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DMBT1 Gene

protein-coding   GIFtS: 65
GCID: GC10P124310

Deleted In Malignant Brain Tumors 1

  See DMBT1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Deleted In Malignant Brain Tumors 11 2     Deleted In Malignant Brain Tumors 1 Protein2
Glycoprotein 3402 3     gp-3402
Salivary Agglutinin2 3     hensin2
Surfactant Pulmonary-Associated D-Binding Protein2 3     muclin2
GP3402 3     Gp-3403
SAG2 3     Hensin3

External Ids:    HGNC: 29261   Entrez Gene: 17552   Ensembl: ENSG000001879087   OMIM: 6019695   UniProtKB: Q9UGM33   

Export aliases for DMBT1 gene to outside databases

Previous GC identifers: GC10P123339 GC10P123564 GC10P9C0058 GC10P117951


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DMBT1 Gene:
Loss of sequences from human chromosome 10q has been associated with the progression of human cancers. The gene
DMBT1 was originally isolated based on its deletion in a medulloblastoma cell line. DMBT1 is expressed with
transcripts of 6.0, 7.5, and 8.0 kb in fetal lung and with one transcript of 8.0 kb in adult lung, although the
7.5 kb transcript has not been characterized. The DMBT1 protein is a glycoprotein containing multiple scavenger
receptor cysteine-rich (SRCR) domains separated by SRCR-interspersed domains (SID). Transcript variant 2 (8.0 kb)
has been shown to bind surfactant protein D independently of carbohydrate recognition. This indicates that DMBT1
may not be a classical tumor supressor gene, but rather play a role in the interaction of tumor cells and the
immune system. (provided by RefSeq, Jul 2008)

GeneCards Summary for DMBT1 Gene:
DMBT1 (deleted in malignant brain tumors 1) is a protein-coding gene. Diseases associated with DMBT1 include diffuse astrocytoma, and appendicitis. GO annotations related to this gene include scavenger receptor activity and signaling pattern recognition receptor activity. An important paralog of this gene is LOXL2.

UniProtKB/Swiss-Prot: DMBT1_HUMAN, Q9UGM3
Function: May be considered as a candidate tumor suppressor gene for brain, lung, esophageal, gastric, and
colorectal cancers. May play roles in mucosal defense system, cellular immune defense and epithelial
differentiation. May play a role as an opsonin receptor for SFTPD and SPAR in macrophage tissues throughout the
body, including epithelial cells lining the gastrointestinal tract. May play a role in liver regeneration. May be
an important factor in fate decision and differentiation of transit-amplifying ductular (oval) cells within the
hepatic lineage. Required for terminal differentiation of columnar epithelial cells during early embryogenesis.
May function as a binding protein in saliva for the regulation of taste sensation. Binds to HIV-1 envelope
protein and has been shown to both inhibit and facilitate viral transmission. Displays a broad calcium-dependent
binding spectrum against both Gram-positive and Gram-negative bacteria, suggesting a role in defense against
bacterial pathogens. Binds to a range of poly-sulfated and poly-phosphorylated ligands which may explain its
broad bacterial-binding specificity. Inhibits cytoinvasion of S.enterica. Associates with the actin cytoskeleton
and is involved in its remodeling during regulated exocytosis. Interacts with pancreatic zymogens in a
pH-dependent manner and may act as a Golgi cargo receptor in the regulated secretory pathway of the pancreatic
acinar cell

Gene Wiki entry for DMBT1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DMBT1 gene promoter:
         p53   CUTL1   NF-kappaB1   NF-kappaB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): DMBT1 promoter sequence
   Search Chromatin IP Primers for DMBT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DMBT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q26.13   Ensembl cytogenetic band:  10q26.13   HGNC cytogenetic band: 10q25.3-q26.1

DMBT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DMBT1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P124310:  view genomic region     (about GC identifiers)

