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    LAMC2 laminin subunit gamma 2 [ Homo sapiens (human) ]

    Gene ID: 3918, updated on 19-Dec-2020

    Summary

    Official Symbol
    LAMC2provided by HGNC
    Official Full Name
    laminin subunit gamma 2provided by HGNC
    Primary source
    HGNC:HGNC:6493
    See related
    Ensembl:ENSG00000058085 MIM:150292
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    B2T; CSF; EBR2; BM600; EBR2A; LAMB2T; LAMNB2
    Summary
    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), have 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 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]
    Expression
    Broad expression in lung (RPKM 14.0), thyroid (RPKM 10.4) and 16 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See LAMC2 in Genome Data Viewer
    Location:
    1q25.3
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    109.20201120 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (183186264..183245127)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (183147952..183214262)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 41, pseudogene Neighboring gene laminin subunit gamma 1 Neighboring gene LAMC1 antisense RNA 1 Neighboring gene nicotinamide nucleotide adenylyltransferase 2 Neighboring gene RPS3A pseudogene 8 Neighboring gene uncharacterized LOC105371646 Neighboring gene SMG7 antisense RNA 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
    GeneReviews: Not available
    Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
    GeneReviews: Not available
    Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
    GeneReviews: Not available
    Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
    GeneReviews: Not available
    Junctional epidermolysis bullosa gravis of Herlitz Compare labs
    Junctional epidermolysis bullosa, non-Herlitz type Compare labs

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Treatment with cannabinoids inhibits HIV-1 Tat-enhanced attachment of U937 cells to collagen IV, laminin, or ECM1 proteins, which is linked to the cannabinoid receptor type 2 and the modulation of beta1-integrin and actin distribution PubMed
    tat HIV-1 Tat enhances adhesion of human U937 monocyte-like cells to proteins of the extracellular matrix, such as collagen IV, laminin, and ECM1 PubMed
    tat HIV-1 Tat upregulates the expression of extracellular matrix proteins, including the major basement membrane protein laminin PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC138491, MGC141938

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    heparin binding IEA
    Inferred from Electronic Annotation
    more info
     
    signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    animal organ morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    dendrite development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    epidermis development TAS
    Traceable Author Statement
    more info
    PubMed 
    extracellular matrix organization TAS
    Traceable Author Statement
    more info
     
    hemidesmosome assembly TAS
    Traceable Author Statement
    more info
     
    motor neuron axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    tissue development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    basement membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell cortex IEA
    Inferred from Electronic Annotation
    more info
     
    collagen-containing extracellular matrix HDA PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    laminin-2 complex IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    laminin subunit gamma-2
    Names
    BM600-100kDa
    CSF 140 kDa subunit
    cell-scattering factor 140 kDa subunit
    epiligrin subunit gamma
    kalinin subunit gamma
    ladsin 140 kDa subunit
    laminin B2t chain
    laminin, gamma 2
    large adhesive scatter factor 140 kDa subunit
    nicein subunit gamma

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Data Table view

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007079.2 RefSeqGene

      Range
      5001..63864
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005562.3NP_005553.2  laminin subunit gamma-2 isoform a precursor

      See identical proteins and their annotated locations for NP_005553.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the full length transcript variant. It encodes isoform (a) which is expressed in the epithelia of embryonic tissues.
      Source sequence(s)
      AL354953, X73902
      Consensus CDS
      CCDS1352.1
      UniProtKB/Swiss-Prot
      Q13753
      Related
      ENSP00000264144.4, ENST00000264144.5
      Conserved Domains (5) summary
      smart00281
      Location:245370
      LamB; Laminin B domain
      cd00055
      Location:83127
      EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
      pfam00053
      Location:139184
      Laminin_EGF; Laminin EGF domain
      pfam04012
      Location:8511058
      PspA_IM30; PspA/IM30 family
      cl02488
      Location:8911111
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    2. NM_018891.3NP_061486.2  laminin subunit gamma-2 isoform b precursor

      See identical proteins and their annotated locations for NP_061486.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents a shorter transcript variant, compared to variant 1, and encodes a shorter isoform (b). Transcript variant 2, unlike variant 1, has limited expression only in the embryonic cerebral cortex, lung and distal tubules of the kidney.
      Source sequence(s)
      AL354953, BC113378
      Consensus CDS
      CCDS44285.1
      UniProtKB/Swiss-Prot
      Q13753
      Related
      ENSP00000432063.1, ENST00000493293.5
      Conserved Domains (5) summary
      smart00281
      Location:245370
      LamB; Laminin B domain
      cd00055
      Location:83127
      EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
      pfam00053
      Location:139184
      Laminin_EGF; Laminin EGF domain
      pfam04012
      Location:8511058
      PspA_IM30; PspA/IM30 family
      cl02488
      Location:8911109
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      183186264..183245127
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001273.2XP_016856762.1  laminin subunit gamma-2 isoform X1

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