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Aliases for LAMC3 Gene

Aliases for LAMC3 Gene

  • Laminin Subunit Gamma 3 2 3 5
  • Laminin-12 Subunit Gamma 3 4
  • Laminin-14 Subunit Gamma 3 4
  • Laminin-15 Subunit Gamma 3 4
  • Laminin, Gamma 3 2 3
  • Laminin Subunit Gamma-3 3
  • OCCM 3

External Ids for LAMC3 Gene

Previous GeneCards Identifiers for LAMC3 Gene

  • GC09P124899
  • GC09P125431
  • GC09P127238
  • GC09P129160
  • GC09P130914
  • GC09P132874
  • GC09P133884
  • GC09P103375

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 Subunit Gamma 3) is a Protein Coding gene. Diseases associated with LAMC3 include Cortical Malformations, Occipital and Tooth Resorption. Among its related pathways are Pathways in cancer and Integrin Pathway. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is LAMC1.

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

Regulatory Elements for LAMC3 Gene

Enhancers for LAMC3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around LAMC3 on UCSC Golden Path with GeneCards custom track

Promoters for LAMC3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LAMC3 on UCSC Golden Path with GeneCards custom track

Genomic Location for LAMC3 Gene

Chromosome:
9
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

Genes around LAMC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LAMC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LAMC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for LAMC3 Gene

  • Glycosylation at Asn 87, Asn 119, Asn 295, Asn 328, Asn 631, Asn 837, Asn 980, and Asn 1185
  • Modification sites at PhosphoSitePlus

Other Protein References for LAMC3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cloud-Clone Corp. Antibodies for LAMC3

No data available for DME Specific Peptides for LAMC3 Gene

Domains & Families for LAMC3 Gene

Gene Families for LAMC3 Gene

Suggested Antigen Peptide Sequences for LAMC3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y6N6

UniProtKB/Swiss-Prot:

LAMC3_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 IV is globular.
  • Contains 11 laminin EGF-like domains.
  • Contains 1 laminin IV type A domain.
  • Contains 1 laminin N-terminal domain.
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
genes like me logo Genes that share ontologies with LAMC3: view
genes like me logo Genes that share phenotypes with LAMC3: view

Human Phenotype Ontology for LAMC3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LAMC3 Gene

MGI Knock Outs for LAMC3:

Animal Model Products

  • Taconic Biosciences Mouse Models for LAMC3

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets 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 & Interactions 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

No data available for SIGNOR curated interactions for LAMC3 Gene

Drugs & Compounds for LAMC3 Gene

No Compound Related Data Available

Transcripts for LAMC3 Gene

Unigene Clusters for LAMC3 Gene

Laminin, gamma 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 (x5.0), Cervix - Ectocervix (x4.4), and Lung (x4.3).

Protein differential expression in normal tissues from HIPED for LAMC3 Gene

This gene is overexpressed in Placenta (21.8), Fetal testis (13.6), Testis (13.2), and Ovary (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for LAMC3 Gene



Protein tissue co-expression partners for LAMC3 Gene

NURSA nuclear receptor signaling pathways regulating expression of LAMC3 Gene:

LAMC3

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 expression patterns with LAMC3: view

Primer Products

Orthologs for LAMC3 Gene

This gene was present in the common ancestor of animals.

Orthologs for LAMC3 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia LAMC3 34
  • 84.92 (n)
  • 82.13 (a)
LAMC3 35
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lamc3 34
  • 78.88 (n)
  • 75.71 (a)
Lamc3 16
Lamc3 35
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LOC464805 34
  • 99.08 (n)
  • 98.71 (a)
LAMC3 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lamc3 34
  • 79.03 (n)
  • 76.42 (a)
oppossum
(Monodelphis domestica)
Mammalia LAMC3 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LAMC3 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves LAMC3 34
  • 65.98 (n)
  • 58.85 (a)
LAMC3 35
  • 57 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii lamc3 34
  • 54.16 (n)
  • 45.11 (a)
lamc3 35
  • 42 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta LanB2 35
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C54D1.5 36
  • 35 (a)
lam-2 35
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
OneToMany
Species where no ortholog for LAMC3 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)
  • 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

(5) 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
rs869457 - 131,049,064(-) TGGGG(A/G)GTGCT reference, missense
rs10901333 - 131,052,491(+) TTCAG(A/G)GAAGT reference, missense
rs3739510 - 131,061,184(-) CTCCC(C/G/T)GCTCT reference, missense
rs2275140 - 131,072,662(+) TGATG(A/G)GCCTC reference, missense
rs11244275 - 131,079,161(+) AGTCC(C/T)GGGCT reference, missense

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

Variant ID Type Subtype PubMed ID
esv2759717 CNV loss 17122850
esv33161 CNV gain 17666407
esv33889 CNV gain 17666407
esv3621866 CNV gain 21293372
nsv415537 CNV deletion 16902084
nsv479525 CNV novel sequence insertion 20440878
nsv831737 CNV loss 17160897
nsv831738 CNV loss 17160897

Variation tolerance for LAMC3 Gene

Residual Variation Intolerance Score: 99% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.27; 98.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LAMC3 Gene

Human Gene Mutation Database (HGMD)
LAMC3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LAMC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAMC3 Gene

Disorders for LAMC3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for LAMC3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cortical malformations, occipital
  • occipital pachygyria and polymicrogyria
tooth resorption
pachygyria
  • macrogyria
- elite association - COSMIC cancer census association via MalaCards
Search LAMC3 in MalaCards View complete list of genes associated with diseases

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LAMC3
genes like me logo Genes that share disorders with LAMC3: view

No data available for Genatlas for LAMC3 Gene

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 65
  2. Recessive LAMC3 mutations cause malformations of occipital cortical development. (PMID: 21572413) Barak T. … Gunel M. (Nat. Genet. 2011) 3 4 65
  3. 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 46 65
  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 22 65
  5. Cannabinoid inhibits HIV-1 Tat-stimulated adhesion of human monocyte-like cells to extracellular matrix proteins. (PMID: 24742657) Raborn E.S. … Cabral G.A. (Life Sci. 2014) 3 65

Products for LAMC3 Gene

Sources for LAMC3 Gene

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