INAFM2
INA Family Member 2
Gene Information Card
| Symbol | INAFM2 |
|---|---|
| Full Name | INA Family Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 100506334 ncbi.nlm.nih.gov/gene/100506334 |
| Ensembl ID | ENSG00000203782 |
| UniProt ID | A6NKD9 |
| OMIM ID | 618685 |
| HGNC ID | 49440 |
| Aliases | C1orf201, FLJ45831 |
Description
INAFM2 (INA Family Member 2) is a protein-coding gene located on chromosome 1q32.1. It encodes a protein of unknown function, but based on sequence homology it belongs to the INA family. Expression data suggest it is widely expressed in various tissues, with highest levels in testis and brain. The gene has been associated with certain cancers and developmental disorders, though detailed functional studies are limited.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | Altered expression; potential role in tumorigenesis | COSMIC database; limited functional evidence |
| Developmental disorders | Possible involvement in neurodevelopment | ClinVar; rare variants reported |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 5.1 | Low |
| Liver | 3.2 | Low |
| Kidney | 4.0 | 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.200A>G (p.Asn67Ser) | Missense | <0.01% | Unknown |
| c.350C>T (p.Thr117Met) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Not established
Gain of Function (GOF)
Not established
Dominant Negative (DN)
Not established
View complete mutation data：
Gene Ontology (GO)
| • Molecular function: unknown | • Biological process: unknown |
| • Cellular component: unknown |
Protein Summary
The INAFM2 protein (UniProt A6NKD9) is a 245-amino acid polypeptide with no characterized domains. Its function remains largely unknown, though it is predicted to be cytoplasmic. No enzymatic activity or binding partners have been experimentally validated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INAFM2 Knockout HEK293 Cell Line | EDJ-KQ13834 | Human | 100505573 | Details Get a Quote |
| INAFM2 Knockout A-549 Cell Line | EDJ-KQ42391 | Human | 100505573 | Details Get a Quote |
| INAFM2 Knockout HCT 116 Cell Line | EDJ-KQ43663 | Human | 100505573 | Details Get a Quote |
| INAFM2 Knockout HeLa Cell Line | EDJ-KQ43664 | Human | 100505573 | Details Get a Quote |
