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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
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT656719 hsa-miR-4512 HITS-CLIP 23824327
MIRT656717 hsa-miR-3918 HITS-CLIP 23824327
MIRT656718 hsa-miR-1224-3p HITS-CLIP 23824327
MIRT656716 hsa-miR-6734-3p HITS-CLIP 23824327
MIRT656715 hsa-miR-4297 HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA 21873635
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding ISS
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
MDIATGPESLERCFPRGQTDCAKMLDGIKMEEHALRPGPATLGVLLGSDCPHPAVCEGCQ
RPISDRFLMRVNESSWHEECLQCAACQQALTTSCYFRDRKLYCKQDYQQLF
AAKCSGCME
KIAPTEFVMRALECVYHLGCFCCCVCERQLRKGDEFVLKEGQLLCKGDYEKEK
DLLSSVS
PDESDSVKSEDEDGDMKPAKGQGSQSKGSGDDGKDPRRPKRPRTILTTQQRRAFKASFEV
SSKPCRKVRETLAAETGLSVRVVQVWFQNQRAKMKK
LARRHQQQQEQQNSQRLGQEVLSS
RMEGMMASYTPLAPPQQQIVAMEQSPYGSSDPFQQGLTPPQMPGDHMNPYGNDSIFHDID
SDTSLTSLSDCFLGSSDVGSLQARVGNPIDRLYSMQSSYFAS
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
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

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