ENSG00000117983


Homo sapiens

Features
Gene ID: ENSG00000117983
  
Biological name :MUC5B
  
Synonyms : MUC5B / mucin 5B, oligomeric mucus/gel-forming / Q9HC84
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: p15.5
Gene start: 1223066
Gene end: 1262172
  
Corresponding Affymetrix probe sets: 213432_at (Human Genome U133 Plus 2.0 Array)   222268_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000434539
Ensembl peptide - ENSP00000436812
NCBI entrez gene - 727897     See in Manteia.
OMIM - 600770
RefSeq - NM_002458
RefSeq Peptide - NP_002449
swissprot - Q9HC84
swissprot - H0YDX8
Ensembl - ENSG00000117983
  
Related genetic diseases (OMIM): 178500 - {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500
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
 muc5.1ENSDARG00000070331Danio rerio
 muc5.2ENSDARG00000058556Danio rerio
 muc5.3ENSDARG00000099470Danio rerio
 ENSGALG00000034144Gallus gallus
 ENSGALG00000031737Gallus gallus
 ovomucin precursor ENSGALG00000006717Gallus gallus
 Muc5bENSMUSG00000066108Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MUC5AC / P98088 / mucin 5AC, oligomeric mucus/gel-formingENSG0000021518229
MUC6 / Q6W4X9 / mucin 6, oligomeric mucus/gel-formingENSG0000018495613
SSPO / SCO-spondinENSG0000019755813
VWF / P04275 / von Willebrand factorENSG0000011079912
OTOG / Q6ZRI0 / otogelinENSG0000018816211
OTOGL / Q3ZCN5 / otogelin likeENSG000001658999
ZAN / zonadhesin (gene/pseudogene)ENSG000001468397
FCGBP / Fc fragment of IgG binding proteinENSG000002753957
TECTA / O75443 / tectorin alphaENSG000001099276


Protein motifs (from Interpro)
Interpro ID Name
 IPR001007  VWFC domain
 IPR001846  von Willebrand factor, type D domain
 IPR002919  Trypsin Inhibitor-like, cysteine rich domain
 IPR006207  Cystine knot, C-terminal
 IPR014853  Uncharacterised domain, cysteine-rich
 IPR025155  WxxW domain
 IPR036084  Serine protease inhibitor-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002223 stimulatory C-type lectin receptor signaling pathway TAS
 biological_processGO:0016266 O-glycan processing TAS
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space HDA
 cellular_componentGO:0005796 Golgi lumen TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005515 protein binding IEA


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
 HP:0002020 Gastroesophageal reflux 
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 HP:0002110 Bronchiectasis 
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 HP:0002206 Pulmonary fibrosis 
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 HP:0002875 Exertional dyspnea 
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 HP:0010444 Pulmonary insufficiency "The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole." [HPO:curators]
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 HP:0012735 Cough "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [HPO:probinson]
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 HP:0025175 Honeycomb lung "Extensive interstitial fibrosis with alveolar disruption and bronchiolectasis." []
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 HP:0025179 Ground-glass opacification "A descriptive term that is applied to computer tomography imaging and that refers to a hazy area of increased attenuation in the lung with preserved bronchial and vascular markings." []
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 HP:0025390 Reticular pattern on pulmonary HRCT "On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh." [PMID:23247773]
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 HP:0030830 Rales "Abnormal breath sounds characterized by discontinuous clicking or rattling." [UToronto:chum]
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 HP:0100759 Clubbing of fingers "Terminal broadening of the fingers (distal phalanges of the fingers)." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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