Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3908
Gene name Gene Name - the full gene name approved by the HGNC.
Laminin subunit alpha 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LAMA2
Synonyms (NCBI Gene) Gene synonyms aliases
LAMM, MDC1A
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q22.33
Summary Summary of gene provided in NCBI Entrez Gene.
Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix compon
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs9492297 G>A,C Pathogenic Splice acceptor variant
rs41285286 T>G Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, genic upstream transcript variant, synonymous variant
rs56035053 A>G Uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, genic downstream transcript variant
rs56173620 C>A,G,T Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign, benign, benign-likely-benign Coding sequence variant, missense variant, genic downstream transcript variant
rs56209257 C>T Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT444725 hsa-miR-3133 PAR-CLIP 22100165
MIRT444724 hsa-miR-4511 PAR-CLIP 22100165
MIRT444723 hsa-miR-539-5p PAR-CLIP 22100165
MIRT444722 hsa-miR-183-3p PAR-CLIP 22100165
MIRT444721 hsa-miR-4452 PAR-CLIP 22100165
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005102 Function Signaling receptor binding IEA
GO:0005198 Function Structural molecule activity TAS 2185464
GO:0005201 Function Extracellular matrix structural constituent RCA 25037231, 27068509, 27559042, 28675934
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
156225 6482 ENSG00000196569
Protein
UniProt ID P24043
Protein name Laminin subunit alpha-2 (Laminin M chain) (Laminin-12 subunit alpha) (Laminin-2 subunit alpha) (Laminin-4 subunit alpha) (Merosin heavy chain)
Protein function Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.
PDB 4YEP , 4YEQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00055 Laminin_N 39 285 Laminin N-terminal (Domain VI) Family
PF00053 Laminin_EGF 287 341 Laminin EGF domain Domain
PF00053 Laminin_EGF 344 411 Laminin EGF domain Domain
PF00053 Laminin_EGF 414 468 Laminin EGF domain Domain
PF00053 Laminin_EGF 469 515 Laminin EGF domain Domain
PF00052 Laminin_B 583 722 Laminin B (Domain IV) Family
PF00053 Laminin_EGF 719 749 Laminin EGF domain Domain
PF00053 Laminin_EGF 757 804 Laminin EGF domain Domain
PF00053 Laminin_EGF 807 862 Laminin EGF domain Domain
PF00053 Laminin_EGF 865 915 Laminin EGF domain Domain
PF00053 Laminin_EGF 918 964 Laminin EGF domain Domain
PF00053 Laminin_EGF 967 1011 Laminin EGF domain Domain
PF00053 Laminin_EGF 1014 1057 Laminin EGF domain Domain
PF00053 Laminin_EGF 1060 1108 Laminin EGF domain Domain
PF00053 Laminin_EGF 1106 1163 Laminin EGF domain Domain
PF00052 Laminin_B 1234 1378 Laminin B (Domain IV) Family
PF00053 Laminin_EGF 1376 1408 Laminin EGF domain Domain
PF00053 Laminin_EGF 1420 1466 Laminin EGF domain Domain
PF00053 Laminin_EGF 1469 1524 Laminin EGF domain Domain
PF00053 Laminin_EGF 1527 1578 Laminin EGF domain Domain
PF06008 Laminin_I 1593 1853 Laminin Domain I Coiled-coil
PF06009 Laminin_II 2037 2173 Laminin Domain II Coiled-coil
PF00054 Laminin_G_1 2174 2314 Laminin G domain Domain
PF00054 Laminin_G_1 2368 2507 Laminin G domain Domain
PF00054 Laminin_G_1 2554 2695 Laminin G domain Domain
PF00054 Laminin_G_1 2793 2921 Laminin G domain Domain
PF02210 Laminin_G_2 2968 3096 Laminin G domain Domain
Tissue specificity TISSUE SPECIFICITY: Placenta, striated muscle, peripheral nerve, cardiac muscle, pancreas, lung, spleen, kidney, adrenal gland, skin, testis, meninges, choroid plexus, and some other regions of the brain; not in liver, thymus and bone.