Start:
124,320,181 bp from pter      End:
124,403,252 bp from pter
Size:
83,072 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: DMBT1_HUMAN, Q9UGM3 (See protein sequence)
Recommended Name: Deleted in malignant brain tumors 1 protein precursor  
Size: 2413 amino acids; 260735 Da
Subunit: Interacts with LGALS3 (By similarity). Binds SFTPD and SPAR in a calcium-dependent manner. Binds to HIV-1
glycoprotein 120
Developmental stage: Expressed in fetal lung, intestine and skin. Secreted to the extracellular matrix (ECM) in
certain fetal epithelia
Secondary accessions: A6NDG4 A6NDJ5 A8E4R5 B1ARE7 B1ARE8 B1ARE9 B1ARF0 Q59EX0 Q5JR26 Q6MZN4
Q96DU4 Q9UGM2 Q9UJ57 Q9UKJ4 Q9Y211 Q9Y4V9
Alternative splicing: 8 isoforms:  Q9UGM3-1   Q9UGM3-2   Q9UGM3-3   Q9UGM3-4   Q9UGM3-6   Q9UGM3-7   Q9UGM3-8   Q9UGM3-5   
(No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DMBT1: NX_Q9UGM3

Explore proteomics data for DMBT1 at MOPED

Post-translational modifications: 

  • Highly N- and O-glycosylated. The O-glycans are heavily sulfated (By similarity)1
  • Glycosylation2 at Ser220, Thr225, Asn566, Asn737, Ser1499, Thr1500, Ser1503, Asn1712, Asn1745, Asn1818,
                                 Asn1832, Asn1842, Asn1889, Asn1998, Asn2120, Asn2188, Asn2233, Asn2240, Asn2256
  • Modification sites at PhosphoSitePlus

  • See DMBT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_004397.2  NP_015568.2  NP_060049.2  

    ENSEMBL proteins: 
     ENSP00000342210   ENSP00000343175   ENSP00000327747   ENSP00000357905   ENSP00000357951  
     ENSP00000357952   ENSP00000352593  

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    antibodies-online proteins for DMBT1 (2 products) 

     
    antibodies-online peptides for DMBT1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR017977 ZP_dom_CS
     IPR001190 SRCR
     IPR000859 CUB_dom
     IPR001507 ZP_dom
     IPR017448 Srcr_rcpt-rel

    Graphical View of Domain Structure for InterPro Entry Q9UGM3

    ProtoNet protein and cluster: Q9UGM3

    2 Blocks protein domains:
    IPB000859 CUB domain
    IPB001190 Speract/scavenger receptor


    UniProtKB/Swiss-Prot: DMBT1_HUMAN, Q9UGM3
    Domain: The SRCR domains mediate binding to bacteria. The minimal bacterial-binding site is an 11-residue repeat
    of GRVEVLYRGSW where VEVL and W are critical residues
    Similarity: Belongs to the DMBT1 family
    Similarity: Contains 2 CUB domains
    Similarity: Contains 14 SRCR domains
    Similarity: Contains 1 ZP domain


    Find genes that share domains with DMBT1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DMBT1_HUMAN, Q9UGM3
    Function: May be considered as a candidate tumor suppressor gene for brain, lung, esophageal, gastric, and
    colorectal cancers. May play roles in mucosal defense system, cellular immune defense and epithelial
    differentiation. May play a role as an opsonin receptor for SFTPD and SPAR in macrophage tissues throughout the
    body, including epithelial cells lining the gastrointestinal tract. May play a role in liver regeneration. May be
    an important factor in fate decision and differentiation of transit-amplifying ductular (oval) cells within the
    hepatic lineage. Required for terminal differentiation of columnar epithelial cells during early embryogenesis.
    May function as a binding protein in saliva for the regulation of taste sensation. Binds to HIV-1 envelope
    protein and has been shown to both inhibit and facilitate viral transmission. Displays a broad calcium-dependent
    binding spectrum against both Gram-positive and Gram-negative bacteria, suggesting a role in defense against
    bacterial pathogens. Binds to a range of poly-sulfated and poly-phosphorylated ligands which may explain its
    broad bacterial-binding specificity. Inhibits cytoinvasion of S.enterica. Associates with the actin cytoskeleton
    and is involved in its remodeling during regulated exocytosis. Interacts with pancreatic zymogens in a
    pH-dependent manner and may act as a Golgi cargo receptor in the regulated secretory pathway of the pancreatic
    acinar cell
    Induction: Up-regulated in intestinal epithelial cells in response to proinflammatory stimuli including TNF and
    bacterial lipopolysaccharides (LPS)

