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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
43
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Arrhythmogenic right ventricular cardiomyopathy Conflicting classifications of pathogenicity; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Brugada syndrome Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Brugada syndrome 9 Conflicting classifications of pathogenicity ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma LHGDN 11891209
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 23301059
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31557618
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 23301059
★☆☆☆☆
Found in Text Mining only
Adult junctional epidermolysis bullosa (disorder) Junctional Epidermolysis Bullosa GENOMICS_ENGLAND_DG 27827380, 8530087, 8618022
★☆☆☆☆
Found in Text Mining only
Adult junctional epidermolysis bullosa (disorder) Junctional Epidermolysis Bullosa CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Adult junctional epidermolysis bullosa (disorder) Junctional Epidermolysis Bullosa CTD_human_DG
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 27903086
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis GWASCAT_DG 25085501
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia HPO_DG
★☆☆☆☆
Found in Text Mining only