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Aliases for LAMC3 Gene

Aliases for LAMC3 Gene

  • Laminin, Gamma 3 2 3
  • Laminin-12 Subunit Gamma 3 4
  • Laminin-14 Subunit Gamma 3 4
  • Laminin-15 Subunit Gamma 3 4
  • OCCM 3 6
  • Laminin Subunit Gamma-3 3

External Ids for LAMC3 Gene

Summaries for LAMC3 Gene

Entrez Gene Summary for LAMC3 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 are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they 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 gamma chain isoform laminin, gamma 3. The gamma 3 chain is most similar to the gamma 1 chain, and contains all the 6 domains expected of the gamma chain. It is a component of laminin 12. The gamma 3 chain is broadly expressed in skin, heart, lung, and the reproductive tracts. In skin, it is seen within the basement membrane of the dermal-epidermal junction at points of nerve penetration. Gamma 3 is also a prominent element of the apical surface of ciliated epithelial cells of lung, oviduct, epididymis, ductus deferens, and seminiferous tubules. The distribution of gamma 3-containing laminins along ciliated epithelial surfaces suggests that the apical laminins are important in the morphogenesis and structural stability of the ciliated processes of these cells. [provided by RefSeq, Aug 2011]

GeneCards Summary for LAMC3 Gene

LAMC3 (Laminin, Gamma 3) is a Protein Coding gene. Diseases associated with LAMC3 include cortical malformations, occipital and occipital pachygyria and polymicrogyria. Among its related pathways are PI3K-Akt signaling pathway and Pathways in cancer. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is LAMC2.

UniProtKB/Swiss-Prot for LAMC3 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 LAMC3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAMC3 Gene

Genomics for LAMC3 Gene

Genomic Location for LAMC3 Gene

Start:
131,009,082 bp from pter
End:
131,094,473 bp from pter
Size:
85,392 bases
Orientation:
Plus strand

Genomic View for LAMC3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LAMC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAMC3 Gene

Regulatory Elements for LAMC3 Gene

Proteins for LAMC3 Gene

  • Protein details for LAMC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6N6-LAMC3_HUMAN
    Recommended name:
    Laminin subunit gamma-3
    Protein Accession:
    Q9Y6N6
    Secondary Accessions:
    • B1APX9
    • B1APY0
    • Q59H72

    Protein attributes for LAMC3 Gene

    Size:
    1575 amino acids
    Molecular mass:
    171227 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. Gamma-3 is a subunit of laminin-12 (laminin-213), laminin-14 (laminin-423) and laminin-15 (laminin-523)
    SequenceCaution:
    • Sequence=AAD36991.1; Type=Frameshift; Positions=598, 609; Evidence={ECO:0000305};

neXtProt entry for LAMC3 Gene

Proteomics data for LAMC3 Gene at MOPED

Post-translational modifications for LAMC3 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn87, Asn119, Asn295, Asn328, Asn631, Asn837, Asn980, and Asn1185

Other Protein References for LAMC3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for LAMC3 Gene

Domains for LAMC3 Gene

Gene Families for LAMC3 Gene

HGNC:
  • LAM :Laminins

UniProtKB/Swiss-Prot:

LAMC3_HUMAN
Domain:
  • The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure:
    • Q9Y6N6
  • Domain IV is globular:
    • Q9Y6N6
  • Contains 11 laminin EGF-like domains.:
    • Q9Y6N6
  • Contains 1 laminin IV type A domain.:
    • Q9Y6N6
  • Contains 1 laminin N-terminal domain.:
    • Q9Y6N6
genes like me logo Genes that share domains with LAMC3: view

Function for LAMC3 Gene

Molecular function for LAMC3 Gene

GENATLAS Biochemistry: laminin ,gamma 3 polypeptide,prominent element of the apical surface of cialiated epithelial cells of lung,oviduct,epididymis,ductus deferens,seminiferous tubules,also component of cutaneous basement membrane zone,heterotrimerizing (laminin 12) with alpha 2 and beta 1
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

Gene Ontology (GO) - Molecular Function for LAMC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity TAS 10225960
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with LAMC3: view

Phenotypes for LAMC3 Gene

genes like me logo Genes that share phenotypes with LAMC3: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for LAMC3 Gene

Localization for LAMC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAMC3 Gene

Secreted, extracellular space, extracellular matrix, basement membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LAMC3 Gene COMPARTMENTS Subcellular localization image for LAMC3 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for LAMC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix TAS 10225960
GO:0005604 basement membrane IEA --
GO:0016020 membrane TAS 10225960
genes like me logo Genes that share ontologies with LAMC3: view

Pathways for LAMC3 Gene

genes like me logo Genes that share pathways with LAMC3: view

Gene Ontology (GO) - Biological Process for LAMC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000904 cell morphogenesis involved in differentiation IEA --
GO:0007155 cell adhesion IEA --
GO:0007601 visual perception IEA --
GO:0014002 astrocyte development IEA --
GO:0030198 extracellular matrix organization TAS --
genes like me logo Genes that share ontologies with LAMC3: view

