Property Summary

NCBI Gene PubMed Count 71
PubMed Score 321.94
PubTator Score 254.23

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (8)

Disease Target Count P-value
breast carcinoma 1614 1.19093007074713E-18
posterior fossa group A ependymoma 1511 1.83198810768565E-17
lung carcinoma 2844 2.35739548394263E-16
Duchenne muscular dystrophy 602 1.65072729845786E-8
acute quadriplegic myopathy 1157 2.01187262458414E-7
ovarian cancer 8492 5.84817519438243E-5
lung cancer 4473 1.15843801507696E-4
sonic hedgehog group medulloblastoma 1482 2.06637390222548E-4
limb girdle muscular dystrophy 2A 156 2.28182788166126E-4
psoriasis 6685 3.03083698987273E-4
autosomal dominant Emery-Dreifuss muscular dystrophy 499 0.00106237722530941
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.00226525933728752
intraductal papillary-mucinous adenoma (IPMA) 2956 0.00231550146487229
Atopic dermatitis 944 0.00376864926731057
invasive ductal carcinoma 2950 0.00584007915168613
pancreatic cancer 2300 0.0085375856264461
primary pancreatic ductal adenocarcinoma 1271 0.0114086124564717
atypical teratoid / rhabdoid tumor 4369 0.0126769518903738
colon cancer 1475 0.0166879222634538
adrenocortical carcinoma 1427 0.0184666810822745
Breast cancer 3099 0.0248609387717636
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.0252682632582867
ductal carcinoma in situ 1745 0.0291016656546188
glioblastoma 5572 0.0297323345037844
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Liver cancer 31 0.0 1.0
Disease Target Count Z-score Confidence
Refractive error 43 0.0 2.0
Disease Target Count Z-score Confidence
Congenital muscular dystrophy 25 0.0 4.0

Expression

Synonym

Accession P24043 Q14736 Q5VUM2 Q93022
Symbols LAMM

Gene

PDB

4YEP   4YEQ  

  Ortholog (5)

Species Source
Mouse OMA Inparanoid
Rat OMA Inparanoid
Dog OMA Inparanoid
Horse OMA Inparanoid
Opossum OMA Inparanoid

 CSPA Cell Line (4)

Gene RIF (40)

PMID Text
26304763 By analyzing the gene test we found that compound heterozygous LAMA2 mutation inherited from the parents. One coming from the father was a gross deletion expanding from exon 36 to exon 65. The from the mother was a missense mutation c.1358G>C
25962468 Crystal structure of LAMM L4 domain
25958202 Data showed miR-29a/c as novel regulators of LAMA2 in ependymoma based on miRNA-mRNA covariation and sequence-based target predictions.
25663498 This study demonstrates a wide clinical spectrum of LAMA2-related muscular dystrophy and its prevalence in an LGMD2 cohort, which indicates that LAMA2 muscular dystrophy should be included in the LGMD2 nomenclature.
25500573 This report widens the clinical spectrum of cerebral manifestations related with mutations in LAMA2
25159915 Data find high frequency mutations in LAMA2 protein in hepatocellular carcinoma (HCC) patients. Its lower expression levels correlate with tumor progression, poor survival and higher chance of cancer recurrence.
24804215 Extracellular matrix proteins expression profiling in chemoresistant variants of the A2780 ovarian cancer cell line.
24742657 Treatment with cannabinoids inhibits HIV-1 Tat-enhanced attachment of U937 cells to collagen IV, laminin, or ECM1 proteins, which is linked to the cannabinoid receptor type 2 and the modulation of beta1-integrin and actin distribution
24628934 children with LAMA2 congenital muscular dystrophy may be at nogreater risk of developing malignant hyperthermia than the general population
24556084 Homozygous truncating mutations in POMK lead to congenital muscular dystrophies with secondary merosin deficiency, hypomyelination and intellectual disability.
More...

