KLHDC7B Gene
Kelch Domain Containing 7B
Gene Information Card
| Symbol | KLHDC7B |
|---|---|
| Full Name | kelch domain containing 7B |
| Gene Type | protein-coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 113730 ncbi.nlm.nih.gov/gene/113730 |
| Ensembl ID | ENSG00000100298 |
| UniProt ID | Q6ZP29 |
| OMIM ID | 617200 |
| HGNC ID | 25185 |
| Aliases | FLJ32709, MGC16384 |
Description
KLHDC7B (kelch domain containing 7B) is a protein-coding gene located on chromosome 22q11.21. The encoded protein contains a kelch repeat domain, which is typically involved in protein-protein interactions and substrate recognition. The function of KLHDC7B is not fully characterized, but it may play a role in cellular processes such as ubiquitination or cytoskeletal organization. Expression data suggest broad tissue distribution with highest levels in the testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not applicable | No evidence in OMIM, ClinVar, or COSMIC as of current data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Thyroid | 8.1 | Low |
| Adrenal gland | 6.5 | Low |
| Lung | 5.3 | Low |
| Brain | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | Moderate expression |
| HeLa | 8.5 | Low expression |
| K562 | 6.2 | Low expression |
| HepG2 | 5.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported mutations 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：
Protein Summary
The KLHDC7B protein (UniProt Q6ZP29) is 574 amino acids long and contains a kelch repeat domain. Its precise molecular function is unknown, but kelch domains often mediate interactions with actin or ubiquitin ligase complexes. No post-translational modifications or structural studies are currently available.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KLHDC7B Knockout HEK293 Cell Line | EDJ-KQ7430 | Human | 113730 | Details Get a Quote |
| KLHDC7B Knockout HeLa Cell Line | EDJ-KQ57909 | Human | 113730 | Details Get a Quote |
| KLHDC7B Knockout A-549 Cell Line | EDJ-KQ66400 | Human | 113730 | Details Get a Quote |
| KLHDC7B Knockout HCT 116 Cell Line | EDJ-KQ74826 | Human | 113730 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