Transcripts for LAMC3 Gene

Unigene Clusters for LAMC3 Gene

Laminin, gamma 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LAMC3 Gene

No ASD Table

Relevant External Links for LAMC3 Gene

GeneLoc Exon Structure for
LAMC3
ECgene alternative splicing isoforms for
LAMC3

Expression for LAMC3 Gene

mRNA expression in normal human tissues for LAMC3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LAMC3 Gene

This gene is overexpressed in Cervix - Endocervix (5.0), Cervix - Ectocervix (4.4), and Lung (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for LAMC3 Gene

SOURCE GeneReport for Unigene cluster for LAMC3 Gene Hs.201805

mRNA Expression by UniProt/SwissProt for LAMC3 Gene

Q9Y6N6-LAMC3_HUMAN
Tissue specificity: Broadly expressed in: skin, heart, lung, and the reproductive tracts
genes like me logo Genes that share expressions with LAMC3: view

Orthologs for LAMC3 Gene

This gene was present in the common ancestor of animals.

Orthologs for LAMC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LAMC3 37
  • 99 (a)
OneToOne
LOC464805 36
  • 99.08 (n)
  • 98.71 (a)
dog
(Canis familiaris)
Mammalia LAMC3 36
  • 84.92 (n)
  • 82.13 (a)
LAMC3 37
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lamc3 36
  • 78.88 (n)
  • 75.71 (a)
Lamc3 16
Lamc3 37
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LAMC3 37
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LAMC3 37
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lamc3 36
  • 79.03 (n)
  • 76.42 (a)
chicken
(Gallus gallus)
Aves LAMC3 36
  • 65.98 (n)
  • 58.85 (a)
LAMC3 37
  • 57 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii lamc3 36
  • 54.16 (n)
  • 45.11 (a)
lamc3 37
  • 42 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta LanB2 37
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lam-2 37
  • 33 (a)
OneToMany
C54D1.5 38
  • 35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 37 (a)
OneToMany
Species with no ortholog for LAMC3:
  • 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)
  • cow (Bos Taurus)
  • 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)
  • lizard (Anolis carolinensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for LAMC3 Gene

ENSEMBL:
Gene Tree for LAMC3 (if available)
TreeFam:
Gene Tree for LAMC3 (if available)

Paralogs for LAMC3 Gene

Paralogs for LAMC3 Gene

Selected SIMAP similar genes for LAMC3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with LAMC3: view

Variants for LAMC3 Gene

Sequence variations from dbSNP and Humsavar for LAMC3 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs16404 -- 131,091,926(-) AGGGA(-/GT)GTGAC utr-variant-3-prime
rs710074 -- 131,091,908(-) CGGGG(G/T)CGAGT utr-variant-3-prime
rs710075 -- 131,092,441(-) CTGCT(A/G)AGAAC utr-variant-3-prime
rs710076 -- 131,092,514(-) CAGGA(A/G)TGGGC utr-variant-3-prime
rs710077 -- 131,092,678(-) CTGGT(A/G)GCCTG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for LAMC3 Gene

Variant ID Type Subtype PubMed ID
dgv2423e1 CNV Complex 17122850
nsv893963 CNV Loss 21882294
nsv831737 CNV Loss 17160897
nsv893969 CNV Loss 21882294
dgv8309n71 CNV Loss 21882294
nsv831738 CNV Loss 17160897
esv33889 CNV Gain 17666407
nsv415537 CNV Loss 16902084
nsv893973 CNV Gain 21882294
esv33161 CNV Gain 17666407
nsv893974 CNV Loss 21882294

Relevant External Links for LAMC3 Gene

HapMap Linkage Disequilibrium report
LAMC3
Human Gene Mutation Database (HGMD)
LAMC3

Disorders for LAMC3 Gene

(1) OMIM Diseases for LAMC3 Gene (604349)

UniProtKB/Swiss-Prot

LAMC3_HUMAN
  • Cortical malformations occipital (OCCM) [MIM:614115]: A disease in which affected individuals develop seizures, sometimes associated with transient visual changes. Brain MRI shows both pachygyria and polymicrogyria restricted to the lateral occipital lobes. {ECO:0000269 PubMed:21572413}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LAMC3

Genetic Association Database (GAD)
LAMC3
Human Genome Epidemiology (HuGE) Navigator
LAMC3
genes like me logo Genes that share disorders with LAMC3: view

Publications for LAMC3 Gene

  1. Characterization and expression of the laminin gamma3 chain: a novel, non-basement membrane-associated, laminin chain. (PMID: 10225960) Koch M. … Champliaud M.-F. (J. Cell Biol. 1999) 2 3 4
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 49
  3. Recessive LAMC3 mutations cause malformations of occipital cortical development. (PMID: 21572413) Barak T. … Gunel M. (Nat. Genet. 2011) 3 4
  4. Structural analysis and mutation detection strategy for the human LAMC3 gene. (PMID: 11162474) Cserhalmi-Friedman P.B. … Christiano A.M. (Biochem. Biophys. Res. Commun. 2001) 3 23
  5. A new nomenclature for the laminins. (PMID: 7921537) Burgeson R.E. … Sanes J. (Matrix Biol. 1994) 3

Products for LAMC3 Gene

Sources for LAMC3 Gene

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