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LMOD3 (leiomodin 3)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56203
Gene nameGene Name - the full gene name approved by the HGNC.
Leiomodin 3
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
LMOD3
SynonymsGene synonyms aliases
NEM10
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p14.1
SummarySummary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the leiomodin family of proteins. This protein contains three actin-binding domains, a tropomyosin domain, a leucine-rich repeat domain, and a Wiskott-Aldrich syndrome protein homology 2 domain (WH2). Locali
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs199655993 C>A,T Pathogenic Coding sequence variant, missense variant
rs724159964 G>A Pathogenic Stop gained, coding sequence variant
rs724159965 C>A Pathogenic Stop gained, coding sequence variant
rs727502797 ->G Pathogenic Coding sequence variant, frameshift variant
rs727502798 GTT>- Pathogenic Coding sequence variant, inframe deletion
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT017341 hsa-miR-335-5p Microarray 18185580
MIRT674280 hsa-miR-483-5p HITS-CLIP 23824327
MIRT674279 hsa-miR-3976 HITS-CLIP 23824327
MIRT674278 hsa-miR-4755-3p HITS-CLIP 23824327
MIRT515116 hsa-miR-193b-5p HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0003785 Function Actin monomer binding IMP 25250574
GO:0005515 Function Protein binding IPI 32296183
GO:0005523 Function Tropomyosin binding IBA 21873635
GO:0005523 Function Tropomyosin binding IMP 25250574
GO:0005737 Component Cytoplasm IDA 25250574
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q0VAK6
Protein name Leiomodin-3 (Leiomodin, fetal form)
Protein function Essential for the organization of sarcomeric actin thin filaments in skeletal muscle (PubMed:25250574). Increases the rate of actin polymerization (PubMed:25250574).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03250 Tropomodulin
7 → 174
Tropomodulin
 Family
Sequence 
MSEHSRNSDQEELLDEEINEDEILANLSAEELKELQSEMEVMAPDPSLPVGMIQKDQTDK
PPTGNFNHKSLVDYMYWEKASRRMLEEERVPVTFVKSEEKTQEEHEEIEKRNKNMAQYLK
EKLNNEIVANKRESKGSSNIQETDEEDEEEEDDDDDDEGEDDGEESEETNREEEGKAKEQ
IRNCENNCQQVTDKAFKEQRDRPEAQEQSEKKISKLDPKKLALDTSFLKVSTRPSGNQTD
LDGSLRRVRKNDPDMKELNLNNIENIPKEMLLDFVNAMKKNKHIKTFSLANVGADENVAF
ALANMLRENRSITTLNIESNFITGKGIVAIMRCLQFNETLTELRFHNQRHMLGHHAEMEI
ARLLKANNTLLKMGYHFELPGPRMVVTNLLTRNQDKQRQKRQEEQKQQQLKEQKKLIAML
ENGLGLPPGMWELLGGPKPDSRMQEFFQPPPPRPPNPQNVPFSQRSEMMKKPSQAPKYRT
DPDSFRVVKLKRIQRKSRMPEAREPPEKTNLKDVIKTLKPVPRNRPPPLVEITPRDQLLN
DIRHSSVAYLKPVQLPKELA
Sequence length 560
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
  Cytoskeleton in muscle cells  
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Arthrogryposis multiplex congenita Arthrogryposis rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627
Myopathy Myopathy rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Nemaline myopathy NEMALINE MYOPATHY 10, Typical nemaline myopathy rs80358250, rs80358249, rs121964854, rs1057515573, rs1057515574, rs121913662, rs1057515575, rs1364598710, rs387907090, rs397509419, rs367579275, rs397509420, rs397509421, rs398124167, rs398124172, rs587780271, rs587780272, rs587780397, rs587780399, rs727502797, rs724159964, rs727502799, rs724159965, rs730882257, rs730882258, rs730882235, rs730882259, rs730882260, rs786204576, rs786204430, rs769345284, rs794727136, rs797045098, rs797045735, rs797044606, rs869312740, rs878854368, rs555445835, rs762278237, rs758105619, rs886041851, rs755239192, rs80344795, rs886043631, rs773952935, rs112610938, rs1057516676, rs1057516348, rs1057516996, rs1057516758, rs1057517317, rs780022652, rs1057516381, rs1057517399, rs1057516938, rs1057516739, rs1057517360, rs1057518200, rs1057517977, rs1057519128, rs1057519129, rs375145370, rs1057524581, rs758188096, rs1131691547, rs1553255357, rs754272530, rs1553255362, rs1553526884, rs1553564693, rs1553605995, rs1386238241, rs200731870, rs747179265, rs1330332139, rs1553740233, rs776569219, rs781185019, rs375628303, rs1553862061, rs1553934562, rs1553484601, rs775631800, rs781667543, rs1553556154, rs1553770146, rs1553875421, rs1553896522, rs1553469514, rs1553548666, rs1426709672, rs1274699363, rs1555855228, rs928945364, rs763364977, rs1458048713, rs191579691, rs1472403020, rs761232641, rs1336053002, rs202048855, rs1197561990, rs755531536, rs762133567, rs1553555882, rs1371849916, rs934111355, rs934955715, rs1553862274, rs113326313, rs1255744452, rs1553502168, rs139588377, rs752493018, rs1555859