PTPDC1 protein tyrosine phosphatase domain containing 1
Gene ID: 138639, updated on 19-Sep-2024Gene type: protein coding
Also known as: PTP9Q22
- See all available tests in GTR for this gene
- Go to complete Gene record for PTPDC1
- Go to Variation Viewer for PTPDC1 variants
Summary
The protein encoded by this gene contains a characteristic motif of protein tyrosine phosphatases (PTPs). PTPs regulate activities of phosphoproteins through dephosphorylation. They are signaling molecules involved in the regulation of a wide variety of biological processes. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus. GeneReviews: Not available | |
| Hundreds of variants clustered in genomic loci and biological pathways affect human height. GeneReviews: Not available |
Genomic context
- Location:
- 9q22.32
- Sequence:
- Chromosome: 9; NC_000009.12 (94030813..94109856)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PTPDC1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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