         Genatlas biochemistry entry for DMBT1:
    tumor suppressor gene,likely truncated form of a receptor for SFTPD ,expressed at high levels in lung,trachea and
    small intestine and stomach,deleted in malignant brain tumors and in developing glioblastoma
    multiform,inactivated in lung cancer,included in TSG10B,homolog of H3 progesterone-induced endometrial gene

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005044scavenger receptor activity TAS10485905
    GO:0005515protein binding IPI14676191
    GO:0008329signaling pattern recognition receptor activity TAS12681477
    GO:0035375zymogen binding ISS--
    GO:0048306calcium-dependent protein binding TAS10485905
         
    Find genes that share ontologies with DMBT1           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Dmbt1):
     cellular  digestive/alimentary  embryogenesis  hearing/vestibular/ear  homeostasis/metabolism 
     immune system  mortality/aging  renal/urinary system  tumorigenesis 

    Find genes that share phenotypes with DMBT1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for DMBT1: Dmbt1tm1Janm Dmbt1tm1Kumc

       genOway: Develop your customized and physiologically relevant rodent model for DMBT1

    miRNA
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    miRTarBase miRNAs that target DMBT1:
    hsa-mir-335-5p (MIRT017146), hsa-mir-148b-3p (MIRT019260)

    Block miRNA regulation of human, mouse, rat DMBT1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate DMBT1:
    hsa-miR-421
    SwitchGear 3'UTR luciferase reporter plasmidDMBT1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DMBT1

    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMBT1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DMBT1_HUMAN, Q9UGM3: Secreted (By similarity). Note=Some isoforms may be membrane-bound. Localized to the lumenal
    aspect of crypt cells in the small intestine. In the colon, seen in the lumenal aspect of surface epithelial
    cells. Formed in the ducts of von Ebner gland, and released into the fluid bathing the taste buds contained in
    the taste papillae (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS14732920
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005615extracellular space IDA--
    GO:0005622intracellular ----
    GO:0005737cytoplasm IDA10485905

    Find genes that share ontologies with DMBT1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DMBT1 About    
    See pathways by source

    SuperPathContained pathways About
    1Salivary secretion
    Salivary secretion0.34


    Find genes that share SuperPaths with DMBT1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for DMBT1
        Visual Cycle in Retinal Rods



    1 Kegg Pathway  (Kegg details for DMBT1):
        Salivary secretion

        Pathway & Disease-focused RT2 Profiler PCR Array including DMBT1: 
              Antibacterial Response in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DMBT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for DMBT1 (Q9UGM33 ENSP000003579054) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SFTPA1Q8IWL23, ENSP000003613824I2D: score=2 STRING: ENSP00000361382
    CAV1Q031353, ENSP000003391914I2D: score=1 STRING: ENSP00000339191
    SFTPDP352473, ENSP000003613664I2D: score=2 STRING: ENSP00000361366
    PARD6BQ9BYG53, ENSP000003606724I2D: score=2 STRING: ENSP00000360672
    CDK5RAP3Q96JB53, ENSP000003446834I2D: score=1 STRING: ENSP00000344683
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001824blastocyst development ----
    GO:0001833inner cell mass cell proliferation IEA--
    GO:0002221pattern recognition receptor signaling pathway TAS12681477
    GO:0006898receptor-mediated endocytosis TAS10485905
    GO:0015031protein transport IEA--

    Find genes that share ontologies with DMBT1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DMBT1

    1 HMDB Compound for DMBT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    5 Novoseek inferred chemical compound relationships for DMBT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sialic acid 27.7 1 17243023 (1)
    maltose 25.6 1 9153228 (1)
    cysteine 10.5 2 15941386 (1), 12452835 (1)
    calcium 0 3 9153228 (2), 10485905 (1)
    serine 0 1 12673672 (1)



