Aliases for LAMB3 Gene
Aliases for LAMB3 Gene
External Ids for LAMB3 Gene
- HGNC: 6490
- Entrez Gene: 3914
- Ensembl: ENSG00000196878
- OMIM: 150310
- UniProtKB: Q13751
Previous HGNC Symbols for LAMB3 Gene
- LAMNB1
Previous GeneCards Identifiers for LAMB3 Gene
- GC01M208427
- GC01M205494
- GC01M206427
- GC01M206867
- GC01M206176
- GC01M207854
- GC01M209788
- GC01M180463
Summaries for LAMB3 Gene
-
The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for LAMB3 Gene
LAMB3 (Laminin Subunit Beta 3) is a Protein Coding gene. Diseases associated with LAMB3 include Epidermolysis Bullosa, Junctional, Herlitz Type and Epidermolysis Bullosa, Junctional, Non-Herlitz Type. Among its related pathways are Phospholipase-C Pathway and Degradation of the extracellular matrix. GO annotations related to this gene include structural molecule activity and protein complex binding. An important paralog of this gene is LAMB2.
UniProtKB/Swiss-Prot for LAMB3 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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAMB3 Gene
Genomics for LAMB3 Gene
Regulatory Elements for LAMB3 Gene
Enhancers for LAMB3 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around LAMB3 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the LAMB3 gene promoter:
Regulatory Element Products
Genomic Location for LAMB3 Gene
- Chromosome:
- 1
- Start:
- 209,614,870 bp from pter
- End:
- 209,652,475 bp from pter
- Size:
- 37,606 bases
- Orientation:
- Minus strand
Genomic View for LAMB3 Gene
Genes around LAMB3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q32.2 by Ensembl
- 1q32.2 by Entrez Gene
- 1q32.2 by HGNC
LAMB3 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 LAMB3 Gene
Proteins for LAMB3 Gene
-
Protein details for LAMB3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q13751-LAMB3_HUMAN
- Recommended name:
- Laminin subunit beta-3
- Protein Accession:
- Q13751
- D3DT88
- O14947
- Q14733
- Q9UJK4
- Q9UJL1
Protein attributes for LAMB3 Gene
- Size:
- 1172 amino acids
- Molecular mass:
- 129572 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. Beta-3 is a subunit of laminin-5 (laminin-332 or epiligrin/kalinin/nicein). Interacts with ECM1.
Protein Expression for LAMB3 Gene
Post-translational modifications for LAMB3 Gene
Other Protein References for LAMB3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for LAMB3
- Novus Biologicals Antibodies for LAMB3
-
Abcam antibodies for LAMB3
-
Cloud-Clone Corp. Antibodies for LAMB3
- Invitrogen Antibodies for LAMB3
- antibodies-online Antibodies for LAMB3: See all 52
- GeneTex LAMB3 antibody for LAMB3
-
Santa Cruz Biotechnology (SCBT) Antibodies for LAMB3
Protein Products
-
OriGene Purified Proteins for LAMB3
- Search Origene for MassSpec and Protein Over-expression Lysates for LAMB3
- Origene Custom Protein Services for LAMB3
- Novus Biologicals proteins for LAMB3
-
Cloud-Clone Corp. Proteins for LAMB3
- antibodies-online Proteins for LAMB3: See all 14
- Search antibodies-online for peptides
- Search GeneTex for Proteins for LAMB3
-
Abcam proteins for LAMB3
No data available for DME Specific Peptides for LAMB3 Gene
Domains & Families for LAMB3 Gene
Gene Families for LAMB3 Gene
- HGNC:
Protein Domains for LAMB3 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for LAMB3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q13751UniProtKB/Swiss-Prot:
LAMB3_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 VI is globular.
