LTBP3 (latent transforming growth factor beta binding protein 3)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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4054 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Latent transforming growth factor beta binding protein 3 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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LTBP3 |
SynonymsGene synonyms aliases
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DASS, GPHYSD3, LTBP-3, LTBP2, STHAG6, pp6425 |
ChromosomeChromosome number
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11 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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11q13.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs121909145 |
G>A,C |
Pathogenic |
Coding sequence variant, stop gained, synonymous variant, non coding transcript variant |
rs145001056 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
rs752375653 |
C>-,CC |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
rs796052116 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
rs875989822 |
TTTGAGCCGGTAGC>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
rs875989823 |
C>A |
Pathogenic |
Splice donor variant |
rs875989824 |
C>- |
Pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
rs878853036 |
G>A |
Pathogenic |
Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant, intron variant |
rs878853262 |
->C |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
rs1064794603 |
GC>AG |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs1188540819 |
C>T |
Pathogenic |
Intron variant |
rs1286042594 |
C>- |
Pathogenic |
Non coding transcript variant, frameshift variant, 5 prime UTR variant, coding sequence variant |
rs1554973844 |
C>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q9NS15 |
Protein name |
Latent-transforming growth factor beta-binding protein 3 (LTBP-3) |
Protein function |
Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Associates specifically via disulfide bonds with the Latency-a |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00683 |
TB |
289 → 327 |
TB domain |
Family |
PF07645 |
EGF_CA |
355 → 394 |
Calcium-binding EGF domain |
Domain |
PF00683 |
TB |
414 → 458 |
TB domain |
Family |
PF12662 |
cEGF |
596 → 619 |
Complement Clr-like EGF-like |
Domain |
PF07645 |
EGF_CA |
660 → 701 |
Calcium-binding EGF domain |
Domain |
PF07645 |
EGF_CA |
703 → 742 |
Calcium-binding EGF domain |
Domain |
PF12662 |
cEGF |
765 → 788 |
Complement Clr-like EGF-like |
Domain |
PF12661 |
hEGF |
795 → 815 |
Human growth factor-like EGF |
Domain |
PF12662 |
cEGF |
847 → 869 |
Complement Clr-like EGF-like |
Domain |
PF12661 |
hEGF |
877 → 898 |
Human growth factor-like EGF |
Domain |
PF00683 |
TB |
928 → 974 |
TB domain |
Family |
PF07645 |
EGF_CA |
993 → 1034 |
Calcium-binding EGF domain |
Domain |
PF07645 |
EGF_CA |
1036 → 1075 |
Calcium-binding EGF domain |
Domain |
PF07645 |
EGF_CA |
1082 → 1121 |
Calcium-binding EGF domain |
Domain |
PF00683 |
TB |
1147 → 1189 |
TB domain |
Family |
PF07645 |
EGF_CA |
1254 → 1297 |
Calcium-binding EGF domain |
Domain |
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Sequence |
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Sequence length |
1303 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Acromicric dysplasia |
Acromicric Dysplasia |
rs387906622, rs387906623, rs387906624, rs1131692052, rs387906626, rs587776863, rs1064797059, rs363806, rs1060501041, rs1555400049 |
27068007 |
Amelogenesis imperfecta |
Amelogenesis Imperfecta |
rs267607178, rs143816093, rs606231351, rs137854435, rs137854440, rs137854441, rs137854444, rs587776587, rs121908109, rs587776588, rs140213840, rs104894704, rs387906487, rs387906488, rs387906489, rs104894733, rs104894734, rs104894736, rs387906490, rs387906491, rs104894737, rs104894738, rs144411158, rs587776911, rs587776912, rs587776913, rs587776914, rs387907215, rs866941536, rs1560562738, rs1560562630, rs146645381, rs1560558455, rs587777515, rs587777516, rs587777530, rs139620139, rs587777531, rs587777535, rs587777536, rs587777537, rs606231462, rs1553275034, rs869320671, rs786201004, rs140015315, rs730882118, rs730880297, rs730880298, rs786204825, rs786204826, rs1555409827, rs1057517671, rs1057517672, rs556734208, rs146238585, rs202073531, rs1057519277, rs767907487, rs779823931, rs1060499539, rs1085307111, rs546603773, rs1553275070, rs1553275195, rs752102959, rs1554623490, rs1553888384, rs770804941, rs1553887511, rs557128345, rs1568724130, rs199527325, rs1603038146, rs773117913, rs1560973571, rs1560782372, rs1560980659, rs1560973467, rs772929908, rs762816338, rs1565222166, rs1595312054, rs1866200282, rs2086254952 |
28084688, 25669657 |
Arthritis |
Degenerative polyarthritis |
rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 |
12379497, 11790802 |
Brachydactyly |
Brachydactyly |
rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142 |
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Brachyolmia-amelogenesis imperfecta syndrome |
Brachyolmia-amelogenesis imperfecta syndrome |
rs121909145, rs878853262, rs875989822, rs796052116, rs875989823, rs752375653, rs875989824, rs878853036, rs1286042594 |
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Epiphyseal dysplasia |
Epiphyseal dysplasia |
rs137852652, rs28936668, rs1600786629, rs1600786748, rs606231367, rs1569763139, rs1569763108, rs1085307973, rs1555821817 |
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Geleophysic dysplasia |
Geleophysic dysplasia, GELEOPHYSIC DYSPLASIA 3 |
rs113994121, rs113994122, rs113994124, rs113994125, rs387906622, rs387906623, rs387906624, rs387906625, rs387907064, rs387907065, rs775621284, rs1131691804, rs1554971742, rs1188540819, rs1566902569, rs761886575 |
27068007 |
Mitral valve prolapse |
Mitral Valve Prolapse Syndrome |
rs768737101 |
25899461 |
Oligodontia |
Oligodontia |
rs1591901585 |
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Tooth agenesis |
Tooth Agenesis, Selective, 6, Tooth Agenesis, Familial |
rs121908119, rs121908121, rs1881345182, rs104894467, rs28933970, rs2139108031, rs28933971, rs28933972, rs1594475481, rs2139106532, rs2139108874, rs121917720, rs121913129, rs104893852, rs104893850, rs121913130, rs1553877821, rs782540538, rs318240759, rs515726227, rs587776350, rs864309647, rs864309649, rs869320640, rs869320636, rs866789963, rs869320639, rs869320637, rs779326570, rs766021478, rs372993798, rs1057519288, rs1555316697, rs1131692057, rs1565611848, rs745522921, rs773036759 |
19344874, 25899461 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Anodontia |
Developmental absence of tooth |
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19344874, 25899461 |
Bone disease |
Bone Diseases |
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19344874 |
Brachyolmia |
Brachyolmia |
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25669657 |
Dwarfism |
Dwarfism |
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Hypertrichosis |
Hypertrichosis |
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Hypodontia |
Hypodontia |
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25899461, 19344874 |
Mental depression |
Major Depressive Disorder |
rs587778876, rs587778877 |
30718901 |
Microdontia |
Microdontia (disorder) |
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Microstomia |
Microstomia |
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Osteoarthritis of hip |
Osteoarthritis of hip |
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30664745, 30374069 |
Osteoarthrosis deformans |
Osteoarthrosis Deformans |
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12379497, 11790802 |
Osteosclerosis |
Osteosclerosis |
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11790802, 12379497 |
Respiratory failure |
Respiratory Failure |
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Sleep apnea |
Sleep Apnea Syndromes |
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Tracheal stenosis |
Tracheal Stenosis |
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Dental anomalies and short stature |
Verloes Bourguignon syndrome |
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25669657, 28084688 |
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