ENSG00000107186


Homo sapiens

Features
Gene ID: ENSG00000107186
  
Biological name :MPDZ
  
Synonyms : MPDZ / multiple PDZ domain crumbs cell polarity complex component / O75970
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: -1
Band: p23
Gene start: 13105704
Gene end: 13279590
  
Corresponding Affymetrix probe sets: 205079_s_at (Human Genome U133 Plus 2.0 Array)   213306_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000444717
Ensembl peptide - ENSP00000444230
Ensembl peptide - ENSP00000446298
Ensembl peptide - ENSP00000446358
Ensembl peptide - ENSP00000320006
Ensembl peptide - ENSP00000370410
Ensembl peptide - ENSP00000389705
Ensembl peptide - ENSP00000406902
Ensembl peptide - ENSP00000415208
Ensembl peptide - ENSP00000415964
Ensembl peptide - ENSP00000437651
Ensembl peptide - ENSP00000439807
Ensembl peptide - ENSP00000441111
Ensembl peptide - ENSP00000443672
Ensembl peptide - ENSP00000444151
NCBI entrez gene - 8777     See in Manteia.
OMIM - 603785
RefSeq - XM_017015258
RefSeq - NM_003829
RefSeq - XM_005251622
RefSeq - XM_005251623
RefSeq - XM_006716885
RefSeq - XM_006716886
RefSeq - XM_006716887
RefSeq - XM_006716888
RefSeq - XM_006716889
RefSeq - XM_006716891
RefSeq - XM_017015252
RefSeq - XM_017015253
RefSeq - XM_017015254
RefSeq - XM_017015255
RefSeq - XM_017015256
RefSeq - XM_017015257
RefSeq - NM_001261406
RefSeq - NM_001261407
RefSeq - NM_001330637
RefSeq Peptide - NP_001317566
RefSeq Peptide - NP_003820
RefSeq Peptide - NP_001248335
RefSeq Peptide - NP_001248336
swissprot - H0YF96
swissprot - H0YFZ6
swissprot - H0YGQ3
swissprot - B7ZB24
swissprot - H3BM19
swissprot - O75970
swissprot - A0A075B6R8
swissprot - H0YH70
swissprot - F5H1U9
swissprot - F5H8D6
swissprot - F8WDQ8
Ensembl - ENSG00000107186
  
Related genetic diseases (OMIM): 615219 - Hydrocephalus, nonsyndromic, autosomal recessive 2, 615219
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
 si:dkey-92j12.5ENSDARG00000094677Danio rerio
 MPDZENSGALG00000005846Gallus gallus
 MpdzENSMUSG00000028402Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PATJ / Q8NI35 / PATJ, crumbs cell polarity complex componentENSG0000013284938
PDZD2 / O15018 / PDZ domain containing 2ENSG0000013340116
IL16 / Q14005 / interleukin 16ENSG0000017234910
PARD3 / Q8TEW0 / par-3 family cell polarity regulatorENSG0000014849810
PARD3B / Q8TEW8 / par-3 family cell polarity regulator betaENSG000001161179
LNX1 / Q8TBB1 / ligand of numb-protein X 1ENSG000000722017
LNX2 / Q8N448 / ligand of numb-protein X 2ENSG000001395176


Protein motifs (from Interpro)
Interpro ID Name
 IPR001478  PDZ domain
 IPR004172  L27 domain
 IPR015132  L27-2
 IPR032078  Multiple PDZ domain protein
 IPR036034  PDZ superfamily
 IPR036892  L27 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0016032 viral process IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005923 bicellular tight junction IEA
 cellular_componentGO:0014069 postsynaptic density IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0016327 apicolateral plasma membrane IDA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0043220 Schmidt-Lanterman incisure IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0045211 postsynaptic membrane IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008022 protein C-terminus binding IPI


Pathways (from Reactome)
Pathway description
No match


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:0000256 Macrocephaly "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson]
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001334 Communicating hydrocephalus 
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 HP:0003577 Onset at birth 
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 HP:0009879 Cortical gyral simplification "An abnormal reduction of the number and complexity of the pattern of gyrations of the cerebral cortex." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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