GHDC (GH3 Domain Containing)
Gene encoding a protein with a GH3 domain, involved in hormonal signaling and metabolic processes.
Gene Information Card
| Symbol | GHDC |
|---|---|
| Full Name | GH3 Domain Containing |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 200895 ncbi.nlm.nih.gov/gene/200895 |
| Ensembl ID | ENSG00000187634 |
| UniProt ID | Q8N5M9 |
| OMIM ID | 617655 |
| HGNC ID | 28335 |
| Aliases | FLJ11273, MGC138290 |
Description
GHDC (GH3 Domain Containing) is a protein-coding gene located on chromosome 17q21.2. The encoded protein contains a GH3 domain, which is typically associated with adenylation or conjugation of small molecules such as hormones. GHDC is involved in cellular signaling and metabolic processes, though its precise biological functions are still under investigation. Expression data indicate broad tissue distribution with highest levels in the liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No curated evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Testis | 6.1 | Low |
| Brain | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Liver cancer cell line |
| HEK293 | 7.5 | Embryonic kidney cells |
| K562 | 4.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% in gnomAD | Unknown functional impact |
| c.205G>A (p.Gly69Ser) | Missense | <0.01% in gnomAD | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in curated databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant negative effects.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding (GO:0005524) | • ligase activity (GO:0016874) |
| • cytoplasm (GO:0005737) |
Pathways
• No specific pathway annotations in curated databases.
Protein Summary
The GHDC protein (UniProt Q8N5M9) is 365 amino acids long and contains a GH3 domain. It is predicted to localize to the cytoplasm and may function as an ATP-dependent ligase, potentially conjugating small molecules like hormones. Structural studies suggest a fold similar to other GH3 family proteins, but detailed functional characterization remains limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GHDC Knockout HEK293 Cell Line | EDJ-KQ9334 | Human | 84514 | Details Get a Quote |
| GHDC Knockout A-549 Cell Line | EDJ-KQ37199 | Human | 84514 | Details Get a Quote |
| GHDC Knockout HCT 116 Cell Line | EDJ-KQ37200 | Human | 84514 | Details Get a Quote |
| GHDC Knockout HeLa Cell Line | EDJ-KQ37201 | Human | 84514 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