304, rs866309952, rs1191429915, rs112687345, rs1421095081, rs1553548207, rs752582527, rs1257495033, rs1553603690, rs1553623367, rs1553627466, rs1488066635, rs1553519860, rs113525641, rs1553526619, rs1553642332, rs1553646540, rs755863625, rs1553679273, rs1553688242, rs1337287633, rs1332061304, rs1553715579, rs374929094, rs539819851, rs1553518813, rs1553519124, rs1553520609, rs1553548771, rs1553891733, rs1366853918, rs1218073575, rs1553537512, rs1553548752, rs1553552384, rs1553530144, rs1553551650, rs747564597, rs1553915731, rs1390379576, rs776059611, rs756726488, rs1357811155, rs1553555768, rs1553536267, rs1553939284, rs1553939600, rs113290650, rs772009599, rs1255445731, rs1266535163, rs1553561525, rs1011425121, rs193042896, rs1423137705, rs1553561665, rs1553548018, rs1553561697, rs1553948395, rs1553551748, rs1553963973, rs1553552413, rs1553556275, rs1553561211, rs1553615846, rs781120931, rs760935667, rs755970391, rs765403861, rs1553603400, rs1302373559, rs1553603438, rs1389892619, rs1553710982, rs757157808, rs1180407562, rs1553644243, rs1553983416, rs1553990438, rs1446930968, rs1553755829, rs1553757097, rs1180339426, rs557870969, rs1553468960, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553517128, rs1553678967, rs1553695209, rs1553695557, rs1553538835, rs1553934597, rs1553539777, rs1553939660, rs1553557405, rs1553939774, rs1185654671, rs1242775893, rs143644938, rs1553717306, rs1553963960, rs1553686994, rs1373493309, rs1553448527, rs1553694860, rs1553603437, rs1553457607, rs1553603933, rs1553763404, rs1475648900, rs1553769576, rs1553487838, rs749452641, rs760082702, rs767693366, rs1553904694, rs111300270, rs1553930053, rs1553939648, rs754369875, rs1553770178, rs112517981, rs1553886582, rs774495973, rs1553512813, rs1342507012, rs1428597732, rs1553939806, rs746999970, rs1553901249, rs1553933986, rs1553947423, rs1553938571, rs1553964158, rs113091511, rs1553472127, rs1553962493, rs1553565278, rs756363951, rs1553579092, rs1553593177, rs1553603958, rs1553468939, rs1553607505, rs1553469502, rs770797137, rs1553495140, rs1553608621, rs1159756073, rs776167256, rs1553642811, rs1553501889, rs1553542669, rs1553558398, rs1220787593, rs374562457, rs1553689057, rs778593702, rs1553568167, rs1553580540, rs1553586486, rs1553601066, rs750585238, rs752893483, rs1553689774, rs1560283028, rs1559580467, rs1560031341, rs1559296376, rs201636991, rs1559039815, rs775513051, rs1559534672, rs748922882, rs112544116, rs780343350, rs772366030, rs1247404453, rs1186218257, rs2085385176, rs1156410888, rs1259297878, rs762780413, rs1559360386, rs1037388276, rs1559940778, rs760200697, rs1344099907, rs750900690, rs777819332, rs1559573882, rs1559168230, rs761067911, rs1574981296, rs1323364980, rs537560378, rs752267876, rs1576695735, rs370098540, rs1577244250, rs1577886635, rs1577890764, rs555516831, rs1578011278, rs1553862114, rs1319778592, rs1560499498, rs1574014358, rs1574526903, rs776982138, rs1574820458, rs1575122070, rs1575295628, rs1575358650, rs1576517390, rs1576600442, rs1576704575, rs1577548638, rs1340063197, rs1574349645, rs1288106608, rs752734208, rs1575218831, rs1574772311, rs1576819152, rs1458096844, rs1577833924, rs1577636079, rs1578868550, rs1574741105, rs1575219191, rs1405498595, rs1575024425, rs1577253760, rs756352186, rs1368453406, rs199655993, rs1594784544, rs1559207733, rs1575305566, rs1575714905, rs1576203853, rs1392500142, rs779909544, rs1575218072, rs1599875856, rs1575668113, rs753417634, rs552379239, rs778303947, rs1212374733, rs1490309743, rs767709270, rs769824247, rs1374971806, rs781754253, rs1553545126, rs2079459982, rs2084059565, rs2084217268, rs2093334853, rs2096491549, rs2096504394, rs2097449114, rs2097452910, rs1578869371, rs1326513178, rs2097713802, rs2097759896, rs2097886912, rs2098013713, rs763541152, rs2098910159, rs2098919758, rs2099021112, rs2099075936, rs2099082250, rs2099118606, rs2099191297, rs757999917, rs2099785680, rs778022582, rs1177405905, rs2097571378, rs2099350888, rs2097758221, rs1553711195, rs747946275, rs2099076059, rs2085439767, rs2085575423, rs925947627 28815944, 25250574, 25774500, 24960163, 26035871, 30291184
Hypotonia Neonatal Hypotonia rs141138948, rs397517172, rs869312824, rs1583169151
Unknown
Disease name Disease term dbSNP ID References
Bulbar palsy Bulbar palsy
Pulmonary hypoplasia Congenital hypoplasia of lung rs1569032634
Congenital nemaline myopathy Severe congenital nemaline myopathy
Congenital pectus excavatum Congenital pectus excavatum

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