Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1,... See more...

Aliases for LAMB2 Gene

Aliases for LAMB2 Gene

  • Laminin Subunit Beta 2 2 3 5
  • Laminin, Beta 2 (Laminin S) 2 3
  • Laminin Subunit Beta-2 3 4
  • S-Laminin Subunit Beta 3 4
  • Laminin B1s Chain 3 4
  • S-LAM Beta 3 4
  • Laminin S 2 3
  • NPHS5 2 3
  • LAMS 3 4
  • Laminin-11 Subunit Beta 4
  • Laminin-14 Subunit Beta 4
  • Laminin-15 Subunit Beta 4
  • Laminin-3 Subunit Beta 4
  • Laminin-4 Subunit Beta 4
  • Laminin-7 Subunit Beta 4
  • Laminin-9 Subunit Beta 4
  • LAMB2 5

External Ids for LAMB2 Gene

Previous HGNC Symbols for LAMB2 Gene

  • LAMS

Previous GeneCards Identifiers for LAMB2 Gene

  • GC03P046915
  • GC03P048475
  • GC03M049012
  • GC03M049117
  • GC03M049133
  • GC03M049163

Summaries for LAMB2 Gene

Entrez Gene Summary for LAMB2 Gene

  • Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 2. The beta 2 chain contains the 7 structural domains typical of beta chains of laminin, including the short alpha region. However, unlike beta 1 chain, beta 2 has a more restricted tissue distribution. It is enriched in the basement membrane of muscles at the neuromuscular junctions, kidney glomerulus and vascular smooth muscle. Transgenic mice in which the beta 2 chain gene was inactivated by homologous recombination, showed defects in the maturation of neuromuscular junctions and impairment of glomerular filtration. Alternative splicing involving a non consensus 5' splice site (gc) in the 5' UTR of this gene has been reported. It was suggested that inefficient splicing of this first intron, which does not change the protein sequence, results in a greater abundance of the unspliced form of the transcript than the spliced form. The full-length nature of the spliced transcript is not known. [provided by RefSeq, Aug 2011]

GeneCards Summary for LAMB2 Gene

LAMB2 (Laminin Subunit Beta 2) is a Protein Coding gene. Diseases associated with LAMB2 include Pierson Syndrome and Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities. Among its related pathways are Integrin Pathway and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include structural molecule activity and integrin binding. An important paralog of this gene is LAMB1.

UniProtKB/Swiss-Prot Summary for LAMB2 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 LAMB2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LAMB2 Gene

Genomics for LAMB2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LAMB2 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
GH03J049131 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +0.2 152 3.7 HNRNPL GATAD2A TEAD4 PRDM10 REST IKZF1 RFX5 JUND FOXA1 RBFOX2 HSALNG0025914 LAMB2 piR-51473 USP19
GH03J049135 Promoter/Enhancer 1 Ensembl dbSUPER 600.7 -2.0 -1983 0.2 HNRNPL RXRB SP1 TCF12 NR2C2 MAFK NR2F2 NR2F1 TCF7L2 SMAD4 LAMB2 HSALNG0025914 lnc-CCDC71-1 LAMB2P1 CCDC71
GH03J049170 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.5 -39.8 -39798 5 HNRNPL GATAD2A CTCF PRDM10 TFE3 RFX1 LEF1 IKZF1 ZNF692 RCOR2 KLHDC8B WDR6 AMT IHO1 LAMB2 C3orf62 USP4 QARS1 piR-33422-275 C3orf84
GH03J049467 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 -336.8 -336833 5.3 SP1 GATAD2A HNRNPL TEAD4 PRDM10 ZNF629 LEF1 IKZF1 ZNF692 POLR2A DAG1 lnc-BSN-1 AMT ENSG00000235236 WDR6 RBM5 RBM6 QRICH1 IP6K2 LAMB2
GH03J049408 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.9 -280.2 -280214 9.9 SP1 GATAD2A CTCF PRDM10 NFKBIZ KDM1A ZNF692 POLR2A BACH1 TARDBP AMT TCTA RHOA lnc-RHOA-1 WDR6 INKA1 RNA5SP130 DAG1 USP4 KLHDC8B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LAMB2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LAMB2

Top Transcription factor binding sites by QIAGEN in the LAMB2 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • FOXF2

Genomic Locations for LAMB2 Gene

Genomic Locations for LAMB2 Gene
chr3:49,121,114-49,133,118
(GRCh38/hg38)
Size:
12,005 bases
Orientation:
Minus strand
chr3:49,158,547-49,170,599
(GRCh37/hg19)
Size:
12,053 bases
Orientation:
Minus strand

Genomic View for LAMB2 Gene

Genes around LAMB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LAMB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LAMB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAMB2 Gene

Proteins for LAMB2 Gene

  • Protein details for LAMB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55268-LAMB2_HUMAN
    Recommended name:
    Laminin subunit beta-2
    Protein Accession:
    P55268
    Secondary Accessions:
    • Q16321

    Protein attributes for LAMB2 Gene

    Size:
    1798 amino acids
    Molecular mass:
    195981 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-2 is a subunit of laminin-3 (laminin-121 or S-laminin), laminin-4 (laminin-221 or S-merosin), laminin-7 (laminin-321 or KS-laminin), laminin-9 (laminin-421), laminin-11 (laminin-521), laminin-14 (laminin-423) and laminin-15 (laminin-523).

neXtProt entry for LAMB2 Gene

Post-translational modifications for LAMB2 Gene

  • Glycosylation at Asn248, Asn368, Asn1085, Asn1249, Asn1308, Asn1348, and Asn1499
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • LAMB2_HUMAN (1443)

Other Protein References for LAMB2 Gene

No data available for DME Specific Peptides for LAMB2 Gene

Domains & Families for LAMB2 Gene

Gene Families for LAMB2 Gene

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

Protein Domains for LAMB2 Gene

InterPro:
Blocks:
  • Laminin-type EGF-like domain
ProtoNet:

Suggested Antigen Peptide Sequences for LAMB2 Gene

GenScript: Design optimal peptide antigens:
  • S-laminin subunit beta (LAMB2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P55268

UniProtKB/Swiss-Prot:

LAMB2_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.
  • Domains VI and IV are globular.
genes like me logo Genes that share domains with LAMB2: view

Function for LAMB2 Gene

Molecular function for LAMB2 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,beta 2 polypeptide,component of basement membrane of skeletal muscle neuromuscular junction,kidney glomerulus,nerve fascicle perineurium,vascular smooth muscle,paralog to LAMB1

Phenotypes From GWAS Catalog for LAMB2 Gene

Gene Ontology (GO) - Molecular Function for LAMB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding IEA,IBA 21873635
GO:0005198 structural molecule activity NAS 7698745
GO:0005201 extracellular matrix structural constituent RCA 20551380
genes like me logo Genes that share ontologies with LAMB2: view
genes like me logo Genes that share phenotypes with LAMB2: view

Human Phenotype Ontology for LAMB2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LAMB2 Gene

MGI Knock Outs for LAMB2:

Animal Model Products

CRISPR Products

miRNA for LAMB2 Gene

miRTarBase miRNAs that target LAMB2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LAMB2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LAMB2 Gene

Localization for LAMB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAMB2 Gene

Secreted, extracellular space, extracellular matrix, basement membrane. Note=S-laminin is concentrated in the synaptic cleft of the neuromuscular junction.

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 LAMB2 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
plasma membrane 3
cytosol 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LAMB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005604 basement membrane TAS,IDA 2099832
GO:0005608 laminin-3 complex IEA,IPI 10964500
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0031594 neuromuscular junction IEA --
genes like me logo Genes that share ontologies with LAMB2: view

Pathways & Interactions for LAMB2 Gene

PathCards logo

SuperPathways for LAMB2 Gene

SuperPathway Contained pathways
1 Integrin Pathway
.67
.67
.56
.56
.50
.38
2 MET promotes cell motility
3 ERK Signaling
.61
.61
.58
.51
.49
4 Focal Adhesion
5 PI3K-Akt signaling pathway
genes like me logo Genes that share pathways with LAMB2: view

Gene Ontology (GO) - Biological Process for LAMB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000904 cell morphogenesis involved in differentiation IEA --
GO:0007155 cell adhesion IEA --
GO:0007411 axon guidance IEA --
GO:0007528 neuromuscular junction development IEA --
GO:0007601 visual perception IEA --
genes like me logo Genes that share ontologies with LAMB2: view

No data available for SIGNOR curated interactions for LAMB2 Gene

Drugs & Compounds for LAMB2 Gene

(3) Drugs for LAMB2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for LAMB2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LAMB2: view

Transcripts for LAMB2 Gene

mRNA/cDNA for LAMB2 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LAMB2

Alternative Splicing Database (ASD) splice patterns (SP) for LAMB2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a ·
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: - - - - - -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19: - - - - - - - - - - - - - - -
SP20: - - - - - - - - - - - - - - - - - - - -
SP21:

ExUns: 17b ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31a · 31b ^ 32 ^ 33 ^ 34 ^
SP1:
SP2:
SP3:
SP4: -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: -
SP15:
SP16:
SP17:
SP18: - - - - -
SP19:
SP20: - - - - - -
SP21: -

ExUns: 35 ^ 36 ^ 37a · 37b · 37c ^ 38 ^ 39 ^ 40a · 40b · 40c ^ 41
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: - -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:

Relevant External Links for LAMB2 Gene

GeneLoc Exon Structure for
LAMB2

Expression for LAMB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LAMB2 Gene

Protein differential expression in normal tissues from HIPED for LAMB2 Gene

This gene is overexpressed in Adipocyte (22.0) and Urinary Bladder (21.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LAMB2 Gene



Protein tissue co-expression partners for LAMB2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LAMB2

SOURCE GeneReport for Unigene cluster for LAMB2 Gene:

Hs.439726

Evidence on tissue expression from TISSUES for LAMB2 Gene

  • Liver(4.6)
  • Nervous system(4.3)
  • Gall bladder(4.2)
  • Lung(3.9)
  • Intestine(3.8)
  • Eye(3.7)
  • Heart(3.5)
  • Skin(3.3)
  • Muscle(3.2)
  • Kidney(3)
  • Stomach(2.8)
  • Pancreas(2.7)
  • Spleen(2.6)
  • Lymph node(2.4)
  • Adrenal gland(2.3)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LAMB2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • larynx
  • mouth
  • neck
  • pharynx
  • vocal cord
Thorax:
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
Abdomen:
  • kidney
  • stomach
Pelvis:
  • pelvis
  • penis
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with LAMB2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for LAMB2 Gene

Orthologs for LAMB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for LAMB2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LAMB2 30 31
  • 97.77 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LAMC1 31
  • 89 (a)
OneToOne
LAMB2 30
  • 87.53 (n)
Dog
(Canis familiaris)
Mammalia LAMB2 30 31
  • 88.99 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Lamb2 30 17 31
  • 85.88 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lamb2 30
  • 85.11 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia LAMB2 31
  • 78 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia LAMB2 31
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LAMB2 30 31
  • 66.55 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LAMB2 31
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lamb2 30
  • 62.41 (n)
Zebrafish
(Danio rerio)
Actinopterygii lamb2 30 31
  • 62.38 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10035 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001381 30
  • 50.22 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta LanB1 30 31 32
  • 49.36 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea lam-1 30 31 32
  • 47.04 (n)
OneToMany
Species where no ortholog for LAMB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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)

Evolution for LAMB2 Gene

ENSEMBL:
Gene Tree for LAMB2 (if available)
TreeFam:
Gene Tree for LAMB2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LAMB2: view image

Paralogs for LAMB2 Gene

(6) SIMAP similar genes for LAMB2 Gene using alignment to 2 proteins:

  • LAMB2_HUMAN
  • F5H520_HUMAN
genes like me logo Genes that share paralogs with LAMB2: view

Variants for LAMB2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LAMB2 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
635507 Likely Pathogenic: Nephrotic syndrome, type 5, with or without ocular abnormalities 49,125,081(-) G/A MISSENSE_VARIANT
638942 Uncertain Significance: Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities 49,131,071(-) T/G MISSENSE_VARIANT
639510 Uncertain Significance: Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities 49,121,990(-) C/T MISSENSE_VARIANT
640917 Uncertain Significance: Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities 49,126,132(-) G/C MISSENSE_VARIANT
642849 Uncertain Significance: Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities 49,129,716(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for LAMB2 Gene

Structural Variations from Database of Genomic Variants (DGV) for LAMB2 Gene

Variant ID Type Subtype PubMed ID
esv3340652 CNV duplication 20981092
nsv1127958 CNV deletion 24896259
nsv834686 CNV loss 17160897

Variation tolerance for LAMB2 Gene

Residual Variation Intolerance Score: 62.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.75; 78.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LAMB2 Gene

Human Gene Mutation Database (HGMD)
LAMB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LAMB2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAMB2 Gene

Disorders for LAMB2 Gene

MalaCards: The human disease database

(23) MalaCards diseases for LAMB2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pierson syndrome
  • microcoria-congenital nephrotic syndrome
nephrotic syndrome, type 5, with or without ocular abnormalities
  • nphs5
myasthenic syndrome, congenital, 5
  • cms5
nephrotic syndrome
  • finnish congenital nephrotic syndrome
focal segmental glomerulosclerosis
  • fgs
- elite association - COSMIC cancer census association via MalaCards
Search LAMB2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LAMB2_HUMAN
  • Pierson syndrome (PIERSS) [MIM:609049]: Characterized by nephrotic syndrome with neonatal onset, diffuse mesangial sclerosis and eye abnormalities with microcoria as the leading clinical feature. Death usually occurs within the first weeks of life. Disease severity depends on the mutation type: nontruncating LAMB2 mutations may display variable phenotypes ranging from a milder variant of Pierson syndrome to isolated congenital nephrotic syndrome. {ECO:0000269 PubMed:15367484, ECO:0000269 PubMed:16912710}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Nephrotic syndrome 5 with or without ocular abnormalities (NPHS5) [MIM:614199]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. NPHS5 is characterized by very early onset of progressive renal failure. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus. {ECO:0000269 PubMed:20798252, ECO:0000269 PubMed:21236492}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for LAMB2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with LAMB2: view

No data available for Genatlas for LAMB2 Gene

Publications for LAMB2 Gene

  1. Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. (PMID: 16912710) Hasselbacher K … Hildebrandt F (Kidney international 2006) 3 4 23
  2. The human laminin beta 2 chain (S-laminin): structure, expression in fetal tissues and chromosomal assignment of the LAMB2 gene. (PMID: 7795887) Iivanainen A … Tryggvason K (Matrix biology : journal of the International Society for Matrix Biology 1995) 3 4 23
  3. Human beta 2 chain of laminin (formerly S chain): cDNA cloning, chromosomal localization, and expression in carcinomas. (PMID: 7698745) Wewer UM … Albrechtsen R (Genomics 1994) 3 4 23
  4. A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. (PMID: 21236492) Mohney BG … Harris PC (Ophthalmology 2011) 3 4
  5. Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. (PMID: 19367581) So HC … Sham PC (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 41

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Sources for LAMB2 Gene