NECTIN4 Chromosome 1
Nectin cell adhesion molecule 4
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What This Gene Does
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]
Gene Info
Gene Group
"V-set domain containing|C2-set domain containing|Nectins and nectin-like molecules"
Locus Type
gene with protein product
Location
1q23.3
Ensembl
ENSG00000143217
Associated Conditions (2)
Ectodermal dysplasia-syndactyly syndrome 1
NECTIN4-related disorder
Key Variants
RS1537044
Conflicting classifications of pathogenicity
Ectodermal dysplasia-syndactyly syndrome 1, NECTIN4-related disorder, Ectodermal dysplasia-syndactyly syndrome 1
Health Risk
RS771442826
Likely pathogenic
Health Risk
RS1085307124
Pathogenic
Ectodermal dysplasia-syndactyly syndrome 1, Ectodermal dysplasia-syndactyly syndrome 1
Health Risk
RS1085307125
Pathogenic
Ectodermal dysplasia-syndactyly syndrome 1, Ectodermal dysplasia-syndactyly syndrome 1
Health Risk
RS1571153052
Pathogenic
Ectodermal dysplasia-syndactyly syndrome 1, Ectodermal dysplasia-syndactyly syndrome 1
Health Risk
RS1653335301
Pathogenic
Ectodermal dysplasia-syndactyly syndrome 1, Ectodermal dysplasia-syndactyly syndrome 1
Health Risk
RS267606991
Pathogenic
Ectodermal dysplasia-syndactyly syndrome 1, Ectodermal dysplasia-syndactyly syndrome 1
Health Risk
RS267606992
Pathogenic
Ectodermal dysplasia-syndactyly syndrome 1, Ectodermal dysplasia-syndactyly syndrome 1
Health Risk
RS387907014
Pathogenic
Ectodermal dysplasia-syndactyly syndrome 1, Ectodermal dysplasia-syndactyly syndrome 1
Health Risk
RS730880260
Pathogenic
Ectodermal dysplasia-syndactyly syndrome 1, Ectodermal dysplasia-syndactyly syndrome 1
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1537044 | Health Risk | Conflicting classifications of pathogenicity | Ectodermal dysplasia-syndactyly syndrome 1, NECTIN4-related disorder, Ectodermal dysplasia-syndactyly syndrome 1 |
| RS771442826 | Health Risk | Likely pathogenic | — |
| RS1085307124 | Health Risk | Pathogenic | Ectodermal dysplasia-syndactyly syndrome 1, Ectodermal dysplasia-syndactyly syndrome 1 |
| RS1085307125 | Health Risk | Pathogenic | Ectodermal dysplasia-syndactyly syndrome 1, Ectodermal dysplasia-syndactyly syndrome 1 |
| RS1571153052 | Health Risk | Pathogenic | Ectodermal dysplasia-syndactyly syndrome 1, Ectodermal dysplasia-syndactyly syndrome 1 |
| RS1653335301 | Health Risk | Pathogenic | Ectodermal dysplasia-syndactyly syndrome 1, Ectodermal dysplasia-syndactyly syndrome 1 |
| RS267606991 | Health Risk | Pathogenic | Ectodermal dysplasia-syndactyly syndrome 1, Ectodermal dysplasia-syndactyly syndrome 1 |
| RS267606992 | Health Risk | Pathogenic | Ectodermal dysplasia-syndactyly syndrome 1, Ectodermal dysplasia-syndactyly syndrome 1 |
| RS387907014 | Health Risk | Pathogenic | Ectodermal dysplasia-syndactyly syndrome 1, Ectodermal dysplasia-syndactyly syndrome 1 |
| RS730880260 | Health Risk | Pathogenic | Ectodermal dysplasia-syndactyly syndrome 1, Ectodermal dysplasia-syndactyly syndrome 1 |