    Find genes that share compounds with DMBT1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DMBT1 gene (3 alternative transcripts): 
    NM_004406.2  NM_007329.2  NM_017579.2  

    Unigene Cluster for DMBT1:

    Deleted in malignant brain tumors 1
    Hs.279611  [show with all ESTs]
    Unigene Representative Sequence: NM_007329
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000338354 ENST00000344338(uc001lgm.1) ENST00000330163(uc010qtx.1 uc009yab.1)
    ENST00000368909(uc021qaf.1) ENST00000368955(uc021qag.1) ENST00000368956(uc021qah.1 uc009yac.1)
    ENST00000359586
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    SwitchGear 3'UTR luciferase reporter plasmidDMBT1 3' UTR sequence
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    Additional mRNA sequence: 

    AB209691.1 AF159456.1 AJ000342.1 AJ243212.1 AJ243224.1 AJ297935.1 AK304128.1 AK304149.1 
    BC153299.1 BX640988.1 FJ234410.1 

    8 DOTS entries:

    DT.451696  DT.100752235  DT.91742573  DT.100034581  DT.121297984  DT.95298746  DT.121297975  DT.95212871 

    Selected AceView cDNA sequences (see all 101):

    BM820414 BM820171 CB242527 CK431078 AI796678 BX280588 BX281860 CA946438 
    BM834682 AA565985 BX640988 AA295769 AI720725 BM825572 BV204716 BM855801 
    BM767219 BM822704 AI917655 BM767196 BM822500 BX483430 CD624070 BM822705 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DMBT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTCTCATCT
    DMBT1 Expression
    About this image


    DMBT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Duct Cells Pancreatic Ducts
             Islets of Langerhans
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Granulosa Cells Primary Follicle
     
     Epithelial Cells
             Duct Cells Pancreatic Ducts
    DMBT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DMBT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.279611

    UniProtKB/Swiss-Prot: DMBT1_HUMAN, Q9UGM3
    Tissue specificity: Highly expressed in alveolar and macrophage tissues. In some macrophages, expression is seen
    on the membrane, and in other macrophages, strongly expressed in the phagosome/phagolysosome compartments.
    Expressed in lung, trachea, salivary gland, small intestine and stomach. In pancreas, expressed in certain cells
    of the islets of Langerhans. In digestive tract, confined to tissues with large epithelial surfaces. In
    intestinal tissue, moderately expressed in epithelial cells of the midcrypts and the crypt base. Expression is
    significantly elevated in intestinal tissue from patients with inflammatory bowel disease (IBD), particularly in
    surface epithelial and Paneth cells, but not in IBD patients with mutant NOD2. Present in crypt bases of the
    duodenum, in crypt tops of the colon, and in collecting ducts of the cortical kidney. Expressed in stratified
    squamous epithelium of vagina and in outer luminar surface and basilar region of columnar epithelial cells in
    cervix (at protein level). Isoform 1 is secreted to the lumen of the respiratory tract

        Pathway & Disease-focused RT2 Profiler PCR Array including DMBT1: 
              Antibacterial Response in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for DMBT1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dmbt11 , 5 deleted in malignant brain tumors 11, 5 74.02(n)1
    72.18(a)1
      7 (73.20 cM)5
    129451  NM_007769.21  NP_031795.21 
     1310320765 
    chicken
    (Gallus gallus)
    Aves CUZD11 CUB and zona pellucida-like domains 1 56.57(n)
    51.56(a)
      423943  XM_003641502.2  XP_003641550.2 
    lizard
    (Anolis carolinensis)
    Reptilia DMBT16
    deleted in malignant brain tumors 1
    44(a)
    1 ↔ 1
    3(63710713-63804495)
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-14d8.201 si:dkey-14d8.20 53.98(n)
    49.82(a)
      558392  XM_003198227.2  XP_003198275.2 


