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Aliases for DMBT1 Gene

Aliases for DMBT1 Gene

  • Deleted In Malignant Brain Tumors 1 2 3 5
  • Salivary Agglutinin 2 3 4
  • Surfactant Pulmonary-Associated D-Binding Protein 3 4
  • Salivary Scavenger And Agglutinin 2 3
  • Glycoprotein 340 3 4
  • Gp-340 3 4
  • Hensin 3 4
  • GP340 3 4
  • SAG 3 4
  • Deleted In Malignant Brain Tumors 1 Protein 3
  • Vomeroglandin 3
  • Muclin 3
  • SALSA 3

External Ids for DMBT1 Gene

Previous GeneCards Identifiers for DMBT1 Gene

  • GC10P123339
  • GC10P123564
  • GC10P9C0058
  • GC10P124310
  • GC10P117951

Summaries for DMBT1 Gene

Entrez Gene Summary for DMBT1 Gene

  • Loss of sequences from human chromosome 10q has been associated with the progression of human cancers. This gene was originally isolated based on its deletion in a medulloblastoma cell line. This gene 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 encoded protein precursor 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 suppressor gene, but rather play a role in the interaction of tumor cells and the immune system. [provided by RefSeq, Mar 2016]

GeneCards Summary for DMBT1 Gene

DMBT1 (Deleted In Malignant Brain Tumors 1) is a Protein Coding gene. Diseases associated with DMBT1 include Medulloblastoma and Cholangitis, Primary Sclerosing. Among its related pathways are Metabolism of proteins and Salivary secretion. GO annotations related to this gene include calcium-dependent protein binding and signaling pattern recognition receptor activity. An important paralog of this gene is CD163.

UniProtKB/Swiss-Prot for DMBT1 Gene

  • 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DMBT1 Gene

Genomics for DMBT1 Gene

Regulatory Elements for DMBT1 Gene

Enhancers for DMBT1 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
GH10G122529 0.8 ENCODE 18.8 -30.3 -30332 1.5 JUN MAX BACH1 CHD4 FOSL1 ZNF316 GATA2 POLR2A ZNF239 ZNF143 DMBT1 ARMS2 HTRA1 LOC105378526
GH10G122565 1 Ensembl ENCODE 11.5 +5.1 5135 1.0 CTCF CEBPG ZNF2 RAD21 ZNF143 SMC3 GATAD2A ZNF654 CEBPB MXD4 DMBT1 ENSG00000283198
GH10G122531 0.8 ENCODE 13 -27.8 -27845 3.0 NFIB BACH1 CHD4 CEBPG ZNF644 FOSL1 GATA3 TCF7L2 SOX5 STAT1 DMBT1 ARMS2 HTRA1 LOC105378526
GH10G122581 0.8 dbSUPER 12.8 +22.4 22377 3.5 ATF1 KLF1 PKNOX1 TAL1 FOSL1 TCF12 POLR2A FOS TRIM24 CREM DMBT1 ENSG00000283198 ENSG00000283328
GH10G122582 0.8 dbSUPER 12.8 +22.5 22466 3.7 ATF1 KLF1 PKNOX1 TAL1 FOSL1 TCF12 POLR2A FOS TRIM24 CREM DMBT1 ENSG00000283198 ENSG00000283328
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DMBT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DMBT1 Gene

Chromosome:
10
Start:
122,560,665 bp from pter
End:
122,643,736 bp from pter
Size:
83,072 bases
Orientation:
Plus strand

Genomic View for DMBT1 Gene

Genes around DMBT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DMBT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DMBT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DMBT1 Gene

Proteins for DMBT1 Gene

  • Protein details for DMBT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UGM3-DMBT1_HUMAN
    Recommended name:
    Deleted in malignant brain tumors 1 protein
    Protein Accession:
    Q9UGM3
    Secondary Accessions:
    • A6NDG4
    • A6NDJ5
    • A8E4R5
    • B1ARE7
    • B1ARE8
    • B1ARE9
    • B1ARF0
    • B7Z8Y2
    • F8WEF7
    • Q59EX0
    • Q5JR26
    • Q6MZN4
    • Q96DU4
    • Q9UGM2
    • Q9UJ57
    • Q9UKJ4
    • Q9Y211
    • Q9Y4V9

    Protein attributes for DMBT1 Gene

    Size:
    2413 amino acids
    Molecular mass:
    260735 Da
    Quaternary structure:
    • Interacts with LGALS3 (By similarity). Binds SFTPD and SPAR in a calcium-dependent manner. Binds to HIV-1 glycoprotein 120.

