ENSMUSG00000067158


Mus musculus

Features
Gene ID: ENSMUSG00000067158
  
Biological name :Col4a4
  
Synonyms : Col4a4 / Collagen alpha-4(IV) chain / Q9QZR9
  
Possible biological names infered from orthology : collagen type IV alpha 4 chain / P53420
  
Species: Mus musculus
  
Chr. number: 1
Strand: -1
Band: C5
Gene start: 82448423
Gene end: 82586849
  
Corresponding Affymetrix probe sets: 10356088 (MoGene1.0st)   1425772_at (Mouse Genome 430 2.0 Array)   1440250_at (Mouse Genome 430 2.0 Array)   1445328_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000084282
NCBI entrez gene - 12829     See in Manteia.
MGI - MGI:104687
RefSeq - XM_011238653
RefSeq - NM_007735
RefSeq - XM_011238652
RefSeq Peptide - NP_031761
swissprot - Q9QZR9
Ensembl - ENSMUSG00000067158
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 col4a4ENSDARG00000002831Danio rerio
 ENSGALG00000004946Gallus gallus
 ENSGALG00000043175Gallus gallus
 COL4A4ENSG00000081052Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Col4a6 / collagen, type IV, alpha 6 / Q14031* / collagen type IV alpha 6 chain*ENSMUSG0000003127350
Col4a2 / P08122 / Collagen alpha-2(IV) chain Canstatin / P08572* / collagen type IV alpha 2 chain*ENSMUSG0000003150350
Col4a5 / collagen, type IV, alpha 5 / P29400* / collagen type IV alpha 5 chain*ENSMUSG0000003127448
Col4a1 / P02463 / Collagen alpha-1(IV) chain Arresten / P02462* / collagen type IV alpha 1 chain*ENSMUSG0000003150246
Col4a3 / Q9QZS0 / Collagen alpha-3(IV) chain Tumstatin / Q01955* / collagen type IV alpha 3 chain*ENSMUSG0000007946545
Q8BLX7 / Col16a1 / Collagen alpha-1(XVI) chain / Q07092* / collagen type XVI alpha 1 chain*ENSMUSG0000004069032
Col22a1 / collagen, type XXII, alpha 1 / Q8NFW1* / collagen type XXII alpha 1 chain*ENSMUSG0000007902232
Q0VF58 / Col19a1 / Collagen alpha-1(XIX) chain / Q14993* / collagen type XIX alpha 1 chain*ENSMUSG0000002614125


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:0032836 glomerular basement membrane development IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005581 collagen trimer IEA
 cellular_componentGO:0005587 collagen type IV trimer IDA
 cellular_componentGO:0005604 basement membrane IDA
 cellular_componentGO:0005605 basal lamina IEA
 molecular_functionGO:0005201 extracellular matrix structural constituent IPI


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
NCAM1 interactions
Collagen chain trimerization


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000521 abnormal kidney cortex "anomalous structure or development of the outer area of the kidney, which contains the glomerular capillaries and the capsula glomeruli that enclose it " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Rims2tm1Sse/Rims2tm1Sse
Genetic Background: B6.Cg-Rims2tm1Sse

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Rims2tm1Sse/Rims2tm1Sse
Genetic Background: B6.Cg-Rims2tm1Sse

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Atp2b2dfw-i5/Atp2b2+
Genetic Background: involves: C57BL/6J * CBA/CaJ * DBA/2J

 MP:0001859 kidney inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
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Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: NON;NZO-Col4a4bwk/J

Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: D2.NON(NZO)-Col4a4bwk/GrsrJ

Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: 129S1.NON(NZO)-Col4a4bwk/PgnJ

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Rims2tm1Sse/Rims2tm1Sse
Genetic Background: B6.Cg-Rims2tm1Sse

Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: NONcNZO4/Lt-Col4a4bwk

Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: NON;NZO-Col4a4bwk/J

Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: D2.NON(NZO)-Col4a4bwk/GrsrJ

Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: 129S1.NON(NZO)-Col4a4bwk/PgnJ

 MP:0002135 abnormal kidney morphology "abnormal development of the kidney resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Atp2b2dfw-i5/Atp2b2+
Genetic Background: involves: C57BL/6J * CBA/CaJ * DBA/2J

 MP:0002705 dilated renal tubules "enlarged lumens of the loops of Henle and/or collecting ducts of the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Rims2tm1Sse/Rims2tm1Sse
Genetic Background: B6.Cg-Rims2tm1Sse

Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: NON;NZO-Col4a4bwk/J

 MP:0002871 albuminuria "presence of excess albumin in the urine" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: NON;NZO-Col4a4bwk/J

Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: D2.NON(NZO)-Col4a4bwk/GrsrJ

Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: 129S1.NON(NZO)-Col4a4bwk/PgnJ

 MP:0002962 increased protein excretion "greater than the normal amount of serum proteins voided by the kidneys" [RGD:Rat Genome Database submission]
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Allelic Composition: Rims2tm1Sse/Rims2tm1Sse
Genetic Background: B6.Cg-Rims2tm1Sse

 MP:0002989 small kidney "reduced physical bulk one or both of the organs responsible for urine secretion" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Rims2tm1Sse/Rims2tm1Sse
Genetic Background: B6.Cg-Rims2tm1Sse

 MP:0003215 renal interstitial fibrosis "formation of fibrous tissue within the interstices of the kidney as a result of repair or a reactive process" [RGD:Rat Genome Database submission]
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Allelic Composition: Rims2tm1Sse/Rims2tm1Sse
Genetic Background: B6.Cg-Rims2tm1Sse

 MP:0003606 kidney failure "cessation of renal function" [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Rims2tm1Sse/Rims2tm1Sse
Genetic Background: B6.Cg-Rims2tm1Sse

 MP:0004740 sensorineural hearing loss "a form of progressive hearing loss due to a lesion of the auditory division of cranial nerve VIII or the inner ear" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Rims2tm1Sse/Rims2tm1Sse
Genetic Background: B6.Cg-Rims2tm1Sse

 MP:0004969 pale kidney "kidney lacks normal reddish coloration; often occurs with a bloodless or reduced vasculature condition" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rims2tm1Sse/Rims2tm1Sse
Genetic Background: B6.Cg-Rims2tm1Sse

Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: NONcNZO4/Lt-Col4a4bwk

 MP:0005161 hematuria "presence of blood in the urine" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:78193]
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Allelic Composition: Rims2tm1Sse/Rims2tm1Sse
Genetic Background: B6.Cg-Rims2tm1Sse

 MP:0005264 glomerulosclerosis "hyaline deposits or scarring within the renal glomeruli, often occurring with renal arteriosclerosis or diabetes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Rims2tm1Sse/Rims2tm1Sse
Genetic Background: B6.Cg-Rims2tm1Sse

Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: NON;NZO-Col4a4bwk/J

Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: D2.NON(NZO)-Col4a4bwk/GrsrJ

Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: 129S1.NON(NZO)-Col4a4bwk/PgnJ

 MP:0005553 increased circulating creatinine level "greater than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Rims2tm1Sse/Rims2tm1Sse
Genetic Background: B6.Cg-Rims2tm1Sse

 MP:0005565 increased blood urea nitrogen level "high circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Rims2tm1Sse/Rims2tm1Sse
Genetic Background: B6.Cg-Rims2tm1Sse

 MP:0006325 impaired hearing "reduced ability to percieve auditory stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Rims2tm1Sse/Rims2tm1Sse
Genetic Background: B6.Cg-Rims2tm1Sse

 MP:0008140 podocyte foot process effacement "thinning of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: D2.NON(NZO)-Col4a4bwk/GrsrJ

Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: 129S1.NON(NZO)-Col4a4bwk/PgnJ

 MP:0009511 distended stomach "an expansion in the volume of the sac-like structure of the digestive canal between the esophagus and the small intestine, as by stretching or distention" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Rims2tm1Sse/Rims2tm1Sse
Genetic Background: B6.Cg-Rims2tm1Sse

 MP:0009644 uremia "an excess of urea, creatinine, and other nitrogenous end products of protein and amino acid metabolism in the blood; usually indicative of kidney dysfunction" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Rims2tm1Sse/Rims2tm1Sse
Genetic Background: B6.Cg-Rims2tm1Sse

 MP:0011346 renal tubule atrophy "acquired diminution of the size of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:anna]
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Allelic Composition: Rims2tm1Sse/Rims2tm1Sse
Genetic Background: B6.Cg-Rims2tm1Sse

Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: NON;NZO-Col4a4bwk/J

Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: D2.NON(NZO)-Col4a4bwk/GrsrJ

Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: 129S1.NON(NZO)-Col4a4bwk/PgnJ

 MP:0011348 abnormal renal glomerulus basement membrane morphology "any structural anomaly of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter" [MGI:anna]
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Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: D2.NON(NZO)-Col4a4bwk/GrsrJ

Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: 129S1.NON(NZO)-Col4a4bwk/PgnJ

 MP:0011353 expanded mesangial matrix "increase in the amount of mesangial matrix present in the basement membrane surrounding the glomerular capillaries that also contain the intraglomerular mesangial cells" [MGI:csmith]
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Allelic Composition: Rims2tm1Sse/Rims2tm1Sse
Genetic Background: B6.Cg-Rims2tm1Sse

 MP:0011402 renal cast "any of the various casts formed from gelled protein precipitated in the distal convoluted tubules and collecting ducts of nephrons and molded to the tubular or duct lumen which dislodge and pass into the urine; types named for their constituent material include acellular casts (e.g. granular, hyaline, waxy, or fatty casts) and cellular casts (e.g. red or white blood cell casts)" [MGI:anna]
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Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: NON;NZO-Col4a4bwk/J

Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: D2.NON(NZO)-Col4a4bwk/GrsrJ

Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: 129S1.NON(NZO)-Col4a4bwk/PgnJ

 MP:0011405 tubulointerstitial nephritis "diffuse or local inflammation and edema of the interstitial tissue of the kidney, including the renal tubules; usually secondary to drug sensitization, systemic infection, graft rejection, or autoimmune disease" [MGI:anna]
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Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: NON;NZO-Col4a4bwk/J

 MP:0011409 increased renal glomerulus basement membrane thickness "increased width of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule" [MGI:anna]
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Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: D2.NON(NZO)-Col4a4bwk/GrsrJ

Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: 129S1.NON(NZO)-Col4a4bwk/PgnJ

 MP:0011418 leukocyturia "presence of white blood cells in the urine" [MGI:anna]
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Allelic Composition: Rims2tm1Sse/Rims2tm1Sse
Genetic Background: B6.Cg-Rims2tm1Sse

 MP:0011425 abnormal kidney interstitium morphology "any structural anomaly of the kidney region located between the nephrons, ureteric epithelia (ureteric tips, trunk and collecting duct system) and renal vasculature, and composed of renal support cells, including fibroblasts and macrophages, and mesenchymal stroma or interstitial cells; the renal vasculature lies within the renal interstitium but is not a part of it; various conditions can lead to scarring (fibrosis) and congestion of this area, which can cause kidney dysfunction and failure" [MGI:anna]
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Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: NON;NZO-Col4a4bwk/J

 MP:0011483 renal glomerular synechia "presence of adhesions (synechiae) between the Bowman s capsule and the glomerular tuft; may develop when areas of glomerular capillary basement membrane denuded of visceral epithelial cells come in contact with the parietal epithelium of Bowman s capsule" [MGI:anna]
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Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: NON;NZO-Col4a4bwk/J

 MP:0011506 glomerular crescent "formation of a crescent-shaped (semi-lunar) glomerular lesion corresponding to extracapillary proliferation of Bowman s capsular epithelium and acquiring a fibroblast-like spindled morphology, possibly stimulated by release of fibrinogen from a ruptured glomerular basement membrane; epithelial crescents occur in aggressive forms of glomerulonephritis, may be accompanied by collagen and fibrin deposition and/or monocyte and macrophage proliferation, may protrude into Bowman s space, and ultimately compress and destroy the glomerular tuft" [MGI:anna]
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Allelic Composition: Col4a4bwk/Col4a4bwk
Genetic Background: NON;NZO-Col4a4bwk/J

 MP:0011967 increased or absent threshold for auditory brainstem response "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]
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Allelic Composition: Rims2tm1Sse/Rims2tm1Sse
Genetic Background: B6.Cg-Rims2tm1Sse

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000067158 Col4a4 / Q9QZR9 / Collagen alpha-4(IV) chain / P53420* / collagen type IV alpha 4 chain*  / -
 ENSMUSG00000079465 Col4a3 / Q9QZS0 / Collagen alpha-3(IV) chain Tumstatin / Q01955* / collagen type IV alpha 3 chain*  / - / complex
 ENSMUSG00000031274 Col4a5 / collagen, type IV, alpha 5 / P29400* / collagen type IV alpha 5 chain*  / - / complex






 

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