KLHL12 Gene - Kelch Like Family Member 12
A comprehensive resource for KLHL12 gene information, including genomic data, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | KLHL12 |
|---|---|
| Full Name | kelch like family member 12 |
| Gene Type | protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 59349 ncbi.nlm.nih.gov/gene/59349 |
| Ensembl ID | ENSG00000117152 |
| UniProt ID | Q53G59 |
| OMIM ID | 613442 |
| HGNC ID | 28972 |
| Aliases | DKFZp686H1720, FLJ20097, KIAA1386 |
Description
KLHL12 (kelch like family member 12) is a protein coding gene. It encodes a member of the kelch-like protein family, which is characterized by a BTB/POZ domain and kelch repeats. The protein is involved in ubiquitination and protein degradation pathways, acting as a substrate-specific adapter for CUL3-based E3 ubiquitin ligase complexes. KLHL12 plays roles in cell cycle regulation, ciliogenesis, and vesicle trafficking.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in OMIM | Not applicable | No evidence in OMIM or ClinVar for germline disease |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.3 | Low |
| Liver | 4.1 | Low |
| Kidney | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | High expression in embryonic kidney cells |
| HeLa | 9.5 | Moderate expression in cervical cancer cells |
| K562 | 6.2 | Low expression in leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown functional effect |
| c.1246G>A (p.Gly416Ser) | Missense | <0.01% | 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)
| • ubiquitin-protein transferase activity | • protein binding |
| • culin family protein binding | • cell cycle |
| • ciliogenesis | • vesicle-mediated transport |
Pathways
• CUL3-based E3 ubiquitin ligase complex
• Ubiquitin-proteasome pathway
Protein Summary
The KLHL12 protein contains a BTB/POZ domain at the N-terminus and six kelch repeats at the C-terminus. It functions as a substrate adapter for CUL3 ubiquitin ligase, targeting proteins for proteasomal degradation. It is involved in regulating the cell cycle, primary cilium formation, and intracellular trafficking. Expression is highest in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KLHL12 Knockout HEK293 Cell Line | EDJ-KQ12219 | Human | 59349 | Details Get a Quote |
| KLHL12 Knockout A-549 Cell Line | EDJ-KQ40966 | Human | 59349 | Details Get a Quote |
| KLHL12 Knockout HeLa Cell Line | EDJ-KQ40968 | Human | 59349 | Details Get a Quote |
| KLHL12 Knockout HCT 116 Cell Line | EDJ-KQ39729 | Human | 59349 | Details Get a Quote |
