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    LUM lumican [ Homo sapiens (human) ]

    Gene ID: 4060, updated on 10-Dec-2024

    Summary

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    Official Symbol
    LUMprovided by HGNC
    Official Full Name
    lumicanprovided by HGNC
    Primary source
    HGNC:HGNC:6724
    See related
    Ensembl:ENSG00000139329 MIM:600616; AllianceGenome:HGNC:6724
    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
    LDC; SLRR2D
    Summary
    This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family that includes decorin, biglycan, fibromodulin, keratocan, epiphycan, and osteoglycin. In these bifunctional molecules, the protein moiety binds collagen fibrils and the highly charged hydrophilic glycosaminoglycans regulate interfibrillar spacings. Lumican is the major keratan sulfate proteoglycan of the cornea but is also distributed in interstitial collagenous matrices throughout the body. Lumican may regulate collagen fibril organization and circumferential growth, corneal transparency, and epithelial cell migration and tissue repair. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in gall bladder (RPKM 981.2), urinary bladder (RPKM 643.2) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LUM in Genome Data Viewer
    Location:
    12q21.33
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (91102629..91111494, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (91080108..91088974, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (91496406..91505271, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:91377884-91378418 Neighboring gene epiphycan Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:91434914-91435454 Neighboring gene keratocan Neighboring gene VISTA enhancer hs2540 Neighboring gene decorin Neighboring gene uncharacterized LOC124903075

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Association analysis of polymorphisms in lumican gene and systemic lupus erythematosus in a Taiwan Chinese Han population. Chang PC, et al. J Rheumatol, 2011 Nov. PMID 21885486
    2. Downregulation of lumican enhanced mitotic defects and aneuploidy in lung cancer cells. Yang CT, et al. Cell Cycle, 2020 Jan. PMID 31760859, Free PMC Article
    3. Lumican is upregulated in osteoarthritis and contributes to TLR4-induced pro-inflammatory activation of cartilage degradation and macrophage polarization. Barreto G, et al. Osteoarthritis Cartilage, 2020 Jan. PMID 31715293
    4. [Interference of Lumican Regulates the Invasion and Migration of Liver Cancer Cells]. Mu QM, et al. Sichuan Da Xue Xue Bao Yi Xue Ban, 2018 May. PMID 30014634
    5. Expression and roles of lumican in lung adenocarcinoma and squamous cell carcinoma. Matsuda Y, et al. Int J Oncol, 2008 Dec. PMID 19020750

    See all (135) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Circulating lumican as a potential biomarker for osteosarcopenia in older adults.
      Title: Circulating lumican as a potential biomarker for osteosarcopenia in older adults.
    2. LUM as a novel prognostic marker and its correlation with immune infiltration in gastric cancer: a study based on immunohistochemical analysis and bioinformatics.
      Title: LUM as a novel prognostic marker and its correlation with immune infiltration in gastric cancer: a study based on immunohistochemical analysis and bioinformatics.
    3. The versatile roles of lumican in eye diseases: A review.
      Title: The versatile roles of lumican in eye diseases: A review.
    4. Lumican is elevated in the lung in human and experimental acute respiratory distress syndrome and promotes early fibrotic responses to lung injury.
      Title: Lumican is elevated in the lung in human and experimental acute respiratory distress syndrome and promotes early fibrotic responses to lung injury.
    5. The Involvement of Lumican in Human Ovulatory Processes.
      Title: The Involvement of Lumican in Human Ovulatory Processes.
    6. The Downregulation of Placental Lumican Promotes the Progression of Preeclampsia.
      Title: The Downregulation of Placental Lumican Promotes the Progression of Preeclampsia.
    7. Lumican silencing alleviates tumor necrosis factor-alpha-induced nucleus pulposus cell inflammation and senescence by inhibiting apoptosis signal regulating kinase 1/p38 signaling pathway via inactivating Fas ligand expression.
      Title: Lumican silencing alleviates tumor necrosis factor-α-induced nucleus pulposus cell inflammation and senescence by inhibiting apoptosis signal regulating kinase 1/p38 signaling pathway via inactivating Fas ligand expression.
    8. Matrix lumican endocytosed by immune cells controls receptor ligand trafficking to promote TLR4 and restrict TLR9 in sepsis.
      Title: Matrix lumican endocytosed by immune cells controls receptor ligand trafficking to promote TLR4 and restrict TLR9 in sepsis.
    9. Lumican promotes joint fibrosis through TGF-beta signaling.
      Title: Lumican promotes joint fibrosis through TGF-β signaling.
    10. Expression and role of lumican in acute aortic dissection: A human and mouse study.
      Title: Expression and role of lumican in acute aortic dissection: A human and mouse study.
    Submit: New GeneRIF Correction See all GeneRIFs (90)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.
    EBI GWAS Catalog
    Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables collagen binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables collagen binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables extracellular matrix structural constituent NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables extracellular matrix structural constituent conferring compression resistance ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables extracellular matrix structural constituent conferring compression resistance RCA
    inferred from Reviewed Computational Analysis
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in collagen fibril organization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transforming growth factor beta1 production IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in visual perception TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi lumen TAS
    Traceable Author Statement
    more info
    		  
    colocalizes_with collagen-containing extracellular matrix HDA PubMed 
    located_in collagen-containing extracellular matrix HDA PubMed 
    colocalizes_with collagen-containing extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in extracellular matrix TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular region HDA PubMed 
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular space HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of fibrillar collagen trimer IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosomal lumen TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    lumican
    Names
    KSPG lumican
    epididymis secretory sperm binding protein
    keratan sulfate proteoglycan lumican
    lumican proteoglycan

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_002345.4 → NP_002336.1  lumican precursor

      See identical proteins and their annotated locations for NP_002336.1

      Status: REVIEWED

      Source sequence(s)
      AA036658, AC078873, BC007038
      Consensus CDS
      CCDS9038.1
      UniProtKB/Swiss-Prot
      B2R6R5, P51884, Q96QM7
      UniProtKB/TrEMBL
      A0A384N669, Q53FV4
      Related
      ENSP00000266718.4, ENST00000266718.5
      Conserved Domains (3) summary
      smart00013
      Location:37 → 71
      LRRNT; Leucine rich repeat N-terminal domain
      sd00033
      Location:68 → 91
      LRR_RI; leucine-rich repeat [structural motif]
      NF033190
      Location:68 → 310
      inl_like_NEAT_1; NEAT domain-containing leucine-rich repeat protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      91102629..91111494 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      91080108..91088974 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P51884.2 GenPept UniProtKB/Swiss-Prot:P51884

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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