Table 1. Characteristics of the SLC4 family members.
| Human Gene Symbol (HUGO) |
Protein name |
Aliases | Predominant Substrates |
Transport type* |
Tissue distribution and cellular/subcellular expression |
Link to. disease† |
Human gene locus |
Sequence Accession ID |
Splice Variants and their specific features |
|---|---|---|---|---|---|---|---|---|---|
| SLC4A1 | AE1 | Band 3 | Chloride Bicarbonate |
E | Erythrocytes, intercalated cells of renal collecting duct, heart and colon |
Hemolytic anemia, distal renal tubular acidosis |
17q21—q22 | NM_000342 | 2 |
| SLC4A2 | AE2 | Chloride Bicarbonate |
E | Widely distributed; basolateral in most epithelial cells |
7q35—36 | NM_003040 | 5 | ||
| SLC4A3 | AE3 | Chloride Bicarbonate |
E | Brain, retina, heart and smooth muscle. Also epithelial cells of kidney and GI tract |
2q36 | NM_005070 | ≥ 2 | ||
| SLC4A4 | NBCel | NBC, NBC1 |
Sodium Bicarbonate (and/or Carbonate) |
C | NBCe1-A: renal proximal tubule, eye NBCe1-B: widely distributed, pancreas, heart, eye. NBCe1-C: brain |
Severe proximal renal tubular acidosis, ocular abnormalities, short stature |
4q21 | NM_003759 | 5 |
| SLC4A5 | NBCe2 | NBC4 | Sodium Bicarbonate (and/or Carbonate) |
C | Liver, testes, spleen | 2p13 | NM_133478 | ≥1 | |
| SLC4A6 [not used] |
- | - | - | - | - | - | - | - | - |
| SLC4A7 | NBCnl | NBC2, NBC3 |
Sodium Bicarbonate |
C | Widely distributed, spleen, testes, brain, heart, lung, liver and kidney; not skeletal muscle. |
Blindness, auditory impairment |
3p22 | NM_003615 | ≥3 |
| SLC4A8 | NDCBE | kNBC3 | Sodium Bicarbonate Chloride |
C and E | Brain, testes, kidney and ovary |
12q13 | NM_004858 | 4 | |
| SLC4A9 | - | AE4 | Inconclusive | ? | At least kidney | 5q31 | NM 031467 | 1 | |
| SLC4A10 | NBCn2 | NCBE | Sodium Bicarbonate Chloride |
C and E | Brain | 2q23—q24 | NM_022058 | 4 | |
| SLC4A11 | BTR1 | NaBCl | (sodium, borate) | C* | Kidney, salivary gland testis, thyroid, trachea |
20p12 | NM_032034 | 1 |
*
C: Cotransporter, E: Exchanger, O: Orphan transporter, Disputed
†
All examples are genetic defects