HDDC2
HD domain containing 2
Gene Information Card
| Symbol | HDDC2 |
|---|---|
| Full Name | HD domain containing 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q21 |
| NCBI Gene ID | 201798 ncbi.nlm.nih.gov/gene/201798 |
| Ensembl ID | ENSG00000143384 |
| UniProt ID | Q7Z4H3 |
| OMIM ID | 617334 |
| HGNC ID | 28382 |
| Aliases | FLJ22662, MGC13170 |
Description
HDDC2 (HD domain containing 2) is a protein-coding gene located on chromosome 6q21. 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. HDDC2 is widely expressed in human tissues, with highest levels in the brain, testis, and kidney. Its precise biological function remains under investigation, but it is implicated in cellular processes such as RNA metabolism and signal transduction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.8 | Medium |
| Kidney | 9.2 | Medium |
| Liver | 6.1 | Low |
| Heart | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression |
| HeLa | 11.2 | Medium expression |
| K562 | 8.7 | Medium expression |
| A549 | 6.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | missense | <0.01% (gnomAD) | Unknown functional effect |
| c.458G>A (p.Arg153Gln) | missense | <0.01% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • catalytic activity (GO:0003824) | • protoporphyrinogen IX metabolic process (GO:0006782) |
| • hydrolase activity (GO:0016787) | • metal ion binding (GO:0046872) |
Pathways
• Not assigned to any canonical pathway
Protein Summary
The HDDC2 protein (UniProt Q7Z4H3) is 337 amino acids long and contains an HD domain (residues 42-170) characteristic of metal-dependent phosphohydrolases. It is predicted to localize to the cytoplasm and may participate in nucleotide or RNA metabolism. Structural studies suggest it binds divalent metal ions (e.g., Mg2+ or Mn2+). The protein is conserved across eukaryotes, indicating a fundamental cellular role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HDDC2 Knockout HEK293 Cell Line | EDJ-KQ10874 | Human | 51020 | Details Get a Quote |
| HDDC2 Knockout HCT 116 Cell Line | EDJ-KQ37261 | Human | 51020 | Details Get a Quote |
| HDDC2 Knockout A-549 Cell Line | EDJ-KQ38553 | Human | 51020 | Details Get a Quote |
| HDDC2 Knockout HeLa Cell Line | EDJ-KQ38555 | Human | 51020 | Details Get a Quote |
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