ENSG00000164930


Homo sapiens

Features
Gene ID: ENSG00000164930
  
Biological name :FZD6
  
Synonyms : frizzled class receptor 6 / FZD6 / O60353
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: 1
Band: q22.3
Gene start: 103298433
Gene end: 103332866
  
Corresponding Affymetrix probe sets: 203987_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000427733
Ensembl peptide - ENSP00000428188
Ensembl peptide - ENSP00000429528
Ensembl peptide - ENSP00000429055
Ensembl peptide - ENSP00000428301
Ensembl peptide - ENSP00000428257
Ensembl peptide - ENSP00000351605
NCBI entrez gene - 8323     See in Manteia.
OMIM - 603409
RefSeq - NM_003506
RefSeq - NM_001164615
RefSeq - NM_001164616
RefSeq - NM_001317796
RefSeq Peptide - NP_003497
RefSeq Peptide - NP_001158087
RefSeq Peptide - NP_001158088
RefSeq Peptide - NP_001304725
swissprot - O60353
swissprot - E5RJG0
swissprot - E5RGK8
swissprot - A0A024R9E9
swissprot - G5EA13
swissprot - E5RJT4
Ensembl - ENSG00000164930
  
Related genetic diseases (OMIM): 614157 - Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), 614157
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
 CABZ01088508.1ENSDARG00000104874Danio rerio
 FZD6ENSGALG00000030626Gallus gallus
 Fzd6ENSMUSG00000022297Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
FZD3 / Q9NPG1 / frizzled class receptor 3ENSG0000010429050
FZD1 / Q9UP38 / frizzled class receptor 1ENSG0000015724033
FZD2 / Q14332 / frizzled class receptor 2ENSG0000018034032
FZD7 / O75084 / frizzled class receptor 7ENSG0000015576032
FZD5 / Q13467 / frizzled class receptor 5ENSG0000016325129
FZD8 / Q9H461 / frizzled class receptor 8ENSG0000017728329
FZD9 / O00144 / frizzled class receptor 9ENSG0000018876327
FZD10 / Q9ULW2 / frizzled class receptor 10ENSG0000011143227
FZD4 / Q9ULV1 / frizzled class receptor 4ENSG0000017480424
SMO / Q99835 / smoothened, frizzled class receptorENSG0000012860222
FRZB / Q92765 / frizzled related proteinENSG0000016299810
SFRP4 / Q6FHJ7 / secreted frizzled related protein 4ENSG0000010648310
SFRP1 / Q8N474 / secreted frizzled related protein 1ENSG000001043329
SFRP5 / Q5T4F7 / secreted frizzled related protein 5ENSG000001200579
SFRP2 / Q96HF1 / secreted frizzled related protein 2ENSG000001454239


Protein motifs (from Interpro)
Interpro ID Name
 IPR000539  Frizzled/Smoothened, transmembrane domain
 IPR015526  Frizzled/secreted frizzled-related protein
 IPR017981  GPCR, family 2-like
 IPR020067  Frizzled domain
 IPR026543  Frizzled-6
 IPR036790  Frizzled cysteine-rich domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001736 establishment of planar polarity IEA
 biological_processGO:0001843 neural tube closure IEA
 biological_processGO:0001942 hair follicle development IEA
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007166 cell surface receptor signaling pathway IEA
 biological_processGO:0007186 G-protein coupled receptor signaling pathway IEA
 biological_processGO:0007223 Wnt signaling pathway, calcium modulating pathway TAS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0016055 Wnt signaling pathway IEA
 biological_processGO:0030168 platelet activation IEA
 biological_processGO:0030901 midbrain development IEA
 biological_processGO:0033278 cell proliferation in midbrain IEA
 biological_processGO:0035567 non-canonical Wnt signaling pathway IDA
 biological_processGO:0035880 embryonic nail plate morphogenesis IEA
 biological_processGO:0042472 inner ear morphogenesis IEA
 biological_processGO:0043433 negative regulation of DNA-binding transcription factor activity IDA
 biological_processGO:0048105 establishment of body hair planar orientation IEA
 biological_processGO:0060071 Wnt signaling pathway, planar cell polarity pathway NAS
 biological_processGO:0090090 negative regulation of canonical Wnt signaling pathway IMP
 biological_processGO:1904693 midbrain morphogenesis TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane ISS
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IBA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0016327 apicolateral plasma membrane IEA
 cellular_componentGO:0030659 cytoplasmic vesicle membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0045177 apical part of cell IEA
 molecular_functionGO:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0004888 transmembrane signaling receptor activity IEA
 molecular_functionGO:0004930 G-protein coupled receptor activity IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017147 Wnt-protein binding ISS
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0042813 Wnt-activated receptor activity NAS


Pathways (from Reactome)
Pathway description
Class B/2 (Secretin family receptors)
Ca2+ pathway
PCP/CE pathway
Regulation of FZD by ubiquitination
RNF mutants show enhanced WNT signaling and proliferation


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:0001806 Onycholysis 
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 HP:0012542 Onychauxis "Thickened nails without deformity." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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