KLHDC8A Gene
Kelch Domain Containing 8A
Gene Information Card
| Symbol | KLHDC8A |
|---|---|
| Full Name | Kelch Domain Containing 8A |
| Gene Type | Protein coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 55220 ncbi.nlm.nih.gov/gene/55220 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q8N2M8 |
| OMIM ID | 614260 |
| HGNC ID | 25111 |
| Aliases | FLJ10706, MGC13170 |
Description
KLHDC8A encodes a protein containing kelch domains, which are typically involved in protein-protein interactions and substrate recognition. The gene is located on chromosome 1q23.3 and is expressed in various tissues. Its precise biological function remains under investigation, but kelch domain proteins often participate in cytoskeletal organization, ubiquitination, and cell signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hodgkin lymphoma | Potential role in tumorigenesis through altered protein interactions | Limited evidence from expression studies; no direct causal mutation confirmed in ClinVar or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.0 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 6.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown functional effect |
| c.250G>A (p.Gly84Ser) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
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)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Protein Summary
The KLHDC8A protein contains multiple kelch repeats, forming a beta-propeller structure that mediates interactions with other proteins. It is localized to the cytoplasm and nucleus, suggesting roles in cellular signaling or transcriptional regulation. Detailed functional studies are limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KLHDC8A Knockout HEK293 Cell Line | EDJ-KQ13950 | Human | 55220 | Details Get a Quote |
| KLHDC8A Knockout HeLa Cell Line | EDJ-KQ56558 | Human | 55220 | Details Get a Quote |
| KLHDC8A Knockout A-549 Cell Line | EDJ-KQ65053 | Human | 55220 | Details Get a Quote |
| KLHDC8A Knockout HCT 116 Cell Line | EDJ-KQ73498 | Human | 55220 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
