KLHL36 Gene - Kelch Like Family Member 36
Comprehensive gene card for KLHL36, a member of the Kelch-like protein family involved in ubiquitination and protein degradation.
Gene Information Card
| Symbol | KLHL36 |
|---|---|
| Full Name | Kelch Like Family Member 36 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q24.1 |
| NCBI Gene ID | 79786 ncbi.nlm.nih.gov/gene/79786 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q8N2K0 |
| OMIM ID | 614452 |
| HGNC ID | 25266 |
| Aliases | KIAA1638, MGC138290 |
Description
KLHL36 (Kelch Like Family Member 36) is a protein-coding gene located on chromosome 16q24.1. It encodes a member of the Kelch-like protein family, characterized by a BTB/POZ domain and Kelch repeats. The protein is predicted to function as a substrate-specific adapter for a Cullin3-based E3 ubiquitin ligase complex, targeting proteins for ubiquitination and subsequent proteasomal degradation. KLHL36 is involved in cellular processes such as cell cycle regulation, cytoskeletal organization, and protein homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No evidence from ClinVar, OMIM, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.8 | Low |
| Kidney | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells |
| HeLa | 7.4 | Cervical cancer cells |
| K562 | 6.8 | Leukemia cells |
| A549 | 5.9 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations documented in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Cullin3-RING ubiquitin ligase complex
Protein Summary
The KLHL36 protein (UniProt Q8N2K0) is 627 amino acids long and contains a BTB/POZ domain (residues 40-140) and six Kelch repeats (residues 200-600). It is predicted to localize to the cytosol and function as an adapter for Cullin3-based E3 ubiquitin ligases, mediating ubiquitination of specific substrates. The protein is expressed in multiple tissues, with highest levels in testis. No disease-associated variants have been reported to date.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KLHL36 Knockout HEK293 Cell Line | EDJ-KQ13962 | Human | 79786 | Details Get a Quote |
| KLHL36 Knockout A-549 Cell Line | EDJ-KQ42616 | Human | 79786 | Details Get a Quote |
| KLHL36 Knockout HCT 116 Cell Line | EDJ-KQ43895 | Human | 79786 | Details Get a Quote |
| KLHL36 Knockout HeLa Cell Line | EDJ-KQ43896 | Human | 79786 | Details Get a Quote |
