ADGB Gene (Androglobin)
A testis-enriched globin gene with potential roles in spermatogenesis and oxygen sensing
Gene Information Card
| Symbol | ADGB |
|---|---|
| Full Name | Androglobin |
| Gene Type | Protein-coding |
| Chromosomal Location | 6q24.2 |
| NCBI Gene ID | 100131731 ncbi.nlm.nih.gov/gene/100131731 |
| Ensembl ID | ENSG00000204103 |
| UniProt ID | A6NNA5 |
| OMIM ID | 617745 |
| HGNC ID | 37228 |
| Aliases | FLJ45831, C6orf58, dJ1033B10.2 |
Description
ADGB (androglobin) is a member of the globin family, characterized by a conserved globin domain. It is predominantly expressed in the testis and is thought to play a role in spermatogenesis and oxygen transport or sensing. The gene is located on chromosome 6q24.2 and encodes a protein of approximately 1,200 amino acids. Its expression is highly tissue-specific, with minimal detection in other somatic tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (non-obstructive azoospermia) | Impaired spermatogenesis due to reduced or absent ADGB expression | Limited evidence from expression studies; no large-scale genetic association confirmed |
| Testicular germ cell tumors | Potential dysregulation of ADGB in testicular cancer | Observational expression data; not validated in functional studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Fallopian tube | 0.3 | Not detected |
| Ovary | 0.2 | Not detected |
| Prostate | 0.1 | Not detected |
| Other tissues | <0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 15.2 | Moderate expression |
| Embryonic stem cell line (H1) | 0.5 | Low |
| HeLa | 0.1 | Not detected |
| HEK293 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% in gnomAD | Premature truncation; likely loss of function |
| c.567G>A (p.Val189Met) | Missense | 0.02% in gnomAD | Unknown effect; not reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*) are predicted to cause loss of function via nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No gain-of-function mutations reported for ADGB.
Dominant Negative (DN)
No dominant-negative mutations reported for ADGB.
View complete mutation data：
Gene Ontology (GO)
| • heme binding (GO:0020037) | • oxygen binding (GO:0019825) |
| • cytoplasm (GO:0005737) | • spermatogenesis (GO:0007283) |
Pathways
• Not annotated in major pathway databases (KEGG
• Reactome)
Protein Summary
Androglobin is a large, multi-domain protein containing an N-terminal globin domain that binds heme and oxygen. It is predominantly expressed in the testis, specifically in spermatocytes and spermatids, suggesting a role in oxygen homeostasis during spermatogenesis. The protein also contains calpain-like domains, which may be involved in proteolytic regulation. Its exact biochemical function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADGB Knockout HEK293 Cell Line | EDJ-KQ12287 | Human | 79747 | Details Get a Quote |
| ADGB Knockout HeLa Cell Line | EDJ-KQ57217 | Human | 79747 | Details Get a Quote |
| ADGB Knockout A-549 Cell Line | EDJ-KQ65732 | Human | 79747 | Details Get a Quote |
| ADGB Knockout HCT 116 Cell Line | EDJ-KQ74149 | Human | 79747 | Details Get a Quote |
