LAMA3 Gene (Protein Coding)

Laminin Subunit Alpha 3

GC18P023689
GIFtS:
45
The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduc... See more...

Aliases for LAMA3 Gene

Aliases for LAMA3 Gene

  • Laminin Subunit Alpha 3 2 3 5
  • Laminin, Alpha 3 (Nicein (150kD), Kalinin (165kD), BM600 (150kD), Epilegrin) 2 3
  • Laminin Subunit Alpha-3 3 4
  • Laminin-5 Subunit Alpha 3 4
  • Laminin-6 Subunit Alpha 3 4
  • Laminin-7 Subunit Alpha 3 4
  • Kalinin Subunit Alpha 3 4
  • Nicein Subunit Alpha 3 4
  • LAMNA 3 4
  • E170 3 4
  • Laminin 5, Alpha-3 Subunit 3
  • Epiligrin 170 Kda Subunit 3
  • Epiligrin Alpha 3 Subunit 3
  • Epiligrin 170 KDa Subunit 4
  • Laminin-5 Alpha 3 Chain 3
  • Epiligrin Subunit Alpha 4
  • LAM3, Alpha-3 Subunit 3
  • Kalinin 165kD Subunit 3
  • Nicein 150kD Subunit 3
  • BM600 150kD Subunit 3
  • Laminin, Alpha 3 2
  • Kalinin-165kDa 2
  • Nicein-150kDa 2
  • BM600-150kDa 2
  • Laminin A3 3
  • Epiligrin 2
  • BM600 3
  • LAMA3 5
  • LOCS 3

External Ids for LAMA3 Gene

Previous HGNC Symbols for LAMA3 Gene

  • LAMNA

Previous GeneCards Identifiers for LAMA3 Gene

  • GC18P021345
  • GC18P021184
  • GC18P019521
  • GC18P019523
  • GC18P021269
  • GC18P018125

Summaries for LAMA3 Gene

Entrez Gene Summary for LAMA3 Gene

  • The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]

GeneCards Summary for LAMA3 Gene

LAMA3 (Laminin Subunit Alpha 3) is a Protein Coding gene. Diseases associated with LAMA3 include Laryngoonychocutaneous Syndrome and Epidermolysis Bullosa, Junctional, Herlitz Type. Among its related pathways are Integrin Pathway and Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and obsolete signal transducer activity. An important paralog of this gene is LAMA5.

UniProtKB/Swiss-Prot Summary for LAMA3 Gene

  • 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.
  • Laminin-5 is thought to be involved in (1) cell adhesion via integrin alpha-3/beta-1 in focal adhesion and integrin alpha-6/beta-4 in hemidesmosomes, (2) signal transduction via tyrosine phosphorylation of pp125-FAK and p80, (3) differentiation of keratinocytes.

Gene Wiki entry for LAMA3 Gene

Additional gene information for LAMA3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LAMA3 Gene

Genomics for LAMA3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for LAMA3 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH18J023688 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 271.5 +0.8 758 2.8 ZNF600 ZNF580 ZBTB10 FEZF1 ZEB1 KLF7 CTCF MAX KLF9 CTBP1 LAMA3 piR-50444-196 RMC1 TTC39C
GH18J023870 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 267.8 +184.5 184549 7.3 ZNF600 ZNF10 FEZF1 ZNF217 CTBP1 EBF1 PRDM6 JUND ZNF189 ELF1 LAMA3 HSALNG0120474 HSALNG0120475 TTC39C
GH18J023882 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 267 +195.5 195512 4.9 CEBPA FOXA2 KLF9 SMAD4 SAP130 MIER3 JUND TBP ZNF205 KDM1A LAMA3 ANKRD29 TTC39C HSALNG0120474 HSALNG0120475
GH18J023662 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 25.4 -26.3 -26343 2.2 ZNF600 ZNF580 ZBTB10 ZEB1 MAX SIN3A KLF9 ZNF843 TARDBP KLF16 ANKRD29 LAMA3 RMC1 HSALNG0120470
GH18J023715 Enhancer 1.1 Ensembl ENCODE 37 +29.3 29251 8.2 ZNF600 IKZF1 JUND ZNF592 NFIC ZNF639 ZEB1 ARNT EP300 TAF9B LAMA3 ANKRD29 RPL23AP77 HE856078 TTC39C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LAMA3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LAMA3

Top Transcription factor binding sites by QIAGEN in the LAMA3 gene promoter:
  • c-Myb
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • E4BP4
  • Olf-1
  • PPAR-alpha

Genomic Locations for LAMA3 Gene

Latest Assembly
chr18:23,689,443-23,956,222
(GRCh38/hg38)
Size:
266,780 bases
Orientation:
Plus strand