AA Sequence

MPGAAGVLLLLLLSGGLGGVQAQRPQQQRQSQAHQQRGLFPAVLNLASNALITTNATCGEKGPEMYCKLV      1 - 70
EHVPGQPVRNPQCRICNQNSSNPNQRHPITNAIDGKNTWWQSPSIKNGIEYHYVTITLDLQQVFQIAYVI     71 - 140
VKAANSPRPGNWILERSLDDVEYKPWQYHAVTDTECLTLYNIYPRTGPPSYAKDDEVICTSFYSKIHPLE    141 - 210
NGEIHISLINGRPSADDPSPELLEFTSARYIRLRFQRIRTLNADLMMFAHKDPREIDPIVTRRYYYSVKD    211 - 280
ISVGGMCICYGHARACPLDPATNKSRCECEHNTCGDSCDQCCPGFHQKPWRAGTFLTKTECEACNCHGKA    281 - 350
EECYYDENVARRNLSLNIRGKYIGGGVCINCTQNTAGINCETCTDGFFRPKGVSPNYPRPCQPCHCDPIG    351 - 420
SLNEVCVKDEKHARRGLAPGSCHCKTGFGGVSCDRCARGYTGYPDCKACNCSGLGSKNEDPCFGPCICKE    421 - 490
NVEGGDCSRCKSGFFNLQEDNWKGCDECFCSGVSNRCQSSYWTYGKIQDMSGWYLTDLPGRIRVAPQQDD    491 - 560
LDSPQQISISNAEARQALPHSYYWSAPAPYLGNKLPAVGGQLTFTISYDLEEEEEDTERVLQLMIILEGN    561 - 630
DLSISTAQDEVYLHPSEEHTNVLLLKEESFTIHGTHFPVRRKEFMTVLANLKRVLLQITYSFGMDAIFRL    631 - 700
SSVNLESAVSYPTDGSIAAAVEVCQCPPGYTGSSCESCWPRHRRVNGTIFGGICEPCQCFGHAESCDDVT    701 - 770
GECLNCKDHTGGPYCDKCLPGFYGEPTKGTSEDCQPCACPLNIPSNNFSPTCHLDRSLGLICDGCPVGYT    771 - 840
GPRCERCAEGYFGQPSVPGGSCQPCQCNDNLDFSIPGSCDSLSGSCLICKPGTTGRYCELCADGYFGDAV    841 - 910
DAKNCQPCRCNAGGSFSEVCHSQTGQCECRANVQGQRCDKCKAGTFGLQSARGCVPCNCNSFGSKSFDCE    911 - 980
ESGQCWCQPGVTGKKCDRCAHGYFNFQEGGCTACECSHLGNNCDPKTGRCICPPNTIGEKCSKCAPNTWG    981 - 1050
HSITTGCKACNCSTVGSLDFQCNVNTGQCNCHPKFSGAKCTECSRGHWNYPRCNLCDCFLPGTDATTCDS   1051 - 1120
ETKKCSCSDQTGQCTCKVNVEGIHCDRCRPGKFGLDAKNPLGCSSCYCFGTTTQCSEAKGLIRTWVTLKA   1121 - 1190
EQTILPLVDEALQHTTTKGIVFQHPEIVAHMDLMREDLHLEPFYWKLPEQFEGKKLMAYGGKLKYAIYFE   1191 - 1260
AREETGFSTYNPQVIIRGGTPTHARIIVRHMAAPLIGQLTRHEIEMTEKEWKYYGDDPRVHRTVTREDFL   1261 - 1330
DILYDIHYILIKATYGNFMRQSRISEISMEVAEQGRGTTMTPPADLIEKCDCPLGYSGLSCEACLPGFYR   1331 - 1400
LRSQPGGRTPGPTLGTCVPCQCNGHSSLCDPETSICQNCQHHTAGDFCERCALGYYGIVKGLPNDCQQCA   1401 - 1470
CPLISSSNNFSPSCVAEGLDDYRCTACPRGYEGQYCERCAPGYTGSPGNPGGSCQECECDPYGSLPVPCD   1471 - 1540
PVTGFCTCRPGATGRKCDGCKHWHAREGWECVFCGDECTGLLLGDLARLEQMVMSINLTGPLPAPYKMLY   1541 - 1610
GLENMTQELKHLLSPQRAPERLIQLAEGNLNTLVTEMNELLTRATKVTADGEQTGQDAERTNTRAKSLGE   1611 - 1680
FIKELARDAEAVNEKAIKLNETLGTRDEAFERNLEGLQKEIDQMIKELRRKNLETQKEIAEDELVAAEAL   1681 - 1750
LKKVKKLFGESRGENEEMEKDLREKLADYKNKVDDAWDLLREATDKIREANRLFAVNQKNMTALEKKKEA   1751 - 1820
VESGKRQIENTLKEGNDILDEANRLADEINSIIDYVEDIQTKLPPMSEELNDKIDDLSQEIKDRKLAEKV   1821 - 1890
SQAESHAAQLNDSSAVLDGILDEAKNISFNATAAFKAYSNIKDYIDEAEKVAKEAKDLAHEATKLATGPR   1891 - 1960
