KLHDC7A Gene
Kelch Domain Containing 7A
Gene Information Card
| Symbol | KLHDC7A |
|---|---|
| Full Name | kelch domain containing 7A |
| Gene Type | protein-coding |
| Chromosomal Location | 1p31.1 |
| NCBI Gene ID | 126282 ncbi.nlm.nih.gov/gene/126282 |
| Ensembl ID | ENSG00000162614 |
| UniProt ID | Q8N2M8 |
| OMIM ID | 617269 |
| HGNC ID | 25154 |
| Aliases | FLJ10769, MGC131891 |
Description
KLHDC7A (kelch domain containing 7A) is a protein-coding gene located on chromosome 1p31.1. The encoded protein contains a kelch domain, which is typically involved in protein-protein interactions and substrate recognition. The function of KLHDC7A 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 brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease association | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.5 | Medium |
| Testis | 7.2 | Medium |
| Lung | 4.1 | Low |
| Liver | 3.0 | Low |
| Kidney | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.0 | Moderate expression |
| HeLa | 4.5 | Low expression |
| K562 | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | 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) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Pathways
• No curated pathway associations
Protein Summary
The KLHDC7A protein (UniProt Q8N2M8) contains a kelch repeat domain, which is predicted to mediate protein-protein interactions. Its exact biological function remains unclear, but it may be involved in ubiquitin-dependent processes or cytoskeletal organization. The protein is localized to the nucleus and cytoplasm.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KLHDC7A Knockout HEK293 Cell Line | EDJ-KQ9125 | Human | 127707 | Details Get a Quote |
| KLHDC7A Knockout A-549 Cell Line | EDJ-KQ34404 | Human | 127707 | Details Get a Quote |
| KLHDC7A Knockout HeLa Cell Line | EDJ-KQ58216 | Human | 127707 | Details Get a Quote |
| KLHDC7A Knockout HCT 116 Cell Line | EDJ-KQ75118 | Human | 127707 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
