Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 81607
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol NECTIN4   Gene   UCSC   Ensembl
Aliases EDSS1, LNIR, PRR4, PVRL4, nectin-4
Gene name nectin cell adhesion molecule 4
Alternate names nectin-4, Ig superfamily receptor LNIR, nectin 4, poliovirus receptor-related 4, poliovirus receptor-related protein 4,
Gene location 1q23.3 (161089594: 161070990)     Exons: 9     NC_000001.11
Gene summary(Entrez) 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 single-pass type I membrane protein. The soluble form is produced by proteolytic cleavage at the cell surface by the metalloproteinase ADAM17/TACE. The secreted form is found in both breast tumor cell lines and breast tumor patients. Mutations in this gene are the cause of ectodermal dysplasia-syndactyly syndrome type 1, an autosomal recessive disorder. Alternatively spliced transcript variants have been found but the full-length nature of the variant has not been determined.[provided by RefSeq, Jan 2011]
OMIM 609607

Protein Summary

Protein general information Q96NY8  

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]

Length: 510  Mass: 55,454

Tissue specificity: Predominantly expressed in placenta. Not detected in normal breast epithelium but expressed in breast carcinoma. {ECO

Sequence MPLSLGAEMWGPEAWLLLLLLLASFTGRCPAGELETSDVVTVVLGQDAKLPCFYRGDSGEQVGQVAWARVDAGEG
AQELALLHSKYGLHVSPAYEGRVEQPPPPRNPLDGSVLLRNAVQADEGEYECRVSTFPAGSFQARLRLRVLVPPL
PSLNPGPALEEGQGLTLAASCTAEGSPAPSVTWDTEVKGTTSSRSFKHSRSAAVTSEFHLVPSRSMNGQPLTCVV
SHPGLLQDQRITHILHVSFLAEASVRGLEDQNLWHIGREGAMLKCLSEGQPPPSYNWTRLDGPLPSGVRVDGDTL
GFPPLTTEHSGIYVCHVSNEFSSRDSQVTVDVLDPQEDSGKQVDLVSASVVVVGVIAALLFCLLVVVVVLMSRYH
RRKAQQMTQKYEEELTLTRENSIRRLHSHHTDPRSQPEESVGLRAEGHPDSLKDNSSCSVMSEEPEGRSYSTLTT
VREIETQTELLSPGSGRAEEEEDQDEGIKQAMNHFVQENGTLRAKPTGNGIYINGRGHLV
Structural information
Protein Domains
Ig-like (32-144)
Ig-like (148-237)
Ig-like (248-331)
Interpro:  IPR013162 IPR007110 IPR013783 IPR003599 IPR003598 IPR013106 IPR033320
Prosite:   PS50835

Pfam:  
PF08205 PF07686

PDB:  
4FRW 4GJT 4JJH
PDBsum:   4FRW 4GJT 4JJH

DIP:  
41492
MINT:   237395
STRING:   ENSP00000356991;
Other Databases GeneCards:  NECTIN4;  Malacards:  NECTIN4

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001618 virus receptor activity
IEA molecular_function
GO:0004872 receptor activity
IBA molecular_function
GO:0005102 receptor binding
IBA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
IBA cellular_component
GO:0005913 cell-cell adherens juncti
on
IBA cellular_component
GO:0007156 homophilic cell adhesion
via plasma membrane adhes
ion molecules
IBA biological_process
GO:0007157 heterophilic cell-cell ad
hesion via plasma membran
e cell adhesion molecules
IBA biological_process
GO:0008037 cell recognition
IBA biological_process
GO:0034332 adherens junction organiz
ation
TAS biological_process
GO:0042803 protein homodimerization
activity
IBA molecular_function
GO:0046718 viral entry into host cel
l
IEA biological_process
GO:0050839 cell adhesion molecule bi
nding
IBA molecular_function
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0001618 virus receptor activity
IEA molecular_function
GO:0004872 receptor activity
IBA molecular_function
GO:0005102 receptor binding
IBA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
IBA cellular_component
GO:0005912 adherens junction
IEA cellular_component
GO:0005913 cell-cell adherens juncti
on
IBA cellular_component
GO:0007155 cell adhesion
IEA biological_process
GO:0007155 cell adhesion
IEA biological_process
GO:0007156 homophilic cell adhesion
via plasma membrane adhes
ion molecules
IBA biological_process
GO:0007157 heterophilic cell-cell ad
hesion via plasma membran
e cell adhesion molecules
IBA biological_process
GO:0008037 cell recognition
IBA biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016032 viral process
IEA biological_process
GO:0030054 cell junction
IEA cellular_component
GO:0034332 adherens junction organiz
ation
TAS biological_process
GO:0042803 protein homodimerization
activity
IBA molecular_function
GO:0046718 viral entry into host cel
l
IEA biological_process
GO:0050839 cell adhesion molecule bi
nding
IBA molecular_function
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0004872 receptor activity
IBA molecular_function
GO:0005102 receptor binding
IBA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
IBA cellular_component
GO:0005913 cell-cell adherens juncti
on
IBA cellular_component
GO:0007156 homophilic cell adhesion
via plasma membrane adhes
ion molecules
IBA biological_process
GO:0007157 heterophilic cell-cell ad
hesion via plasma membran
e cell adhesion molecules
IBA biological_process
GO:0008037 cell recognition
IBA biological_process
GO:0034332 adherens junction organiz
ation
TAS biological_process
GO:0042803 protein homodimerization
activity
IBA molecular_function
GO:0050839 cell adhesion molecule bi
nding
IBA molecular_function
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component

KEGG pathways

hsa04520  Adherens junction

Diseases

Associated diseases References
Ectodermal dysplasia syndactyly syndrome KEGG: H00647
Endometriosis PMID: 27328518
Endometriosis INFBASE27328518

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
22926846 Endometrio
sis

75 (55 women un
dergoing endome
trial biopsy or
surgery for en
dometriosis (20
proliferative
endometrium fro
m women with en
dometriosis, pr
oliferative end
ometrium from w
omen without en
dometriosis, 20
peritoneal end
ometriosis, 20
ovarian endomet
riosis, 20 colo
Nectin-1
-3
-4 and Necl-2
Show abstract
27328518 Endometrio
sis

80 (20 women wi
th ovarian endo
metriosis, 20 w
omen with perit
oneal endometri
osis, 20 women
with endometriu
m of endometrio
sis, 20 women i
n a control gro
up (having no e
ndometriosis))

Show abstract