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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
External Ids for LAMA3 Gene
- HGNC: 6483
- Entrez Gene: 3909
- Ensembl: ENSG00000053747
- OMIM: 600805
- UniProtKB: Q16787
Previous HGNC Symbols for LAMA3 Gene
- LAMNA
Previous GeneCards Identifiers for LAMA3 Gene
- GC18P021345
- GC18P021184
- GC18P019521
- GC18P019523
- GC18P021269
- GC18P018125
Summaries 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 Signaling by GPCR. 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.
Additional gene information for LAMA3 Gene
- HGNC(6483)
- Entrez Gene(3909)
- Ensembl(ENSG00000053747)
- OMIM(600805)
- UniProtKB(Q16787)
- Open Targets Platform(ENSG00000053747)
- Monarch Initiative
- Search for LAMA3 at DataMed
- Search for LAMA3 at HumanCyc
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
Promoters and enhancers for LAMA3 Gene
- 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
Genomic Locations for LAMA3 Gene
- chr18:23,689,443-23,956,222
- (GRCh38/hg38)
- Size:
- 266,780 bases
- Orientation:
- Plus strand
- chr18:21,269,407-21,535,030
- (GRCh37/hg19)
- 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:
-
- 18q11.2 by HGNC
- 18q11.2 by Entrez Gene
- 18q11.2 by Ensembl
LAMA3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for LAMA3 Gene
Proteins for LAMA3 Gene
-
Protein details for LAMA3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q16787-LAMA3_HUMAN
- Recommended name:
- Laminin subunit alpha-3
- Protein Accession:
- Q16787
- 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).
Protein Expression for LAMA3 Gene
Post-translational modifications for LAMA3 Gene
Other Protein References for LAMA3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-LAMA3 polyclonal antibody
- Novus Biologicals Antibodies for LAMA3
-
Abcam antibodies for LAMA3
- Invitrogen Antibodies for LAMA3 (AFLGC-LAMA3)
Protein Products
-
OriGene Purified Proteins for LAMA3
- Search Origene for MassSpec and Protein Over-expression Lysates for LAMA3
- Origene Custom Protein Services for LAMA3
- antibodies-online: Show 3 available LAMA3 Proteins ranked by validation data
- Compare Top LAMA3 Proteins
-
Quality Products:
-
Signalway Proteins for LAMA3
-
Abcam proteins for LAMA3
Assay Products
- antibodies-online: Show 14 available LAMA3 Elisa Kits ranked by validation data
- Compare Top LAMA3 Elisa Kits
-
Quality Products:
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
- ProtoNet:
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
Q16787UniProtKB/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.
Function for LAMA3 Gene
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
| 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 |
Phenotypes for LAMA3 Gene
- MGI mutant phenotypes for LAMA3:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for LAMA3:
Animal Models for LAMA3 Gene
- MGI Knock Outs for LAMA3:
-
- Lama3 Lama3<tm1Crt>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for LAMA3 - Select products 50% OFF >
- * LAMA3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for LAMA3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LAMA3
-
Santa Cruz Biotechnology (SCBT) CRISPR for LAMA3
miRNA for LAMA3 Gene
- miRTarBase miRNAs that target LAMA3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LAMA3
- Browse OriGene Inhibitory RNA Products For LAMA3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LAMA3
Clone Products
- Applied Biological Materials (abm): Clones for LAMA3 - Select products 50% OFF >
- * LAMA3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for LAMA3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LAMA3
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| plasma membrane | 4 |
| endoplasmic reticulum | 4 |
| cytoskeleton | 3 |
| cytosol | 3 |
| nucleus | 2 |
| mitochondrion | 1 |
| lysosome | 1 |
| golgi apparatus | 0 |
- Endoplasmic reticulum (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005604 | basement membrane | TAS | 8586427 |
| GO:0005610 | laminin-5 complex | IEA,IBA | 21873635 |
| GO:0005783 | endoplasmic reticulum | IDA | -- |
| GO:0062023 | collagen-containing extracellular matrix | HDA | 27068509 |
Pathways & Interactions 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 |
.45
|
|
| 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 | ||
| 5 | Cell junction organization | ||
Pathways by source for LAMA3 Gene
6 BioSystems pathways for LAMA3 Gene
15 Reactome pathways for LAMA3 Gene
8 KEGG pathways for LAMA3 Gene
1 GeneGo (Thomson Reuters) pathway for LAMA3 Gene
- Cell adhesion_ECM remodeling
2 R&D Systems pathways for LAMA3 Gene
14 Qiagen pathways for LAMA3 Gene
- CDK5 Pathway
- ERK Signaling
- FAK1 Signaling
- GnRH Signaling
- ILK Signaling
Interacting Proteins for LAMA3 Gene
GPS-Prot Interaction Network for LAMA3
| 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 |
Drugs & Compounds for LAMA3 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Lanoteplase | Investigational | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for LAMA3 Gene
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 :
-
- ENST00000269217 5671 nts (view in UCSC)
- ENST00000313654 10661 nts (view in UCSC)
- ENST00000399516 9834 nts (view in UCSC)
- ENST00000585600 1815 nts (view in UCSC)
- ENST00000586709 637 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for LAMA3 - Select products 50% OFF >
- * LAMA3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for LAMA3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LAMA3
-
Santa Cruz Biotechnology (SCBT) CRISPR for LAMA3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LAMA3
- Browse OriGene Inhibitory RNA Products For LAMA3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LAMA3
Clone Products
- Applied Biological Materials (abm): Clones for LAMA3 - Select products 50% OFF >
- * LAMA3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for LAMA3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LAMA3
Relevant External Links for LAMA3 Gene
- GeneLoc Exon Structure for
- LAMA3
Expression for LAMA3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Tooth (Integumentary System)
- Early Ameloblasts Dental Enamel
- Primary Enamel Knot Cells Enamel Knot
- Inner Enamel Epithelial Cells Dental Enamel
- Stellate Reticulum Cells Dental Core
- Outer Enamel Epithelial Cells Dental Enamel
-
Epithelial Cells
- Early Ameloblasts Dental Enamel
- Basal Cells Trachea
- Inner Enamel Epithelial Cells Dental Enamel
- Outer Enamel Epithelial Cells Dental Enamel
-
Lung (Respiratory System)
- Basal Cells Trachea
-
Testis (Reproductive System)
- Elongated Spermatid Seminiferous Tubules
-
Gonad
- Elongated Spermatid Seminiferous Tubules
- Epidermis (Integumentary System)
- Hair
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.436367mRNA 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(4.6)
- Lung(4)
- Adrenal gland(3.9)
- Heart(3.7)
- Intestine(3.3)
- Gall bladder(3.3)
- Liver(3.3)
- Kidney(3)
- Pancreas(2.9)
- Eye(2.8)
- Nervous system(2.6)
- Blood(2.3)
- Stomach(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
Primer Products
-
OriGene qPCR primer pairs for LAMA3
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | LAMA3 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | LAMA3 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | LAMA3 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Lama3 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Lama3 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | LAMA3 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Chicken (Gallus gallus) |
Aves | LAMA3 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | LAMA3 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | lama3 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LAMA3 (1 of 2) 31 |
|
OneToMany | |
| lama3 31 |
|
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
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
Variants for LAMA3 Gene
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 |
|---|---|---|---|---|---|
| 650425 | Likely Pathogenic: not provided | 23,914,562(+) | G/T | SPLICE_DONOR_VARIANT | |
| 653457 | Pathogenic: not provided | 23,946,244(+) | C/T | MISSENSE_VARIANT | |
| 653552 | Pathogenic: not provided | 23,949,809(+) | GC/G | FRAMESHIFT_VARIANT | |
| 707965 | Benign: not provided | 23,876,307(+) | G/T | MISSENSE_VARIANT | |
| 708962 | Conflicting Interpretations: Junctional epidermolysis bullosa gravis of Herlitz; Laryngo-onycho-cutaneous syndrome; not provided | 23,921,039(+) | C/T | SYNONYMOUS_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAMA3 Gene
Disorders for LAMA3 Gene
(39) MalaCards diseases for LAMA3 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| laryngoonychocutaneous syndrome |
|
|
| epidermolysis bullosa, junctional, herlitz type |
|
|
| epidermolysis bullosa, junctional, non-herlitz type |
|
|
| junctional epidermolysis bullosa |
|
|
| epidermolysis bullosa |
|
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 mutations 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 mutations affecting the gene represented in this entry.
Additional Disease Information for LAMA3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
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No data available for Genatlas for LAMA3 Gene
Publications for LAMA3 Gene
- 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 23
- 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 23
- A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa. (PMID: 7633458) Kivirikko S … Meneguzzi G (Human molecular genetics 1995) 3 4 23
- 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 23
- 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 23
ExternalLinks
Products for LAMA3 Gene
- Custom Antibody Services
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- OriGene Purified Proteins for LAMA3
- Search Origene for MassSpec and Protein Over-expression Lysates for LAMA3
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- Origene shrna, sirna, and RNAi products in human, mouse, rat for LAMA3
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- VectorBuilder Stable cell line generation for LAMA3
- antibodies-online: Show 41 available LAMA3 Antibodies ranked by validation data
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- antibodies-online: Show 14 available LAMA3 Elisa Kits ranked by validation data
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- antibodies-online: Show 3 available LAMA3 Proteins ranked by validation data
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- Horizon Cell Lines for LAMA3
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- Search GeneCopoeia for miRNA 3'UTR Target clone products for LAMA3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LAMA3
Sources for LAMA3 Gene
- (1) GeneCards
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