ANKRD36
Ankyrin Repeat Domain 36
Gene Information Card
| Symbol | ANKRD36 |
|---|---|
| Full Name | Ankyrin Repeat Domain 36 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q11.2 |
| NCBI Gene ID | 375248 ncbi.nlm.nih.gov/gene/375248 |
| Ensembl ID | ENSG00000162910 |
| UniProt ID | Q8N6N3 |
| OMIM ID | 615933 |
| HGNC ID | 26449 |
| Aliases | ANKRD36A, FLJ46361 |
Description
ANKRD36 (ankyrin repeat domain 36) is a protein-coding gene located on chromosome 2q11.2. The encoded protein contains multiple ankyrin repeats, which are common motifs involved in protein-protein interactions. ANKRD36 is expressed in various tissues and may play a role in cellular signaling and structural organization. Variants in this gene have been associated with susceptibility to certain diseases, including autoimmune disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Systemic lupus erythematosus | Genetic association; risk variant in intronic region | GWAS (PMID: 26502338) |
| Rheumatoid arthritis | Genetic association; possible immune modulation | GWAS (PMID: 24390342) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.2 | Low |
| Liver | 4.1 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Moderate expression |
| K562 | 7.8 | Low expression |
| HeLa | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs117026326 | SNV | 0.02 (East Asian) | Intronic; associated with SLE risk |
| rs10168266 | SNV | 0.15 (European) | Intronic; possible regulatory effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) |
Protein Summary
The ANKRD36 protein contains ankyrin repeat domains, which mediate protein-protein interactions. Its exact biological function is not fully characterized, but it is predicted to be involved in cellular signaling and structural organization. Expression data suggest a role in immune-related tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD36C Knockout HEK293 Cell Line | EDJ-KQ11606 | Human | 400986 | Details Get a Quote |
| ANKRD36 Knockout HEK293 Cell Line | EDJ-KQ12365 | Human | 375248 | Details Get a Quote |
| ANKRD36B Knockout HEK293 Cell Line | EDJ-KQ12367 | Human | 57730 | 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 |
| ANKRD36 Knockout HeLa Cell Line | EDJ-KQ39962 | Human | 375248 | Details Get a Quote |
| ANKRD36 Knockout A-549 Cell Line | EDJ-KQ41217 | Human | 375248 | Details Get a Quote |
| ANKRD36 Knockout HCT 116 Cell Line | EDJ-KQ41218 | Human | 375248 | Details Get a Quote |
| ANKRD36B Knockout A-549 Cell Line | EDJ-KQ41219 | Human | 57730 | Details Get a Quote |
| ANKRD36B Knockout HCT 116 Cell Line | EDJ-KQ41220 | Human | 57730 | Details Get a Quote |
| ANKRD36B Knockout HeLa Cell Line | EDJ-KQ41221 | Human | 57730 | Details Get a Quote |
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