ENSG00000106483


Homo sapiens

Features
Gene ID: ENSG00000106483
  
Biological name :SFRP4
  
Synonyms : Q6FHJ7 / secreted frizzled related protein 4 / SFRP4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: p14.1
Gene start: 37905932
Gene end: 38025695
  
Corresponding Affymetrix probe sets: 204051_s_at (Human Genome U133 Plus 2.0 Array)   204052_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000402262
Ensembl peptide - ENSP00000410715
NCBI entrez gene - 6424     See in Manteia.
OMIM - 606570
RefSeq - NM_003014
RefSeq Peptide - NP_003005
swissprot - C9JMJ2
swissprot - Q6FHJ7
Ensembl - ENSG00000106483
  
Related genetic diseases (OMIM): 265900 - Pyle disease, 265900
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
 SFRP4ENSGALG00000031997Gallus gallus
 Sfrp4ENSMUSG00000021319Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
FRZB / Q92765 / frizzled related proteinENSG0000016299847
FZD5 / Q13467 / frizzled class receptor 5ENSG0000016325128
FZD1 / Q9UP38 / frizzled class receptor 1ENSG0000015724027
FZD7 / O75084 / frizzled class receptor 7ENSG0000015576026
FZD8 / Q9H461 / frizzled class receptor 8ENSG0000017728326
FZD9 / O00144 / frizzled class receptor 9ENSG0000018876326
FZD2 / Q14332 / frizzled class receptor 2ENSG0000018034025
FZD10 / Q9ULW2 / frizzled class receptor 10ENSG0000011143223
FZD3 / Q9NPG1 / frizzled class receptor 3ENSG0000010429022
FZD4 / Q9ULV1 / frizzled class receptor 4ENSG0000017480422
FZD6 / O60353 / frizzled class receptor 6ENSG0000016493021
SMO / Q99835 / smoothened, frizzled class receptorENSG0000012860220
SFRP1 / Q8N474 / secreted frizzled related protein 1ENSG0000010433215
SFRP5 / Q5T4F7 / secreted frizzled related protein 5ENSG0000012005714
SFRP2 / Q96HF1 / secreted frizzled related protein 2ENSG0000014542312


Protein motifs (from Interpro)
Interpro ID Name
 IPR001134  Netrin domain
 IPR008993  Tissue inhibitor of metalloproteinases-like, OB-fold
 IPR015526  Frizzled/secreted frizzled-related protein
 IPR018933  Netrin module, non-TIMP type
 IPR020067  Frizzled domain
 IPR026560  Secreted frizzled-related protein 4
 IPR036790  Frizzled cysteine-rich domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002092 positive regulation of receptor internalization IDA
 biological_processGO:0007186 G-protein coupled receptor signaling pathway IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0008285 negative regulation of cell proliferation IMP
 biological_processGO:0009725 response to hormone NAS
 biological_processGO:0010628 positive regulation of gene expression IDA
 biological_processGO:0016055 Wnt signaling pathway IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030178 negative regulation of Wnt signaling pathway NAS
 biological_processGO:0030510 regulation of BMP signaling pathway IEA
 biological_processGO:0035567 non-canonical Wnt signaling pathway IBA
 biological_processGO:0043065 positive regulation of apoptotic process IMP
 biological_processGO:0043433 negative regulation of DNA-binding transcription factor activity IDA
 biological_processGO:0045606 positive regulation of epidermal cell differentiation IDA
 biological_processGO:0055062 phosphate ion homeostasis IDA
 biological_processGO:0060349 bone morphogenesis IEA
 biological_processGO:0090090 negative regulation of canonical Wnt signaling pathway IEA
 biological_processGO:0090263 positive regulation of canonical Wnt signaling pathway IGI
 biological_processGO:1902174 positive regulation of keratinocyte apoptotic process IDA
 biological_processGO:2000051 negative regulation of non-canonical Wnt signaling pathway IEA
 biological_processGO:2000119 negative regulation of sodium-dependent phosphate transport IDA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0016021 integral component of membrane IBA
 molecular_functionGO:0004930 G-protein coupled receptor activity IBA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0017147 Wnt-protein binding IDA
 molecular_functionGO:0042813 Wnt-activated receptor activity IBA


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:0000303 Mandibular prognathia "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators]
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 HP:0000670 Carious teeth 
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 HP:0000684 Delayed dentition "Delayed eruption of teeth." [HPO:curators]
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 HP:0000765 Abnormality of the thorax "Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs)." [HPO:curators]
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 HP:0000926 Platyspondyly 
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 HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
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 HP:0001377 Limited elbow extension 
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002684 Thickened calvaria "The presence of an abnormally thick calvaria." [HPO:curators]
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 HP:0002689 Absent paranasal sinuses 
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 HP:0002738 Hypoplastic frontal sinuses 
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 HP:0002829 Arthralgia 
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 HP:0002857 Genu valgum 
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 HP:0004349 Reduced bone mineral density "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [HPO:curators]
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 HP:0100255 Metaphyseal dysplasia "The presence of dysplastic regions in metaphyseal bones." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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