MANSC4
MANSC Domain Containing Protein 4
Gene Information Card
| Symbol | MANSC4 |
|---|---|
| Full Name | MANSC domain containing 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 100129924 ncbi.nlm.nih.gov/gene/100129924 |
| Ensembl ID | ENSG00000204301 |
| UniProt ID | A6NKD9 |
| OMIM ID | - |
| HGNC ID | 37290 |
| Aliases | MGC16169, dJ104K21.2 |
Description
MANSC4 (MANSC domain containing 4) is a protein-coding gene located on chromosome 12p13.31. The encoded protein contains a MANSC (MANSC domain) motif, which is found in a family of proteins with unknown function. Limited functional data are available; expression studies suggest low-level transcription in select tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently curated | Not established | No evidence in OMIM, ClinVar, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.3 | Low |
| Thyroid | 0.2 | Low |
| Adipose tissue | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.1 | Low expression |
| K562 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | - | - | - |
Mutation functional classification
Loss of Function (LOF)
Not characterized
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
View complete mutation data：
Protein Summary
MANSC4 encodes a small protein (approximately 100 amino acids) containing a single MANSC domain. The protein's biological function remains unknown; no enzymatic activity or interaction partners have been experimentally validated. Structural predictions suggest a possible role in protein-protein interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MANSC4 Knockout HEK293 Cell Line | EDJ-KQ14192 | Human | 100287284 | Details Get a Quote |
| MANSC4 Knockout HeLa Cell Line | EDJ-KQ60859 | Human | 100287284 | Details Get a Quote |
| MANSC4 Knockout A-549 Cell Line | EDJ-KQ69333 | Human | 100287284 | Details Get a Quote |
| MANSC4 Knockout HCT 116 Cell Line | EDJ-KQ77687 | Human | 100287284 | Details Get a Quote |
