LTBP2 (latent transforming growth factor beta binding protein 2)

Gene

• Entrez ID: 4053
• Gene name: Latent transforming growth factor beta binding protein 2
• Gene symbol: LTBP2
• Synonyms (NCBI Gene): C14orf141, GLC3D, LTBP3, MSPKA, MSTP031, WMS3
• Chromosome: 14
• Chromosome location: 14q24.3
• Summary: The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the largest member of the LTBP family poss

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918355	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs137854855	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs137854856	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs137854858	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs137854859	T>C,G	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs137854860	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs137854861	G>A,C	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs137854862	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs137854863	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs137854864	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs137854895	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs387907174	G>A	Pathogenic	Coding sequence variant, stop gained
rs387907175	C>T	Pathogenic	Coding sequence variant, missense variant
rs777661862	->G	Pathogenic	Frameshift variant, coding sequence variant
rs786205624	C>A,G	Likely-pathogenic	Intron variant
rs1446110883	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1566622093	G>C	Likely-pathogenic	Stop gained, coding sequence variant
rs1566628109	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1566634475	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566635134	GGCACCAGCATTCG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566636728	A>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018706	hsa-miR-335-5p	Microarray	18185580
MIRT714270	hsa-miR-3940-3p	HITS-CLIP	19536157
MIRT714269	hsa-miR-6850-3p	HITS-CLIP	19536157
MIRT714268	hsa-miR-6075	HITS-CLIP	19536157
MIRT714267	hsa-miR-1225-3p	HITS-CLIP	19536157
MIRT714266	hsa-miR-1233-3p	HITS-CLIP	19536157
MIRT714265	hsa-miR-4755-3p	HITS-CLIP	19536157
MIRT649730	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT649729	hsa-miR-486-5p	HITS-CLIP	23824327
MIRT649728	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT649727	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT649726	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT649725	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT495994	hsa-miR-5582-5p	PAR-CLIP	22291592
MIRT495992	hsa-miR-3622a-5p	PAR-CLIP	22291592
MIRT495991	hsa-miR-4270	PAR-CLIP	22291592
MIRT495990	hsa-miR-4441	PAR-CLIP	22291592
MIRT495989	hsa-miR-6754-5p	PAR-CLIP	22291592
MIRT495988	hsa-miR-7113-5p	PAR-CLIP	22291592
MIRT495987	hsa-miR-3190-5p	PAR-CLIP	22291592
MIRT495986	hsa-miR-4487	PAR-CLIP	22291592
MIRT495985	hsa-miR-6806-5p	PAR-CLIP	22291592
MIRT495984	hsa-miR-4423-3p	PAR-CLIP	22291592
MIRT495983	hsa-miR-4435	PAR-CLIP	22291592
MIRT461185	hsa-miR-4753-5p	PAR-CLIP	23592263
MIRT461184	hsa-miR-3922-5p	PAR-CLIP	23592263
MIRT461183	hsa-miR-6730-5p	PAR-CLIP	23592263
MIRT461182	hsa-miR-4708-3p	PAR-CLIP	23592263
MIRT461181	hsa-miR-8071	PAR-CLIP	23592263
MIRT461180	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT461179	hsa-miR-3165	PAR-CLIP	23592263
MIRT461178	hsa-miR-3138	PAR-CLIP	23592263
MIRT461177	hsa-miR-4520-3p	PAR-CLIP	23592263
MIRT461178	hsa-miR-3138	PAR-CLIP	26701625
MIRT461178	hsa-miR-3138	PAR-CLIP	26701625
MIRT461179	hsa-miR-3165	PAR-CLIP	26701625
MIRT461179	hsa-miR-3165	PAR-CLIP	26701625
MIRT461184	hsa-miR-3922-5p	PAR-CLIP	26701625
MIRT461184	hsa-miR-3922-5p	PAR-CLIP	26701625
MIRT461177	hsa-miR-4520-3p	PAR-CLIP	26701625
MIRT461177	hsa-miR-4520-3p	PAR-CLIP	26701625
MIRT461182	hsa-miR-4708-3p	PAR-CLIP	26701625
MIRT461182	hsa-miR-4708-3p	PAR-CLIP	26701625
MIRT461185	hsa-miR-4753-5p	PAR-CLIP	26701625
MIRT461185	hsa-miR-4753-5p	PAR-CLIP	26701625
MIRT461183	hsa-miR-6730-5p	PAR-CLIP	26701625
MIRT461183	hsa-miR-6730-5p	PAR-CLIP	26701625
MIRT461180	hsa-miR-6880-5p	PAR-CLIP	26701625
MIRT461180	hsa-miR-6880-5p	PAR-CLIP	26701625
MIRT461181	hsa-miR-8071	PAR-CLIP	26701625
MIRT461181	hsa-miR-8071	PAR-CLIP	26701625
MIRT714270	hsa-miR-3940-3p	HITS-CLIP	19536157
MIRT714269	hsa-miR-6850-3p	HITS-CLIP	19536157
MIRT714268	hsa-miR-6075	HITS-CLIP	19536157
MIRT714267	hsa-miR-1225-3p	HITS-CLIP	19536157
MIRT714266	hsa-miR-1233-3p	HITS-CLIP	19536157
MIRT714265	hsa-miR-4755-3p	HITS-CLIP	19536157
MIRT649730	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT649729	hsa-miR-486-5p	HITS-CLIP	23824327
MIRT649728	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT649727	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT649726	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT649725	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT495994	hsa-miR-5582-5p	PAR-CLIP	22291592
MIRT495992	hsa-miR-3622a-5p	PAR-CLIP	22291592
MIRT495991	hsa-miR-4270	PAR-CLIP	22291592
MIRT495990	hsa-miR-4441	PAR-CLIP	22291592
MIRT495989	hsa-miR-6754-5p	PAR-CLIP	22291592
MIRT495988	hsa-miR-7113-5p	PAR-CLIP	22291592
MIRT495987	hsa-miR-3190-5p	PAR-CLIP	22291592
MIRT495986	hsa-miR-4487	PAR-CLIP	22291592
MIRT495985	hsa-miR-6806-5p	PAR-CLIP	22291592
MIRT495984	hsa-miR-4423-3p	PAR-CLIP	22291592
MIRT495983	hsa-miR-4435	PAR-CLIP	22291592
MIRT461185	hsa-miR-4753-5p	PAR-CLIP	23592263
MIRT461184	hsa-miR-3922-5p	PAR-CLIP	23592263
MIRT461183	hsa-miR-6730-5p	PAR-CLIP	23592263
MIRT461182	hsa-miR-4708-3p	PAR-CLIP	23592263
MIRT461181	hsa-miR-8071	PAR-CLIP	23592263
MIRT461180	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT461179	hsa-miR-3165	PAR-CLIP	23592263
MIRT461178	hsa-miR-3138	PAR-CLIP	23592263
MIRT461177	hsa-miR-4520-3p	PAR-CLIP	23592263
MIRT1122156	hsa-miR-1206	CLIP-seq
MIRT1122157	hsa-miR-1827	CLIP-seq
MIRT1122158	hsa-miR-203	CLIP-seq
MIRT1122159	hsa-miR-3127-5p	CLIP-seq
MIRT1122160	hsa-miR-3607-3p	CLIP-seq
MIRT1122161	hsa-miR-3646	CLIP-seq
MIRT1122162	hsa-miR-3662	CLIP-seq
MIRT1122163	hsa-miR-3918	CLIP-seq
MIRT1122164	hsa-miR-4312	CLIP-seq
MIRT1122165	hsa-miR-4317	CLIP-seq
MIRT1122166	hsa-miR-4659a-5p	CLIP-seq
MIRT1122167	hsa-miR-4659b-5p	CLIP-seq
MIRT1122168	hsa-miR-4729	CLIP-seq
MIRT1122169	hsa-miR-4773	CLIP-seq
MIRT1122170	hsa-miR-4776-3p	CLIP-seq
MIRT1122171	hsa-miR-579	CLIP-seq
MIRT1550971	hsa-miR-1197	CLIP-seq
MIRT1122157	hsa-miR-1827	CLIP-seq
MIRT1122158	hsa-miR-203	CLIP-seq
MIRT1550972	hsa-miR-2116	CLIP-seq
MIRT1550973	hsa-miR-223	CLIP-seq
MIRT1550974	hsa-miR-3121-5p	CLIP-seq
MIRT1550975	hsa-miR-3126-5p	CLIP-seq
MIRT1550976	hsa-miR-3158-5p	CLIP-seq
MIRT1550977	hsa-miR-3199	CLIP-seq
MIRT1122160	hsa-miR-3607-3p	CLIP-seq
MIRT1122161	hsa-miR-3646	CLIP-seq
MIRT1122162	hsa-miR-3662	CLIP-seq
MIRT1550978	hsa-miR-3688-3p	CLIP-seq
MIRT1550979	hsa-miR-380	CLIP-seq
MIRT1550980	hsa-miR-3978	CLIP-seq
MIRT1550981	hsa-miR-4257	CLIP-seq
MIRT1550982	hsa-miR-4261	CLIP-seq
MIRT1550983	hsa-miR-4276	CLIP-seq
MIRT1550984	hsa-miR-4419a	CLIP-seq
MIRT1550985	hsa-miR-4427	CLIP-seq
MIRT1550986	hsa-miR-4436b-3p	CLIP-seq
MIRT1550987	hsa-miR-4486	CLIP-seq
MIRT1550988	hsa-miR-4510	CLIP-seq
MIRT1550989	hsa-miR-4529-5p	CLIP-seq
MIRT1550990	hsa-miR-4697-3p	CLIP-seq
MIRT1550991	hsa-miR-4724-5p	CLIP-seq
MIRT1550992	hsa-miR-4740-5p	CLIP-seq
MIRT1550993	hsa-miR-501-5p	CLIP-seq
MIRT1550994	hsa-miR-9	CLIP-seq
MIRT1550981	hsa-miR-4257	CLIP-seq
MIRT2034520	hsa-miR-30a	CLIP-seq
MIRT2034521	hsa-miR-30b	CLIP-seq
MIRT2034522	hsa-miR-30c	CLIP-seq
MIRT2034523	hsa-miR-30d	CLIP-seq
MIRT2034524	hsa-miR-30e	CLIP-seq
MIRT2034525	hsa-miR-3125	CLIP-seq
MIRT2034526	hsa-miR-3198	CLIP-seq
MIRT2034527	hsa-miR-3916	CLIP-seq
MIRT1550981	hsa-miR-4257	CLIP-seq
MIRT2034528	hsa-miR-4309	CLIP-seq
MIRT2034529	hsa-miR-4539	CLIP-seq
MIRT2264982	hsa-miR-1254	CLIP-seq
MIRT2264983	hsa-miR-31	CLIP-seq
MIRT2264984	hsa-miR-3116	CLIP-seq
MIRT2264985	hsa-miR-4717-3p	CLIP-seq
