ENSG00000038427


Homo sapiens

Features
Gene ID: ENSG00000038427
  
Biological name :VCAN
  
Synonyms : P13611 / VCAN / versican
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: 1
Band: q14.2
Gene start: 83471465
Gene end: 83582303
  
Corresponding Affymetrix probe sets: 204619_s_at (Human Genome U133 Plus 2.0 Array)   204620_s_at (Human Genome U133 Plus 2.0 Array)   211571_s_at (Human Genome U133 Plus 2.0 Array)   215646_s_at (Human Genome U133 Plus 2.0 Array)   221731_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000265077
Ensembl peptide - ENSP00000340062
Ensembl peptide - ENSP00000426715
Ensembl peptide - ENSP00000426251
Ensembl peptide - ENSP00000425959
Ensembl peptide - ENSP00000421362
Ensembl peptide - ENSP00000342768
NCBI entrez gene - 1462     See in Manteia.
OMIM - 118661
RefSeq - NM_004385
RefSeq - NM_001126336
RefSeq - NM_001164097
RefSeq - NM_001164098
RefSeq Peptide - NP_004376
RefSeq Peptide - NP_001119808
RefSeq Peptide - NP_001157569
RefSeq Peptide - NP_001157570
swissprot - Q86W61
swissprot - D6RGZ6
swissprot - A0A024RAQ9
swissprot - A0A024RAP3
swissprot - A0A024RAL1
swissprot - P13611
swissprot - E9PF17
Ensembl - ENSG00000038427
  
Related genetic diseases (OMIM): 143200 - Wagner syndrome 1, 143200
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
 vcanaENSDARG00000103515Danio rerio
 vcanbENSDARG00000009401Danio rerio
 VCANENSGALG00000015624Gallus gallus
 VcanENSMUSG00000021614Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ACAN / aggrecanENSG0000015776618
NCAN / O14594 / neurocanENSG0000013028713
BCAN / Q96GW7 / brevicanENSG0000013269210
STAB2 / Q8WWQ8 / stabilin 2ENSG000001360118
STAB1 / Q9NY15 / stabilin 1ENSG000000103277
HAPLN1 / P10915 / hyaluronan and proteoglycan link protein 1ENSG000001456814
HAPLN4 / Q86UW8 / hyaluronan and proteoglycan link protein 4ENSG000001876644
HAPLN3 / Q96S86 / hyaluronan and proteoglycan link protein 3ENSG000001405114
HAPLN2 / Q9GZV7 / hyaluronan and proteoglycan link protein 2ENSG000001327023
P98066 / TNFAIP6 / TNF alpha induced protein 6ENSG000001236102


Protein motifs (from Interpro)
Interpro ID Name
 IPR000152  EGF-type aspartate/asparagine hydroxylation site
 IPR000436  Sushi/SCR/CCP domain
 IPR000538  Link domain
 IPR000742  EGF-like domain
 IPR001304  C-type lectin-like
 IPR001881  EGF-like calcium-binding domain
 IPR003599  Immunoglobulin subtype
 IPR007110  Immunoglobulin-like domain
 IPR013032  EGF-like, conserved site
 IPR013106  Immunoglobulin V-set domain
 IPR013783  Immunoglobulin-like fold
 IPR016186  C-type lectin-like/link domain superfamily
 IPR016187  C-type lectin fold
 IPR018097  EGF-like calcium-binding, conserved site
 IPR018378  C-type lectin, conserved site
 IPR033987  Aggrecan/versican, C-type lectin-like domain
 IPR035976  Sushi/SCR/CCP superfamily
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001501 skeletal system development IBA
 biological_processGO:0001649 osteoblast differentiation HDA
 biological_processGO:0007155 cell adhesion TAS
 biological_processGO:0007275 multicellular organism development TAS
 biological_processGO:0007417 central nervous system development IBA
 biological_processGO:0008037 cell recognition TAS
 biological_processGO:0030198 extracellular matrix organization TAS
 biological_processGO:0030203 glycosaminoglycan metabolic process TAS
 biological_processGO:0030206 chondroitin sulfate biosynthetic process TAS
 biological_processGO:0030207 chondroitin sulfate catabolic process TAS
 biological_processGO:0030208 dermatan sulfate biosynthetic process TAS
 biological_processGO:0043687 post-translational protein modification TAS
 biological_processGO:0044267 cellular protein metabolic process TAS
 cellular_componentGO:0005576 extracellular region IDA
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0005796 Golgi lumen TAS
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0031012 extracellular matrix ISS
 cellular_componentGO:0043202 lysosomal lumen TAS
 molecular_functionGO:0005201 extracellular matrix structural constituent IBA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005539 glycosaminoglycan binding TAS
 molecular_functionGO:0005540 hyaluronic acid binding TAS
 molecular_functionGO:0030246 carbohydrate binding IEA


Pathways (from Reactome)
Pathway description
A tetrasaccharide linker sequence is required for GAG synthesis
Chondroitin sulfate biosynthesis
Dermatan sulfate biosynthesis
CS/DS degradation
ECM proteoglycans
Defective B4GALT7 causes EDS, progeroid type
Defective B3GAT3 causes JDSSDHD
Defective CHST3 causes SEDCJD
Defective CHST14 causes EDS, musculocontractural type
Defective CHSY1 causes TPBS
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Defective B3GALT6 causes EDSP2 and SEMDJL1
Post-translational protein phosphorylation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000501 Glaucoma "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [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:0000533 Chorioretinal atrophy 
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 HP:0000545 Myopia 
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 HP:0000572 Visual loss 
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 HP:0000648 Optic atrophy 
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 HP:0000655 Vitreoretinal degeneration 
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 HP:0001123 Visual field defects 
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 HP:0007643 Peripheral traction retinal detachment 
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 HP:0007722 Loss of retinal pigment epithelium 
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 HP:0030490 Exudative vitreoretinopathy 
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 HP:0030663 Optically empty vitreous "Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity." [PMID:15557460, PMID:7867814]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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