    ENSEMBL Gene Tree for DMBT1 (if available)
    TreeFam Gene Tree for DMBT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DMBT1 gene
    LOXL22  CD62  CD163L12  LOXL42  CD1632  LOXL32  SSC5D2  PRSS122  
    CD5L2  LOX2  SRCRB4D2  LOXL12  
    14 SIMAP similar genes for DMBT1 using alignment to 4 protein entries:     DMBT1_HUMAN (see all proteins):
    MASP1    LGALS3BP    CUBN    C1S    CUZD1    NRP2
    SSC5D    CD5L    LOXL2    CD6    FLJ00268    SRCRB4D
    LOXL3    CD163L1

    Find genes that share paralogs with DMBT1           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for DMBT1 (see all 10)
    PGOHUM00000238943 PGOHUM00000238949 PGOHUM00000261102 PGOHUM00000238953 PGOHUM00000238954


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    DMBT1_HUMAN, Q9UGM3: The number of SRCR and SRCR-interspersed domains is polymorphic in a variety of tumors and may
    represent the major site of alterations in cancer


    Selected SNPs for DMBT1 (see all 2272)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0247964
    A glioma sample4--see VAR_0247962 Q H mis40--------
    VAR_0579824
    A glioma cell line4--see VAR_0579822 N S mis40--------
    VAR_0579814
    A glioma cell line4--see VAR_0579812 G E mis40--------
    VAR_0247974
    A glioma sample4--see VAR_0247972 G V mis40--------
    rs1901841861,2
    --124318192(+) GTTCCA/CCTGAC 3 -- us2k10--------
    rs611794531,2
    F--124318231(+) CCTGGG/ACTGGC 3 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1124186471,2
    C--124318303(+) AAACCC/-TTATT 3 -- us2k12Minor allele frequency- -:0.25NA CSA 4
    rs37584311,2
    C--124318311(+) TTATTG/TTCTCA 3 -- us2k19Minor allele frequency- T:0.20EA NA WA CSA 1293
    rs29817381,2
    C,F,O,A--124318334(+) CTAACT/CACCAT 3 -- us2k115Minor allele frequency- C:0.30NA WA CSA EA 518
    rs37584331,2
    C,F--124318479(+) CCCTGC/TCCCCA 3 -- us2k12Minor allele frequency- T:0.13WA EA 238

    HapMap Linkage Disequilibrium report for DMBT1 (124320181 - 124403252 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DMBT1 (see all 36):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1000689CNV Deletion20482838
    esv2742162CNV Deletion23290073
    esv2742128CNV Deletion23290073
    esv2676690CNV Deletion23128226
    esv2742151CNV Deletion23290073
    esv2742140CNV Deletion23290073
    esv2658567CNV Deletion23128226
    esv2742117CNV Deletion23290073
    esv2422149CNV Deletion20811451
    nsv820718CNV Deletion20802225

    Human Gene Mutation Database (HGMD): DMBT1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DMBT1
    DNA2.0 Custom Variant and Variant Library Synthesis for DMBT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601969    OMIM disorders: --

    UniProtKB/Swiss-Prot: DMBT1_HUMAN, Q9UGM3
  • Glioma (GLM) [MIM:137800]: Gliomas are benign or malignant central nervous system neoplasms derived from
    glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes,
    oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. Note=The gene
    represented in this entry is involved in disease pathogenesis. Homozygous deletions may be the predominant
    mechanism of DMBT1 inactivation playing a role in carcinogenesis. DMBT1 is deleted in medulloblastoma and
    glioblastoma cell lines; point mutations have also been reported in patients with glioma. A loss or reduction of
    DMBT1 expression has been seen in esophageal, gastric, lung and colorectal carcinomas as well

  • 5 diseases for DMBT1:    
    About MalaCards
    diffuse astrocytoma    appendicitis    anaplastic astrocytoma    medulloblastoma
    oligodendroglioma

    2 diseases from the University of Copenhagen DISEASES database for DMBT1:
    Dental caries     Malignant glioma

