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LTBP3 (latent transforming growth factor beta binding protein 3)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4054
Gene nameGene Name - the full gene name approved by the HGNC.
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.
LTBP3
SynonymsGene synonyms aliases
DASS, GPHYSD3, LTBP-3, LTBP2, STHAG6, pp6425
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.1
SummarySummary of gene provided in NCBI Entrez Gene.
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.
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
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT045534 hsa-miR-149-5p CLASH 23622248
MIRT045534 hsa-miR-149-5p CLASH 23622248
MIRT040731 hsa-miR-92b-3p CLASH 23622248
MIRT035867 hsa-miR-1249-3p CLASH 23622248
MIRT1122172 hsa-miR-1276 CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 27339457
GO:0005576 Component Extracellular region HDA 27068509
GO:0005576 Component Extracellular region TAS
GO:0007179 Process Transforming growth factor beta receptor signaling pathway IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
Sequence
MPGPRGAAGGLAPEMRGAGAAGLLALLLLLLLLLLGLGGRVEGGPAGERGAGGGGALARE
RFKVVFAPVICKRTCLKGQCRDSCQQGSNMTLIGENGHSTDTLTGSGFRVVVCPLPCMNG
GQCSSRNQCLCPPDFTGRFCQVPAGGAGGGTGGSGPGLSRTGALSTGALPPLAPEGDSVA
SKHAIYAVQVIADPPGPGEGPPAQHAAFLVPLGPGQISAEVQAPPPVVNVRVHHPPEASV
QVHRIESSNAESAAPSQHLLPHPKPSHPRPPTQKPLGRCFQDTLPKQPCGSNPLPGLTKQ
EDCCGSIGTAWGQSKCHKCPQLQYTGV
QKPGPVRGEVGADCPQGYKRLNSTHCQDINECA
MPGVCRHGDCLNNPGSYRCVCPPGHSLGPSRTQC
IADKPEEKSLCFRLVSPEHQCQHPLT
TRLTRQLCCCSVGKAWGARCQRCPTDGTAAFKEICPAG
KGYHILTSHQTLTIQGESDFSL
FLHPDGPPKPQQLPESPSQAPPPEDTEEERGVTTDSPVSEERSVQQSHPTATTTPARPYP
ELISRPSPPTMRWFLPDLPPSRSAVEIAPTQVTETDECRLNQNICGHGECVPGPPDYSCH
CNPGYRSHPQHRYCVDVNE
CEAEPCGPGRGICMNTGGSYNCHCNRGYRLHVGAGGRSCVD
LNECAKPHLCGDGGFCINFPGHYKCNCYPGYRLKASRPPVC
EDIDECRDPSSCPDGKCEN
KPGSFKCIACQPGYRSQGGGAC
RDVNECAEGSPCSPGWCENLPGSFRCTCAQGYAPAPDG
RSCLDVDE
CEAGDVCDNGICSNTPGSFQCQCLSGYHLSRDRSHCEDIDECDFPAACIGGD
CINTNGSYRCLCPQGHRLVGGRKCQDIDECSQDPSLCLPHGACKNLQGSYVCVCDEGFTP
TQDQHGCEEVEQPHHKKECYLNFDDTVFCDSVLATNVTQQECCCSLGAGWGDHCEIYPCP
VYSSAEFHSLCPDG
KGYTQDNNIVNYGIPAHRDIDECMLFGSEICKEGKCVNTQPGYECY
CKQGFYYDGNLLEC
VDVDECLDESNCRNGVCENTRGGYRCACTPPAEYSPAQRQCLSPEE
MDVDECQDPAACRPGRCVNLPGSYRCECRPPWVPGPSGRDCQLPESPAERAPERRDVCWS
QRGEDGMCAGPLAGPALTFDDCCCRQGRGWGAQCRPCPPRGAGSHCPTSQSESNSFWDTS
PLLLGKPPRDEDSSEEDSDECRCVSGRCVPRPGGAVCECPGGFQLDASRARCVDIDECRE
LNQRGLLCKSERCVNTSGSFRCVCKAGFARSRPHGAC
VPQRRR
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.
 
Reactome
    Molecules associated with elastic fibres
Associated diseases
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
Unknown
Disease name Disease term dbSNP ID References
Anodontia Developmental absence of tooth 19344874, 25899461
Bone disease Bone Diseases 19344874
Brachyolmia Brachyolmia 25669657
Dwarfism Dwarfism

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