HDDC3
HD domain containing 3
Gene Information Card
| Symbol | HDDC3 |
|---|---|
| Full Name | HD domain containing 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q21.1 |
| NCBI Gene ID | 374864 ncbi.nlm.nih.gov/gene/374864 |
| Ensembl ID | ENSG00000188906 |
| UniProt ID | Q5T2W1 |
| OMIM ID | 617119 |
| HGNC ID | 33745 |
| Aliases | MGC16169, dJ1181N3.1 |
Description
HDDC3 (HD domain containing 3) is a protein-coding gene located on chromosome 15q21.1. The encoded protein contains an HD domain, which is a metal-dependent phosphohydrolase domain found in a variety of enzymes involved in nucleotide metabolism and signaling. The precise biological function of HDDC3 remains under investigation, but it is predicted to be involved in hydrolase activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently curated | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Brain | 2.1 | Low |
| Lung | 1.8 | Low |
| Liver | 1.5 | Low |
| Kidney | 1.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 3.0 | Low expression |
| HeLa | 2.5 | Low expression |
| K562 | 1.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No clinically significant mutations reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not established
Gain of Function (GOF)
Not established
Dominant Negative (DN)
Not established
View complete mutation data：
Gene Ontology (GO)
| • hydrolase activity | • metal ion binding |
| • nucleotide binding |
Protein Summary
The HDDC3 protein (UniProt Q5T2W1) is 244 amino acids long and contains an HD domain. It is predicted to function as a metal-dependent phosphohydrolase, potentially involved in nucleotide metabolism. Subcellular localization and interaction partners are not fully characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HDDC3 Knockout HEK293 Cell Line | EDJ-KQ13730 | Human | 374659 | Details Get a Quote |
| HDDC3 Knockout A-549 Cell Line | EDJ-KQ43489 | Human | 374659 | Details Get a Quote |
| HDDC3 Knockout HCT 116 Cell Line | EDJ-KQ43490 | Human | 374659 | Details Get a Quote |
| HDDC3 Knockout HeLa Cell Line | EDJ-KQ43491 | Human | 374659 | Details Get a Quote |
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