KLHDC8B Gene
Kelch Domain Containing 8B
Gene Information Card
| Symbol | KLHDC8B |
|---|---|
| Full Name | kelch domain containing 8B |
| Gene Type | protein-coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 55219 ncbi.nlm.nih.gov/gene/55219 |
| Ensembl ID | ENSG00000163636 |
| UniProt ID | Q8N5M9 |
| OMIM ID | 617119 |
| HGNC ID | 25131 |
| Aliases | FLJ10979, MGC13170 |
Description
KLHDC8B (kelch domain containing 8B) is a protein-coding gene located on chromosome 3p21.31. It encodes a protein containing kelch repeat domains, which are typically involved in protein-protein interactions and substrate recognition for ubiquitination. The gene is expressed in various tissues and has been implicated in cellular processes such as protein degradation and cell cycle regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hodgkin lymphoma | Potential role in tumor suppression or immune evasion; altered expression observed in Reed-Sternberg cells | Expression studies (PMID: 19029981) |
| Lung cancer | Downregulation in non-small cell lung cancer; possible tumor suppressor | Expression analysis (COSMIC) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Lymph node | 8.7 | Low |
| Spleen | 6.5 | Low |
| Bone marrow | 5.2 | Low |
| Lung | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Moderate expression |
| HeLa | 9.8 | Low expression |
| K562 | 7.3 | Low expression |
| A549 | 5.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437C>T (p.Pro146Leu) | missense | <0.1% | Unknown functional effect |
| c.112G>A (p.Gly38Arg) | missense | <0.1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
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)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) | • nucleus (GO:0005634) |
Pathways
• Ubiquitin-proteasome pathway (inferred from kelch domain function)
Protein Summary
The KLHDC8B protein contains kelch repeat domains, which are predicted to mediate protein-protein interactions, often as part of E3 ubiquitin ligase complexes. It is localized in the cytoplasm and nucleus, suggesting roles in both cytosolic and nuclear processes. The exact biological function remains under investigation, but it may be involved in ubiquitination and protein turnover.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KLHDC8B Knockout HEK293 Cell Line | EDJ-KQ4637 | Human | 200942 | Details Get a Quote |
| KLHDC8B Knockout HCT 116 Cell Line | EDJ-KQ26080 | Human | 200942 | Details Get a Quote |
| KLHDC8B Knockout A-549 Cell Line | EDJ-KQ27322 | Human | 200942 | Details Get a Quote |
| KLHDC8B Knockout HeLa Cell Line | EDJ-KQ27323 | Human | 200942 | Details Get a Quote |
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