Previous Assembly
chr18:21,269,417-21,535,030
(GRCh37/hg19 by Entrez Gene)
Size:
265,614 bases
Orientation:
Plus strand

chr18:21,269,407-21,535,030
(GRCh37/hg19 by Ensembl)
Size:
265,624 bases
Orientation:
Plus strand

Genomic View for LAMA3 Gene

Genes around LAMA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LAMA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LAMA3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for LAMA3 Gene

Proteins for LAMA3 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for LAMA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16787-LAMA3_HUMAN
    Recommended name:
    Laminin subunit alpha-3
    Protein Accession:
    Q16787
    Secondary Accessions:
    • B0YJ33
    • Q13679
    • Q13680
    • Q6VU67
    • Q6VU68
    • Q6VU69
    • Q76E14
    • Q96TG0

    Protein attributes for LAMA3 Gene

    Size:
    3333 amino acids
    Molecular mass:
    366649 Da
    Quaternary structure:
    • Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Alpha-3 is a subunit of laminin-5 (laminin-332 or epiligrin/kalinin/nicein), laminin-6 (laminin-311 or K-laminin) and laminin-7 (laminin-321 or KS-laminin).

    Alternative splice isoforms for LAMA3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LAMA3 Gene

Protein Expression for LAMA3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for LAMA3 Gene

  • Glycosylation at Asn142, Asn242, Asn2365, Asn2502, Asn2584, Asn2751, Ser2975, and Asn3097
  • Modification sites at PhosphoSitePlus

Other Protein References for LAMA3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LAMA3 Gene

Domains & Families for LAMA3 Gene

Gene Families for LAMA3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for LAMA3 Gene

InterPro:
Blocks:
  • Laminin G
  • Laminin I

Suggested Antigen Peptide Sequences for LAMA3 Gene

GenScript: Design optimal peptide antigens:
  • LAMA3 protein (A0PJJ8_HUMAN)
  • Laminin alpha-3 chain variant 1 (B0YJ32_HUMAN)
  • Nicein subunit alpha (LAMA3_HUMAN)
  • Epiligrin alpha 3 subunit (Q14732_HUMAN)
  • LAMA3 protein (Q566Q1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16787

UniProtKB/Swiss-Prot:

LAMA3_HUMAN :
  • The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure.
Domain:
  • The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure.
  • Domain G is globular.
genes like me logo Genes that share domains with LAMA3: view

Function for LAMA3 Gene

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for LAMA3 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Function:
Laminin-5 is thought to be involved in (1) cell adhesion via integrin alpha-3/beta-1 in focal adhesion and integrin alpha-6/beta-4 in hemidesmosomes, (2) signal transduction via tyrosine phosphorylation of pp125-FAK and p80, (3) differentiation of keratinocytes.
UniProtKB/Swiss-Prot Induction:
Laminin-5 is up-regulated in wound sites of human skin.
GENATLAS Biochemistry:
laminin,alpha 3 polypeptide,heterotrimerizing with laminin beta 3 and gamma 2 in laminin 5 (kalinin/nicein),component of cutaneous basement membrane zone

Phenotypes From GWAS Catalog for LAMA3 Gene

Gene Ontology (GO) - Molecular Function for LAMA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IEA --
GO:0005178 integrin binding IBA 21873635
GO:0005198 structural molecule activity NAS 8586427
GO:0005201 extracellular matrix structural constituent RCA 27068509
genes like me logo Genes that share ontologies with LAMA3: view
genes like me logo Genes that share phenotypes with LAMA3: view

Human Phenotype Ontology for LAMA3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LAMA3 Gene

MGI Knock Outs for LAMA3:

Animal Models for research

miRNA for LAMA3 Gene

miRTarBase miRNAs that target LAMA3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LAMA3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LAMA3 Gene

Localization for LAMA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAMA3 Gene

Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LAMA3 gene
Compartment Confidence
extracellular 5
plasma membrane 4
endoplasmic reticulum 4
cytoskeleton 3
nucleus 2
cytosol 2
mitochondrion 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LAMA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005604 basement membrane IEA,IBA 21873635
GO:0005610 laminin-5 complex IEA,IBA 21873635
GO:0005783 endoplasmic reticulum IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with LAMA3: view

Pathways & Interactions for LAMA3 Gene

PathCards logo

SuperPathways for LAMA3 Gene

SuperPathway Contained pathways
1 Integrin Pathway
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
UPA-UPAR Pathway
.56
Inhibition of Angiogenesis by TSP1
.50
Transendothelial Migration of Leukocytes
.38
2 MET promotes cell motility
MET promotes cell motility
.45
Signaling by MET
.45
Laminin interactions
.40
Non-integrin membrane-ECM interactions
.37
Alpha 6 Beta 4 signaling pathway
.32
MET activates PTK2 signaling
.01
3 ERK Signaling
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
4 Collagen chain trimerization
Collagen formation
.75
Assembly of collagen fibrils and other multimeric structures
.65
Anchoring fibril formation
.01
5 Cell junction organization
Cell junction organization
.70
Cell-Cell communication
.66
Type I hemidesmosome assembly
.01
genes like me logo Genes that share pathways with LAMA3: view

