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)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
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) No match
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