AQP7B Gene: Aquaporin 7B
A comprehensive biomedical resource for AQP7B, including genomic annotations, expression data, and disease associations.
Gene Information Card
| Symbol | AQP7B |
|---|---|
| Full Name | Aquaporin 7B |
| Gene Type | protein-coding |
| Chromosomal Location | 9q33.3 |
| NCBI Gene ID | 100506658 ncbi.nlm.nih.gov/gene/100506658 |
| Ensembl ID | ENSG00000240204 |
| UniProt ID | A6NMK2 |
| OMIM ID | Not available |
| HGNC ID | 33732 |
| Aliases | AQP7L, MGC138234 |
Description
AQP7B (Aquaporin 7B) is a protein-coding gene located on chromosome 9q33.3. It encodes a member of the aquaporin family of water-selective membrane channels. AQP7B is closely related to AQP7 and is primarily expressed in adipose tissue and testis. Its exact physiological role is still under investigation, but it is thought to be involved in glycerol transport and water homeostasis. The gene is annotated in major databases including NCBI, Ensembl, and UniProt.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Potential role in glycerol efflux from adipocytes; altered expression may affect lipid metabolism. | Limited evidence; expression studies in adipose tissue. |
| Type 2 Diabetes | Possible involvement in glycerol metabolism and insulin resistance. | Indirect evidence from expression correlation studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose Tissue | 12.5 | Medium |
| Testis | 8.3 | Low |
| Kidney | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Adipocytes | 15.2 | Primary cell type |
| Sertoli Cells | 7.8 | Testicular expression |
| HEK293 | 2.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs143733694 | Missense | 0.1% (global) | Unknown functional effect |
| rs147123456 | Synonymous | 0.5% | No known effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported for AQP7B.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0015267 (GO:0015267) | • GO:0005215 (GO:0005215) |
| • GO:0006810 (GO:0006810) | • GO:0005886 (GO:0005886) |
Pathways
• Aquaporin-mediated transport
• Glycerol metabolism
Protein Summary
AQP7B is a putative aquaporin channel protein. It is predicted to contain six transmembrane domains and two conserved NPA (Asn-Pro-Ala) motifs typical of aquaporins. The protein likely forms a tetramer in the plasma membrane, facilitating water and small solute transport. Its expression in adipose tissue suggests a role in glycerol release, but functional studies are limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AQP7B Knockout HEK293 Cell Line | EDJ-KQ12400 | Human | 100509620 | Details Get a Quote |
| AQP7B Knockout A-549 Cell Line | EDJ-KQ41286 | Human | 100509620 | Details Get a Quote |
| AQP7B Knockout HCT 116 Cell Line | EDJ-KQ41287 | Human | 100509620 | Details Get a Quote |
| AQP7B Knockout HeLa Cell Line | EDJ-KQ41288 | Human | 100509620 | Details Get a Quote |
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