ENSG00000129295


Homo sapiens

Features
Gene ID: ENSG00000129295
  
Biological name :LRRC6
  
Synonyms : leucine rich repeat containing 6 / LRRC6 / Q86X45
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: -1
Band: q24.22
Gene start: 132571953
Gene end: 132675617
  
Corresponding Affymetrix probe sets: 206483_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000429811
Ensembl peptide - ENSP00000429791
Ensembl peptide - ENSP00000484634
Ensembl peptide - ENSP00000484802
Ensembl peptide - ENSP00000250173
Ensembl peptide - ENSP00000428015
Ensembl peptide - ENSP00000428610
Ensembl peptide - ENSP00000429158
NCBI entrez gene - 23639     See in Manteia.
OMIM - 614930
RefSeq - XM_017013298
RefSeq - NM_001321961
RefSeq - NM_001321962
RefSeq - NM_001321963
RefSeq - NM_001321964
RefSeq - NM_001321965
RefSeq - NM_001321966
RefSeq - NM_012472
RefSeq - XM_006716538
RefSeq - XM_011516950
RefSeq - XM_017013296
RefSeq - XM_017013297
RefSeq Peptide - NP_001308890
RefSeq Peptide - NP_001308891
RefSeq Peptide - NP_001308892
RefSeq Peptide - NP_001308893
RefSeq Peptide - NP_001308894
RefSeq Peptide - NP_001308895
RefSeq Peptide - NP_036604
swissprot - Q86X45
swissprot - E5RHF9
swissprot - G5EA20
swissprot - H0YAS5
swissprot - H0YBC4
swissprot - A0A087X298
Ensembl - ENSG00000129295
  
Related genetic diseases (OMIM): 614935 - Ciliary dyskinesia, primary, 19, 614935
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
 lrrc6ENSDARG00000053318Danio rerio
 LRRC6ENSGALG00000042548Gallus gallus
 Lrrc6ENSMUSG00000022375Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
LRRC46 / Q96FV0 / leucine rich repeat containing 46ENSG0000014129417


Protein motifs (from Interpro)
Interpro ID Name
 IPR001611  Leucine-rich repeat
 IPR003603  U2A"/phosphoprotein 32 family A, C-terminal
 IPR007052  CS domain
 IPR008978  HSP20-like chaperone
 IPR032675  Leucine-rich repeat domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003341 cilium movement IMP
 biological_processGO:0008584 male gonad development IEA
 biological_processGO:0030317 flagellated sperm motility IMP
 biological_processGO:0036158 outer dynein arm assembly IMP
 biological_processGO:0036159 inner dynein arm assembly IMP
 biological_processGO:0044458 motile cilium assembly IMP
 biological_processGO:0060287 epithelial cilium movement involved in determination of left/right asymmetry IMP
 biological_processGO:0061458 reproductive system development IMP
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0005929 cilium IDA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0003674 molecular_function ND
 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:0012207 Reduced sperm motility "An abnormal reduction in the mobility of ejaculated sperm." [HPO:probinson]
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 HP:0012259 Absent inner and outer dynein arms "Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy." [HPO:probinson, pmid:19606528]
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 HP:0012263 Immotile cilia 
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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:0100582 Nasal polyposis "Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis." [HPO:sdoelken]
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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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