ENSG00000101282


Homo sapiens

Features
Gene ID: ENSG00000101282
  
Biological name :RSPO4
  
Synonyms : Q2I0M5 / RSPO4 / R-spondin 4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 20
Strand: -1
Band: p13
Gene start: 958452
Gene end: 1002264
  
Corresponding Affymetrix probe sets: 237423_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000217260
Ensembl peptide - ENSP00000383475
NCBI entrez gene - 343637     See in Manteia.
OMIM - 610573
RefSeq - XM_017027839
RefSeq - NM_001029871
RefSeq - NM_001040007
RefSeq Peptide - NP_001035096
RefSeq Peptide - NP_001025042
swissprot - Q2I0M5
Ensembl - ENSG00000101282
  
Related genetic diseases (OMIM): 206800 - Anonychia congenita, 206800
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
 rspo4ENSDARG00000038593Danio rerio
 RSPO4ENSGALG00000023640Gallus gallus
 Rspo4ENSMUSG00000032852Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
RSPO2 / Q6UXX9 / R-spondin 2ENSG0000014765537
RSPO3 / Q9BXY4 / R-spondin 3ENSG0000014637436
RSPO1 / Q2MKA7 / R-spondin 1ENSG0000016921836


Protein motifs (from Interpro)
Interpro ID Name
 IPR000884  Thrombospondin type-1 (TSP1) repeat
 IPR006212  Furin-like repeat
 IPR009030  Growth factor receptor cysteine-rich domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0016055 Wnt signaling pathway IEA
 biological_processGO:0030177 positive regulation of Wnt signaling pathway NAS
 biological_processGO:0035878 nail development IMP
 biological_processGO:0050896 response to stimulus IEA
 cellular_componentGO:0005576 extracellular region NAS
 molecular_functionGO:0008201 heparin binding IEA


Pathways (from Reactome)
Pathway description
Regulation of FZD by ubiquitination


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:0001798 Anonychia "Total absence of nails." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000183579 ZNRF3 / Q9ULT6 / zinc and ring finger 3  / complex / reaction
 ENSG00000108375 RNF43 / Q68DV7 / ring finger protein 43  / complex / reaction
 ENSG00000139292 LGR5 / O75473 / leucine rich repeat containing G protein-coupled receptor 5  / complex / reaction
 ENSG00000133067 LGR6 / Q9HBX8 / leucine rich repeat containing G protein-coupled receptor 6  / complex / reaction
 ENSG00000205213 LGR4 / Q9BXB1 / leucine rich repeat containing G protein-coupled receptor 4  / complex / reaction






 

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