NECTIN4 (nectin cell adhesion molecule 4)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
81607
Gene name Gene Name - the full gene name approved by the HGNC.
Nectin cell adhesion molecule 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NECTIN4
Synonyms (NCBI Gene) Gene synonyms aliases
EDSS1, LNIR, PRR4, PVRL4, nectin-4
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the nectin family. The encoded protein contains two immunoglobulin-like (Ig-like) C2-type domains and one Ig-like V-type domain. It is involved in cell adhesion through trans-homophilic and -heterophilic interactions. It is a
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(8)
SNP ID Visualize variation Clinical significance Consequence
rs1537044 G>A,C Conflicting-interpretations-of-pathogenicity, not-provided 3 prime UTR variant, coding sequence variant, missense variant
rs267606991 C>T Pathogenic Missense variant, coding sequence variant
rs267606992 G>A Pathogenic Missense variant, coding sequence variant
rs387907014 G>C Pathogenic Coding sequence variant, missense variant
rs730880260 A>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(43)
miRTarBase ID miRNA Experiments Reference
MIRT614826 hsa-miR-590-3p HITS-CLIP 23824327
MIRT614825 hsa-miR-6515-3p HITS-CLIP 23824327
MIRT614824 hsa-miR-1236-3p HITS-CLIP 23824327
MIRT614823 hsa-miR-302b-5p HITS-CLIP 23824327
MIRT614822 hsa-miR-302d-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(25)
GO ID Ontology Definition Evidence Reference
GO:0001618 Function Virus receptor activity IEA
GO:0005515 Function Protein binding IPI 21982860, 22048310, 22902367, 23202587, 28514442, 32296183, 33961781
GO:0005576 Component Extracellular region IEA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IC 32503945
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609607 19688 ENSG00000143217
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q96NY8
Protein name Nectin-4 (Ig superfamily receptor LNIR) (Nectin cell adhesion molecule 4) (Poliovirus receptor-related protein 4) [Cleaved into: Processed poliovirus receptor-related protein 4]
Protein function Seems to be involved in cell adhesion through trans-homophilic and -heterophilic interactions, the latter including specifically interactions with NECTIN1. Does not act as receptor for alpha-herpesvirus entry into cells.; (Microbial in
PDB 4FRW , 4GJT , 4JJH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set 35 → 146 Immunoglobulin V-set domain Domain
PF08205 C2-set_2 151 → 234 CD80-like C2-set immunoglobulin domain Domain
PF13927 Ig_3 256 → 319 Domain
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in placenta. Not detected in normal breast epithelium but expressed in breast carcinoma. {ECO:0000269|PubMed:11544254, ECO:0000269|PubMed:17474988}.
Sequence 
MPLSLGAEMWGPEAWLLLLLLLASFTGRCPAGELETSDVVTVVLGQDAKLPCFYRGDSGE
QVGQVAWARVDAGEGAQELALLHSKYGLHVSPAYEGRVEQPPPPRNPLDGSVLLRNAVQA
DEGEYECRVSTFPAGSFQARLRLRVLVPPLPSLNPGPALEEGQGLTLAASCTAEGSPAPS
VTWDTEVKGTTSSRSFKHSRSAAVTSEFHLVPSRSMNGQPLTCVVSHPGLLQDQRITHIL
HVSFLAEASVRGLEDQNLWHIGREGAMLKCLSEGQPPPSYNWTRLDGPLPSGVRVDGDTL
GFPPLTTEHSGIYVCHVSNEFSSRDSQVTVDVLDPQEDSGKQVDLVSASVVVVGVIAALL
FCLLVVVVVLMSRYHRRKAQQMTQKYEEELTLTRENSIRRLHSHHTDPRSQPEESVGLRA
EGHPDSLKDNSSCSVMSEEPEGRSYSTLTTVREIETQTELLSPGSGRAEEEEDQDEGIKQ
AMNHFVQENGTLRAKPTGNGIYINGRGHLV
Sequence length 510
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Virion - Ebolavirus, Lyssavirus and Morbillivirus
Adherens junction 		  Adherens junctions interactions
Nectin/Necl trans heterodimerization
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Ectodermal Dysplasia Syndactyly Syndrome ectodermal dysplasia-syndactyly syndrome 1 rs1571153052, rs267606991, rs267606992, rs730880260, rs387907014, rs1085307124, rs1085307125 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Ectodermal dysplasia skin fragility syndrome ectodermal dysplasia-syndactyly syndrome N/A N/A GenCC
Show/Hide Text Mining Associations (55)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acrocephalosyndactylia Associate 35274723
Breast Neoplasms Associate 17474988, 21526486, 24386110, 31617074, 35614462, 38063270
Calcinosis Cutis Inhibit 24386110
Calcinosis Cutis Associate 36749325, 37344281
Carcinoma Adenoid Cystic Associate 37480387
Carcinoma Ductal Breast Associate 17474988
Carcinoma Renal Cell Associate 38043528
Carcinoma Squamous Cell Associate 37344281, 38003302
Clear cell metastatic renal cell carcinoma Associate 37344281
Cleft Lip Associate 37829154