ENSG00000050555


Homo sapiens

Features
Gene ID: ENSG00000050555
  
Biological name :LAMC3
  
Synonyms : LAMC3 / laminin subunit gamma 3 / Q9Y6N6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: 1
Band: q34.12
Gene start: 131009082
Gene end: 131094473
  
Corresponding Affymetrix probe sets: 219407_s_at (Human Genome U133 Plus 2.0 Array)   232558_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000347627
Ensembl peptide - ENSP00000354360
NCBI entrez gene - 10319     See in Manteia.
OMIM - 604349
RefSeq - XM_011518121
RefSeq - NM_006059
RefSeq - XM_006716921
RefSeq Peptide - NP_006050
swissprot - Q9Y6N6
swissprot - H7BY04
Ensembl - ENSG00000050555
  
Related genetic diseases (OMIM): 614115 - Cortical malformations, occipital, 614115
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
 lamc3ENSDARG00000093572Danio rerio
 Lamc3ENSMUSG00000026840Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
LAMC1 / P11047 / laminin subunit gamma 1ENSG0000013586244
LAMA5 / O15230 / laminin subunit alpha 5ENSG0000013070230
LAMC2 / Q13753 / laminin subunit gamma 2ENSG0000005808525
LAMA3 / Q16787 / laminin subunit alpha 3ENSG0000005374723
LAMA2 / P24043 / laminin subunit alpha 2ENSG0000019656923
LAMA1 / P25391 / laminin subunit alpha 1ENSG0000010168022
LAMB2 / P55268 / laminin subunit beta 2ENSG0000017203720
LAMB1 / P07942 / laminin subunit beta 1ENSG0000009113619
LAMB4 / A4D0S4 / laminin subunit beta 4ENSG0000009112818
LAMB3 / Q13751 / laminin subunit beta 3ENSG0000019687814
LAMA4 / Q16363 / laminin subunit alpha 4ENSG0000011276910
NTN4 / Q9HB63 / netrin 4ENSG000000745279


Protein motifs (from Interpro)
Interpro ID Name
 IPR000034  Laminin IV
 IPR000742  EGF-like domain
 IPR002049  Laminin EGF domain
 IPR008211  Laminin, N-terminal
 IPR008979  Galactose-binding-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000904 cell morphogenesis involved in differentiation IEA
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0014002 astrocyte development IEA
 biological_processGO:0030198 extracellular matrix organization TAS
 biological_processGO:0060041 retina development in camera-type eye IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005604 basement membrane IEA
 cellular_componentGO:0016020 membrane TAS
 molecular_functionGO:0005198 structural molecule activity TAS


Pathways (from Reactome)
Pathway description
Laminin interactions
Non-integrin membrane-ECM interactions
MET activates PTK2 signaling


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:0000572 Visual loss 
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0002069 Generalized tonic-clonic seizures "Generalized tonic-clonic seizures are `generalized seizures` (HP:0002197) in which the patient suddenly loses conciousness, the eyes roll back, and the entire body musculature undergoes tonic contractions. In the clonic phase of the seizure, there are rhythmic contractions of the musculature alternating with relaxation of all muscle groups. Loss of sphincter control during the seizure is common. This form of seizure was formerly commonly called grand mal seizure." [HPO:curators]
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 HP:0002353 EEG abnormalities "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain s spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000091136 LAMB1 / P07942 / laminin subunit beta 1  / complex
 ENSG00000112769 LAMA4 / Q16363 / laminin subunit alpha 4  / complex
 ENSG00000172037 LAMB2 / P55268 / laminin subunit beta 2  / complex
 ENSG00000196569 LAMA2 / P24043 / laminin subunit alpha 2  / complex






 

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