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

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glaucoma 3, primary infantile, B	Likely pathogenic; Pathogenic	rs1327636983, rs924495842	RCV002507788 RCV005356244	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glaucoma 3A	Pathogenic; Likely pathogenic	rs137854895, rs1566660365	RCV000114816 RCV005620311	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glaucoma of childhood	Likely pathogenic; Pathogenic	rs1446110883	RCV000826117	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LTBP2-related disorder	Likely pathogenic	rs2506127645	RCV004534264	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Marfan syndrome	Pathogenic	rs137854855	RCV000114808	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microspherophakia	Likely pathogenic; Pathogenic	rs2139715414, rs121918355, rs777661862, rs1566628109, rs1566636728, rs387907174, rs387907175	RCV001806717 RCV000024324 RCV000007994 RCV000024325 RCV000024326 RCV000024327 RCV000024328	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary open angle glaucoma	Likely pathogenic	rs137854858	RCV000114806	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Weill-Marchesani syndrome 1	Pathogenic	rs137854856	RCV000114810	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Weill-Marchesani syndrome 3	Likely pathogenic; Pathogenic	rs1327636983, rs924495842, rs137854856	RCV002507788 RCV005356244 RCV000030740	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Alveolar capillary dysplasia without misalignment of pulmonary veins	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL GLAUCOMA	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL KERATOGLOBUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectopia lentis 1, isolated, autosomal dominant	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA 3, PRIMARY CONGENITAL, A	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA SECONDARY TO SPHEROPHAKIA/ECTOPIA LENTIS AND MEGALOCORNEA	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPHTHALMOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary congenital glaucoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pseudoexfoliation glaucoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weill-Marchesani syndrome	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations