ENSG00000168615


Homo sapiens

Features
Gene ID: ENSG00000168615
  
Biological name :ADAM9
  
Synonyms : ADAM9 / ADAM metallopeptidase domain 9 / Q13443
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: 1
Band: p11.22
Gene start: 38996869
Gene end: 39105144
  
Corresponding Affymetrix probe sets: 1555326_a_at (Human Genome U133 Plus 2.0 Array)   1570042_a_at (Human Genome U133 Plus 2.0 Array)   202381_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000419446
Ensembl peptide - ENSP00000417066
Ensembl peptide - ENSP00000420257
Ensembl peptide - ENSP00000418437
Ensembl peptide - ENSP00000418737
Ensembl peptide - ENSP00000369249
NCBI entrez gene - 8754     See in Manteia.
OMIM - 602713
RefSeq - XM_017013942
RefSeq - NM_003816
RefSeq - XM_011544682
RefSeq Peptide - NP_003807
swissprot - F8WC54
swissprot - C9JPM3
swissprot - Q13443
swissprot - C9J6H5
swissprot - A0AVL1
Ensembl - ENSG00000168615
  
Related genetic diseases (OMIM): 612775 - Cone-rod dystrophy 9, 612775
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
 adam9ENSDARG00000010070Danio rerio
 ADAM9ENSGALG00000003398Gallus gallus
 Adam9ENSMUSG00000031555Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ADAM30 / Q9UKF2 / ADAM metallopeptidase domain 30ENSG0000013424933
ADAM20 / O43506 / ADAM metallopeptidase domain 20ENSG0000013400732
ADAM29 / Q9UKF5 / ADAM metallopeptidase domain 29ENSG0000016859432
ADAM21 / Q9UKJ8 / ADAM metallopeptidase domain 21ENSG0000013998531
ADAM2 / Q99965 / ADAM metallopeptidase domain 2ENSG0000010475530
ADAM18 / Q9Y3Q7 / ADAM metallopeptidase domain 18ENSG0000016861929
ADAM32 / Q8TC27 / ADAM metallopeptidase domain 32ENSG0000019714029


Protein motifs (from Interpro)
Interpro ID Name
 IPR000742  EGF-like domain
 IPR001590  Peptidase M12B, ADAM/reprolysin
 IPR001762  Disintegrin domain
 IPR002870  Peptidase M12B, propeptide
 IPR006586  ADAM, cysteine-rich
 IPR013032  EGF-like, conserved site
 IPR018358  Disintegrin, conserved site
 IPR024079  Metallopeptidase, catalytic domain superfamily
 IPR034027  Reprolysin domain, adamalysin-type
 IPR036436  Disintegrin domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000186 activation of MAPKK activity IDA
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006509 membrane protein ectodomain proteolysis IMP
 biological_processGO:0007155 cell adhesion IMP
 biological_processGO:0007160 cell-matrix adhesion IMP
 biological_processGO:0007179 transforming growth factor beta receptor signaling pathway ISS
 biological_processGO:0007229 integrin-mediated signaling pathway IC
 biological_processGO:0010042 response to manganese ion IMP
 biological_processGO:0016477 cell migration ISS
 biological_processGO:0030216 keratinocyte differentiation IEP
 biological_processGO:0033627 cell adhesion mediated by integrin ISS
 biological_processGO:0033630 positive regulation of cell adhesion mediated by integrin IMP
 biological_processGO:0033631 cell-cell adhesion mediated by integrin IEP
 biological_processGO:0034241 positive regulation of macrophage fusion IMP
 biological_processGO:0034612 response to tumor necrosis factor IDA
 biological_processGO:0034616 response to laminar fluid shear stress IEA
 biological_processGO:0042117 monocyte activation IMP
 biological_processGO:0042542 response to hydrogen peroxide IMP
 biological_processGO:0050714 positive regulation of protein secretion IDA
 biological_processGO:0051044 positive regulation of membrane protein ectodomain proteolysis ISS
 biological_processGO:0051088 PMA-inducible membrane protein ectodomain proteolysis TAS
 biological_processGO:0051384 response to glucocorticoid ISS
 biological_processGO:0051549 positive regulation of keratinocyte migration IMP
 biological_processGO:0051592 response to calcium ion IMP
 biological_processGO:0071222 cellular response to lipopolysaccharide IMP
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space ISS
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005925 focal adhesion HDA
 cellular_componentGO:0009986 cell surface ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IEA
 cellular_componentGO:0031233 intrinsic component of external side of plasma membrane ISS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0004222 metalloendopeptidase activity IMP
 molecular_functionGO:0005080 protein kinase C binding ISS
 molecular_functionGO:0005178 integrin binding IPI
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005518 collagen binding IMP
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008237 metallopeptidase activity IMP
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0017124 SH3 domain binding ISS
 molecular_functionGO:0043236 laminin binding IMP
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Collagen degradation


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:0000505 Impaired vision 
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 HP:0000548 Cone-rod dystrophy 
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 HP:0000551 Abnormal color vision 
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 HP:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
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 HP:0000662 Night blindness 
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 HP:0007703 Abnormal retinal pigmentation 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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