ANKRD36C: Ankyrin Repeat Domain 36C
A protein-coding gene with limited functional characterization, associated with potential roles in cellular signaling and disease susceptibility.
Gene Information Card
| Symbol | ANKRD36C |
|---|---|
| Full Name | Ankyrin Repeat Domain 36C |
| Gene Type | Protein-coding |
| Chromosomal Location | 2q11.2 |
| NCBI Gene ID | 645832 ncbi.nlm.nih.gov/gene/645832 |
| Ensembl ID | ENSG00000196839 |
| UniProt ID | Q8N6N3 |
| OMIM ID | 615922 |
| HGNC ID | 37225 |
| Aliases | ANKRD36C, FLJ46321 |
Description
ANKRD36C (ankyrin repeat domain 36C) is a protein-coding gene located on chromosome 2q11.2. It encodes a protein containing ankyrin repeats, which are common motifs involved in protein-protein interactions. The specific biological function of ANKRD36C is not fully characterized, but it may play roles in cellular signaling and structural organization. Expression data suggest low to moderate levels in select tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations in OMIM or ClinVar | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 2.1 | Low |
| Brain | 1.5 | Low |
| Heart | 1.2 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 1.8 | Low expression |
| K562 | 1.1 | Low expression |
| HeLa | 0.9 | Not detected |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants in COSMIC or ClinVar | 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:
Protein Summary
The ANKRD36C protein (UniProt Q8N6N3) contains ankyrin repeat domains, which typically mediate protein-protein interactions. Its exact molecular function and cellular role remain largely unknown due to limited research. No significant structural or functional data are available.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD36C Knockout HEK293 Cell Line | EDJ-KQ11606 | Human | 400986 | Details Get a Quote |
| ANKRD36C Knockout A-549 Cell Line | EDJ-KQ39947 | Human | 400986 | Details Get a Quote |
| ANKRD36C Knockout HCT 116 Cell Line | EDJ-KQ39948 | Human | 400986 | Details Get a Quote |
| ANKRD36C Knockout HeLa Cell Line | EDJ-KQ39949 | Human | 400986 | Details Get a Quote |
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