    Alternative splice isoforms for DMBT1 Gene

neXtProt entry for DMBT1 Gene

Post-translational modifications for DMBT1 Gene

  • Highly N- and O-glycosylated. The O-glycans are heavily sulfated (By similarity).
  • Glycosylation at Ser220, isoforms=3, 5, 6, 7566, Asn737, isoforms=2, 3, 4, 5, 6, 7, 8, 91503, isoforms=2, 3, 4, 5, 6, 7, 81712, isoforms=2, 3, 4, 6, 7, 8, 91745, isoforms=2, 3, 4, 5, 6, 7, 8, 91818, isoforms=2, 3, 4, 5, 6, 7, 8, 91832, Asn1842, isoforms=2, 3, 4, 5, 6, 7, 8, 91889, Asn1998, Asn2120, isoforms=2, 3, 4, 5, 6, 7, 8, 92188, Asn2233, isoforms=2, 3, 4, 5, 6, 7, 8, 92240, and isoforms=2, 3, 4, 5, 6, 7, 8, 92256
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for DMBT1 Gene

Domains & Families for DMBT1 Gene

Protein Domains for DMBT1 Gene

Suggested Antigen Peptide Sequences for DMBT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UGM3

UniProtKB/Swiss-Prot:

DMBT1_HUMAN :
  • 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.
  • Belongs to the DMBT1 family.
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.
Family:
  • Belongs to the DMBT1 family.
genes like me logo Genes that share domains with DMBT1: view

Function for DMBT1 Gene

Molecular function for DMBT1 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
Up-regulated in intestinal epithelial cells in response to proinflammatory stimuli including TNF and bacterial lipopolysaccharides (LPS).

Gene Ontology (GO) - Molecular Function for DMBT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005044 scavenger receptor activity TAS 10485905
GO:0005515 protein binding IPI 10101009
GO:0008329 signaling pattern recognition receptor activity TAS 12681477
GO:0035375 zymogen binding ISS --
GO:0048306 calcium-dependent protein binding TAS 10485905
genes like me logo Genes that share ontologies with DMBT1: view
genes like me logo Genes that share phenotypes with DMBT1: view

Animal Models for DMBT1 Gene

MGI Knock Outs for DMBT1:

Animal Model Products

CRISPR Products

miRNA for DMBT1 Gene

miRTarBase miRNAs that target DMBT1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DMBT1 Gene

Localization for DMBT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DMBT1 Gene

Secreted. 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). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DMBT1 gene
Compartment Confidence
extracellular 5
plasma membrane 1
peroxisome 1
nucleus 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for DMBT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS 14732920
GO:0005615 extracellular space IDA 22664934
GO:0005737 cytoplasm IDA 10485905
GO:0016020 membrane IEA --
GO:0019898 extrinsic component of membrane ISS --
genes like me logo Genes that share ontologies with DMBT1: view

Pathways & Interactions for DMBT1 Gene

genes like me logo Genes that share pathways with DMBT1: view

Pathways by source for DMBT1 Gene

2 Reactome pathways for DMBT1 Gene
1 KEGG pathway for DMBT1 Gene

Gene Ontology (GO) - Biological Process for DMBT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002221 pattern recognition receptor signaling pathway IEA --
GO:0006810 transport IEA --
GO:0006898 receptor-mediated endocytosis IEA --
GO:0007275 multicellular organism development IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with DMBT1: view

No data available for SIGNOR curated interactions for DMBT1 Gene

Drugs & Compounds for DMBT1 Gene

(4) Drugs for DMBT1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(1) Additional Compounds for DMBT1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DMBT1: view

Transcripts for DMBT1 Gene

Unigene Clusters for DMBT1 Gene

Deleted in malignant brain tumors 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DMBT1 Gene

No ASD Table

Relevant External Links for DMBT1 Gene

GeneLoc Exon Structure for
DMBT1
ECgene alternative splicing isoforms for
DMBT1

Expression for DMBT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DMBT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DMBT1 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x26.3), Colon - Transverse (x13.6), Minor Salivary Gland (x6.2), and Lung (x4.2).

