ENSG00000160111


Homo sapiens

Features
Gene ID: ENSG00000160111
  
Biological name :CPAMD8
  
Synonyms : C3 and PZP like, alpha-2-macroglobulin domain containing 8 / CPAMD8 / Q8IZJ3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: p13.11
Gene start: 16892947
Gene end: 17026815
  
Corresponding Affymetrix probe sets: 227721_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000473216
Ensembl peptide - ENSP00000469163
Ensembl peptide - ENSP00000471545
Ensembl peptide - ENSP00000291440
Ensembl peptide - ENSP00000373577
Ensembl peptide - ENSP00000402505
NCBI entrez gene - 27151     See in Manteia.
OMIM - 608841
RefSeq - XM_017026594
RefSeq - XM_011527920
RefSeq - XM_011527921
RefSeq - XM_011527922
RefSeq - XM_011527923
RefSeq - XM_011527924
RefSeq - XM_011527925
RefSeq - NM_015692
RefSeq - XM_011527917
RefSeq - XM_011527918
RefSeq - XM_011527919
RefSeq Peptide - NP_056507
swissprot - M0QXH3
swissprot - M0R0Z5
swissprot - M0R3G7
swissprot - F8W7D1
swissprot - Q8IZJ3
Ensembl - ENSG00000160111
  
Related genetic diseases (OMIM): 617319 - Anterior segment dysgenesis 8, 617319
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
 cpamd8ENSDARG00000056530Danio rerio
 CPAMD8ENSGALG00000003742Gallus gallus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CD109 / Q6YHK3 / CD109 moleculeENSG0000015653523
A2ML1 / A8K2U0 / alpha-2-macroglobulin like 1ENSG0000016653521
PZP / P20742 / PZP, alpha-2-macroglobulin likeENSG0000012683821
A2M / P01023 / alpha-2-macroglobulinENSG0000017589921
C3 / P01024 / complement C3ENSG0000012573019
C4B / P0C0L5 / complement C4B (Chido blood group)ENSG0000022438918
C4A / P0C0L4 / complement C4A (Rodgers blood group)ENSG0000024473118
C5 / P01031 / complement C5ENSG0000010680416


Protein motifs (from Interpro)
Interpro ID Name
 IPR001599  Alpha-2-macroglobulin
 IPR002350  Kazal domain
 IPR002890  Alpha-2-macroglobulin, N-terminal
 IPR008930  Terpenoid cyclases/protein prenyltransferase alpha-alpha toroid
 IPR009048  Alpha-macroglobulin, receptor-binding
 IPR011625  Alpha-2-macroglobulin, N-terminal 2
 IPR011626  Alpha-macroglobulin complement component
 IPR013783  Immunoglobulin-like fold
 IPR014756  Immunoglobulin E-set
 IPR019565  Alpha-2-macroglobulin, thiol-ester bond-forming
 IPR019742  Alpha-2-macroglobulin, conserved site
 IPR022041  Farnesoic acid O-methyl transferase
 IPR036058  Kazal domain superfamily
 IPR036595  Alpha-macroglobulin, receptor-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001654 eye development IMP
 biological_processGO:0010466 negative regulation of peptidase activity IEA
 biological_processGO:0010951 negative regulation of endopeptidase activity IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 molecular_functionGO:0004866 endopeptidase inhibitor activity IEA
 molecular_functionGO:0004867 serine-type endopeptidase inhibitor activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0030414 peptidase inhibitor activity 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:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
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 HP:0001083 Ectopia lentis 
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 HP:0001093 Optic nerve dysplasia 
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 HP:0007676 Hypoplasia of the iris 
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 HP:0009917 Persistent pupillary membrane "The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil." [HPO:curators]
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 HP:0009918 Ectopia pupillae "A malposition of the pupil." [HPO:curators]
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 HP:0012376 Microphakia "Abnormal smallness of the `lens` (FMA:58241)." [HPO:probinson]
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 HP:0012805 Iris transillumination defect "Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris." [HPO:probinson, pmid:19920562]
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 HP:0025358 Uveal ectropion "Presence of iris pigment epithelium on the anterior surface of the iris." []
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 HP:0100693 Iridodonesis "Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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