Gene Gene information from NCBI Gene database.
Entrez ID 3910
Gene name Laminin subunit alpha 4
Gene symbol LAMA4
Synonyms (NCBI Gene)
CMD1JJLAMA3LAMA4*-1
Chromosome 6
Chromosome location 6q21
Summary Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, n
SNPs SNP information provided by dbSNP.
8
SNP ID Visualize variation Clinical significance Consequence
rs3752579 A>T Conflicting-interpretations-of-pathogenicity, benign Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs145897390 G>A,C Uncertain-significance, conflicting-interpretations-of-pathogenicity Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs150084275 G>A,C Likely-benign, conflicting-interpretations-of-pathogenicity Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs200112094 A>G Uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs201209516 G>A Conflicting-interpretations-of-pathogenicity Intron variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
116
miRTarBase ID miRNA Experiments Reference
MIRT022144 hsa-miR-124-3p Microarray 18668037
MIRT038757 hsa-miR-93-3p CLASH 23622248
MIRT462261 hsa-miR-4274 PAR-CLIP 23592263
MIRT462260 hsa-miR-6854-5p PAR-CLIP 23592263
MIRT462259 hsa-miR-7705 PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0005102 Function Signaling receptor binding IEA
GO:0005201 Function Extracellular matrix structural constituent ISS
GO:0005201 Function Extracellular matrix structural constituent RCA 25037231, 27068509, 27559042, 28675934
GO:0005201 Function Extracellular matrix structural constituent TAS 7959779
GO:0005515 Function Protein binding IPI 32296183, 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600133 6484 ENSG00000112769
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16363
Protein name Laminin subunit alpha-4 (Laminin-14 subunit alpha) (Laminin-8 subunit alpha) (Laminin-9 subunit alpha)
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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00053 Laminin_EGF 82 129 Laminin EGF domain Domain
PF00053 Laminin_EGF 132 184 Laminin EGF domain Domain
PF00053 Laminin_EGF 187 241 Laminin EGF domain Domain
PF06008 Laminin_I 298 555 Laminin Domain I Coiled-coil
PF06009 Laminin_II 734 861 Laminin Domain II Coiled-coil
PF02210 Laminin_G_2 874 1014 Laminin G domain Domain
PF02210 Laminin_G_2 1079 1210 Laminin G domain Domain
PF02210 Laminin_G_2 1263 1379 Laminin G domain Domain
PF02210 Laminin_G_2 1499 1626 Laminin G domain Domain
PF02210 Laminin_G_2 1676 1801 Laminin G domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in placenta (at protein level) (PubMed:32337544). Detected in fibroblasts and urine (at protein level) (PubMed:25326458, PubMed:36213313, PubMed:37453717). In adult, strong expression in heart, lung, ovary small and large inte
Sequence
MALSSAWRSVLPLWLLWSAACSRAASGDDNAFPFDIEGSSAVGRQDPPETSEPRVALGRL
PPAAEKCNAGFFHTLSGECVPCDCNGNSNECLDGSGYCVHCQRNTTGEHCEKCLDGYIGD
SIRGAPQFC
QPCPCPLPHLANFAESCYRKNGAVRCICNENYAGPNCERCAPGYYGNPLLI
GSTC
KKCDCSGNSDPNLIFEDCDEVTGQCRNCLRNTTGFKCERCAPGYYGDARIAKNCAV
C
NCGGGPCDSVTGECLEEGFEPPTGMDCPTISCDKCVWDLTDALRLAALSIEEGKSGVLS
VSSGAAAHRHVNEINATIYLLKTKLSERENQYALRKIQINNAENTMKSLLSDVEELVEKE
NQASRKGQLVQKESMDTINHASQLVEQAHDMRDKIQEINNKMLYYGEEHELSPKEISEKL
VLAQKMLEEIRSRQPFFTQRELVDEEADEAYELLSQAESWQRLHNETRTLFPVVLEQLDD
YNAKLSDLQEALDQALNYVRDAEDMNRATAARQRDHEKQQERVREQMEVVNMSLSTSADS
LTTPRLTLSELDDII
KNASGIYAEIDGAKSELQVKLSNLSNLSHDLVQEAIDHAQDLQQE
ANELSRKLHSSDMNGLVQKALDASNVYENIVNYVSEANETAEFALNTTDRIYDAVSGIDT