MIRT2264986	hsa-miR-515-3p	CLIP-seq
MIRT2264987	hsa-miR-519e	CLIP-seq
MIRT2264988	hsa-miR-550a	CLIP-seq
MIRT2264989	hsa-miR-661	CLIP-seq
MIRT2390392	hsa-miR-3074-5p	CLIP-seq
MIRT2390393	hsa-miR-3653	CLIP-seq
MIRT2564020	hsa-miR-2392	CLIP-seq
MIRT2564021	hsa-miR-3123	CLIP-seq
MIRT1122159	hsa-miR-3127-5p	CLIP-seq
MIRT1550976	hsa-miR-3158-5p	CLIP-seq
MIRT2564022	hsa-miR-3170	CLIP-seq
MIRT2564023	hsa-miR-3189-3p	CLIP-seq
MIRT2564024	hsa-miR-323-5p	CLIP-seq
MIRT2564025	hsa-miR-33a	CLIP-seq
MIRT2564026	hsa-miR-33b	CLIP-seq
MIRT2564027	hsa-miR-3620	CLIP-seq
MIRT2564028	hsa-miR-3688-5p	CLIP-seq
MIRT2564029	hsa-miR-3689d	CLIP-seq
MIRT1550979	hsa-miR-380	CLIP-seq
MIRT2564030	hsa-miR-382	CLIP-seq
MIRT1122163	hsa-miR-3918	CLIP-seq
MIRT2564031	hsa-miR-3919	CLIP-seq
MIRT2564032	hsa-miR-4252	CLIP-seq
MIRT1550981	hsa-miR-4257	CLIP-seq
MIRT2564033	hsa-miR-4263	CLIP-seq
MIRT2564034	hsa-miR-4264	CLIP-seq
MIRT2564035	hsa-miR-4286	CLIP-seq
MIRT2564036	hsa-miR-4328	CLIP-seq
MIRT2564037	hsa-miR-4470	CLIP-seq
MIRT2564038	hsa-miR-4481	CLIP-seq
MIRT2564039	hsa-miR-4534	CLIP-seq
MIRT2564040	hsa-miR-4645-3p	CLIP-seq
MIRT2564041	hsa-miR-4695-3p	CLIP-seq
MIRT2564042	hsa-miR-4700-3p	CLIP-seq
MIRT2564043	hsa-miR-4745-5p	CLIP-seq
MIRT2564044	hsa-miR-4756-3p	CLIP-seq
MIRT2564045	hsa-miR-4758-5p	CLIP-seq
MIRT1122169	hsa-miR-4773	CLIP-seq
MIRT2564046	hsa-miR-4795-3p	CLIP-seq
MIRT2564047	hsa-miR-4797-3p	CLIP-seq
MIRT2564048	hsa-miR-4802-5p	CLIP-seq
MIRT2564049	hsa-miR-483-3p	CLIP-seq
MIRT2564050	hsa-miR-501-3p	CLIP-seq
MIRT2564051	hsa-miR-502-3p	CLIP-seq
MIRT2564052	hsa-miR-548v	CLIP-seq
MIRT2564053	hsa-miR-584	CLIP-seq
MIRT2564054	hsa-miR-615-5p	CLIP-seq
MIRT2564055	hsa-miR-644	CLIP-seq
MIRT2564056	hsa-miR-647	CLIP-seq
MIRT2564057	hsa-miR-659	CLIP-seq
MIRT2564058	hsa-miR-876-3p	CLIP-seq
MIRT2684281	hsa-miR-1179	CLIP-seq
MIRT1550971	hsa-miR-1197	CLIP-seq
MIRT2564020	hsa-miR-2392	CLIP-seq
MIRT2264983	hsa-miR-31	CLIP-seq
MIRT2564021	hsa-miR-3123	CLIP-seq
MIRT1122159	hsa-miR-3127-5p	CLIP-seq
MIRT2564022	hsa-miR-3170	CLIP-seq
MIRT2564023	hsa-miR-3189-3p	CLIP-seq
MIRT2564025	hsa-miR-33a	CLIP-seq
MIRT2564026	hsa-miR-33b	CLIP-seq
MIRT2564027	hsa-miR-3620	CLIP-seq
MIRT2564028	hsa-miR-3688-5p	CLIP-seq
MIRT2564029	hsa-miR-3689d	CLIP-seq
MIRT2564030	hsa-miR-382	CLIP-seq
MIRT1122163	hsa-miR-3918	CLIP-seq
MIRT2564031	hsa-miR-3919	CLIP-seq
MIRT2564032	hsa-miR-4252	CLIP-seq
MIRT1550981	hsa-miR-4257	CLIP-seq
MIRT2564035	hsa-miR-4286	CLIP-seq
MIRT2564037	hsa-miR-4470	CLIP-seq
MIRT2684282	hsa-miR-4501	CLIP-seq
MIRT2564039	hsa-miR-4534	CLIP-seq
MIRT2684283	hsa-miR-4666-5p	CLIP-seq
MIRT2564042	hsa-miR-4700-3p	CLIP-seq
MIRT2264985	hsa-miR-4717-3p	CLIP-seq
MIRT2564044	hsa-miR-4756-3p	CLIP-seq
MIRT2564046	hsa-miR-4795-3p	CLIP-seq
MIRT2564048	hsa-miR-4802-5p	CLIP-seq
MIRT2564049	hsa-miR-483-3p	CLIP-seq
MIRT2564052	hsa-miR-548v	CLIP-seq
MIRT2564054	hsa-miR-615-5p	CLIP-seq
MIRT2564055	hsa-miR-644	CLIP-seq
MIRT2564057	hsa-miR-659	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005201	Function	Extracellular matrix structural constituent	RCA	20551380, 27559042, 28327460
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	17293099, 17581631
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0006605	Process	Protein targeting	TAS	7798248
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	TAS	8697098
GO:0008201	Function	Heparin binding	IEA
GO:0009306	Process	Protein secretion	TAS	8697098
GO:0019838	Function	Growth factor binding	IEA
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	27559042, 28327460
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	TAS	7798248
GO:0035592	Process	Establishment of protein localization to extracellular region	IEA
GO:0050436	Function	Microfibril binding	IBA
GO:0070062	Component	Extracellular exosome	HDA	21362503, 23533145
GO:0097435	Process	Supramolecular fiber organization	IBA
GO:0097435	Process	Supramolecular fiber organization	IMP	24908666