Sequence
MPGAAGVLLLLLLSGGLGGVQAQRPQQQRQSQAHQQRGLFPAVLNLASNALITTNATCGE
KGPEMYCKLVEHVPGQPVRNPQCRICNQNSSNPNQRHPITNAIDGKNTWWQSPSIKNGIE
YHYVTITLDLQQVFQIAYVIVKAANSPRPGNWILERSLDDVEYKPWQYHAVTDTECLTLY
NIYPRTGPPSYAKDDEVICTSFYSKIHPLENGEIHISLINGRPSADDPSPELLEFTSARY
IRLRFQRIRTLNADLMMFAHKDPREIDPIVTRRYYYSVKDISVGG
MCICYGHARACPLDP
ATNKSRCECEHNTCGDSCDQCCPGFHQKPWRAGTFLTKTEC
EACNCHGKAEECYYDENVA
RRNLSLNIRGKYIGGGVCINCTQNTAGINCETCTDGFFRPKGVSPNYPRPC
QPCHCDPIG
SLNEVCVKDEKHARRGLAPGSCHCKTGFGGVSCDRCARGYTGYPDCKA
CNCSGLGSKNED
PCFGPCICKENVEGGDCSRCKSGFFNLQEDNWKGC
DECFCSGVSNRCQSSYWTYGKIQDM
SGWYLTDLPGRIRVAPQQDDLDSPQQISISNAEARQALPHSYYWSAPAPYLGNKLPAVGG
QLTFTISYDLEEEEEDTERVLQLMIILEGNDLSISTAQDEVYLHPSEEHTNVLLLKEESF
TIHGTHFPVRRKEFMTVLANLKRVLLQITYSFGMDAIFRLSSVNLESAVSYPTDGSIA
AA
VE
VCQCPPGYTGSSCESCWPRHRRVNGTI
FGGICEPCQCFGHAESCDDVTGECLNCKDHT
GGPYCDKCLPGFYGEPTKGTSEDC
QPCACPLNIPSNNFSPTCHLDRSLGLICDGCPVGYT
GPRCERCAEGYFGQPSVPGGSC
QPCQCNDNLDFSIPGSCDSLSGSCLICKPGTTGRYCEL
CADGYFGDAVDAKNC
QPCRCNAGGSFSEVCHSQTGQCECRANVQGQRCDKCKAGTFGLQS
ARGC
VPCNCNSFGSKSFDCEESGQCWCQPGVTGKKCDRCAHGYFNFQEGGCTACECSHLG
NNCDPKTGRCICPPNTIGEKCSKCAPNTWGHSITTGC
KACNCSTVGSLDFQCNVNTGQCN
CHPKFSGAKCTECSRGHWNYPRCNL
CDCFLPGTDATTCDSETKKCSCSDQTGQCTCKVNV
EGIHCDRCRPGKFGLDAKNPLGC
SSCYCFGTTTQCSEAKGLIRTWVTLKAEQTILPLVDE
ALQHTTTKGIVFQHPEIVAHMDLMREDLHLEPFYWKLPEQFEGKKLMAYGGKLKYAIYFE
AREETGFSTYNPQVIIRGGTPTHARIIVRHMAAPLIGQLTRHEIEMTEKEWKYYGDDPRV
HRTVTREDFLDILYDIHYILIKATYGNFMRQSRISEISMEVAEQGRGTTMTPPAD
LIEKC
DCPLGYSGLSCEACLPGFYRLRSQPGGR
TPGPTLGTCVPCQCNGHSSLCDPETSICQNCQ
HHTAGDFCERCALGYYGIVKGLPNDC
QQCACPLISSSNNFSPSCVAEGLDDYRCTACPRG
YEGQYCERCAPGYTGSPGNPGGSC
QECECDPYGSLPVPCDPVTGFCTCRPGATGRKCDGC
KHWHAREGWECVFCGDEC
TGLLLGDLARLEQMVMSINLTGPLPAPYKMLYGLENMTQELK
HLLSPQRAPERLIQLAEGNLNTLVTEMNELLTRATKVTADGEQTGQDAERTNTRAKSLGE
FIKELARDAEAVNEKAIKLNETLGTRDEAFERNLEGLQKEIDQMIKELRRKNLETQKEIA
EDELVAAEALLKKVKKLFGESRGENEEMEKDLREKLADYKNKVDDAWDLLREATDKIREA
NRLFAVNQKNMTALEKKKEAVESGKRQIENTLKEGNDILDEANRLADEINSII
DYVEDIQ
TKLPPMSEELNDKIDDLSQEIKDRKLAEKVSQAESHAAQLNDSSAVLDGILDEAKNISFN
ATAAFKAYSNIKDYIDEAEKVAKEAKDLAHEATKLATGPRGLLKEDAKGCLQKSFRILNE
AKKLANDVKENEDHLNGLKTRIENADARNGDLLRTLNDTLGKLSAIPNDTAAKLQAVKDK
ARQANDTAKDVLAQITELHQNLDGLKKNYNKLADSVAKTNAVVKDPSKNKIIADADATVK
NLEQEADRLIDKLKPIKELEDNLKKNISEIKELINQARKQANSIKVSVSSGGDCIRTYKP
EIKKGSYNNIVVN
VKTAVADNLLFYLGSAKFIDFLAIEMRKGKVSFLWDVGSGVGRVEYP
DLTIDDSYWYRIVASRTGRNGTISVRALDGPKASIVPSTHHSTSPPGYTILDVDANAMLF
VGGLTGKLKKADAVRVITFTGCMGETYFDNKPIG
LWNFREKEGDCKGCTVSPQVEDSEGT
IQFDGEGYALVSRPIRWYPNISTVMFKFRTFSSSALLMYLATRDLRDFMSVELTDGHIKV
SYDLGSGMASVVSNQNHNDGKWKSFTLSRIQKQANISIVDIDTNQEENIATSSSGNNFGL
DLKADDKIYFGGLPTLRNLSMKARPEVNLKKYSGCLKDIEISRTPYN
ILSSPDYVGVTKG
