KLHL34 Gene - Kelch Like Family Member 34
A comprehensive resource for KLHL34 gene information, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | KLHL34 |
|---|---|
| Full Name | kelch like family member 34 |
| Gene Type | protein coding |
| Chromosomal Location | Xp11.23 |
| NCBI Gene ID | 146852 ncbi.nlm.nih.gov/gene/146852 |
| Ensembl ID | ENSG00000147180 |
| UniProt ID | Q8N4C8 |
| OMIM ID | 300952 |
| HGNC ID | 28720 |
| Aliases | FLJ32743, MGC131891 |
Description
KLHL34 (kelch like family member 34) is a protein-coding gene located on chromosome Xp11.23. The encoded protein contains a BTB/POZ domain and a kelch repeat domain, characteristic of the kelch-like family, which is involved in protein-protein interactions and substrate recognition for ubiquitination. KLHL34 is expressed in various tissues and may play a role in cellular processes such as cytoskeletal organization and protein degradation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 4.2 | Low |
| Brain | 2.1 | Low |
| Lung | 1.5 | Not detected |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 3.5 | Low expression |
| HeLa | 2.0 | Low expression |
| K562 | 1.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported variants in COSMIC or ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • metal ion binding (GO:0046872) |
Protein Summary
The KLHL34 protein (UniProt Q8N4C8) is a 612-amino acid protein containing a BTB/POZ domain (residues 1-120) and six kelch repeats (residues 200-600). It is predicted to function as a substrate-specific adapter for CUL3-based E3 ubiquitin ligase complexes, targeting proteins for ubiquitination and proteasomal degradation. Expression data suggest low to moderate levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KLHL34 Knockout HEK293 Cell Line | EDJ-KQ11867 | Human | 257240 | Details Get a Quote |
| KLHL34 Knockout HeLa Cell Line | EDJ-KQ59325 | Human | 257240 | Details Get a Quote |
| KLHL34 Knockout A-549 Cell Line | EDJ-KQ67789 | Human | 257240 | Details Get a Quote |
| KLHL34 Knockout HCT 116 Cell Line | EDJ-KQ76173 | Human | 257240 | Details Get a Quote |