Protein differential expression in normal tissues from HIPED for DMBT1 Gene

This gene is overexpressed in Saliva (54.3) and Pancreatic juice (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DMBT1 Gene



NURSA nuclear receptor signaling pathways regulating expression of DMBT1 Gene:

DMBT1

SOURCE GeneReport for Unigene cluster for DMBT1 Gene:

Hs.279611

mRNA Expression by UniProt/SwissProt for DMBT1 Gene:

Q9UGM3-DMBT1_HUMAN
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.

Evidence on tissue expression from TISSUES for DMBT1 Gene

  • Intestine(4.7)
  • Lung(4.5)
  • Saliva(4.5)
  • Nervous system(4.3)
  • Stomach(2.7)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with DMBT1: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DMBT1 Gene

Orthologs for DMBT1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DMBT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DMBT1 34 35
  • 95.37 (n)
dog
(Canis familiaris)
Mammalia DMBT1 34 35
  • 79.67 (n)
mouse
(Mus musculus)
Mammalia Dmbt1 34 16 35
  • 74.02 (n)
rat
(Rattus norvegicus)
Mammalia Dmbt1 34
  • 70.34 (n)
oppossum
(Monodelphis domestica)
Mammalia DMBT1 35
  • 69 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DMBT1 35
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DMBT1 35
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves CUZD1 34
  • 56.57 (n)
DMBT1 35
  • 40 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DMBT1 35
  • 44 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:dkey-14d8.20 34
  • 53.98 (n)
BX324164.1 35
  • 46 (a)
ManyToMany
si:dkey-8e10.2 35
  • 21 (a)
ManyToMany
si:dkey-242e21.3 35
  • 15 (a)
ManyToMany
Species where no ortholog for DMBT1 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)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for DMBT1 Gene

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

Paralogs for DMBT1 Gene

Variants for DMBT1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for DMBT1 Gene

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.

Sequence variations from dbSNP and Humsavar for DMBT1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs104894156 A glioma sample 122,582,793(+) GGCCA(G/T)GGTTC intron-variant, reference, missense
rs200664624 A glioma cell line 122,576,600(+) CTCAG(A/G)ACCCA reference, missense
rs200713568 A glioma cell line 122,586,237(+) AGGAA(A/G)TGCCC intron-variant, upstream-variant-2KB, reference, missense
VAR_024797 A glioma sample
rs483352734 Uncertain significance 122,580,874(+) CCCAG(C/T)CCCGG intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for DMBT1 Gene

