SLC4A7 - solute carrier family 4 member 7 Gene
Also Known as NBC2; NBC3; SBC2; NBCN1; SLC4A6
Species: Homo sapiens
About SLC4A7
This gene has 18 transcripts (splice variants), 276 orthologues and 9 paralogues. Ubiquitous expression in duodenum (RPKM 27.5), small intestine (RPKM 8.8) and 20 other tissues.
Summary
This locus encodes a sodium bicarbonate cotransporter. The encoded transmembrane protein appears to transport sodium and bicarbonate ions in a 1:1 ratio, and is thus considered an electroneutral cotransporter. The encoded protein likely plays a critical role in regulation of intracellular pH involved in visual and auditory sensory transmission. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]
SLC4A7 Products (9)
| mRNA | Protein | Name |
|---|---|---|
| NM_001258379.2 | NP_001245308.1 | sodium bicarbonate cotransporter 3 isoform b |
| NM_001258380.2 | NP_001245309.1 | sodium bicarbonate cotransporter 3 isoform c |
| NM_001321103.2 | NP_001308032.1 | sodium bicarbonate cotransporter 3 isoform d |
| NM_001321104.2 | NP_001308033.1 | sodium bicarbonate cotransporter 3 isoform e |
| NM_001321105.2 | NP_001308034.1 | sodium bicarbonate cotransporter 3 isoform f |
| NM_001321106.2 | NP_001308035.1 | sodium bicarbonate cotransporter 3 isoform g |
| NM_001321107.2 | NP_001308036.1 | sodium bicarbonate cotransporter 3 isoform h |
| NM_001321108.2 | NP_001308037.1 | sodium bicarbonate cotransporter 3 isoform i |
| NM_003615.5 | NP_003606.3 | sodium bicarbonate cotransporter 3 isoform a |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
14736710 | GOA |
| enables sodium:bicarbonate symporter activity |
IDA
IDA: Inferred from direct assay
|
10347222 | GOA |
| enables sodium:bicarbonate symporter activity |
IMP
IMP: Inferred from mutant phenotype
|
14578046 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cellular response to growth factor stimulus |
IDA
IDA: Inferred from direct assay
|
35772404 | GOA |
| involved in phagosome acidification |
IDA
IDA: Inferred from direct assay
|
29779931 | GOA |
| involved in purine nucleotide biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
35772404 | GOA |
| involved in pyrimidine nucleotide biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
35772404 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in basolateral plasma membrane |
IDA
IDA: Inferred from direct assay
|
17715183 | GOA |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
27717805 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
29779931 | GOA |
| located in plasma membrane |
IMP
IMP: Inferred from mutant phenotype
|
14578046 | GOA |
SLC4A7 Protein Structure
Band_3_cyto: Band 3 cytoplasmic domain (141 - 531)
HCO3_cotransp: HCO3- transporter family (574 - 1088)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1214 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
sodium bicarbonate cotransporter 3 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Corneal Dystrophy, Band-Shaped |
|
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| Complex Partial Epilepsy |
|
|
| Intestinal Impaction |
|
|
| Corneal Dystrophy And Perceptive Deafness |
|
|
| Usher Syndrome |
|
|
| Renal Tubular Acidosis |
|
|
| Corneal Degeneration |
|
|
| Cystic Fibrosis |
|
|
| Breast Cancer |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | SLC4A7 | VGNC | VGNC:77606 |
| Canis familiaris | SLC4A7 | VGNC | VGNC:46436 |
| Bos taurus | SLC4A7 | VGNC | VGNC:34896 |
| Rattus norvegicus | SLC4A7 | RGD | RGD:621208 |
| Felis catus | SLC4A7 | VGNC | VGNC:65391 |
| Mus musculus | SLC4A7 | MGD | MGI:2443878 |
| Others | SLC4A7 | NCBI |