Free for academic non-profit institutions. Other users need a Commercial license

Aliases for LAMB3 Gene

Aliases for LAMB3 Gene

  • Laminin Subunit Beta 3 2 3 5
  • Laminin, Beta 3 (Nicein (125kD), Kalinin (140kD), BM600 (125kD)) 2 3
  • Epiligrin Subunit Bata 3 4
  • Laminin-5 Subunit Beta 3 4
  • Kalinin Subunit Beta 3 4
  • Nicein Subunit Beta 3 4
  • Laminin B1k Chain 3 4
  • Kalinin B1 Chain 3 4
  • LAMNB1 3 4
  • Laminin Subunit Beta-3 3
  • Laminin S B3 Chain 3
  • Laminin, Beta 3 2
  • Kalinin-140kDa 3
  • Laminin Beta 3 3
  • Nicein-125kDa 3
  • BM600-125KDA 3
  • AI1A 3
  • LAM5 3

External Ids for LAMB3 Gene

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

Entrez Gene Summary 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 ERK Signaling and Focal Adhesion. Gene Ontology (GO) annotations related to this gene include structural molecule activity. 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.

Gene Wiki entry for LAMB3 Gene

Additional gene information for LAMB3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAMB3 Gene

Genomics for LAMB3 Gene

GeneHancer (GH) Regulatory Elements for LAMB3 Gene

Promoters and enhancers for LAMB3 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
GH01J209644 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 690.9 -0.5 -519 16.6 HDGF FOXA2 PKNOX1 SMAD1 ARNT FEZF1 IRF4 YY1 ZNF766 FOS LAMB3 G0S2 HSD11B1 LOC101930114 CAMK1G ENSG00000224260 MIR205 MIR205HG IRF6 TRAF3IP3
GH01J209382 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 16.6 +265.7 265664 8.8 NANOG JUN CEBPB EP300 SP1 GATA3 JUND POLR2A SCRT2 FOSL2 LAMB3 MIR205HG MIR205 IRF6 TFDP1P LINC01698
GH01J209409 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 12.5 +238.8 238760 9.1 USF1 MAX SIN3A ZIC2 ZNF335 POLR2A ATF7 FOSL2 FOS RFX1 LAMB3 ENSG00000224260 IRF6 TFDP1P HSD11B1 MIR205HG LINC01698
GH01J209633 Enhancer 0.8 FANTOM5 dbSUPER 19.9 +19.0 18969 0.2 FOSL1 ZNF316 POLR2A MAFG NFE2 EMSY LAMB3 G0S2 CAMK1G HSD11B1 ENSG00000224260 LOC101930114 MIR4260
GH01J209366 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 12.4 +283.4 283430 5.1 JUND GATA3 ZNF316 POLR2A FOSL2 FOS MAFK LINC01698 LAMB3 MIR205HG MIR205 ENSG00000224260 IRF6 HSD11B1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LAMB3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LAMB3 gene promoter:
  • Nkx2-5
  • STAT3
  • TBP

Genomic Locations for LAMB3 Gene

Genomic Locations for LAMB3 Gene
chr1:209,614,870-209,652,475
(GRCh38/hg38)
Size:
37,606 bases
Orientation:
Minus strand
chr1:209,788,215-209,825,820
(GRCh37/hg19)
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:
LAMB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LAMB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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.

neXtProt entry for LAMB3 Gene

Post-translational modifications for LAMB3 Gene

  • Glycosylation at isoforms=810, isoforms=712, isoforms=604, and Asn220
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for LAMB3 Gene

Domains & Families for LAMB3 Gene

Gene Families for LAMB3 Gene

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

Protein Domains for LAMB3 Gene

Suggested Antigen Peptide Sequences for LAMB3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13751

UniProtKB/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.
genes like me logo Genes that share domains with LAMB3: view

Function for LAMB3 Gene

Molecular function for LAMB3 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.
GENATLAS Biochemistry:
laminin 5 (kalinin/nicein),beta 3 polypeptide,component of cutaneous basement membrane zone,expressed in stratifying squamous epithelium

Phenotypes From GWAS Catalog for LAMB3 Gene

Gene Ontology (GO) - Molecular Function for LAMB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity NAS 7550320
GO:0005515 protein binding IPI 19275936
GO:0044877 protein-containing complex binding IEA --
genes like me logo Genes that share ontologies with LAMB3: view
genes like me logo Genes that share phenotypes with LAMB3: view

Human Phenotype Ontology for LAMB3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LAMB3 Gene

MGI Knock Outs for LAMB3:
  • Lamb3 Lamb3<tm1b(KOMP)Wtsi>

Animal Model Products

miRNA for LAMB3 Gene

miRTarBase miRNAs that target LAMB3

Clone 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.

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 LAMB3 gene
Compartment Confidence
extracellular 5
mitochondrion 2
nucleus 2
cytosol 2
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LAMB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005604 basement membrane IEA --
GO:0005610 laminin-5 complex IEA --
genes like me logo Genes that share ontologies with LAMB3: view

Pathways & Interactions for LAMB3 Gene

genes like me logo Genes that share pathways with LAMB3: view

SIGNOR curated interactions for LAMB3 Gene

Activates:

Gene Ontology (GO) - Biological Process for LAMB3 Gene

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 --
genes like me logo Genes that share ontologies with LAMB3: view

Drugs & Compounds for LAMB3 Gene

(1) Additional Compounds for LAMB3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LAMB3: view

Transcripts for LAMB3 Gene

Unigene Clusters for LAMB3 Gene

Laminin, beta 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LAMB3 Gene

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: -
SP3: -
SP4:
SP5: - - - -
SP6: -
SP7:
SP8:
SP9:
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:

Relevant External Links for LAMB3 Gene

GeneLoc Exon Structure for
LAMB3
ECgene alternative splicing isoforms for
LAMB3

Expression for LAMB3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LAMB3 Gene

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).

Protein differential expression in normal tissues from HIPED for LAMB3 Gene

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, MaxQB, and MOPED for LAMB3 Gene



NURSA nuclear receptor signaling pathways regulating expression of LAMB3 Gene:

LAMB3

SOURCE GeneReport for Unigene cluster for LAMB3 Gene:

Hs.497636

mRNA 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
Regions:
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
genes like me logo Genes that share expression patterns with LAMB3: view

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.

Orthologs for LAMB3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LAMB3 34 33
  • 99.03 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LAMB3 34 33
  • 85.55 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LAMB3 34 33
  • 85.21 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Lamb3 16 34 33
  • 82.28 (n)
rat
(Rattus norvegicus)
Mammalia Lamb3 33
  • 82.12 (n)
oppossum
(Monodelphis domestica)
Mammalia LAMB3 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LAMB3 34
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves LAMB3 34 33
  • 62.38 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LAMB3 34
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lamb3 33
  • 58.01 (n)
zebrafish
(Danio rerio)
Actinopterygii LAMB3 34
  • 30 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5480 34
  • 33 (a)
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)

Evolution for LAMB3 Gene

ENSEMBL:
Gene Tree for LAMB3 (if available)
TreeFam:
Gene Tree for LAMB3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LAMB3: view image

Paralogs for LAMB3 Gene

Paralogs for LAMB3 Gene

(4) SIMAP similar genes for LAMB3 Gene using alignment to 2 proteins:

  • LAMB3_HUMAN
  • Q5THA1_HUMAN
genes like me logo Genes that share paralogs with LAMB3: view

Variants for LAMB3 Gene

Sequence variations from dbSNP and Humsavar for LAMB3 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1049607 benign, not specified, Epidermolysis bullosa, junctional 209,615,358(-) T/C coding_sequence_variant, synonymous_variant
rs1057516219 likely-pathogenic, Junctional epidermolysis bullosa gravis of Herlitz 209,625,801(-) C/CC coding_sequence_variant, frameshift
rs1057516241 likely-pathogenic, pathogenic, Junctional epidermolysis bullosa gravis of Herlitz, not provided 209,634,511(-) CTCT/CT coding_sequence_variant, frameshift, intron_variant
rs1057516249 likely-pathogenic, Junctional epidermolysis bullosa gravis of Herlitz 209,630,638(-) CCC/CC coding_sequence_variant, frameshift
rs1057516316 likely-pathogenic, Junctional epidermolysis bullosa gravis of Herlitz 209,629,840(-) A/T coding_sequence_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for LAMB3 Gene

Variant ID Type Subtype PubMed ID
dgv143e212 CNV loss 25503493
esv2762140 CNV loss 21179565

Variation tolerance for LAMB3 Gene

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)

Additional Variant Information for LAMB3 Gene

Human Gene Mutation Database (HGMD)
LAMB3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LAMB3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAMB3 Gene

Disorders for LAMB3 Gene

MalaCards: The human disease database

(11) MalaCards diseases for LAMB3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epidermolysis bullosa, junctional, herlitz type
  • epidermolysis bullosa junctionalis, herlitz type
epidermolysis bullosa, junctional, non-herlitz type
  • epidermolysis bullosa junctionalis, non-herlitz type
amelogenesis imperfecta, type ia
  • ai1a
hypoplastic amelogenesis imperfecta
  • amelogenesis imperfecta type 1
junctional epidermolysis bullosa
  • congenital junctional epidermolysis bullosa
- elite association - COSMIC cancer census association via MalaCards
Search LAMB3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LAMB3_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: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.
  • 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.

Additional Disease Information for LAMB3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LAMB3: view

No data available for Genatlas for LAMB3 Gene

Publications for LAMB3 Gene

  1. 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 58
  2. 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 (Gynecologic oncology 2010) 3 22 44 58
  3. Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. (PMID: 17476356) Pasmooij AM … Jonkman MF (The Journal of clinical investigation 2007) 3 4 22 58
  4. 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 genetics 2004) 3 22 44 58
  5. In vivo restoration of laminin 5 beta 3 expression and function in junctional epidermolysis bullosa. (PMID: 11296269) Robbins PB … Khavari PA (Proceedings of the National Academy of Sciences of the United States of America 2001) 3 4 22 58

Products for LAMB3 Gene

Sources for LAMB3 Gene

Content
Loading form....