Function for LAMB3 Gene
Molecular function for LAMB3 Gene
- GENATLAS Biochemistry:
- laminin 5 (kalinin/nicein),beta 3 polypeptide,component of cutaneous basement membrane zone,expressed in stratifying squamous epithelium
- 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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005198 | structural molecule activity | NAS | 7550320 |
| GO:0005515 | protein binding | IPI | 19275936 |
| GO:0032403 | protein complex binding | IEA | -- |
Phenotypes for LAMB3 Gene
- MGI mutant phenotypes for LAMB3:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for LAMB3:
Animal Models for LAMB3 Gene
- MGI Knock Outs for LAMB3:
-
- Lamb3 tm1b(KOMP)Wtsi
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for LAMB3
-
-
ViGene Biosciences lentiviral particle packaged cDNA for LAMB3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for LAMB3 gene
- Search ViGene Biosciences for LAMB3
CRISPR Products
-
OriGene CRISPR knockouts for LAMB3
-
Santa Cruz Biotechnology (SCBT) CRISPR for LAMB3
- GenScript: Design CRISPR guide RNA sequences for LAMB3
miRNA for LAMB3 Gene
- miRTarBase miRNAs that target LAMB3
miRNA Products
- Search ViGene Biosciences for LAMB3
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for LAMB3
- Browse OriGene Inhibitory RNA Products For LAMB3
-
ViGene Biosciences ready-to-package AAV shRNAs for LAMB3 gene
Clone Products
- Sino Biological Human cDNA Clone for LAMB3
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for LAMB3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for LAMB3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
- ESI BIO PureStem ES-209, Meso-prx/latp Progenitor for LAMB3
-
Horizon Cell Lines for LAMB3
-
ViGene Biosciences adenoviral particle packaged cDNA for LAMB3 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for LAMB3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for LAMB3 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LAMB3 Gene
Localization for LAMB3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for LAMB3 Gene
- Secreted, extracellular space, extracellular matrix, basement membrane.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| mitochondrion | 2 |
| nucleus | 2 |
| cytosol | 2 |
| peroxisome | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005578 | proteinaceous extracellular matrix | IEA | -- |
| GO:0005604 | basement membrane | IEA | -- |
| GO:0005610 | laminin-5 complex | IEA | -- |
Pathways & Interactions for LAMB3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Integrin Pathway |
.67
.67
.56
|
.56
|
| 2 | ERK Signaling |
.61
.58
|
.49
|
| 3 | MET promotes cell motility |
.45
|
|
| 4 | Collagen chain trimerization | ||
| 5 | Cell junction organization | ||
Pathways by source for LAMB3 Gene
2 BioSystems pathways for LAMB3 Gene
14 Reactome pathways for LAMB3 Gene
7 KEGG pathways for LAMB3 Gene
1 GeneGo (Thomson Reuters) pathway for LAMB3 Gene
14 Qiagen pathways for LAMB3 Gene
Interacting Proteins for LAMB3 Gene
Selected Interacting proteins:
ENSP00000348384
Q13751-LAMB3_HUMAN
for LAMB3 Gene via
STRING
IID
MINT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007155 | cell adhesion | IEA | -- |
| GO:0008544 | epidermis development | TAS | 7774918 |
| GO:0022617 | extracellular matrix disassembly | TAS | -- |
| GO:0030198 | extracellular matrix organization | TAS | -- |
| GO:0031581 | hemidesmosome assembly | TAS | -- |
Transcripts for LAMB3 Gene
mRNA/cDNA for LAMB3 Gene
- (5) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (248) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for LAMB3 Gene
- Laminin, beta 3:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for LAMB3
-
Santa Cruz Biotechnology (SCBT) CRISPR for LAMB3
- GenScript: Design CRISPR guide RNA sequences for LAMB3
miRNA Products
- Search ViGene Biosciences for LAMB3
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for LAMB3
- Browse OriGene Inhibitory RNA Products For LAMB3
-
ViGene Biosciences ready-to-package AAV shRNAs for LAMB3 gene
Clone Products
- Sino Biological Human cDNA Clone for LAMB3
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for LAMB3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for LAMB3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13 | ^ | 14a | · | 14b | ^ | 15a | · | 15b | · | 15c | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP17: |
| ExUns: | 16a | · | 16b | · | 16c | · | 16d | ^ | 17 | ^ | 18a | · | 18b | ^ | 19a | · | 19b | · | 19c | ^ | 20a | · | 20b | · | 20c | ^ | 21 | ^ | 22 | ^ | 23a | · | 23b | ^ | 24 | ^ | 25 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||||||||
| SP10: | - | ||||||||||||||||||||||||||||||||||||
| SP11: | - | ||||||||||||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||||||||||||
