bronchial hyperreactivity	Pubtator	36835202	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34238116	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	25422352		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	15221638		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29507699		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19692420	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	17785364, 19692420, 20200332, 20630504, 21411746, 22301903, 23265956, 23585338, 24878041, 25422352		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	LHGDN	17785364		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	19692420, 20200332, 20630504, 20855553, 22301903, 24878041, 35141985	Associate	★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	25863124	Associate	★☆☆☆☆ Found in Text Mining only