Gene Gene information from NCBI Gene database.
Entrez ID 1755
Gene name Deleted in malignant brain tumors 1
Gene symbol DMBT1
Synonyms (NCBI Gene)
GP340SAGSALSAmuclin
Chromosome 10
Chromosome location 10q26.13
Summary 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
miRNA miRNA information provided by mirtarbase database.
2
miRTarBase ID miRNA Experiments Reference
MIRT939039 hsa-miR-197 CLIP-seq
MIRT939040 hsa-miR-5096 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0001530 Function Lipopolysaccharide binding IDA 19189310
GO:0003677 Function DNA binding IDA 19189310
GO:0005044 Function Scavenger receptor activity IDA 19189310
GO:0005044 Function Scavenger receptor activity NAS 9288095
GO:0005044 Function Scavenger receptor activity TAS 10485905
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601969 2926 ENSG00000187908
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UGM3
Protein name Scavenger receptor cysteine-rich domain-containing protein DMBT1 (Deleted in malignant brain tumors 1 protein) (Glycoprotein 340) (Gp-340) (Hensin) (Salivary agglutinin) (SAG) (Surfactant pulmonary-associated D-binding protein)
Protein 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
PDB 6SA4 , 6SA5 , 6SAN , 8J8D , 8J8T , 8WZS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00530 SRCR 105 202 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 237 334 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 366 463 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 497 594 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 605 702 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 736 833 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 865 962 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 996 1093 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 1125 1222 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 1254 1351 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 1383 1480 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 1512 1609 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 1643 1740 Scavenger receptor cysteine-rich domain Domain
PF00431 CUB 1766 1874 CUB domain Domain
PF00530 SRCR 1889 1986 Scavenger receptor cysteine-rich domain Domain
PF00431 CUB 2008 2114 CUB domain Domain
PF00100 Zona_pellucida 2127 2379 Zona pellucida-like domain Family
Tissue specificity 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, salivar
Sequence
MGISTVILEMCLLWGQVLSTGGWIPRTTDYASLIPSEVPLDPTVAEGSPFPSESTLESTV
AEGSPISLESTLESTVAEGSLIPSESTLESTVAEGSDSGLALRLVNGDGRCQGRVEILYR
GSWGTVCDDSWDTNDANVVCRQLGCGWAMSAPGNAWFGQGSGPIALDDVRCSGHESYLWS
CPHNGWLSHNCGHGEDAGVICS
AAQPQSTLRPESWPVRISPPVPTEGSESSLALRLVNGG
DRCRGRVEVLYRGSWGTVCDDYWDTNDANVVCRQLGCGWAMSAPGNAQFGQGSGPIVLDD
VRCSGHESYLWSCPHNGWLTHNCGHSEDAGVICS
APQSRPTPSPDTWPTSHASTAGPESS
LALRLVNGGDRCQGRVEVLYRGSWGTVCDDSWDTSDANVVCRQLGCGWATSAPGNARFGQ
GSGPIVLDDVRCSGYESYLWSCPHNGWLSHNCQHSEDAGVICS
AAHSWSTPSPDTLPTIT
