ENSG00000169126


Homo sapiens

Features
Gene ID: ENSG00000169126
  
Biological name :ARMC4
  
Synonyms : armadillo repeat containing 4 / ARMC4 / Q5T2S8
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: -1
Band: p12.1
Gene start: 27812164
Gene end: 27999048
  
Corresponding Affymetrix probe sets: 221077_at (Human Genome U133 Plus 2.0 Array)   223794_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000473438
Ensembl peptide - ENSP00000306410
Ensembl peptide - ENSP00000398155
NCBI entrez gene - 55130     See in Manteia.
OMIM - 615408
RefSeq - XM_017016371
RefSeq - NM_001290020
RefSeq - NM_001312689
RefSeq - NM_018076
RefSeq - XM_011519528
RefSeq - XM_011519533
RefSeq - XM_011519534
RefSeq - XM_011519535
RefSeq - XM_017016368
RefSeq - XM_017016369
RefSeq - XM_017016370
RefSeq - XM_011519527
RefSeq Peptide - NP_001276949
RefSeq Peptide - NP_001299618
RefSeq Peptide - NP_060546
swissprot - Q5T2S8
swissprot - Q5T2S9
swissprot - R4GN11
swissprot - A0A140VKF7
Ensembl - ENSG00000169126
  
Related genetic diseases (OMIM): 615451 - Ciliary dyskinesia, primary, 23, 615451
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
 ARMC4ENSGALG00000007417Gallus gallus
 Armc4ENSMUSG00000061802Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ARMC3 / Q5W041 / armadillo repeat containing 3ENSG0000016530914


Protein motifs (from Interpro)
Interpro ID Name
 IPR000225  Armadillo
 IPR011989  Armadillo-like helical
 IPR016024  Armadillo-type fold
 IPR023231  GSKIP domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003341 cilium movement IMP
 biological_processGO:0003356 regulation of cilium beat frequency IMP
 biological_processGO:0007368 determination of left/right symmetry IMP
 biological_processGO:0007507 heart development IEA
 biological_processGO:0021591 ventricular system development IEA
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0036158 outer dynein arm assembly IMP
 cellular_componentGO:0005634 nucleus IBA
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0005930 axoneme IDA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0097546 ciliary base IDA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000403 Recurrent otitis media 
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 HP:0001696 Situs inversus "A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs." [HPO:curators]
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 HP:0002110 Bronchiectasis 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0004469 Chronic bronchitis 
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 HP:0011108 Recurrent sinusitis "A `recurrent` (PATO:0000427) form of `sinusitis` (HP:0000246)." [HPO:probinson]
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 HP:0012265 Ciliary dyskinesia "A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia." [HPO:probinson, pmid:19606528]
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 HP:0012384 Rhinitis "Inflammation of the nasal mucosa with nasal congestion." [HPO:probinson]
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 HP:0200073 Respiratory insufficiency due to defective ciliary clearance 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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