Variant ID Type Subtype PubMed ID
dgv1410n54 CNV loss 21841781
dgv1411n54 CNV loss 21841781
dgv1412n54 CNV loss 21841781
dgv1413n54 CNV loss 21841781
dgv170e214 CNV gain 21293372
dgv175n67 CNV gain 20364138
dgv176n67 CNV loss 20364138
dgv291e212 CNV loss 25503493
dgv292e212 CNV loss 25503493
dgv293e212 CNV gain 25503493
dgv294e212 CNV loss 25503493
dgv295e212 CNV loss 25503493
dgv296e212 CNV loss 25503493
dgv297e212 CNV gain 25503493
dgv298e212 CNV loss 25503493
dgv299e212 CNV loss 25503493
dgv529n106 CNV deletion 24896259
esv1000689 CNV deletion 20482838
esv23096 CNV gain+loss 19812545
esv2422149 CNV deletion 20811451
esv2658567 CNV deletion 23128226
esv2676690 CNV deletion 23128226
esv2759786 CNV gain+loss 17122850
esv2760157 CNV loss 21179565
esv2764158 CNV gain+loss 21179565
esv33340 CNV loss 17666407
esv3546970 CNV deletion 23714750
esv3577793 CNV gain 25503493
esv3579179 CNV loss 25503493
esv3584624 CNV loss 24956385
esv3624775 CNV loss 21293372
esv3624776 CNV loss 21293372
esv3624777 CNV loss 21293372
esv3624781 CNV loss 21293372
esv3624782 CNV gain 21293372
nsv1159772 CNV duplication 26073780
nsv1159773 CNV duplication 26073780
nsv1159777 OTHER complex 26073780
nsv1159778 OTHER complex 26073780
nsv428240 CNV gain+loss 18775914
nsv436043 CNV insertion 17901297
nsv442592 CNV gain+loss 18776908
nsv499097 CNV loss 21111241
nsv499308 CNV loss 21111241
nsv507579 OTHER sequence alteration 20534489
nsv508611 CNV deletion 20534489
nsv514541 CNV gain+loss 21397061
nsv514542 CNV gain 21397061
nsv55 CNV insertion 15895083
nsv552255 CNV loss 21841781
nsv552275 CNV loss 21841781
nsv56 CNV deletion 15895083
nsv7581 CNV deletion 18451855
nsv7582 CNV insertion 18451855
nsv7583 CNV insertion 18451855
nsv819547 CNV gain 19587683
nsv820718 CNV deletion 20802225
nsv821496 CNV duplication 20802225
nsv825595 CNV gain 20364138
nsv825596 CNV loss 20364138
nsv8730 CNV gain 18304495
nsv8731 CNV gain+loss 18304495
nsv948209 CNV duplication 23825009
nsv948210 CNV duplication 23825009
nsv948211 CNV duplication 23825009
nsv951865 CNV deletion 24416366
nsv951866 CNV deletion 24416366
nsv971857 CNV duplication 23825009

Variation tolerance for DMBT1 Gene

Residual Variation Intolerance Score: 99.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.80; 91.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DMBT1 Gene

Human Gene Mutation Database (HGMD)
DMBT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DMBT1

Disorders for DMBT1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for DMBT1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
medulloblastoma
  • medulloblastoma, desmoplastic
cholangitis, primary sclerosing
  • primary sclerosing cholangitis
astrocytoma
  • astrocytic tumor
grade iii astrocytoma
  • anaplastic astrocytoma
malignant glioma
- elite association - COSMIC cancer census association via MalaCards
Search DMBT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DMBT1_HUMAN
  • 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.

Relevant External Links for DMBT1

Genetic Association Database (GAD)
DMBT1
Human Genome Epidemiology (HuGE) Navigator
DMBT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DMBT1
genes like me logo Genes that share disorders with DMBT1: view

No data available for Genatlas for DMBT1 Gene

Publications for DMBT1 Gene

  1. Regulation of DMBT1 via NOD2 and TLR4 in intestinal epithelial cells modulates bacterial recognition and invasion. (PMID: 17548659) Rosenstiel P. … Schreiber S. (J. Immunol. 2007) 2 3 4 22 64
  2. DMBT1 confers mucosal protection in vivo and a deletion variant is associated with Crohn's disease. (PMID: 17983803) Renner M. … Mollenhauer J. (Gastroenterology 2007) 3 4 22 46 64
  3. DMBT1, a new member of the SRCR superfamily on chromosome 10q25.3- q26.1 is deleted in malignant brain tumours. (PMID: 9288095) Mollenhauer J. … Poustka A. (Nat. Genet. 1997) 2 3 4 22 64
  4. gp340 expressed on human genital epithelia binds HIV-1 envelope protein and facilitates viral transmission. (PMID: 17709527) Stoddard E. … Weissman D. (J. Immunol. 2007) 3 4 22 64
  5. The N-terminal SRCR-SID domain of gp-340 interacts with HIV type 1 gp120 sequences and inhibits viral infection. (PMID: 16796526) Wu Z. … Malamud D. (AIDS Res. Hum. Retroviruses 2006) 3 4 22 64

Products for DMBT1 Gene

Sources for DMBT1 Gene

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