AutismKB 2.0

Annotation Details for DMBT1


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Basic Information Top
Gene Symbol:DMBT1 ( FLJ61058,GP340,MGC164738,muclin )
Gene Full Name: deleted in malignant brain tumors 1
Band: 10q26.13
Quick LinksEntrez ID:1755; OMIM: 601969; Uniprot ID:DMBT1_HUMAN; ENSEMBL ID: ENSG00000187908; HGNC ID: 2926
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576TAS-extracellular region14732920
GO:0005615IDA-extracellular space22664934
GO:0005737IDA-cytoplasm10485905
GO:0019898ISS-extrinsic component of membrane-
GO:0030670IDA-phagocytic vesicle membrane10485905
GO:0042589ISS-zymogen granule membrane-
GO:0070062IDA-extracellular exosome19199708
GO ID Evidence Qualifier GO_term References
GO:0005044NAS-scavenger receptor activity9288095
GO:0005044TAS-scavenger receptor activity10485905
GO:0005515IPI-protein binding10101009
GO:0008329TAS-signaling pattern recognition receptor activity12681477
GO:0035375ISS-zymogen binding-
GO:0048306TAS-calcium-dependent protein binding10485905
GO ID Evidence Qualifier GO_term References
GO:0002221IEA-pattern recognition receptor signaling pathway-
GO:0006898IEA-receptor-mediated endocytosis-
GO:0007275IEA-multicellular organism development-
GO:0015031IEA-protein transport-
GO:0030855NAS-epithelial cell differentiation14676191
GO:0030855TAS-epithelial cell differentiation14732920
GO:0043152TAS-induction of bacterial agglutination14732920
GO:0044267TAS-cellular protein metabolic process-
GO:0045087TAS-innate immune response10485905
GO:0050829ISS-defense response to Gram-negative bacterium-
GO:0050830ISS-defense response to Gram-positive bacterium-
GO:0051607IEA-defense response to virus-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SFTPDDMBT11080959153228 10101009 Co-purification; Reconstituted Complex
SFTPDDMBT11123399153228 10101009 Co-purification; Reconstituted Complex
SFTPA1DMBT110809510101009 Co-purification; Reconstituted Complex
SFTPA1DMBT157583910101009 Co-purification; Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:106210
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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