GLLKEDAKGCLQKSFRILNEAKKLANDVKENEDHLNGLKTRIENADARNGDLLRTLNDTLGKLSAIPNDT   1961 - 2030
AAKLQAVKDKARQANDTAKDVLAQITELHQNLDGLKKNYNKLADSVAKTNAVVKDPSKNKIIADADATVK   2031 - 2100
NLEQEADRLIDKLKPIKELEDNLKKNISEIKELINQARKQANSIKVSVSSGGDCIRTYKPEIKKGSYNNI   2101 - 2170
VVNVKTAVADNLLFYLGSAKFIDFLAIEMRKGKVSFLWDVGSGVGRVEYPDLTIDDSYWYRIVASRTGRN   2171 - 2240
GTISVRALDGPKASIVPSTHHSTSPPGYTILDVDANAMLFVGGLTGKLKKADAVRVITFTGCMGETYFDN   2241 - 2310
KPIGLWNFREKEGDCKGCTVSPQVEDSEGTIQFDGEGYALVSRPIRWYPNISTVMFKFRTFSSSALLMYL   2311 - 2380
ATRDLRDFMSVELTDGHIKVSYDLGSGMASVVSNQNHNDGKWKSFTLSRIQKQANISIVDIDTNQEENIA   2381 - 2450
TSSSGNNFGLDLKADDKIYFGGLPTLRNLSMKARPEVNLKKYSGCLKDIEISRTPYNILSSPDYVGVTKG   2451 - 2520
CSLENVYTVSFPKPGFVELSPVPIDVGTEINLSFSTKNESGIILLGSGGTPAPPRRKRRQTGQAYYAILL   2521 - 2590
NRGRLEVHLSTGARTMRKIVIRPEPNLFHDGREHSVHVERTRGIFTVQVDENRRYMQNLTVEQPIEVKKL   2591 - 2660
FVGGAPPEFQPSPLRNIPPFEGCIWNLVINSVPMDFARPVSFKNADIGRCAHQKLREDEDGAAPAEIVIQ   2661 - 2730
PEPVPTPAFPTPTPVLTHGPCAAESEPALLIGSKQFGLSRNSHIAIAFDDTKVKNRLTIELEVRTEAESG   2731 - 2800
LLFYMARINHADFATVQLRNGLPYFSYDLGSGDTHTMIPTKINDGQWHKIKIMRSKQEGILYVDGASNRT   2801 - 2870
ISPKKADILDVVGMLYVGGLPINYTTRRIGPVTYSIDGCVRNLHMAEAPADLEQPTSSFHVGTCFANAQR   2871 - 2940
GTYFDGTGFAKAVGGFKVGLDLLVEFEFRTTTTTGVLLGISSQKMDGMGIEMIDEKLMFHVDNGAGRFTA   2941 - 3010
VYDAGVPGHLCDGQWHKVTANKIKHRIELTVDGNQVEAQSPNPASTSADTNDPVFVGGFPDDLKQFGLTT   3011 - 3080
SIPFRGCIRSLKLTKGTGKPLEVNFAKALELRGVQPVSCPAN                               3081 - 3122
//

Text Mined References (73)

PMID Year Title
27234031 2016 Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
26304763 2016 Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy.
25962468 2015 Laminin L4 domain structure resembles adhesion modules in ephrin receptor and other transmembrane glycoproteins.
25958202 2015 microRNA network analysis identifies miR-29 cluster as key regulator of LAMA2 in ependymoma.
25663498 2015 LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies.
25500573 2015 LAMA2-related congenital muscular dystrophy complicated by West syndrome.
25233373 2014 Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.
25159915 2014 Diverse modes of genomic alteration in hepatocellular carcinoma.
24804215 2014 Extracellular matrix proteins expression profiling in chemoresistant variants of the A2780 ovarian cancer cell line.
24628934 2014 A case series of general anesthesia in children with laminin alpha2 (merosin)-deficient congenital muscular dystrophy.
More...