ENSG00000143217


Homo sapiens

Features
Gene ID: ENSG00000143217
  
Biological name :NECTIN4
  
Synonyms : NECTIN4 / nectin cell adhesion molecule 4 / Q96NY8
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: q23.3
Gene start: 161070995
Gene end: 161089599
  
Corresponding Affymetrix probe sets: 223540_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000356991
NCBI entrez gene - 81607     See in Manteia.
OMIM - 609607
RefSeq - XM_011510023
RefSeq - NM_030916
RefSeq - XM_005245508
RefSeq - XM_011510021
RefSeq - XM_011510022
RefSeq Peptide - NP_112178
swissprot - Q96NY8
swissprot - K4PZ75
Ensembl - ENSG00000143217
  
Related genetic diseases (OMIM): 613573 - Ectodermal dysplasia-syndactyly syndrome 1, 613573
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
 nectin4ENSDARG00000103148Danio rerio
 si:ch211-119e14.9ENSDARG00000077419Danio rerio
 Q8R007ENSMUSG00000006411Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9NQS3 / NECTIN3 / nectin cell adhesion molecule 3ENSG0000017770727
Q92692 / NECTIN2 / nectin cell adhesion molecule 2ENSG0000013020225
Q15223 / NECTIN1 / nectin cell adhesion molecule 1ENSG0000011040022
PVR / P15151 / poliovirus receptorENSG0000007300821
CADM3 / Q8N126 / cell adhesion molecule 3ENSG0000016270617
CADM1 / Q9BY67 / cell adhesion molecule 1ENSG0000018298517
CADM4 / Q8NFZ8 / cell adhesion molecule 4ENSG0000010576717
CADM2 / Q8N3J6 / cell adhesion molecule 2ENSG0000017516115
CRTAM / O95727 / cytotoxic and regulatory T cell moleculeENSG0000010994311


Protein motifs (from Interpro)
Interpro ID Name
 IPR003598  Immunoglobulin subtype 2
 IPR003599  Immunoglobulin subtype
 IPR007110  Immunoglobulin-like domain
 IPR013106  Immunoglobulin V-set domain
 IPR013162  CD80-like, immunoglobulin C2-set
 IPR013783  Immunoglobulin-like fold
 IPR033320  Nectin-4
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IBA
 biological_processGO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules IBA
 biological_processGO:0008037 cell recognition IBA
 biological_processGO:0016032 viral process IEA
 biological_processGO:0034332 adherens junction organization TAS
 biological_processGO:0046718 viral entry into host cell IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IBA
 cellular_componentGO:0005912 adherens junction IEA
 cellular_componentGO:0005913 cell-cell adherens junction IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0001618 virus receptor activity IEA
 molecular_functionGO:0005102 signaling receptor binding IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IBA
 molecular_functionGO:0050839 cell adhesion molecule binding IBA


Pathways (from Reactome)
Pathway description
Adherens junctions interactions
Nectin/Necl trans heterodimerization


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:0000535 Sparse eyebrows 
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 HP:0000653 Sparse eyelashes "Decreased density/number of eyelashes." [pmid:19125427]
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 HP:0000687 Widely spaced teeth 
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 HP:0000698 Conical teeth 
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 HP:0000968 Ectodermal dysplasia 
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 HP:0001800 Hypoplastic toenails "Underdeveloped toenails." [HPO:curators]
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 HP:0002046 Intolerance to heat and fever 
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 HP:0002208 Coarse hair 
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 HP:0002209 Sparse scalp hair "Sparseness of the `head hair` (FMA:54241)." [HPO:probinson]
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 HP:0002232 Patchy alopecia 
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 HP:0002550 Absent facial hair 
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 HP:0003777 Pili torti "Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope." [HPO:curators]
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 HP:0005709 Cutaneous syndactyly of fingers 3 and 4 and toes 2 and 3 
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 HP:0006297 Hypoplastic dental enamel 
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 HP:0010554 Cutaneous syndactyly of the fingers "Webbing or fusion of the fingers involving soft parts only." [HPO:curators]
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 HP:0010765 Palmar hyperkeratosis "`Hyperkeratosis` (HP:0000962) affecting the palm of the hand." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000110400 Q15223 / NECTIN1 / nectin cell adhesion molecule 1  / reaction / complex
 ENSG00000177707 Q9NQS3 / NECTIN3 / nectin cell adhesion molecule 3  / reaction / complex
 ENSG00000130396 AFDN / P55196 / afadin, adherens junction formation factor  / complex / reaction
 ENSG00000130202 Q92692 / NECTIN2 / nectin cell adhesion molecule 2  / complex / reaction
 ENSG00000143217 Q96NY8 / NECTIN4 / nectin cell adhesion molecule 4  / reaction / complex






 

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