Other IDs

• MIM: 602091
• HGNC: 6715
• e!Ensembl: ENSG00000119681

Protein

• UniProt ID: Q14767
• Protein name: Latent-transforming growth factor beta-binding protein 2 (LTBP-2)
• Protein function: May play an integral structural role in elastic-fiber architectural organization and/or assembly.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00683	TB	562 → 599	TB domain	Family
  PF07645	EGF_CA	622 → 661	Calcium-binding EGF domain	Domain
  PF00683	TB	682 → 727	TB domain	Family
  PF07645	EGF_CA	844 → 885	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	887 → 928	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	930 → 968	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	970 → 1008	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1010 → 1049	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1051 → 1091	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1093 → 1133	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1135 → 1174	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1176 → 1216	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1218 → 1257	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1259 → 1301	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1303 → 1343	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1345 → 1386	Calcium-binding EGF domain	Domain
  PF00683	TB	1422 → 1466	TB domain	Family
  PF07645	EGF_CA	1485 → 1526	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1528 → 1566	Calcium-binding EGF domain	Domain
  PF00683	TB	1594 → 1639	TB domain	Family
  PF00008	EGF	1737 → 1766	EGF-like domain	Domain
  PF07645	EGF_CA	1774 → 1817	Calcium-binding EGF domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the aorta (at protein level). Expressed in lung, weakly expressed in heart, placenta, liver and skeletal muscle. {ECO:0000269|PubMed:17293099, ECO:0000269|PubMed:7798248}.
• Sequence:

  MRPRTKARSPGRALRNPWRGFLPLTLALFVGAGHAQRDPVGRYEPAGGDANRLRRPGGSY
  PAAAAAKVYSLFREQDAPVAGLQPVERAQPGWGSPRRPTEAEARRPSRAQQSRRVQPPAQ
  TRRSTPLGQQQPAPRTRAAPALPRLGTPQRSGAAPPTPPRGRLTGRNVCGGQCCPGWTTA
  NSTNHCIKPVCEPPCQNRGSCSRPQLCVCRSGFRGARCEEVIPDEEFDPQNSRLAPRRWA
  ERSPNLRRSSAAGEGTLARAQPPAPQSPPAPQSPPAGTLSGLSQTHPSQQHVGLSRTVRL
  HPTATASSQLSSNALPPGPGLEQRDGTQQAVPLEHPSSPWGLNLTEKIKKIKIVFTPTIC
  KQTCARGHCANSCERGDTTTLYSQGGHGHDPKSGFRIYFCQIPCLNGGRCIGRDECWCPA
  NSTGKFCHLPIPQPDREPPGRGSRPRALLEAPLKQSTFTLPLSNQLASVNPSLVKVHIHH
  PPEASVQIHQVAQVRGGVEEALVENSVETRPPPWLPASPGHSLWDSNNIPARSGEPPRPL
  PPAAPRPRGLLGRCYLNTVNGQCANPLLELTTQEDCCGSVGAFWGVTLCAPCPPRPASPV
  IENGQLECPQGYKRLNLTHCQDINECLTLGLCKDAECVNTRGSYLCTCRPGLMLDPSRSR
  CVSDKAISMLQGLCYRSLGPGTCTLPLAQRITKQICCCSRVGKAWGSECEKCPLPGTEAF
  REICPAGHGYTYASSDIRLSMRKAEEEELARPPREQGQRSSGALPGPAERQPLRVVTDTW
  LEAGTIPDKGDSQAGQVTTSVTHAPAWVTGNATTPPMPEQGIAEIQEEQVTPSTDVLVTL
  STPGIDRCAAGATNVCGPGTCVNLPDGYRCVCSPGYQLHPSQAYCTDDNECLRDPCKGKG
  RCINRVGSYSCFCYPGYTLATSGATQECQDINECEQPGVCSGGQCTNTEGSYHCECDQGY
  IMVRKGHCQDINECRHPGTCPDGRCVNSPGSYTCLACEEGYRGQSGSCVDVNECLTPGVC
  AHGKCTNLEGSFRCSCEQGYEVTSDEKGCQDVDECASRASCPTGLCLNTEGSFACSACEN
  GYWVNEDGTACEDLDECAFPGVCPSGVCTNTAGSFSCKDCDGGYRPSPLGDSCEDVDECE
  DPQSSCLGGECKNTVGSYQCLCPQGFQLANGTVCEDVNECMGEEHCAPHGECLNSHGSFF
  CLCAPGFVSAEGGTSCQDVDECATTDPCVGGHCVNTEGSFNCLCETGFQPSPESGECVDI
  DECEDYGDPVCGTWKCENSPGSYRCVLGCQPGFHMAPNGDCIDIDECANDTMCGSHGFCD
  NTDGSFRCLCDQGFEISPSGWDCVDVNECELMLAVCGAALCENVEGSFLCLCASDLEEYD
  AQEGHCRPRGAGGQSMSEAPTGDHAPAPTRMDCYSGQKGHAPCSSVLGRNTTQAECCCTQ
  GASWGDACDLCPSEDSAEFSEICPSGKGYIPVEGAWTFGQTMYTDADECVIFGPGLCPNG
  RCLNTVPGYVCLCNPGFHYDASHKKCEDHDECQDLACENGECVNTEGSFHCFCSPPLTLD
  LSQQRCMNSTSSTEDLPDHDIHMDICWKKVTNDVCSEPLRGHRTTYTECCCQDGEAWSQQ
  CALCPPRSSEVYAQLCNVARIEAEREAGVHFRPGYEYGPGPDDLHYSIYGPDGAPFYNYL
  GPEDTVPEPAFPNTAGHSADRTPILESPLQPSELQPHYVASHPEPPAGFEGLQAEECGIL
  NGCENGRCVRVREGYTCDCFEGFQLDAAHMACVDVNECDDLNGPAVLCVHGYCENTEGSY
  RCHCSPGYVAEAGPPHCTAKE