Pathways by source for LAMA3 Gene

1 GeneGo (Thomson Reuters) pathway for LAMA3 Gene
  • Cell adhesion_ECM remodeling
14 Qiagen pathways for LAMA3 Gene
  • CDK5 Pathway
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling

SIGNOR curated interactions for LAMA3 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for LAMA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001738 morphogenesis of a polarized epithelium IBA 21873635
GO:0007155 cell adhesion IEA --
GO:0007229 integrin-mediated signaling pathway IBA 21873635
GO:0007411 axon guidance IBA 21873635
GO:0008544 epidermis development TAS 8586427
genes like me logo Genes that share ontologies with LAMA3: view

Drugs & Compounds for LAMA3 Gene

Products:

  1. Drug products for research

(1) Drugs for LAMA3 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lanoteplase Investigational Pharma Target 0

(1) Additional Compounds for LAMA3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LAMA3: view

Transcripts for LAMA3 Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for LAMA3 Gene

5 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LAMA3

Alternative Splicing Database (ASD) splice patterns (SP) for LAMA3 Gene

No ASD Table

Relevant External Links for LAMA3 Gene

GeneLoc Exon Structure for
LAMA3

Expression for LAMA3 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LAMA3 Gene

mRNA expression in normal human tissues for LAMA3 Gene
mRNA expression by GTEx for LAMA3 GenemRNA expression by BioGPS for LAMA3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LAMA3 Gene

This gene is overexpressed in Lung (15.8) and Islet of Langerhans (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LAMA3 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LAMA3

SOURCE GeneReport for Unigene cluster for LAMA3 Gene:

Hs.436367

mRNA Expression by UniProt/SwissProt for LAMA3 Gene:

Q16787-LAMA3_HUMAN
Tissue specificity: Skin; respiratory, urinary, and digestive epithelia and in other specialized tissues with prominent secretory or protective functions. Epithelial basement membrane, and epithelial cell tongue that migrates into a wound bed. A differential and focal expression of the subunit alpha-3 is observed in the CNS.

Evidence on tissue expression from TISSUES for LAMA3 Gene

  • Skin(4.5)
  • Lung(4)
  • Adrenal gland(3.7)
  • Heart(3.5)
  • Gall bladder(3.3)
  • Intestine(3.3)
  • Liver(3.2)
  • Kidney(2.9)
  • Pancreas(2.9)
  • Nervous system(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LAMA3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • epiglottis
  • eye
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tooth
  • vocal cord
Thorax:
  • esophagus
  • lung
  • trachea
Abdomen:
  • stomach
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with LAMA3: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for LAMA3 Gene

Orthologs for LAMA3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LAMA3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia LAMA3 29 30
  • 99.36 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia LAMA3 29 30
  • 85.76 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia LAMA3 29 30
  • 84.84 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Lama3 29 16 30
  • 81.17 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Lama3 29
  • 80.46 (n)
Oppossum
(Monodelphis domestica)
 Mammalia LAMA3 30
  • 71 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 64 (a)
 OneToMany
-- 30
  • 62 (a)
 OneToMany
-- 30
  • 50 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves LAMA3 29 30
  • 63.47 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia LAMA3 30
  • 55 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia lama3 29
  • 59.01 (n)
Zebrafish
(Danio rerio)
 Actinopterygii LAMA3 (1 of 2) 30
  • 33 (a)
 OneToMany
lama3 30
  • 30 (a)
 OneToMany
Species where no ortholog for LAMA3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for LAMA3 Gene

ENSEMBL:
Gene Tree for LAMA3 (if available)
TreeFam:
Gene Tree for LAMA3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LAMA3: view image
Alliance of Genome Resources:
Additional Orthologs for LAMA3

Paralogs for LAMA3 Gene

Paralogs for LAMA3 Gene

(12) SIMAP similar genes for LAMA3 Gene using alignment to 12 proteins:

  • LAMA3_HUMAN
  • A0PJJ8_HUMAN
  • B0YJ32_HUMAN
  • B0YJ33_HUMAN
  • K7EIP4_HUMAN
  • K7EMU9_HUMAN
  • K7EPP3_HUMAN
  • K7EQ42_HUMAN
  • K7ERM0_HUMAN
  • L8E6V6_HUMAN
  • Q566Q1_HUMAN
  • Q99533_HUMAN
genes like me logo Genes that share paralogs with LAMA3: view