    Find genes that share disorders with DMBT1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for DMBT1 gene (see all 28)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    brain tumors 74.4 32 12672033 (2), 11912156 (2), 16624504 (2), 17908325 (2) (see all 23)
    glioblastoma 62.4 6 12672033 (2), 10433932 (1), 11438483 (1), 12507139 (1) (see all 5)
    glioblastoma multiforme 58.6 2 10597221 (1), 12672033 (1)
    medulloblastoma 56.2 12 15547761 (4), 12672033 (3), 9288095 (2), 10597221 (1)
    anaplastic astrocytoma 53.2 2 10433932 (1), 12168116 (1)
    malignant glioma 52.7 11 11912156 (3), 10444583 (2), 10511381 (1), 11438483 (1) (see all 5)
    astrocytoma 47.9 8 12168116 (4), 12185598 (2), 14603438 (1)
    allelic imbalance 45.8 1 10962442 (1)
    cholangitis primary sclerosing 40.6 5 12870778 (2), 12368192 (1), 15101998 (1)
    glioma 37.6 8 9796977 (3), 9739018 (2), 11912156 (2)

    Genetic Association Database (GAD): DMBT1
    Human Genome Epidemiology (HuGE) Navigator: DMBT1 (5 documents)

    Export disorders for DMBT1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DMBT1 gene, integrated from 10 sources (see all 136):
    (articles sorted by number of sources associating them with DMBT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. DMBT1 confers mucosal protection in vivo and a deletion variant is associated with Crohn's disease. (PubMed id 17983803)1, 2, 4, 9 Renner M.... Mollenhauer J. (Gastroenterology 2007)
    2. Regulation of DMBT1 via NOD2 and TLR4 in intestinal epithelial cells modulates bacterial recognition and invasion. (PubMed id 17548659)1, 2, 3, 9 Rosenstiel P....Schreiber S. (J. Immunol. 2007)
    3. DMBT1, a new member of the SRCR superfamily on chromosome 10q25.3- q26.1 is deleted in malignant brain tumours. (PubMed id 9288095)1, 2, 3, 9 Mollenhauer J.... Poustka A. (Nat. Genet. 1997)
    4. Deleted in malignant brain tumors 1 is a versatile mucin-like molecule likely to play a differential role in digestive tract cancer. (PubMed id 11751412)1, 2, 9 Mollenhauer J.... Poustka A. (Cancer Res. 2001)
    5. Isolation and characterization of a new member of the scavenger receptor superfamily, glycoprotein-340 (gp-340), as a lung surfactant protein-D binding molecule. (PubMed id 9153228)1, 2, 9 Holmskov U.... Reid K.B. (J. Biol. Chem. 1997)
    6. Cloning of gp-340, a putative opsonin receptor for lung surfactant protein D. (PubMed id 10485905)1, 2, 9 Holmskov U.... Skjodt K. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    7. The genomic structure of the DMBT1 gene: evidence for a region with susceptibility to genomic instability. (PubMed id 10597221)1, 2, 9 Mollenhauer J.... Poustka A. (Oncogene 1999)
    8. Glycoprotein-340 binds surfactant protein-A (SP-A) and stimulates alveolar macrophage migration in an SP-A-independent manner. (PubMed id 10101009)1, 2, 9 Tino M.J. and Wright J.R. (Am. J. Respir. Cell Mol. Biol. 1999)
    9. Expression of the DMBT1 gene is frequently suppressed in human lung cancer. (PubMed id 10551316)1, 2, 9 Takeshita H.... Horii A. (Jpn. J. Cancer Res. 1999)
    10. Lack of DMBT1 expression in oesophageal, gastric and colon cancers. (PubMed id 9888459)1, 2, 9 Mori M.... Sugimachi K. (Br. J. Cancer 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1755 HGNC: 2926 AceView: DMBT1 Ensembl:ENSG00000187908 euGenes: HUgn1755
    ECgene: DMBT1 Kegg: 1755 H-InvDB: DMBT1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DMBT1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DMBT1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DMBT1 gene:
    Search GeneIP for patents involving DMBT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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