NECTIN4 nectin cell adhesion molecule 4
Gene ID: 81607, updated on 10-Mar-2024Gene type: protein coding
Also known as: LNIR; PRR4; EDSS1; PVRL4; nectin-4
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- Go to complete Gene record for NECTIN4
- Go to Variation Viewer for NECTIN4 variants
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 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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Ectodermal dysplasia-syndactyly syndrome 1 | See labs |
Genomic context
- Location:
- 1q23.3
- Sequence:
- Chromosome: 1; NC_000001.11 (161070998..161089558, complement)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NECTIN4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- PVRL4 @ LOVD
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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