ENSG00000112769


Homo sapiens

Features
Gene ID: ENSG00000112769
  
Biological name :LAMA4
  
Synonyms : LAMA4 / laminin subunit alpha 4 / Q16363
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: q21
Gene start: 112108760
Gene end: 112254939
  
Corresponding Affymetrix probe sets: 202202_s_at (Human Genome U133 Plus 2.0 Array)   210089_s_at (Human Genome U133 Plus 2.0 Array)   210989_at (Human Genome U133 Plus 2.0 Array)   210990_s_at (Human Genome U133 Plus 2.0 Array)   216081_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000412136
Ensembl peptide - ENSP00000430415
Ensembl peptide - ENSP00000430336
Ensembl peptide - ENSP00000429488
Ensembl peptide - ENSP00000428583
Ensembl peptide - ENSP00000427865
Ensembl peptide - ENSP00000427837
Ensembl peptide - ENSP00000416470
Ensembl peptide - ENSP00000230538
Ensembl peptide - ENSP00000243219
Ensembl peptide - ENSP00000357627
Ensembl peptide - ENSP00000357629
Ensembl peptide - ENSP00000374114
Ensembl peptide - ENSP00000398226
Ensembl peptide - ENSP00000408604
NCBI entrez gene - 3910     See in Manteia.
OMIM - 600133
RefSeq - XM_017010854
RefSeq - NM_001105206
RefSeq - NM_001105207
RefSeq - NM_001105208
RefSeq - NM_001105209
RefSeq - NM_002290
RefSeq - XM_005266983
RefSeq - XM_005266984
RefSeq Peptide - NP_001098676
RefSeq Peptide - NP_001098677
RefSeq Peptide - NP_001098678
RefSeq Peptide - NP_002281
RefSeq Peptide - NP_001098679
swissprot - E5RFD7
swissprot - A0A0A0MTC7
swissprot - A0A0A0MQS9
swissprot - E5RHF3
swissprot - H0Y351
swissprot - H0YAQ5
swissprot - H0YAP9
swissprot - Q16363
swissprot - Q6LET9
swissprot - E5RK79
swissprot - E5RFQ2
Ensembl - ENSG00000112769
  
Related genetic diseases (OMIM): 615235 - Cardiomyopathy, dilated, 1JJ, 615235
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
 lama4ENSDARG00000020785Danio rerio
 ENSGALG00000015001Gallus gallus
 Lama4ENSMUSG00000019846Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
LAMA3 / Q16787 / laminin subunit alpha 3ENSG0000005374728
LAMA5 / O15230 / laminin subunit alpha 5ENSG0000013070227
LAMA2 / P24043 / laminin subunit alpha 2ENSG0000019656922
LAMA1 / P25391 / laminin subunit alpha 1ENSG0000010168021
LAMB1 / P07942 / laminin subunit beta 1ENSG0000009113611
LAMB2 / P55268 / laminin subunit beta 2ENSG0000017203710
LAMC1 / P11047 / laminin subunit gamma 1ENSG000001358629
LAMC3 / Q9Y6N6 / laminin subunit gamma 3ENSG000000505559
LAMC2 / Q13753 / laminin subunit gamma 2ENSG000000580858
LAMB4 / A4D0S4 / laminin subunit beta 4ENSG000000911288
LAMB3 / Q13751 / laminin subunit beta 3ENSG000001968786
NTN4 / Q9HB63 / netrin 4ENSG000000745273


Protein motifs (from Interpro)
Interpro ID Name
 IPR000742  EGF-like domain
 IPR001791  Laminin G domain
 IPR002049  Laminin EGF domain
 IPR009030  Growth factor receptor cysteine-rich domain superfamily
 IPR009254  Laminin alpha, domain I
 IPR010307  Laminin domain II
 IPR013320  Concanavalin A-like lectin/glucanase domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001568 blood vessel development IEA
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0030155 regulation of cell adhesion IEA
 biological_processGO:0030198 extracellular matrix organization TAS
 biological_processGO:0030334 regulation of cell migration IEA
 biological_processGO:0045995 regulation of embryonic development IEA
 biological_processGO:0050873 brown fat cell differentiation IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005604 basement membrane IEA
 cellular_componentGO:0005605 basal lamina IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0031012 extracellular matrix ISS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005102 signaling receptor binding IEA
 molecular_functionGO:0005201 extracellular matrix structural constituent TAS
 molecular_functionGO:0005515 protein binding IPI


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


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]
Show

 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
Show

 HP:0000982 Palmoplantar keratoderma 
Show

 HP:0001644 Dilated cardiomyopathy 
Show

 HP:0001874 Abnormality of neutrophil 
Show

 HP:0003198 Myopathy 
Show

 HP:0003236 Elevated serum creatine phosphokinase 
Show

 HP:0003457 Abnormal EMG findings "Abnormal results of investigations using electromyography (EMG)." [HPO:curators]
Show

 HP:0100578 Lipoatrophy "Localized loss of fat tissue." [HPO:sdoelken]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000050555 LAMC3 / Q9Y6N6 / laminin subunit gamma 3  / complex
 ENSG00000091136 LAMB1 / P07942 / laminin subunit beta 1  / complex
 ENSG00000172037 LAMB2 / P55268 / laminin subunit beta 2  / complex
 ENSG00000135862 LAMC1 / P11047 / laminin subunit gamma 1  / complex






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr