ENSMUSG00000068036


Mus musculus

Features
Gene ID: ENSMUSG00000068036
  
Biological name :Afdn
  
Synonyms : Afadin / Afdn / Q9QZQ1
  
Possible biological names infered from orthology : afadin, adherens junction formation factor / P55196
  
Species: Mus musculus
  
Chr. number: 17
Strand: 1
Band: A1
Gene start: 13760539
Gene end: 13906150
  
Corresponding Affymetrix probe sets: 10441864 (MoGene1.0st)   1431799_at (Mouse Genome 430 2.0 Array)   1436303_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000118318
Ensembl peptide - ENSMUSP00000116711
Ensembl peptide - ENSMUSP00000119153
Ensembl peptide - ENSMUSP00000128891
Ensembl peptide - ENSMUSP00000122447
Ensembl peptide - ENSMUSP00000122204
Ensembl peptide - ENSMUSP00000114485
Ensembl peptide - ENSMUSP00000115250
NCBI entrez gene - 17356     See in Manteia.
MGI - MGI:1314653
RefSeq - XM_017317276
RefSeq - XM_006523760
RefSeq - XM_006523762
RefSeq - XM_006523763
RefSeq - XM_006523764
RefSeq - XM_006523765
RefSeq - XM_006523766
RefSeq - XM_006523767
RefSeq - XM_017317275
RefSeq - NM_010806
RefSeq - XM_006523752
RefSeq - XM_006523753
RefSeq - XM_006523754
RefSeq - XM_006523755
RefSeq - XM_006523756
RefSeq - XM_006523757
RefSeq - XM_006523758
RefSeq - XM_006523759
RefSeq Peptide - NP_034936
swissprot - E9Q852
swissprot - E9PYX7
swissprot - F7C3I9
swissprot - D3Z7L2
swissprot - D3YUD2
swissprot - E9Q9C3
swissprot - Q9QZQ1
Ensembl - ENSMUSG00000068036
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 afdnaENSDARG00000029472Danio rerio
 AFDNENSGALG00000011329Gallus gallus
 AFDNENSG00000130396Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ppp1r9a / protein phosphatase 1, regulatory (inhibitor) subunit 9A / Q9ULJ8* / protein phosphatase 1 regulatory subunit 9A*ENSMUSG0000003282712
Q6R891 / Ppp1r9b / protein phosphatase 1, regulatory subunit 9BENSMUSG000000389769
Q8K070 / Samd14 / Sterile alpha motif domain-containing protein 14 / Q8IZD0* / sterile alpha motif domain containing 14*ENSMUSG000000471814


Protein motifs (from Interpro)
Interpro ID Name
 IPR000159  Ras-associating (RA) domain
 IPR000253  Forkhead-associated (FHA) domain
 IPR001478  PDZ domain
 IPR002710  Dilute domain
 IPR008984  SMAD/FHA domain superfamily
 IPR028842  Afadin
 IPR029071  Ubiquitin-like domain superfamily
 IPR036034  PDZ superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0021537 telencephalon development IGI
 biological_processGO:0021987 cerebral cortex development IMP
 biological_processGO:0032880 regulation of protein localization IBA
 biological_processGO:0034334 adherens junction maintenance IMP
 biological_processGO:0043547 positive regulation of GTPase activity ISO
 biological_processGO:0048854 brain morphogenesis IGI
 biological_processGO:0048872 homeostasis of number of cells IGI
 biological_processGO:0060019 radial glial cell differentiation IGI
 biological_processGO:0060563 neuroepithelial cell differentiation IGI
 biological_processGO:0070445 regulation of oligodendrocyte progenitor proliferation IGI
 biological_processGO:0090557 establishment of endothelial intestinal barrier ISO
 biological_processGO:1902414 protein localization to cell junction IMP
 cellular_componentGO:0005654 nucleoplasm ISO
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005829 cytosol ISO
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0005911 cell-cell junction IEA
 cellular_componentGO:0005912 adherens junction IDA
 cellular_componentGO:0005913 cell-cell adherens junction IDA
 cellular_componentGO:0016607 nuclear speck ISO
 cellular_componentGO:0030054 cell junction ISO
 cellular_componentGO:0043296 apical junction complex IDA
 cellular_componentGO:0045177 apical part of cell IDA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0017016 Ras GTPase binding ISO
 molecular_functionGO:0045296 cadherin binding ISO
 molecular_functionGO:0050839 cell adhesion molecule binding IPI


Pathways (from Reactome)
Pathway description
Adherens junctions interactions


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000778 abnormal tract 
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Allelic Composition: Afdntm1c(EUCOMM)Hmgu/Afdntm1c(EUCOMM)Hmgu,Emx1tm1(cre)Krj/Emx1+
Genetic Background: involves: 129S2/SvPas * C57BL/6J * C57BL/6N

 MP:0000788 abnormal cerebral cortex morphology "malformed gray cellular mantle covering the surface of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Afdntm1c(EUCOMM)Hmgu/Afdntm1c(EUCOMM)Hmgu,Emx1tm1(cre)Krj/Emx1+
Genetic Background: involves: 129S2/SvPas * C57BL/6J * C57BL/6N

 MP:0000790 abnormal stratification in cerebral cortex "abnormal formation or pattern of the layers of the cerebral cortex " [J:64289, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Afdntm1c(EUCOMM)Hmgu/Afdntm1c(EUCOMM)Hmgu,Emx1tm1(cre)Krj/Emx1+
Genetic Background: involves: 129S2/SvPas * C57BL/6J * C57BL/6N

 MP:0000807 abnormal hippocampus morphology "absent or malformed deep lying structure of the cerebrum involved with memory storage and spatial navigation" [The Atlas of Mouse Development:ISBN 0-12-402035-6, MGI:Cls, J:38857]
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Allelic Composition: Afdntm1c(EUCOMM)Hmgu/Afdntm1c(EUCOMM)Hmgu,Emx1tm1(cre)Krj/Emx1+
Genetic Background: involves: 129S2/SvPas * C57BL/6J * C57BL/6N

 MP:0000932 absent notochord "missing axial fibrocellular cord in embryos around which develops the vertebral primordia" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:12622]
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Allelic Composition: Gja1tm1.1Kwi/Gja1tm4Kwi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000934 abnormal telencephalon development "malformed or incomplete differentiation of the anterior division of the embryonic prosencephalon " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:49840]
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Allelic Composition: Afdntm1c(EUCOMM)Hmgu/Afdntm1c(EUCOMM)Hmgu,Emx1tm1(cre)Krj/Emx1+
Genetic Background: involves: 129S2/SvPas * C57BL/6J * C57BL/6N

 MP:0001674 abnormal triploblastic development "abnormal development of the three primary germ layers" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator]
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Allelic Composition: Gja1tm1.1Kwi/Gja1tm4Kwi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001675 abnormal ectoderm development "failure or abnormality in the formation of the ectoderm during gastrulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gja1tm1.1Kwi/Gja1tm4Kwi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Afdntm1Ytk/Afdntm1Ytk
Genetic Background: involves: 129X1/SvJ * C57BL/6 * DBA/2

 MP:0001680 abnormal mesoderm development "failure or abnormality in the formation of the mesoderm during gastrulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gja1tm1.1Kwi/Gja1tm4Kwi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Afdntm1Ytk/Afdntm1Ytk
Genetic Background: involves: 129X1/SvJ * C57BL/6 * DBA/2

 MP:0001688 abnormal somite development "anomalous formation of any of the paired, metamerically arranged cell masses formed in the embryonic paraxial mesoderm" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Afdntm1Ytk/Afdntm1Ytk
Genetic Background: involves: 129X1/SvJ * C57BL/6 * DBA/2

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Gja1tm1.1Kwi/Gja1tm4Kwi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Afdntm1Ytk/Afdntm1Ytk
Genetic Background: involves: 129X1/SvJ * C57BL/6 * DBA/2

 MP:0001730 embryonic growth arrest "the cessation of development beyond a particular stage" [J:17509]
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Allelic Composition: Gja1tm1.1Kwi/Gja1tm4Kwi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002151 abnormal neural tube morphology/development "anomalous structure of or development of the embryonic neural tube resulting in structural anomaly" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Snx1tm1Mag/Snx1+,Snx2tm1Mag/Snx2tm1Mag
Genetic Background: Not Specified

 MP:0002912 abnormal excitatory postsynaptic potential "defect in the potential detected in postsynaptic cells when an excitatory impulse arrives at the synapse causing depolarization" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: GarsNmf249/Gars+,Tg(CAG-GARS)DRwb/0
Genetic Background: involves: C57BL/6J * CAST/Ei * FVB/N

