ENSG00000188153


Homo sapiens

Features
Gene ID: ENSG00000188153
  
Biological name :COL4A5
  
Synonyms : COL4A5 / collagen type IV alpha 5 chain / P29400
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: q22.3
Gene start: 108439844
Gene end: 108697545
  
Corresponding Affymetrix probe sets: 213110_s_at (Human Genome U133 Plus 2.0 Array)   234387_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000495685
Ensembl peptide - ENSP00000424845
Ensembl peptide - ENSP00000495101
Ensembl peptide - ENSP00000331902
Ensembl peptide - ENSP00000354505
Ensembl peptide - ENSP00000423520
Ensembl peptide - ENSP00000424137
NCBI entrez gene - 1287     See in Manteia.
OMIM - 303630
RefSeq - XM_017029263
RefSeq - NM_000495
RefSeq - NM_033380
RefSeq - XM_011530849
RefSeq - XM_017029259
RefSeq - XM_017029260
RefSeq - XM_017029261
RefSeq - XM_017029262
RefSeq Peptide - NP_203699
RefSeq Peptide - NP_000486
swissprot - Q49AM6
swissprot - H0Y9H0
swissprot - P29400
swissprot - H0Y998
swissprot - H0Y9R8
Ensembl - ENSG00000188153
  
Related genetic diseases (OMIM): 301050 - Alport syndrome, 301050
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
 col4a5ENSDARG00000052063Danio rerio
 COL4A5ENSGALG00000008141Gallus gallus
 Col4a5ENSMUSG00000031274Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
COL4A1 / P02462 / collagen type IV alpha 1 chainENSG0000018749861
COL4A3 / Q01955 / collagen type IV alpha 3 chainENSG0000016903154
COL4A6 / Q14031 / collagen type IV alpha 6 chainENSG0000019756549
COL4A4 / P53420 / collagen type IV alpha 4 chainENSG0000008105248
COL4A2 / P08572 / collagen type IV alpha 2 chainENSG0000013487147
Q07092 / COL16A1 / collagen type XVI alpha 1 chainENSG0000008463633
Q8NFW1 / COL22A1 / collagen type XXII alpha 1 chainENSG0000016943633
Q14993 / COL19A1 / collagen type XIX alpha 1 chainENSG0000008229325
Q96P44 / COL21A1 / collagen type XXI alpha 1 chainENSG0000012474918


Protein motifs (from Interpro)
Interpro ID Name
 IPR001442  Collagen IV, non-collagenous
 IPR008160  Collagen triple helix repeat
 IPR016133  Insect cysteine-rich antifreeze protein
 IPR016187  C-type lectin fold
 IPR036954  Collagen IV, non-collagenous domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007528 neuromuscular junction development IEA
 biological_processGO:0030198 extracellular matrix organization TAS
 biological_processGO:0030574 collagen catabolic process TAS
 biological_processGO:0038063 collagen-activated tyrosine kinase receptor signaling pathway IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005581 collagen trimer IEA
 cellular_componentGO:0005587 collagen type IV trimer TAS
 cellular_componentGO:0005604 basement membrane IEA
 cellular_componentGO:0005605 basal lamina IEA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0031594 neuromuscular junction IEA
 molecular_functionGO:0005201 extracellular matrix structural constituent IEA


Pathways (from Reactome)
Pathway description
Collagen degradation
Extracellular matrix organization
Collagen biosynthesis and modifying enzymes
Signaling by PDGF
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
Anchoring fibril formation
Crosslinking of collagen fibrils
Laminin interactions
Non-integrin membrane-ECM interactions
ECM proteoglycans
NCAM1 interactions
Collagen chain trimerization
Regulation of expression of SLITs and ROBOs


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000083 Renal failure 
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 HP:0000093 Proteinuria 
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 HP:0000100 Nephrotic syndrome 
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 HP:0000123 Nephritis "The presence of inflammation affecting the kidney." [HPO:curators]
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0000519 Congenital cataract "A congenital `cataract` (HP:0000518)." [HPO:probinson]
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 HP:0000545 Myopia 
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0000829 Hypoparathyroidism 
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 HP:0001142 Lenticonus 
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 HP:0001417 X-linked inheritance "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators]
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 HP:0001423 X-linked dominant inheritance "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators]
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 HP:0001425 Heterogeneous 
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 HP:0001873 Thrombocytopenia 
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 HP:0002907 Microscopic hematuria 
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 HP:0003676 Progressive disorder 
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 HP:0003774 End stage renal disease 
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 HP:0004722 Thickening of the glomerular basement membrane on renal biopsy 
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 HP:0006756 Diffuse leiomyomatosis 
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 HP:0008064 Ichthyosiform abnormality of the skin 
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 HP:0011501 Anterior lenticonus "A conical projection of the anterior surface of the lens, occurring as a developmental anomaly." [DDD:gblack]
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 HP:0030034 Diffuse glomerular basement membrane lamellation "Presence of abnormal additional layers of the basement membrane of the glomerulus." []
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 HP:0200020 Corneal erosions "Erosions or Abbrasions of the cornea s outermost layer of epithelial cells." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000169031 COL4A3 / Q01955 / collagen type IV alpha 3 chain  / complex / -
 ENSG00000197565 COL4A6 / Q14031 / collagen type IV alpha 6 chain  / complex / -
 ENSG00000188153 COL4A5 / P29400 / collagen type IV alpha 5 chain  / complex / -
 ENSG00000081052 COL4A4 / P53420 / collagen type IV alpha 4 chain  / complex / -
 ENSG00000187498 COL4A1 / P02462 / collagen type IV alpha 1 chain  / -
 ENSG00000134871 COL4A2 / P08572 / collagen type IV alpha 2 chain  / -






 

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