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LMNB1 (lamin B1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4001
Gene nameGene Name - the full gene name approved by the HGNC.
Lamin B1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
LMNB1
SynonymsGene synonyms aliases
ADLD, ADLDAT, LMN, LMN2, LMNB, MCPH26
ChromosomeChromosome number
5
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q23.2
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes one of the two B-type lamin proteins and is a component of the nuclear lamina. A duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). Alternative splicing results in multiple transcript varian
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT002510 hsa-miR-373-3p Microarray 15685193
MIRT002510 hsa-miR-373-3p Microarray;Other 15685193
MIRT022094 hsa-miR-128-3p Sequencing 20371350
MIRT002571 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT002571 hsa-miR-124-3p Microarray 15685193
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005198 Function Structural molecule activity TAS 7557986
GO:0005515 Function Protein binding IPI 21346760, 21988832, 25158218, 26496610, 26524528, 29568061, 29997244, 30021884, 31467278, 32296183, 32814053
GO:0005634 Component Nucleus IDA 10791971
GO:0005635 Component Nuclear envelope IDA 21610090
GO:0005635 Component Nuclear envelope TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P20700
Protein name Lamin-B1
Protein function Lamins are intermediate filament proteins that assemble into a filamentous meshwork, and which constitute the major components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane (PubMed:28716252, PubMe
PDB 2KPW , 3JT0 , 3TYY , 3UMN , 5BNW , 5VVX , 7DTG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00038 Filament
31 387
Intermediate filament protein
Coiled-coil
PF00932 LTD
435 545
Lamin Tail Domain
Domain
Sequence
Sequence length 586
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.
 
KEGG
 
Reactome
  Apoptosis
Cytoskeleton in muscle cells
  Formation of Senescence-Associated Heterochromatin Foci (SAHF)
Nuclear Envelope Breakdown
Initiation of Nuclear Envelope (NE) Reformation
Breakdown of the nuclear lamina
Depolymerisation of the Nuclear Lamina
Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Cockayne syndrome Cockayne-Pelizaeus-Merzbacher Disease rs121917900, rs121917901, rs121917902, rs387906262, rs2132552521, rs121917903, rs1590474873, rs121917904, rs121434323, rs121434324, rs121434325, rs121434326, rs121913028, rs185142838, rs527236039, rs786205176, rs786205175, rs765825423, rs786205174, rs786205173, rs786205172, rs786205171, rs786205170, rs373227647, rs4253196, rs151242354, rs774791374, rs202080674, rs786205169, rs767247987, rs786205167, rs371739894, rs786205168, rs786205166, rs368728467, rs797045562, rs751838040, rs143367518, rs1043679457, rs1554073177, rs199754807, rs1131691783, rs772801089, rs751292948, rs1554875536, rs906755254, rs1482664387, rs1305258765, rs1554073117, rs1554073175, rs201464610, rs1468231556, rs1404477615, rs774047625, rs1554076239, rs897535441, rs1554073420, rs1554074597, rs1476095782, rs372237310, rs1554072713, rs1554073316, rs774542633, rs1198241866, rs766980240, rs1441655600, rs751448793, rs754978734, rs771781694, rs577021605, rs748379243, rs770499406, rs1564725764, rs1580023012, rs1561502158, rs148393161, rs1590406503, rs1010201937, rs1580007152, rs370657735, rs780538788, rs1851015811, rs1272960343, rs1850531575
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Dysautonomia Autonomic bladder dysfunction rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086, rs1554703061, rs1554703613, rs1319053366, rs1554703851, rs868073099, rs926177767, rs376078668, rs1554695299, rs1554696648, rs1554696934, rs1554699327, rs1554691572, rs1554695846, rs1554697001, rs770668926, rs1554698037, rs759412460, rs1554702142, rs765572951, rs1554702880, rs1554703831, rs760774999, rs1554696650, rs757972943, rs1554703874, rs1554703907, rs571348995
Hypomyelinating leukodystrophy Pelizaeus-Merzbacher Disease, Atypical, Pelizaeus-Merzbacher Disease, Transitional rs74315311, rs74315312, rs796065027, rs74315313, rs74315314, rs796065028, rs796065029, rs132630292, rs72466451, rs387906865, rs587776888, rs191582628, rs141156009, rs587776983, rs483352809, rs397514734, rs587777428, rs587777429, rs587777467, rs587777468, rs672601372, rs672601373, rs672601374, rs672601375, rs369398935, rs724159969, rs761635539, rs372781135, rs876657403, rs796052124, rs796052125, rs796052126, rs796052127, rs797045074, rs767399782, rs34757931, rs202003795, rs869312968, rs780663139, rs752127949, rs878853083, rs879253867, rs886037931, rs886037932, rs758595075, rs886037933, rs886039470, rs886039904, rs886041021, rs886041019, rs886041018, rs886041013, rs886041011, rs886041010, rs886041007, rs886041661, rs763593155, rs886041240, rs751575036, rs886043378, rs1064792894, rs1057519455, rs1057519456, rs769713780, rs1064793505, rs1064795865, rs1085307499, rs529613640, rs149587849, rs1131691696, rs1553500497, rs1356633840, rs748787734, rs747359907, rs763737931, rs898824971, rs1553318956, rs1474000585, rs1554310600, rs1473859981, rs1554131502, rs1033946108, rs1568409626, rs750731609, rs1564617866, rs1305006253, rs770637715, rs1255115751, rs1582181247, rs770857344, rs773388338, rs1156407486, rs751006626, rs767639108, rs1582184344, rs1582177745, rs1571908452, rs1239964151, rs1599405952, rs886041015, rs2086193735, rs1375875748, rs1671863383, rs1671854827, rs1302747902, rs1571908056
Unknown
Disease name Disease term dbSNP ID References
Atrophy of corpus callosum Atrophy of corpus callosum
Atrophy of the spinal cord Atrophy of the spinal cord
Cerebral cortical atrophy Cerebral cortical atrophy
Demyelinating leukodystrophy Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant rs2230151, rs36105360, rs3749830, rs61726489, rs34224885, rs561989552, rs886059858, rs6875053, rs755177047, rs74362780, rs886059859, rs140296800, rs185784874, rs761208282, rs77429268, rs200907573, rs372510778, rs181936031, rs111865788, rs886059857, rs142016804, rs746416284, rs201050320, rs1051643, rs1051644 21909802, 24357685, 21225301, 23649844

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