NECTIN4

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]

Description

Nectin cell adhesion molecule 4

Tissue specificity

Group enriched (esophagus, salivary gland, skin , vagina)

Subcell location

Plasma membrane

Predicted location

Membrane, Secreted in other tissues

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

1 (161070998 - 161089558)

Ensembl ID

ENSG00000143217  (ver. 103.38)

Orthologs

Mouse Nectin4: ENSMUSG00000006411

UniProt

Q96NY8

neXtProt

NX_Q96NY8

Human splice variants
Mouse splice variants

Protein structure