| Tbio | Ammonium transporter Rh type A |
Associated with rhesus blood group antigen expression (PubMed:19744193). May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane (PubMed:11062476, PubMed:11861637). Involved in ammonia transport across the erythrocyte membrane (PubMed:21849667, PubMed:22012326). Seems to act in monovalent cation transport (PubMed:18931342, PubMed:21849667).
The protein encoded by this gene is erythrocyte-specific and is thought to be part of a membrane channel that transports ammonium and carbon dioxide across the blood cell membrane. The encoded protein appears to interact with Rh blood group antigens and Rh30 polypeptides. Defects in this gene are a cause of regulator type Rh-null hemolytic anemia (RHN), or Rh-deficiency syndrome.[provided by RefSeq, Mar 2009]
The protein encoded by this gene is erythrocyte-specific and is thought to be part of a membrane channel that transports ammonium and carbon dioxide across the blood cell membrane. The encoded protein appears to interact with Rh blood group antigens and Rh30 polypeptides. Defects in this gene are a cause of regulator type Rh-null hemolytic anemia (RHN), or Rh-deficiency syndrome.[provided by RefSeq, Mar 2009]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Rh-Null, Regulator Type | 1 | 0.0 | 0.0 |
| Stomatocytosis I | 2 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| osteosarcoma | 7950 | 1.5e-12 |
| psoriasis | 6694 | 6.0e-11 |
| medulloblastoma, large-cell | 6241 | 3.4e-05 |
| mucosa-associated lymphoid tissue lymphoma | 484 | 2.4e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Congenital hemolytic anemia | 32 | 0.0 | 4.0 |
| Disease | log2 FC | p |
|---|---|---|
| medulloblastoma, large-cell | 1.200 | 3.4e-05 |
| mucosa-associated lymphoid tissue lympho... | 2.351 | 2.4e-02 |
| osteosarcoma | -6.769 | 1.5e-12 |
| psoriasis | -1.500 | 6.0e-11 |
MRFTFPLMAIVLEIAMIVLFGLFVEYETDQTVLEQLNITKPTDMGIFFELYPLFQDVHVMIFVGFGFLMT 1 - 70 FLKKYGFSSVGINLLVAALGLQWGTIVQGILQSQGQKFNIGIKNMINADFSAATVLISFGAVLGKTSPTQ 71 - 140 MLIMTILEIVFFAHNEYLVSEIFKASDIGASMTIHAFGAYFGLAVAGILYRSGLRKGHENEESAYYSDLF 141 - 210 AMIGTLFLWMFWPSFNSAIAEPGDKQCRAIVNTYFSLAACVLTAFAFSSLVEHRGKLNMVHIQNATLAGG 211 - 280 VAVGTCADMAIHPFGSMIIGSIAGMVSVLGYKFLTPLFTTKLRIHDTCGVHNLHGLPGVVGGLAGIVAVA 281 - 350 MGASNTSMAMQAAALGSSIGTAVVGGLMTGLILKLPLWGQPSDQNCYDDSVYWKVPKTR 351 - 409 //