Variants for LAMA3 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LAMA3 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
1029726 Uncertain Significance: Junctional epidermolysis bullosa, non-Herlitz type 23,953,034(+) A/G
NM_198129.4(LAMA3):c.9781A>G (p.Ser3261Gly) 		MISSENSE
1034116 Uncertain Significance: Junctional epidermolysis bullosa, non-Herlitz type 23,912,780(+) T/A
NM_198129.4(LAMA3):c.7228T>A (p.Leu2410Met) 		MISSENSE
1047960 Pathogenic: Epidermolysis bullosa junctionalis 23,903,932(+) G/T
NM_198129.4(LAMA3):c.6319-1G>T 		SPLICE_ACCEPTOR
1047961 Pathogenic: Epidermolysis bullosa junctionalis 23,903,962(+) TGAAG/CTGGCAAGA
NM_198129.4(LAMA3):c.6348_6352delinsCTGGCAAGA (p.Glu2117fs) 		FRAMESHIFT
1047962 Pathogenic: Epidermolysis bullosa junctionalis 23,953,109(+) G/T
NM_198129.4(LAMA3):c.9856G>T (p.Ala3286Ser) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LAMA3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for LAMA3 Gene

Variant ID Type Subtype PubMed ID
esv2556502 CNV deletion 19546169
esv2657446 CNV deletion 23128226
esv2664111 CNV deletion 23128226
esv2671824 CNV deletion 23128226
esv2716865 CNV deletion 23290073
esv2716866 CNV deletion 23290073
esv2839 CNV loss 18987735
esv3330301 CNV duplication 20981092
esv3641972 CNV loss 21293372
esv3641973 CNV loss 21293372
esv3641974 CNV loss 21293372
nsv1060031 CNV gain 25217958
nsv2228 CNV insertion 18451855
nsv478454 CNV novel sequence insertion 20440878
nsv952692 CNV deletion 24416366
nsv978622 CNV duplication 23825009

Variation tolerance for LAMA3 Gene

Residual Variation Intolerance Score: 90.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.80; 86.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LAMA3 Gene

Human Gene Mutation Database (HGMD)
LAMA3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LAMA3
Leiden Open Variation Database (LOVD)
LAMA3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAMA3 Gene

Disorders for LAMA3 Gene

MalaCards: The human disease database

(22) MalaCards diseases for LAMA3 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
laryngoonychocutaneous syndrome
  • locs
epidermolysis bullosa, junctional, herlitz type
  • epidermolysis bullosa junctionalis, herlitz type
epidermolysis bullosa, junctional, non-herlitz type
  • epidermolysis bullosa junctionalis, non-herlitz type
junctional epidermolysis bullosa
  • congenital junctional epidermolysis bullosa
epidermolysis bullosa
  • acantholysis bullosa
- elite association - COSMIC cancer census association via MalaCards
Search LAMA3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LAMA3_HUMAN
  • Epidermolysis bullosa, junctional, Herlitz type (H-JEB) [MIM:226700]: An infantile and lethal form of junctional epidermolysis bullosa, a group of blistering skin diseases characterized by tissue separation which occurs within the dermo-epidermal basement In the Herlitz type, death occurs usually within the first six months of life. Occasionally, children survive to teens. It is marked by bullous lesions at birth and extensive denudation of skin and mucous membranes that may be hemorrhagic. {ECO:0000269 PubMed:7633458, ECO:0000269 PubMed:8530087}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Laryngoonychocutaneous syndrome (LOCS) [MIM:245660]: Autosomal recessive epithelial disorder confined to the Punjabi Muslim population. The condition is characterized by cutaneous erosions, nail dystrophy and exuberant vascular granulation tissue in certain epithelia, especially conjunctiva and larynx. {ECO:0000269 PubMed:12915477}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for LAMA3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with LAMA3: view

No data available for Genatlas for LAMA3 Gene

Publications for LAMA3 Gene

  1. An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. (PMID: 12915477) McLean WH … Phillips RJ (Human molecular genetics 2003) 3 4 22 72
  2. Cloning of the laminin alpha 3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa. (PMID: 8586427) Vidal F … Meneguzzi G (Genomics 1995) 3 4 22 72
  3. Cloning of the LamA3 gene encoding the alpha 3 chain of the adhesive ligand epiligrin. Expression in wound repair. (PMID: 8077230) Ryan MC … Carter WG (The Journal of biological chemistry 1994) 2 3 4 22
  4. Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. (PMID: 11810295) Nakano A … Uitto J (Human genetics 2002) 3 22 72
  5. A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk. (PMID: 8530087) McGrath JA … Uitto J (Genomics 1995) 3 4 22

ExternalLinks

View latest publications for LAMA3 gene in Mastermind

Products for LAMA3 Gene

Sources for LAMA3 Gene