ANKFN1
Ankyrin Repeat and Fibronectin Type III Domain Containing 1
Gene Information Card
| Symbol | ANKFN1 |
|---|---|
| Full Name | Ankyrin Repeat and Fibronectin Type III Domain Containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 162282 ncbi.nlm.nih.gov/gene/162282 |
| Ensembl ID | ENSG00000187634 |
| UniProt ID | Q5VUJ6 |
| OMIM ID | 616291 |
| HGNC ID | 26764 |
| Aliases | C17orf63, FLJ25333, MGC35130 |
Description
ANKFN1 encodes a protein containing ankyrin repeats and fibronectin type III domains, suggesting roles in protein-protein interactions and cell adhesion. The gene is located on chromosome 17q21.31 and is expressed in various tissues. Its precise biological function remains under investigation, but it may be involved in neuronal development and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Testis | 3.8 | Low |
| Lung | 2.1 | Low |
| Heart | 1.5 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 1.2 | Low expression |
| HeLa | 0.9 | Low expression |
| K562 | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data
Gain of Function (GOF)
No data
Dominant Negative (DN)
No data
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) |
Protein Summary
The ANKFN1 protein (UniProt Q5VUJ6) contains ankyrin repeats and fibronectin type III domains, which are typical of proteins involved in cytoskeletal organization and cell adhesion. Its molecular function and cellular role are not fully characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKFN1 Knockout HEK293 Cell Line | EDJ-KQ12349 | Human | 162282 | Details Get a Quote |
| ANKFN1 Knockout HeLa Cell Line | EDJ-KQ41201 | Human | 162282 | Details Get a Quote |
| ANKFN1 Knockout A-549 Cell Line | EDJ-KQ67322 | Human | 162282 | Details Get a Quote |
| ANKFN1 Knockout HCT 116 Cell Line | EDJ-KQ75720 | Human | 162282 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
