PTPN14 Chromosome 1
Protein tyrosine phosphatase non-receptor type 14
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What This Gene Does
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton localization of this protein. It appears to regulate lymphatic development in mammals, and a loss of function mutation has been found in a kindred with a lymphedema-choanal atresia. [provided by RefSeq, Sep 2010]
Gene Info
Gene Group
"Protein tyrosine phosphatases non-receptor type|FERM domain containing"
Locus Type
gene with protein product
Location
1q32.3-q41
Ensembl
ENSG00000152104
Associated Conditions (2)
Esophageal atresia/tracheoesophageal fistula
Lymphedema-posterior choanal atresia syndrome
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS774735121 | Health Risk | Likely pathogenic | Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula |
| RS1558092113 | Health Risk | Pathogenic | Lymphedema-posterior choanal atresia syndrome, Lymphedema-posterior choanal atresia syndrome |
| RS971817654 | Health Risk | Pathogenic | — |