LMX1B (LIM homeobox transcription factor 1 beta)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
4010 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
LIM homeobox transcription factor 1 beta |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
LMX1B |
SynonymsGene synonyms aliases
|
FSGS10, LMX1.2, NPS1 |
ChromosomeChromosome number
|
9 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
9q33.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs121909486 |
C>A,T |
Pathogenic |
Coding sequence variant, synonymous variant, missense variant |
rs121909487 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs121909488 |
G>T |
Pathogenic |
Coding sequence variant, missense variant |
rs121909490 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs121909491 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs121909492 |
C>G,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained, missense variant |
rs886039576 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
rs1056252582 |
G>A,C |
Pathogenic |
Coding sequence variant, missense variant |
rs1114167362 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1191455921 |
G>A,C |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
rs1427331961 |
G>A,T |
Pathogenic |
Splice donor variant |
rs1554728698 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs1564169730 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1588307152 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
rs1588307460 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1588307464 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1588307477 |
G>C,T |
Pathogenic |
Coding sequence variant, missense variant |
rs1588307482 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1588307486 |
ACCAAA>- |
Pathogenic |
Coding sequence variant, inframe deletion |
rs1588307501 |
G>A |
Pathogenic |
Splice donor variant |
rs1588309269 |
TGGCTTCCTA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1588309277 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1588309293 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
O60663 |
Protein name |
LIM homeobox transcription factor 1-beta (LIM/homeobox protein 1.2) (LMX-1.2) (LIM/homeobox protein LMX1B) |
Protein function |
Transcription factor involved in the regulation of podocyte-expressed genes (PubMed:24042019, PubMed:28059119). Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels. {ECO:0000269|PubMed:24042019, ECO:00 |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00412 |
LIM |
56 → 111 |
LIM domain |
Domain |
PF00412 |
LIM |
115 → 173 |
LIM domain |
Domain |
PF00046 |
Homeodomain |
220 → 276 |
Homeodomain |
Domain |
|
Sequence |
|
Sequence length |
402 |
Interactions |
View interactions |
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Anonychia |
ANONYCHIA |
rs74315420, rs74315421, rs74315422, rs74315423, rs387907026, rs387907027, rs387907028, rs780261665, rs775644973, rs370554150 |
|
Arthritis |
Degenerative polyarthritis |
rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 |
|
Breast carcinoma |
Breast Carcinoma |
rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038 |
29059683 |
Cataract |
Cataract |
rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692 |
|
Focal segmental glomerulosclerosis |
Focal Segmental Glomerulosclerosis, Not Otherwise Specified |
rs267606877, rs267607183, rs267606878, rs267606879, rs267606880, rs121907909, rs74315343, rs121908415, rs121908416, rs121908417, rs1554181304, rs121434390, rs121434392, rs121434393, rs121434394, rs121434395, rs387906807, rs778868018, rs397517920, rs386833865, rs1131692055, rs587777741, rs1184529372, rs76492282, rs75462234, rs202128397, rs879255251, rs879255252, rs749740335, rs138656762, rs869025541, rs878853159, rs1393955970, rs748812981, rs1566778651, rs866294686, rs1566777560, rs1566778676, rs1568723797, rs1568725026, rs1569534160, rs1589475328, rs912928648, rs79555199, rs1595166085, rs1596351849, rs1596861969, rs1595163730, rs1588200023, rs779586424, rs759356936, rs1451194842, rs1317776692, rs759055242, rs2066568818 |
24042019 |
Glaucoma |
Glaucoma, Glaucoma, Open-Angle |
rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644 |
30054594, 29891935 |
Glomerulonephritis |
Glomerulonephritis |
rs778043831 |
|
Hearing loss |
Sensorineural Hearing Loss (disorder) |
rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060 |
|
Hyperlipidemia |
Hyperlipidemia |
rs118204057, rs118204060, rs118204062, rs1563569634, rs118204069, rs118204070, rs118204071, rs3737787, rs2073658, rs1566946168, rs1064797075 |
20199424 |
Hypertension |
Hypertensive disease |
rs13306026, rs13333226 |
|
Keratoconus |
Keratoconus |
rs273585637, rs273585632, rs273585616, rs273585618, rs281865144, rs281865150, rs1553500862, rs756938019 |
|
Kidney disease |
Kidney Diseases |
rs74315342, rs749740335, rs757649673, rs112417755, rs35138315 |
|
Leukemia |
Leukemia, Myelocytic, Acute |
rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601 |
27903959 |
Nail-patella syndrome |
Nail-Patella Syndrome |
rs121909486, rs121909487, rs121909488, rs121909489, rs121909490, rs121909491, rs1427331961, rs121909492, rs864621969, rs886039576, rs1057516196, rs1114167362, rs1554721879, rs1554728698, rs1191455921, rs1564143881, rs1564169730, rs1588307152, rs1588309277, rs1588307464, rs1588307482, rs1588309269, rs1588309293, rs1588257904, rs1588307460, rs1588307477, rs1588307486, rs1588307501, rs1056252582 |
18414507, 19147669, 26380986, 20199424, 9618165, 2012138, 9837817, 11668639, 9590287, 24042019, 10571942 |
Nephrotic syndrome |
Nephrotic Syndrome |
rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391 |
|
Neurodevelopmental disorders |
Neurodevelopmental Disorders |
rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330, rs1595127294, rs1600392059 |
20199424 |
Osteochondrodysplasia |
Osteochondrodysplasias |
rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061 |
|
Renal insufficiency |
Renal Insufficiency |
rs1596536873 |
|
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
20570600 |
Scoliosis |
Scoliosis, unspecified |
rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085 |
|
Skeletal dysplasia |
Skeletal dysplasia |
rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098 |
|
Vasculitis |
Vasculitis |
rs376785840, rs587777240, rs200930463, rs587777241, rs77563738, rs202134424, rs148936893, rs587777242, rs775440641, rs770689762, rs45511697, rs139750129, rs756881285, rs747774101, rs1568966771, rs766602945, rs1601419986, rs1489114116, rs754904956, rs755007390, rs368615054 |
|
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
9q33.3q34.11 microdeletion syndrome |
9q33.3q34.11 microdeletion syndrome |
|
|
Cubitus valgus |
Acquired cubitus valgus |
|
|
Behavior disorders |
Behavior Disorders |
rs28914832, rs748194758, rs7224199, rs3813034, rs886052778, rs199601052, rs200528841, rs138004662, rs140699, rs886052781, rs6354, rs886052782, rs199876421, rs56138846, rs200506079, rs886052774, rs185569563, rs886052777, rs181130006, rs200363238, rs567262768, rs201053633, rs200633071, rs56110451, rs114814153, rs28914831, rs45541837, rs25533, rs886052784, rs201844395, rs746067804, rs56140935, rs185658988, rs886052775, rs886052776, rs55823902, rs1042173, rs886052779, rs6352, rs6353, rs200861334, rs55908624, rs886052780, rs201073368, rs34845320, rs199890541, rs763069645, rs202111661, rs886052783, rs74845752, rs41274284 |
20199424 |
Camptodactyly of fingers |
Clinodactyly of the 5th finger |
|
|
Congenital clubfoot |
Congenital clubfoot |
|
19147669 |
Congenital pectus excavatum |
Congenital pectus excavatum |
|
|
Dwarfism |
Dwarfism |
|
|
Glomerulosclerosis |
Focal glomerulosclerosis |
|
24042019 |
Hypoplasia of rib |
Hypoplasia of first ribs |
|
|
Insomnia |
Chronic Insomnia, Primary Insomnia |
|
20199424 |
Kidney failure |
Kidney Failure |
|
24042019 |
Mental disorders |
Mental disorders, Mental Disorders, Severe |
|
20199424 |
Microcornea |
Microcornea |
|
|
Microphakia |
Microphakia |
|
|
Nail patella-like renal disease |
Nail-patella-like renal disease, Salcedo syndrome |
|
25713721, 24042019 |
Nonorganic insomnia |
Nonorganic Insomnia |
|
20199424 |
Osteoarthritis of hip |
Osteoarthritis of hip |
|
30374069, 30664745 |
Psychophysiological insomnia |
Psychophysiological Insomnia |
|
20199424 |
Ptosis |
Blepharoptosis, Ptosis |
rs139920573 |
|
Renal glomerular disease |
Renal glomerular disease |
|
|
Sleep disorders |
Sleep Initiation and Maintenance Disorders, Sleep Initiation Dysfunction |
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20199424 |
Spina bifida |
Spina Bifida |
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