LPASTVGSESSLALRLVNGGDRCQGRVEVLYRGSWGTVCDDSWDTNDANVVCRQLGCGWA
MLAPGNARFGQGSGPIVLDDVRCSGNESYLWSCPHNGWLSHNCGHSEDAGVICS
GPESSL
ALRLVNGGDRCQGRVEVLYRGSWGTVCDDSWDTNDANVVCRQLGCGWATSAPGNARFGQG
SGPIVLDDVRCSGHESYLWSCPNNGWLSHNCGHHEDAGVICS
AAQSRSTPRPDTLSTITL
PPSTVGSESSLTLRLVNGSDRCQGRVEVLYRGSWGTVCDDSWDTNDANVVCRQLGCGWAT
SAPGNARFGQGSGPIVLDDVRCSGHESYLWSCPHNGWLSHNCGHHEDAGVICS
VSQSRPT
PSPDTWPTSHASTAGPESSLALRLVNGGDRCQGRVEVLYRGSWGTVCDDSWDTSDANVVC
RQLGCGWATSAPGNARFGQGSGPIVLDDVRCSGYESYLWSCPHNGWLSHNCQHSEDAGVI
CS
AAHSWSTPSPDTLPTITLPASTVGSESSLALRLVNGGDRCQGRVEVLYQGSWGTVCDD
SWDTNDANVVCRQLGCGWAMSAPGNARFGQGSGPIVLDDVRCSGHESYLWSCPHNGWLSH
NCGHSEDAGVICS
ASQSRPTPSPDTWPTSHASTAGSESSLALRLVNGGDRCQGRVEVLYR
GSWGTVCDDYWDTNDANVVCRQLGCGWAMSAPGNARFGQGSGPIVLDDVRCSGHESYLWS
CPHNGWLSHNCGHHEDAGVICS
ASQSQPTPSPDTWPTSHASTAGSESSLALRLVNGGDRC
QGRVEVLYRGSWGTVCDDYWDTNDANVVCRQLGCGWATSAPGNARFGQGSGPIVLDDVRC
SGHESYLWSCPHNGWLSHNCGHHEDAGVICS
ASQSQPTPSPDTWPTSHASTAGSESSLAL
RLVNGGDRCQGRVEVLYRGSWGTVCDDYWDTNDANVVCRQLGCGWATSAPGNARFGQGSG
PIVLDDVRCSGHESYLWSCPHNGWLSHNCGHHEDAGVICS
ASQSQPTPSPDTWPTSRAST
AGSESTLALRLVNGGDRCRGRVEVLYQGSWGTVCDDYWDTNDANVVCRQLGCGWAMSAPG
NAQFGQGSGPIVLDDVRCSGHESYLWSCPHNGWLSHNCGHHEDAGVICS
AAQSQSTPRPD
TWLTTNLPALTVGSESSLALRLVNGGDRCRGRVEVLYRGSWGTVCDDSWDTNDANVVCRQ
LGCGWAMSAPGNARFGQGSGPIVLDDVRCSGNESYLWSCPHKGWLTHNCGHHEDAGVICS

ATQINSTTTDWWHPTTTTTARPSSNCGGFLFYASGTFSSPSYPAYYPNNAKCVWEIEVNS
GYRINLGFSNLKLEAHHNCSFDYVEIFDGSLNSSLLLGKICNDTRQIFTSSYNRMTIHFR
SDISFQNTGFLAWY
NSFPSDATLRLVNLNSSYGLCAGRVEIYHGGTWGTVCDDSWTIQEA
EVVCRQLGCGRAVSALGNAYFGSGSGPITLDDVECSGTESTLWQCRNRGWFSHNCNHRED
AGVICS
GNHLSTPAPFLNITRPNTDYSCGGFLSQPSGDFSSPFYPGNYPNNAKCVWDIEV
QNNYRVTVIFRDVQLEGGCNYDYIEVFDGPYRSSPLIARVCDGARGSFTSSSNFMSIRFI
SDHSITRRGFRAEY
YSSPSNDSTNLLCLPNHMQASVSRSYLQSLGFSASDLVISTWNGYY
ECRPQITPNLVIFTIPYSGCGTFKQADNDTIDYSNFLTAAVSGGIIKRRTDLRIHVSCRM
LQNTWVDTMYIANDTIHVANNTIQVEEVQYGNFDVNISFYTSSSFLYPVTSRPYYVDLNQ
DLYVQAEILHSDAVLTLFVDTCVASPYSNDFTSLTYDLIRSGCVRDDTYGPYSSPSLRIA
RFRFRAFHFLNRFPSVYLRCKMVVCRAYDPSSRCYRGCV
LRSKRDVGSYQEKVDVVLGPI
QLQTPPRREEEPR
Sequence length 2413
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Salivary secretion   Surfactant metabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DMBT1-related disorder Likely benign; Benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromegaly Acromegaly BEFREE 27682353
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 11751412, 16042587
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 15760920, 16042587
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 16042587
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 26970738
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 11354413, 9288095
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 27416785
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 31810134
★☆☆☆☆
Found in Text Mining only
Anaplastic astrocytoma Anaplastic Astrocytoma BEFREE 11596960, 12168116
★☆☆☆☆
Found in Text Mining only
Aortic Valve Insufficiency Aortic Valve Insufficiency BEFREE 31810134
★☆☆☆☆
Found in Text Mining only