| SP13: | - | ||||||||||||||||||||||||||||||||||||
| SP14: | |||||||||||||||||||||||||||||||||||||
| SP15: | |||||||||||||||||||||||||||||||||||||
| SP16: | |||||||||||||||||||||||||||||||||||||
| SP17: |
Expression for LAMB3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Tooth (Integumentary System)
- Early Ameloblasts Dental Enamel
- Dental Placode Cells Dental Placode
- Primary Enamel Knot Cells Enamel Knot
- Inner Enamel Epithelial Cells Dental Enamel
- Stellate Reticulum Cells Dental Core
-
Epithelial Cells
- Early Ameloblasts Dental Enamel
- Basal Cells Trachea
- Dental Placode Cells Dental Placode
- Inner Enamel Epithelial Cells Dental Enamel
- Outer Enamel Epithelial Cells Dental Enamel
- Brain (Nervous System)
- Epidermis (Integumentary System)
-
Hair (Integumentary System)
- Bulge Stem Cells Bulge
- Basal Keratinocytes Embryonic Epidermis
- human epithelial stem cells(Yang R et. al. 2014)
- Kidney (Urinary System)
-
Lung (Respiratory System)
- Basal Cells Trachea
-
Testis (Reproductive System)
- Elongated Spermatid Seminiferous Tubules
-
Gonad
- Elongated Spermatid Seminiferous Tubules
- NULL (Uncategorized)
mRNA differential expression in normal tissues according to GTEx for LAMB3 Gene
This gene is overexpressed in Minor Salivary Gland (x5.7), Esophagus - Mucosa (x4.7), Skin - Not Sun Exposed (Suprapubic) (x4.1), and Skin - Sun Exposed (Lower leg) (x4.0).
This gene is overexpressed in Islet of Langerhans (20.4), Lung (19.1), Prostate (7.9), and Ovary (7.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LAMB3 Gene
NURSA nuclear receptor signaling pathways regulating expression of LAMB3 Gene:
LAMB3SOURCE GeneReport for Unigene cluster for LAMB3 Gene:
Hs.497636mRNA Expression by UniProt/SwissProt for LAMB3 Gene:
Q13751-LAMB3_HUMAN
Tissue specificity:
Found in the basement membranes (major component).
Evidence on tissue expression from TISSUES for LAMB3 Gene
- Skin(4.7)
- Eye(4)
- Lung(2.9)
Phenotype-based relationships between genes and organs from Gene ORGANizer for LAMB3 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- respiratory
- skeleton
Organs:
Head and neck:
- brain
- epiglottis
- head
- jaw
- larynx
- mandible
- maxilla
- mouth
- neck
- skull
- tooth
- vocal cord
Thorax:
- 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 and template standards for LAMB3
-
OriGene qPCR primer pairs for LAMB3
No data available for Protein tissue co-expression partners for LAMB3 Gene
Orthologs for LAMB3 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | LAMB3 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | LAMB3 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | LAMB3 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Lamb3 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Lamb3 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | LAMB3 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | LAMB3 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | LAMB3 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | LAMB3 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | lamb3 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LAMB3 35 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.5480 35 |
|
OneToOne |
- Species where no ortholog for LAMB3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 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)
Paralogs for LAMB3 Gene
Variants for LAMB3 Gene
| SNP ID | Clin | Chr 01 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs121912482 | Pathogenic, Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650] | 209,633,070(-) | TTCAA(A/G)GTCAG | reference, missense | |
| rs121912486 | Pathogenic, Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650] | 209,633,102(-) | GTCTG(C/G)GATTC | reference, missense | |
| rs121912487 | Pathogenic, Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650] | 209,633,079(-) | GTCAA(A/C)AAATT | reference, missense | |
| rs200895463 | A colorectal cancer sample | 209,627,520(+) | GCAGC(A/G)CCCAC | reference, missense | |
| rs201223111 | Epidermolysis bullosa, junctional, Herlitz type (H-JEB) [MIM:226700] | 209,623,941(+) | CTCTC(A/G)GAAGG | upstream-variant-2KB, reference, missense |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv143e212 | CNV | loss | 25503493 |
| esv2762140 | CNV | loss | 21179565 |
Residual Variation Intolerance Score:
98.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
10.94;
91.95% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for LAMB3 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAMB3 Gene
Disorders for LAMB3 Gene
(12) MalaCards diseases for LAMB3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epidermolysis bullosa, junctional, herlitz type |
|
|
| epidermolysis bullosa, junctional, non-herlitz type |
|
|