 MP:0003077 abnormal cell cycle "failure to progress or abnormal progression through the stages of of the cell cycle" [smb:Susan M. Bello, Mouse Genome Informatics Curator, J:91266]
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Allelic Composition: Afdntm1c(EUCOMM)Hmgu/Afdntm1c(EUCOMM)Hmgu,Emx1tm1(cre)Krj/Emx1+
Genetic Background: involves: 129S2/SvPas * C57BL/6J * C57BL/6N

 MP:0003087 absent allantois "missing fetal membrane which contributes to the formation of the umbilical cord and placenta" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Gja1tm1.1Kwi/Gja1tm4Kwi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Afdntm1Ytk/Afdntm1Ytk
Genetic Background: involves: 129X1/SvJ * C57BL/6 * DBA/2

 MP:0003648 abnormal radial glial cell morphology "anomalous structure, number, or composition of the supporting cells of the developing central nervous system that guide neuronal migration during development and exchange metabolites with developing and migrating neurons; these cells differentiate into astrocytes and some neuronal types in the adult" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Afdntm1c(EUCOMM)Hmgu/Afdntm1c(EUCOMM)Hmgu,Emx1tm1(cre)Krj/Emx1+
Genetic Background: involves: 129S2/SvPas * C57BL/6J * C57BL/6N

 MP:0003885 abnormal rostro-caudal body axis extension "anomaly in or failure of the long (rostral-caudal) axis of the body to elongate normally once patterning has been established" [brs:Beverly Richards-Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Gja1tm1.1Kwi/Gja1tm4Kwi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004261 abnormal embryonic neuroepithelium morphology "any structural anomaly in the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells" [ISBN:0838580343 "Kandel ER, et al. Principles of Neural Science, 3rd edition", MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gja1tm1.1Kwi/Gja1tm4Kwi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Afdntm1c(EUCOMM)Hmgu/Afdntm1c(EUCOMM)Hmgu,Emx1tm1(cre)Krj/Emx1+
Genetic Background: involves: 129S2/SvPas * C57BL/6J * C57BL/6N

 MP:0004980 increased neuronal precursor cell number "increased number of the neuroblast embryonic cells that develop into nerve cells or neurons" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Afdntm1c(EUCOMM)Hmgu/Afdntm1c(EUCOMM)Hmgu,Emx1tm1(cre)Krj/Emx1+
Genetic Background: involves: 129S2/SvPas * C57BL/6J * C57BL/6N

 MP:0005238 increased brain size "larger than the normal physical proportions of the brain" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:57958]
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Allelic Composition: Afdntm1c(EUCOMM)Hmgu/Afdntm1c(EUCOMM)Hmgu,Emx1tm1(cre)Krj/Emx1+
Genetic Background: involves: 129S2/SvPas * C57BL/6J * C57BL/6N

 MP:0006386 absent somites "missing all somites" [MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Gja1tm1.1Kwi/Gja1tm4Kwi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008263 abnormal hippocampus CA1 region morphology 
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Allelic Composition: GarsNmf249/Gars+,Tg(CAG-GARS)DRwb/0
Genetic Background: involves: C57BL/6J * CAST/Ei * FVB/N

 MP:0008441 thin cortical plate "reduced thickness of the outer neural tube region in which post-mitotic neuroblasts migrate along radial glia to form the adult cortical layers" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:1812236]
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Allelic Composition: Afdntm1c(EUCOMM)Hmgu/Afdntm1c(EUCOMM)Hmgu,Emx1tm1(cre)Krj/Emx1+
Genetic Background: involves: 129S2/SvPas * C57BL/6J * C57BL/6N

 MP:0008458 abnormal cortical ventricular zone morphology "any structural anomaly of a transient region of the developing cerebral cortex that contains migrating neurons, radial glial cells, and a large population of cycling multipotent neural stem cells that generate newborn neurons" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Afdntm1c(EUCOMM)Hmgu/Afdntm1c(EUCOMM)Hmgu,Emx1tm1(cre)Krj/Emx1+
Genetic Background: involves: 129S2/SvPas * C57BL/6J * C57BL/6N

 MP:0008547 abnormal neocortex morphology "any structural anomaly of the larger part of the mammalian cerebral cortex, distinguished from the allocortex by being composed of a larger number of nerve cells arranged in six layers" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A08.186.211.730.885.213.420]
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Allelic Composition: Afdntm1c(EUCOMM)Hmgu/Afdntm1c(EUCOMM)Hmgu,Emx1tm1(cre)Krj/Emx1+
Genetic Background: involves: 129S2/SvPas * C57BL/6J * C57BL/6N