• Sequence length: 1821

Pathways

Reactome:

Molecules associated with elastic fibres

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Glaucoma 3, primary congenital, D	Pathogenic; Likely pathogenic	rs137854895, rs1327636983, rs924495842, rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs774139166, rs387907175	RCV000007996 RCV002507788 RCV005356244 RCV000007990 RCV000007991 RCV000007992 RCV000007993 RCV000007995 RCV003990214 RCV003987333
Glaucoma 3, primary infantile, B	Likely pathogenic; Pathogenic	rs1327636983, rs924495842	RCV002507788 RCV005356244
Glaucoma 3A	Pathogenic; Likely pathogenic	rs137854895, rs1566660365	RCV000114816 RCV005620311
Glaucoma of childhood	Likely pathogenic; Pathogenic	rs1446110883	RCV000826117
LTBP2-related disorder	Likely pathogenic	rs2506127645	RCV004534264
Marfan syndrome	Pathogenic	rs137854855	RCV000114808
Microspherophakia	Likely pathogenic; Pathogenic	rs2139715414, rs121918355, rs777661862, rs1566628109, rs1566636728, rs387907174, rs387907175	RCV001806717 RCV000024324 RCV000007994 RCV000024325 RCV000024326 RCV000024327 RCV000024328
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	Likely pathogenic; Pathogenic	rs1327636983, rs924495842, rs121918355, rs2506133762, rs773910322, rs387907175	RCV002507788 RCV005356244 RCV003313914 RCV003314410 RCV004560525 RCV003338387
Primary open angle glaucoma	Likely pathogenic	rs137854858	RCV000114806
Weill-Marchesani syndrome 1	Pathogenic	rs137854856	RCV000114810
Weill-Marchesani syndrome 3	Likely pathogenic; Pathogenic	rs1327636983, rs924495842, rs137854856	RCV002507788 RCV005356244 RCV000030740

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Alveolar capillary dysplasia without misalignment of pulmonary veins	Uncertain significance	rs149991486	RCV005863097
Cervical cancer	Uncertain significance	rs140493259	RCV005893288
Cholangiocarcinoma	Benign	rs77172932, rs862032	RCV005924422 RCV005925034
Ectopia lentis 1, isolated, autosomal dominant	Benign; Likely benign	rs137854857	RCV000114807
Familial cancer of breast	Conflicting classifications of pathogenicity	rs138194436	RCV005893290
Gastric cancer	Benign; Uncertain significance; Likely benign	rs77172932, rs931485297, rs144293300	RCV005924420 RCV005927029 RCV005903035
Lung cancer	Benign	rs862032	RCV005925035
Ovarian serous cystadenocarcinoma	Benign; Conflicting classifications of pathogenicity	rs862032, rs138194436, rs139481866	RCV005925032 RCV005893291 RCV005907642
Papillary renal cell carcinoma type 1	Likely benign	rs371023355	RCV005932134
Primary congenital glaucoma	Conflicting classifications of pathogenicity; Uncertain significance	rs763990884, rs565536636, rs781717691, rs546442756	RCV000294253 RCV000329687 RCV000354238 RCV000394332
Pseudoexfoliation glaucoma	Conflicting classifications of pathogenicity; Uncertain significance	rs137854861, rs137854859, rs137854886, rs137854864	RCV000114805 RCV000114809 RCV000119305 RCV000119306
Sarcoma	Likely benign	rs11624628	RCV005917713
Thymoma	Benign; Conflicting classifications of pathogenicity	rs77172932, rs862032, rs138194436	RCV005924421 RCV005925033 RCV005893293
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs140493259	RCV005893289
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	rs138194436	RCV005893292
Uterine corpus endometrial carcinoma	Likely benign	rs113633445	RCV005916437
Weill-Marchesani syndrome	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs137854861, rs137854857, rs137854862, rs137854886, rs2079631, rs78258030, rs699374, rs61738025, rs2304707, rs934996, rs552983028, rs886050747, rs191692241, rs576929018, rs574028105, rs139030976, rs143456909, rs138194436, rs201661499, rs61505039, rs149991486, rs771319126, rs368269193, rs142675579, rs140719298, rs886050759, rs779279335, rs886050761, rs886050763, rs886050764, rs886050750, rs886050751, rs886050752, rs886050754, rs140493259, rs117800773, rs562333691, rs201598003, rs763990884, rs757843416, rs886050757, rs773718655, rs201591982, rs886050758, rs764120281, rs756729691, rs759632617, rs143282840, rs773927709, rs61980926, rs73296215, rs183119073, rs565536636, rs886050749, rs7569, rs541978964, rs141989493, rs192723743, rs772174775, rs61738022, rs80088294, rs141318496, rs369840829, rs151176143, rs376663839, rs753628301, rs144866585, rs373539611, rs775155970, rs139018077, rs553562104, rs371940681, rs149952751, rs571506111, rs886050748, rs1052939, rs781717691, rs886050753, rs185374765, rs546442756, rs886050755, rs150484024, rs150977380, rs61738013, rs886050756, rs759008893, rs562124154, rs537908823, rs140818407, rs200471693, rs150408645, rs111342797, rs886050760, rs886050762, rs769936231, rs79886273, rs190814774, rs139932140, rs116914994, rs61729544, rs76172717, rs60337900, rs144521879, rs61738017, rs61736977, rs45468895, rs145851939, rs546041607, rs61738024, rs140842900, rs149587738, rs12586758, rs149953380, rs767484358, rs201787294, rs143528294, rs74758312, rs200259519, rs757559806, rs199581688, rs74384554, rs531824728, rs10141546, rs1595233261, rs190461277, rs753803515, rs113879332, rs949885665, rs73296214, rs77847288, rs1419112516, rs1378655630, rs527271189, rs187052141, rs2086887490, rs2086890935, rs541743695, rs374130664, rs1175589944, rs913148674, rs41307092, rs1323555762, rs2086896748, rs2086896920, rs957387729, rs534807623, rs146119949, rs776552082, rs143010135, rs549156119, rs1435761349, rs759870336, rs372981316, rs189020867, rs139734678, rs764652187, rs1194291909, rs773510546, rs75200417, rs137871407, rs769745393, rs578210394, rs747333533, rs368195399, rs113219139, rs2087004341, rs769155905, rs200532538, rs373253770, rs760459796, rs775487511, rs201430837, rs150855472, rs45473602, rs7145480, rs2087256544, rs145507464, rs925483356, rs757918162, rs180947562, rs757892170, rs147534770, rs765689019, rs987914104, rs780864087, rs372209109, rs557904436, rs139052892, rs943163124, rs777450651, rs374099324, rs558742251, rs199581921, rs1469851587, rs748744542, rs765474184, rs892707408, rs750045564, rs551478195, rs1004486722, rs201838800	RCV001117710 RCV001116267 RCV000346813 RCV000338981 RCV001118722 RCV000327068 RCV000293181 RCV000402662 RCV000268888 RCV001116471 RCV000406207 RCV000398233 RCV000402586 RCV000342327 RCV000404159 RCV000278286 RCV000387795 RCV000305307 RCV000356507 RCV000298388 RCV000285717 RCV000402638 RCV000366996 RCV000268345 RCV000351186 RCV000329889 RCV000335336 RCV000370165 RCV000372821 RCV000278299 RCV000277624 RCV000368723 RCV000382063 RCV000307991 RCV000377996 RCV000348233 RCV000308678 RCV000333846 RCV000386013 RCV000287657 RCV000324441 RCV000404845 RCV000378323 RCV000388030 RCV000347515 RCV000401902 RCV000312279 RCV000328567 RCV000281479 RCV000373926 RCV000303516 RCV000333204 RCV000293430 RCV000396250 RCV000396242 RCV000353570 RCV000287577 RCV000378439 RCV000366079 RCV000318216 RCV000344599 RCV000356177 RCV000369452 RCV000336974 RCV000394560 RCV000268816 RCV000403305 RCV000357782 RCV000299221 RCV000259401 RCV000289155 RCV000341687 RCV000283686 RCV000366587 RCV000267076 RCV000263011 RCV000259400 RCV000290828 RCV000280827 RCV000404093 RCV000369662 RCV000268172 RCV000361845 RCV000303887 RCV000373164 RCV000330097 RCV000271571 RCV000320214 RCV000350408 RCV000344491 RCV000261945 RCV000277112 RCV000280160 RCV000315511 RCV000271996 RCV000357706 RCV001121381 RCV001121190 RCV001118724 RCV001115745 RCV001120860 RCV001117387 RCV001121283 RCV001118727 RCV001117175 RCV001120765 RCV001117267 RCV001118996 RCV001116047 RCV001116366 RCV001121377 RCV001118636 RCV001117086 RCV001115829 RCV001115832 RCV001116469 RCV001116270 RCV001116159 RCV001119193 RCV001116474 RCV001117596 RCV001118453 RCV001118454 RCV001118457 RCV001119970 RCV001119972 RCV001119973 RCV001120270 RCV001120271 RCV001120274 RCV001115385 RCV001115387 RCV001118534 RCV001118536 RCV001118538 RCV001120062 RCV001120371 RCV001120372 RCV001120374 RCV001115477 RCV001116888 RCV001116890 RCV001116892 RCV001120172 RCV001120173 RCV001120176 RCV001120480 RCV001115572 RCV001115574 RCV001117005 RCV001117006 RCV001118634 RCV001120574 RCV001120575 RCV001120577 RCV001120579 RCV001120581 RCV001115660 RCV001115662 RCV001117087 RCV001118725 RCV001120663 RCV001117176 RCV001118804 RCV001118805 RCV001118807 RCV001120766 RCV001115831 RCV001115835 RCV001117268 RCV001117271 RCV001118897 RCV001120861 RCV001120863 RCV001115934 RCV001116044 RCV001119092 RCV001121068 RCV001121071 RCV001116161 RCV001117599 RCV001121191 RCV001121193 RCV001117708 RCV001119276 RCV001121279 RCV001121282 RCV001116363 RCV001116368 RCV001117813 RCV001117816 RCV001117817 RCV001119384 RCV001119386 RCV001119389 RCV001121380 RCV001117923 RCV001119472 RCV001115743 RCV001117179 RCV001117390 RCV001119094 RCV001121066