| amelogenesis imperfecta, type ia |
|
|
| hypoplastic amelogenesis imperfecta |
|
|
| lamb3-related junctional epidermolysis bullosa |
|
|
Search LAMB3 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
LAMB3_HUMAN- Amelogenesis imperfecta 1A (AI1A) [MIM:104530]: A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. {ECO:0000269 PubMed:23632796, ECO:0000269 PubMed:23958762}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- 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:7550237}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]: A non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities. {ECO:0000269 PubMed:17476356, ECO:0000269 PubMed:9767254}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for LAMB3
No data available for Genatlas for LAMB3 Gene
Publications for LAMB3 Gene
- Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa. (PMID: 7774918) Pulkkinen L. … Uitto J. (Genomics 1995) 2 3 4 22 64
- Polymorphisms involved in the miR-218-LAMB3 pathway and susceptibility of cervical cancer, a case-control study in Chinese women. (PMID: 20163849) Zhou X. … Hu Z. (Gynecol. Oncol. 2010) 3 22 46 64
- Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. (PMID: 17476356) Pasmooij A.M.G. … Jonkman M.F. (J. Clin. Invest. 2007) 3 4 22 64
- Evaluation of the ARMD1 locus on 1q25-31 in patients with age-related maculopathy: genetic variation in laminin genes and in exon 104 of HEMICENTIN-1. (PMID: 15370542) Hayashi M. … Allikmets R. (Ophthalmic Genet. 2004) 3 22 46 64
- In vivo restoration of laminin 5 beta 3 expression and function in junctional epidermolysis bullosa. (PMID: 11296269) Robbins P.B. … Khavari P.A. (Proc. Natl. Acad. Sci. U.S.A. 2001) 3 4 22 64
Products for LAMB3 Gene
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- Custom Antibody ServicesOriGene Antibodies for LAMB3
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for LAMB3
- Search Origene for MassSpec and Protein Over-expression Lysates for LAMB3
- Origene Custom Protein Services for LAMB3
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for LAMB3
- Browse OriGene Inhibitory RNA Products For LAMB3
- OriGene qPCR primer pairs and template standards for LAMB3
- OriGene qPCR primer pairs for LAMB3
- OriGene CRISPR knockouts for LAMB3
- OriGene ORF clones in human for LAMB3
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For LAMB3
- GenScript: Next-day shipping cDNA ORF clone for LAMB3 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for LAMB3
- GenScript Custom Assay Services for LAMB3
- GenScript Custom overexpressing Cell Line Services for LAMB3
- GenScript: Design CRISPR guide RNA sequences for LAMB3
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for LAMB3
- Sino Biological Human cDNA Clone for LAMB3
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- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for LAMB3
- Novus Biologicals proteins for LAMB3
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- Abcam antibodies for LAMB3
- Abcam proteins for LAMB3
- Search for Assays for LAMB3 at Abcam
- Find your target
- Search knockout validated antibodies
- Browse monoclonal antibodies
- Cloud-Clone Corp. Antibodies for LAMB3
- Cloud-Clone Corp. Proteins for LAMB3
- Cloud-Clone Corp Assay Kits for LAMB3
- ESI BIO PureStem ES-209, Meso-prx/latp Progenitor for LAMB3
- antibodies-online Antibodies for LAMB3: See all 52
- antibodies-online Kits for LAMB3: See all 5
- antibodies-online Proteins for LAMB3: See all 14
- Search antibodies-online for peptides
- GeneTex LAMB3 antibody for LAMB3
- Search GeneTex for Proteins for LAMB3
- ViGene Biosciences adenoviral particle packaged cDNA for LAMB3 gene
- ViGene Biosciences lentiviral particle packaged cDNA for LAMB3 gene
- ViGene Biosciences ready-to-package AAV shRNAs for LAMB3 gene
- Search ViGene Biosciences for LAMB3
- Santa Cruz Biotechnology (SCBT) Antibodies for LAMB3
- Search Santa Cruz Biotechnology (SCBT) for LAMB3 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for LAMB3
- Horizon Cell Lines for LAMB3
- Cyagen custom Knockout/knockin (KOKI) mouse models for LAMB3
- VectorBuilder custom plasmid, inducible vectors for LAMB3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for LAMB3
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for LAMB3 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
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- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
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- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
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- (141) ENCODE
- (142) ProSci
- (143) Horizon
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- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer