KHDC4: KH Domain Containing 4
A gene encoding a protein with a KH domain, involved in RNA binding and potential roles in cellular processes.
Gene Information Card
| Symbol | KHDC4 |
|---|---|
| Full Name | KH Domain Containing 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 283450 ncbi.nlm.nih.gov/gene/283450 |
| Ensembl ID | ENSG00000162992 |
| UniProt ID | Q8N4N0 |
| OMIM ID | 618201 |
| HGNC ID | 28738 |
| Aliases | FLJ20397, MGC13170 |
Description
KHDC4 (KH Domain Containing 4) is a protein-coding gene located on chromosome 1q21.3. The encoded protein contains a KH domain, which is a conserved RNA-binding motif. KHDC4 is involved in RNA processing and may play roles in cellular differentiation and development. Expression data indicate broad tissue distribution with highest levels in testis and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | Not available |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Lung | 5.1 | Low |
| Liver | 3.2 | Low |
| Heart | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.7 | Moderate expression |
| HeLa | 4.2 | Low expression |
| K562 | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Trp) | Missense | <0.01% | Unknown functional impact |
| c.456G>A (p.Val152Met) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Not established for KHDC4
Gain of Function (GOF)
Not established for KHDC4
Dominant Negative (DN)
Not established for KHDC4
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • nucleic acid binding |
| • cytoplasm | • nucleus |
Pathways
• No specific pathways curated
Protein Summary
The KHDC4 protein (UniProt Q8N4N0) is 365 amino acids long and contains a single KH domain. It is predicted to localize to the cytoplasm and nucleus, and its RNA-binding capacity suggests involvement in post-transcriptional regulation. Detailed functional characterization is limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KHDC4 Knockout HEK293 Cell Line | EDJ-KQ2370 | Human | 22889 | Details Get a Quote |
| KHDC4 Knockout A-549 Cell Line | EDJ-KQ22826 | Human | 22889 | Details Get a Quote |
| KHDC4 Knockout HCT 116 Cell Line | EDJ-KQ22827 | Human | 22889 | Details Get a Quote |
| KHDC4 Knockout HeLa Cell Line | EDJ-KQ22828 | Human | 22889 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
