ENSG00000116690


Homo sapiens

Features
Gene ID: ENSG00000116690
  
Biological name :PRG4
  
Synonyms : PRG4 / proteoglycan 4 / Q92954
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q31.1
Gene start: 186296279
Gene end: 186314562
  
Corresponding Affymetrix probe sets: 206007_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000399679
Ensembl peptide - ENSP00000356455
Ensembl peptide - ENSP00000431330
Ensembl peptide - ENSP00000489292
Ensembl peptide - ENSP00000356452
Ensembl peptide - ENSP00000356453
NCBI entrez gene - 10216     See in Manteia.
OMIM - 604283
RefSeq - XM_017000003
RefSeq - NM_001127708
RefSeq - NM_001127709
RefSeq - NM_001127710
RefSeq - NM_001303232
RefSeq - NM_005807
RefSeq - XM_017000002
RefSeq Peptide - NP_001121182
RefSeq Peptide - NP_001290161
RefSeq Peptide - NP_005798
RefSeq Peptide - NP_001121180
RefSeq Peptide - NP_001121181
swissprot - Q92954
swissprot - E9PLR3
swissprot - J3KP74
swissprot - A0A0U1RR20
Ensembl - ENSG00000116690
  
Related genetic diseases (OMIM): 208250 - Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250
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
 prg4aENSDARG00000010482Danio rerio
 prg4bENSDARG00000028163Danio rerio
 Prg4ENSMUSG00000006014Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
VTN / P04004 / vitronectinENSG000001090728
AC002094.3ENSG000002731711


Protein motifs (from Interpro)
Interpro ID Name
 IPR000585  Hemopexin-like domain
 IPR001212  Somatomedin B domain
 IPR018486  Hemopexin, conserved site
 IPR018487  Hemopexin-like repeats
 IPR020436  Somatomedin B, chordata
 IPR036024  Somatomedin B-like domain superfamily
 IPR036375  Hemopexin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006898 receptor-mediated endocytosis IEA
 biological_processGO:0006955 immune response IEA
 biological_processGO:0008283 cell proliferation TAS
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0031012 extracellular matrix IDA
 molecular_functionGO:0005044 scavenger receptor activity IEA
 molecular_functionGO:0030247 polysaccharide 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:0001239 Wrist contractures 
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 HP:0001369 Arthritis 
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 HP:0002563 Constrictive pericarditis 
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 HP:0002812 Coxa vara 
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 HP:0003040 Arthropathy 
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 HP:0005186 Synovial hypertrophy 
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 HP:0005194 Flattened metatarsal and metacarpal heads 
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 HP:0005197 Generalized morning stiffness "A sensation of stiffness in the joints that occurs following waking up in the morning." [HPO:curators]
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 HP:0005879 Congenital finger flexion contractures 
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 HP:0011909 Flattened metacarpal heads "Abnormally flat shape of the heads of the metacarpal bones." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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