QIIYHKDESENLLNQARELQAKAESSSDEAVADTSRRVGGALARKSALKTRLSDAVKQLQ
AAERGDAQQRLGQSRLITEEANRTTMEVQQATAPMANNLTNWSQNLQHFDSSAYNTAVNS
ARDAVRNLTEVVPQLLDQLRTVEQKRPASNVSASIQRIRELIAQTRSVASKIQVSMMFDG
QSAVEVHSRTSMDDLKAFTSL
SLYMKPPVKRPELTETADQFILYLGSKNAKKEYMGLAIK
NDNLVYVYNLGTKDVEIPLDSKPVSSWPAYFSIVKIERVGKHGKVFLTVPSLSSTAEEKF
IKKGEFSGDDSLLDLDPEDTVFYVGGVPSNFKLPTSLNLPGFVGCLELATLNND
VISLYN
FKHIYNMDPSTSVPCARDKLAFTQSRAASYFFDGSGYAVVRDITRRGKFGQVTRFDIEVR
TPADNGLILLMVNGSMFFRLEMRNGYLHVFYDFGFSGGPVHLEDTLKKAQINDAKYHEIS
IIYHNDKKMILVVDRRHVKSMDNEKMKIPFTDIYIGGAPPEILQSRALRAHLPLDINFRG
CMKGFQFQKK
DFNLLEQTETLGVGYGCPEDSLISRRAYFNGQSFIASIQKISFFDGFEGG
FNFRTLQPNGLLFYYASGSDVFSISLDNGTVIMDVKGIKVQSVDKQYNDGLSHFVISSVS
PTRYELIVDKSRVGSKNPTKGKIEQTQASEKKFYFGGSPISAQYANFTGCISNAYFTRV
D
RDVEVEDFQRYTEKVHTSLYECPIESSPLFLLHKKGKNLSKPKASQNKKGGKSKDAPSWD
PVALKLPERNTPRNSHCHLSNSPRAIEHAYQYGGTANSRQEFEHLKGDFGAKSQFSIRLR
TRSSHGMIFYVSDQEENDFMTLFLAHGRLVYMFNVGHKKLKIRSQEKYNDGLWHDVIFIR
ERSSGRLVIDGLRVLEESLPPTEATWKIKGPIYLGGVAPGKAVKNVQINSIYSFSGCLSN
LQLNGA
SITSASQTFSVTPCFEGPMETGTYFSTEGGYVVLDESFNIGLKFEIAFEVRPRS
SSGTLVHGHSVNGEYLNVHMKNGQVIVKVNNGIRDFSTSVTPKQSLCDGRWHRITVIRDS
NVVQLDVDSEVNHVVGPLNPKPIDHREPVFVGGVPESLLTPRLAPSKPFTGCIRHFVIDG
H
PVSFSKAALVSGAVSINSCPAA
Sequence length 1823
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2425
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Arrhythmogenic right ventricular cardiomyopathy Conflicting classifications of pathogenicity; Uncertain significance rs143269044, rs730880123, rs368316926 RCV000853180
RCV000157280
RCV000678712
Brugada syndrome Uncertain significance rs782547342 RCV000852565
Brugada syndrome 9 Conflicting classifications of pathogenicity rs547323858 RCV000578098
Cardiomyopathy Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity rs1554332565, rs781868926, rs587781014, rs35772073, rs143269044, rs144482486, rs148811960, rs184220860, rs141261442, rs139146419, rs727504595, rs142048329, rs200017155, rs137893207, rs183262122
View all (59 more)
RCV001799494
RCV001799495
RCV001170695
RCV001170693
RCV000770215
RCV001170141
RCV000769184
RCV001170143
RCV000769190
RCV000769204
RCV000769192
RCV000769186
RCV001170905
RCV000770218
RCV000769198
RCV000770216
RCV000770225
RCV000853007
RCV000770219
RCV001170686
RCV001798863
RCV001170904
RCV000770224
RCV003150325
RCV000769188
RCV000770223
RCV001170697
RCV000853005
RCV000770220
RCV000770214
RCV000769212
RCV000769211
RCV000769196
RCV000769195
RCV001170688
RCV001170687
RCV000769194
RCV000769193
RCV000769210
RCV001170142
RCV000769189
RCV000769209
RCV000769187
RCV000769207
RCV000769185
RCV001170698
RCV000769200
RCV000769191
RCV000769197
RCV000769199
RCV000770210
RCV000770211
RCV000770212
RCV000770213
RCV000770217
RCV000770221
RCV000770222
RCV000769201
RCV000769202
RCV000769203
RCV000769205
RCV000769206
RCV000769208
RCV001170689
RCV000852564
RCV001170144
RCV001170906
RCV001799032
RCV001170690
RCV001170691
RCV001170692
RCV001170694
RCV001170696
RCV001170907
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arrhythmogenic Right Ventricular Dysplasia Associate 35526016
Arterial Occlusive Diseases Stimulate 11854734
Asthma Associate 34456632
Breast Neoplasms Associate 34541602
Carcinoma Hepatocellular Associate 33327879, 37051625
Carcinoma Renal Cell Associate 31723229
Cardiomyopathies Associate 35893073
Cardiomyopathy Dilated Associate 30650640, 31024045
Cataract Associate 31076560
Colorectal Neoplasms Associate 29504916