CSLENVYTVSFPKPGFVELSPVPIDVGTEINLSFSTKNESGIILLGSGGTPAPPRRKRRQ
TGQAYYAILLNRGRLEVHLSTGARTMRKIVIRPEPNLFHDGREHSVHVERTRGIFTVQVD
ENRRYMQNLTVEQPIEVKKLFVGGAPPEFQPSPLRNIPPFEGCIWNLVINSVPMD
FARPV
SFKNADIGRCAHQKLREDEDGAAPAEIVIQPEPVPTPAFPTPTPVLTHGPCAAESEPALL
IGSKQFGLSRNSHIAIAFDDTKVKNRLTIELEVRTEAESGLLFYMARINHADFATVQLRN
GLPYFSYDLGSGDTHTMIPTKINDGQWHKIKIMRSKQEGILYVDGASNRTISPKKADILD
VVGMLYVGGLPINYTTRRIGPVTYSIDGCVRNLHMAEAPAD
LEQPTSSFHVGTCFANAQR
GTYFDGTGFAKAVGGFKVGLDLLVEFEFRTTTTTGVLLGISSQKMDGMGIEMIDEKLMFH
VDNGAGRFTAVYDAGVPGHLCDGQWHKVTANKIKHRIELTVDGNQVEAQSPNPASTSADT
NDPVFVGGFPDDLKQFGLTTSIPFRGCIRSLKLTKG
TGKPLEVNFAKALELRGVQPVSCP
AN
Sequence length 3122
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Cytoskeleton in muscle cells
Toxoplasmosis
Amoebiasis
Human papillomavirus infection
Pathways in cancer
Small cell lung cancer
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Viral myocarditis
  Laminin interactions
MET activates PTK2 signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency, Congenital Muscular Dystrophy, LAMA2-related rs121913575, rs121913576, rs1296761337, rs1246940477, rs776548207, rs1415944134, rs914395925, rs1554269966, rs1583149141, rs121913572 N/A
Limb-Girdle Muscular Dystrophy muscular dystrophy, limb-girdle, autosomal recessive 23 rs121913572, rs778539477, rs1392196900, rs770617208, rs1064797040, rs191912891, rs747349942, rs398123373, rs758775001, rs746844753, rs200923373, rs1776950897, rs1562273395, rs1583845651, rs1185229314
View all (6 more)
N/A
merosin deficient congenital muscular dystrophy Merosin deficient congenital muscular dystrophy rs766920075, rs1055407857, rs759144210, rs781376927, rs1554295204, rs770617208, rs398123367, rs1554303937, rs727502851, rs764839142, rs376088608, rs1554320205, rs1064797040, rs773209126, rs1562451730
View all (120 more)
N/A
congenital muscular dystrophy Congenital muscular dystrophy rs1562530132 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma (childhood onset) N/A N/A GWAS
Cardiomyopathy Primary dilated cardiomyopathy N/A N/A ClinVar
Hyperopia Hyperopia N/A N/A GWAS
Mental retardation intellectual disability N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35238419
Allanson Pantzar McLeod syndrome Associate 29376585
Arrhythmogenic Right Ventricular Dysplasia Associate 36535090
Brain Diseases Associate 37182895
Brain Neoplasms Inhibit 33878734
Breast Neoplasms Associate 26432421, 30305115, 32526247, 33500458
Carcinoma Hepatocellular Associate 25159915, 33878734
Carcinoma Neuroendocrine Associate 16507913
Cardiomyopathy Dilated Associate 32904964, 35728000
Central Nervous System Vascular Malformations Associate 37182895