Associations from Text Mining
Disease Name	Relationship Type	References
Anterior segment mesenchymal dysgenesis	Associate	39870121
Arthritis Rheumatoid	Associate	17594488
Astigmatism	Associate	38222456
Breast Neoplasms	Associate	21527583
Capillary Malformation Arteriovenous Malformation	Associate	33098376
Carcinogenesis	Associate	30956730
Carcinoma Hepatocellular	Stimulate	31574831
Carcinoma Pancreatic Ductal	Stimulate	28669978
Cardiovascular Abnormalities	Associate	38222456
Cataract zonular	Associate	21081970
Colorectal Neoplasms	Associate	30956730
COVID 19	Associate	36012423
Ectopia Lentis	Associate	22025892, 38190127, 38222456
Exfoliation Syndrome	Associate	23401661
Exfoliation Syndrome	Stimulate	34964803
Eye Infections	Associate	20179738
Fibrosis	Stimulate	39617181
Glaucoma	Associate	20179738, 21081970, 22025892, 23401661, 27409795, 35144644, 38222456
Glaucoma 3 Primary Congenital A	Associate	19361779, 21081970, 22025892, 22128238, 23218701, 23378721, 23401661, 27293371, 27409795, 30820150, 32165823, 35094026, 36241656, 39337513
Glaucoma Angle Closure	Associate	39317460
Glaucoma Open Angle	Associate	23401661, 37032519
Glycogen Storage Disease Type IV	Stimulate	29620158
Heart Defects Congenital	Associate	33098376
Heart Failure	Associate	39563337
Hepatitis Viral Human	Associate	31574831
Hydrophthalmos	Associate	22025892
Hypersensitivity Immediate	Associate	38631604
Lens Diseases	Associate	22025892
Lens Subluxation	Associate	20179738, 21081970, 22025892
Leukemia Lymphocytic Chronic B Cell	Associate	20484983
Liver Cirrhosis	Associate	39617181
Lupus Erythematosus Systemic	Inhibit	17469140
Lymphatic Metastasis	Stimulate	27281608, 29620158
Marfan Syndrome	Associate	20179738, 21081970
Megalocornea	Associate	20179738, 22025892
Microspherophakia	Associate	29751740
Muscle Weakness	Associate	22025892
Myopia	Associate	29346494, 38222456
Nasopharyngeal Carcinoma	Associate	25974126
Neoplasms	Inhibit	25974126
Neoplasms	Associate	27281608, 28669978, 29620158, 31574831, 35968244, 39563337
Oral Submucous Fibrosis	Associate	32826876
Pancreatic Neoplasms	Associate	28669978
Peripheral Nervous System Diseases	Associate	36671424
Polydactyly	Associate	33098376
Squamous Cell Carcinoma of Head and Neck	Stimulate	27281608
Squamous Cell Carcinoma of Head and Neck	Associate	32826876
Stomach Neoplasms	Associate	29620158, 35968244, 38631604
Weill Marchesani Like Syndrome	Associate	24940034
Weill Marchesani Syndrome	Associate	20179738, 22025892, 24940034, 38222456