Gene Gene information from NCBI Gene database.
Entrez ID 81607
Gene name Nectin cell adhesion molecule 4
Gene symbol NECTIN4
Synonyms (NCBI Gene)
EDSS1LNIRPRR4PVRL4nectin-4
Chromosome 1
Chromosome location 1q23.3
Summary 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.
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.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609607 19688 ENSG00000143217
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
DEGEYECRVSTFPAGSFQARLRLRVL
VPPLPSLNPGPALEEGQGLTLAASCTAEGSPAPS
VTWDTEVKGTTSSRSFKHSRSAAVTSEFHLVPSRSMNGQPLTCVVSHPGLLQDQ
RITHIL
HVSFLAEASVRGLEDQNLWHIGREGAMLKCLSEGQPPPSYNWTRLDGPLPSGVRVDGDTL
GFPPLTTEHSGIYVCHVSN
EFSSRDSQVTVDVLDPQEDSGKQVDLVSASVVVVGVIAALL
FCLLVVVVVLMSRYHRRKAQQMTQKYEEELTLTRENSIRRLHSHHTDPRSQPEESVGLRA
EGHPDSLKDNSSCSVMSEEPEGRSYSTLTTVREIETQTELLSPGSGRAEEEEDQDEGIKQ
AMNHFVQENGTLRAKPTGNGIYINGRGHLV
Sequence length 510
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Ectodermal dysplasia-syndactyly syndrome 1 Pathogenic rs267606991, rs267606992, rs730880260, rs387907014, rs1085307124, rs1085307125, rs1571153052, rs1653335301 RCV000001667
RCV000001668
RCV000001669
RCV000023779
RCV000488417
View all (3 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cervical cancer Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 19679554, 24892636
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 28634245
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 15784625, 22717740, 23682311, 27507538, 27998973, 28232483, 28250131, 28600142, 30056265, 31572728
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 17474988, 21526486, 24386110, 31617074, 35614462, 38063270 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Adenoid Cystic Adenoid cystic carcinoma Pubtator 37480387 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Ductal Breast Ductal carcinoma of breast Pubtator 17474988 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 28634245
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 19679554, 20338946, 31440821
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 38043528 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 37344281, 38003302 Associate
★☆☆☆☆
Found in Text Mining only