ENSG00000171195


Homo sapiens

Features
Gene ID: ENSG00000171195
  
Biological name :MUC7
  
Synonyms : MUC7 / mucin 7, secreted / Q8TAX7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: q13.3
Gene start: 70430492
Gene end: 70482997
  
Corresponding Affymetrix probe sets: 216359_at (Human Genome U133 Plus 2.0 Array)   217059_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000427594
Ensembl peptide - ENSP00000302021
Ensembl peptide - ENSP00000400585
Ensembl peptide - ENSP00000407422
NCBI entrez gene - 4589     See in Manteia.
OMIM - 158375
RefSeq - NM_001145006
RefSeq - NM_001145007
RefSeq - NM_152291
RefSeq Peptide - NP_001138478
RefSeq Peptide - NP_001138479
RefSeq Peptide - NP_689504
swissprot - Q8TAX7
swissprot - D6RHX1
Ensembl - ENSG00000171195
  
Related genetic diseases (OMIM): 600807 - {Asthma, protection against}, 600807
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
No match


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR033529  Mucin-7


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002223 stimulatory C-type lectin receptor signaling pathway TAS
 biological_processGO:0016266 O-glycan processing TAS
 biological_processGO:0031640 killing of cells of other organism IDA
 biological_processGO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide IDA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005796 Golgi lumen TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0044218 other organism cell membrane IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0097679 other organism cytoplasm IDA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC)
Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS)
Defective GALNT12 causes colorectal cancer 1 (CRCS1)
Dectin-2 family
O-linked glycosylation of mucins
Termination of O-glycan biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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contact: otassy@igbmc.fr