ZFAND2B Gene
Zinc Finger AN1-Type Domain 2B
Gene Information Card
| Symbol | ZFAND2B |
|---|---|
| Full Name | Zinc Finger AN1-Type Domain 2B |
| Gene Type | Protein coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 130617 ncbi.nlm.nih.gov/gene/130617 |
| Ensembl ID | ENSG00000163041 |
| UniProt ID | Q8N6T3 |
| OMIM ID | 618804 |
| HGNC ID | 28436 |
| Aliases | AIRAPL, C2orf40, FLJ13391 |
Description
ZFAND2B (Zinc Finger AN1-Type Domain 2B) is a protein-coding gene located on chromosome 2q33.1. It encodes a protein containing an AN1-type zinc finger domain, which is involved in stress response and protein quality control. The gene is also known as AIRAPL (Arsenite-Inducible RNA-Associated Protein-Like) and is implicated in cellular responses to proteotoxic stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Spleen | 8.7 | Low |
| Lung | 6.5 | Low |
| Brain | 4.2 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Moderate expression |
| HeLa | 10.8 | Moderate expression |
| K562 | 7.4 | Low expression |
| HepG2 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | 0.0004% (gnomAD) | Unknown functional effect |
| c.454G>A (p.Gly152Ser) | Missense | 0.0002% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Not established for ZFAND2B
Gain of Function (GOF)
Not established for ZFAND2B
Dominant Negative (DN)
Not established for ZFAND2B
View complete mutation data：
Gene Ontology (GO)
| • zinc ion binding (GO:0008270) | • polyubiquitin modification-dependent protein binding (GO:0031593) |
| • ubiquitin binding (GO:0043130) | • ubiquitin-dependent ERAD pathway (GO:0030433) |
Pathways
• Endoplasmic reticulum-associated degradation (ERAD) pathway
Protein Summary
The ZFAND2B protein (UniProt Q8N6T3) contains an AN1-type zinc finger domain that mediates ubiquitin binding. It is involved in the endoplasmic reticulum-associated degradation (ERAD) pathway, targeting misfolded proteins for proteasomal degradation. The protein is induced under stress conditions such as arsenite exposure, suggesting a role in cellular stress response and protein homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZFAND2B Knockout HEK293 Cell Line | EDJ-KQ9248 | Human | 130617 | Details Get a Quote |
| ZFAND2B Knockout A-549 Cell Line | EDJ-KQ35843 | Human | 130617 | Details Get a Quote |
| ZFAND2B Knockout HCT 116 Cell Line | EDJ-KQ35844 | Human | 130617 | Details Get a Quote |
| ZFAND2B Knockout HeLa Cell Line | EDJ-KQ35845 | Human | 130617 | Details Get a Quote |
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