 MP:0009538 abnormal synapse morphology "any strucutral anomaly of the membrane junction site of a nerve cell to a target cell, such as another nerve cell, an effector cell, or a sensory receptor cell; transmission of nerve impulses may be mediated by chemical or by electrical means" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A08.850]
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Allelic Composition: Apoetm1Unc/Apoetm1Unc,Lpltm1Sem/Lpltm1Sem
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Afdntm1.1Lfr/Afdntm1.1Lfr,Neurod6tm1(cre)Kan/Neurod6+
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0009940 abnormal hippocampus pyramidal cell morphology "any structural anomaly of the projection neuron in the pyramidal layer of the hippocampus" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Afdntm1.1Lfr/Afdntm1.1Lfr,Neurod6tm1(cre)Kan/Neurod6+
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0010011 ectopic hippocampus pyramidal cells "the hippocampus pyramidal cell body resides in places other than the pyramidal cell layer of the hippocampus" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Afdntm1.1Lfr/Afdntm1.1Lfr,Neurod6tm1(cre)Kan/Neurod6+
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: Gja1tm1.1Kwi/Gja1tm4Kwi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Afdntm1Ytk/Afdntm1Ytk
Genetic Background: involves: 129X1/SvJ * C57BL/6 * DBA/2

 MP:0011199 abnormal amniotic cavity morphology "any structural anomaly of the closed space between the embryo and the amnion, containing the amniotic fluid; it is formed by the fusion of the parts of the anterior and posterior amniotic folds" [ISBN:0-12-402035-6]
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Allelic Composition: Afdntm1Ytk/Afdntm1Ytk
Genetic Background: involves: 129X1/SvJ * C57BL/6 * DBA/2

 MP:0011200 abnormal extraembryonic coelom morphology "any structural anomaly of the fluid-filled spaces formed within the mass of extraembryonic mesoderm that later fuse to become a large extraembryonic cavity" [ISBN:0-12-402035-6, ISBN-10:1405118660]
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Allelic Composition: Afdntm1Ytk/Afdntm1Ytk
Genetic Background: involves: 129X1/SvJ * C57BL/6 * DBA/2

 MP:0011388 absent heart "absence of the hollow, muscular organ that maintains the circulation of the blood" [MGI:smb]
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Allelic Composition: Afdntm1Ytk/Afdntm1Ytk
Genetic Background: involves: 129X1/SvJ * C57BL/6 * DBA/2

 MP:0011723 ectopic neuron "appearance of a neuron or group of neurons in a region where it is not normally found" [MGI:csmith]
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Allelic Composition: Afdntm1c(EUCOMM)Hmgu/Afdntm1c(EUCOMM)Hmgu,Emx1tm1(cre)Krj/Emx1+
Genetic Background: involves: 129S2/SvPas * C57BL/6J * C57BL/6N

 MP:0012165 absent neural folds "absence of the elevated margins of the neural groove" [MGI:csmith]
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Allelic Composition: Gja1tm1.1Kwi/Gja1tm4Kwi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0020067 increased neocortex size "greater than average size of the neocortex" [GOC:NV]
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Allelic Composition: Afdntm1c(EUCOMM)Hmgu/Afdntm1c(EUCOMM)Hmgu,Emx1tm1(cre)Krj/Emx1+
Genetic Background: involves: 129S2/SvPas * C57BL/6J * C57BL/6N

 MP:0020389 increased radial glial cell number "increase in the number of the supporting cells of the developing central nervous system that guide neuronal migration during development and exchange metabolites with developing and migrating neurons; these cells differentiate into astrocytes and some neuronal types in the adult" [MGI:anna, PMID:25100583]
Show

Allelic Composition: Afdntm1c(EUCOMM)Hmgu/Afdntm1c(EUCOMM)Hmgu,Emx1tm1(cre)Krj/Emx1+
Genetic Background: involves: 129S2/SvPas * C57BL/6J * C57BL/6N

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000022656 Q9JLB9 / Nectin3 / Q9NQS3* / nectin cell adhesion molecule 3*  / reaction / complex
 ENSMUSG00000006411 Q8R007 / Nectin4 / Q96NY8* / nectin cell adhesion molecule 4*  / reaction / complex
 ENSMUSG00000032012 Q9JKF6 / Nectin1 / Q15223* / nectin cell adhesion molecule 1*  / reaction / complex
 ENSMUSG00000062300 P32507 / Nectin2 / Q92692* / nectin cell adhesion molecule 2*  / reaction / complex






 

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