Gene
slc4a2a
- ID
- ZDB-GENE-051101-2
- Name
- solute carrier family 4 member 2a
- Symbol
- slc4a2a Nomenclature History
- Previous Names
-
- ae2
- slc4a2
- ae2.1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Enables chloride:bicarbonate antiporter activity. Acts upstream of or within monoatomic anion transport. Located in apical plasma membrane and basolateral plasma membrane. Is expressed in several structures, including cardiovascular system; immature eye; midbrain neural rod; optic tectum; and pronephric duct. Human ortholog(s) of this gene implicated in osteopetrosis. Orthologous to human SLC4A2 (solute carrier family 4 member 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 22 figures from 12 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu780 (8 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
la023595Tg | Transgenic insertion | Unknown | Unknown | DNA | |
la023597Tg | Transgenic insertion | Unknown | Unknown | DNA | |
la028792Tg | Transgenic insertion | Unknown | Unknown | DNA | |
sa6851 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa8405 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa14280 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa19799 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa30823 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa32951 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa39861 | Allele with one point mutation | Unknown | Splice Site | ENU |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
MO1-slc4a2a | N/A | Shmukler et al., 2008 |
MO2-slc4a2a | N/A | Shmukler et al., 2008 |
MO3-slc4a2a | N/A | Shmukler et al., 2008 |
MO4-slc4a2a | N/A | Shmukler et al., 2008 |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
?Osteopetrosis, autosomal recessive 9 | 620366 |
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Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR018241 | Anion exchange, conserved site |
Domain | IPR011531 | Bicarbonate transporter-like, transmembrane domain |
Domain | IPR013769 | Band 3 cytoplasmic domain |
Family | IPR001717 | Anion exchange protein |
Family | IPR003020 | Bicarbonate transporter, eukaryotic |
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Domain Details Per Protein
Protein | Additional Resources | Length | Anion exchange, conserved site | Anion exchange protein | Band 3 cytoplasmic domain | Bicarbonate transporter, eukaryotic | Bicarbonate transporter-like, transmembrane domain | Phosphotransferase/anion transporter |
---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M9PZ09 | InterPro | 1247 | ||||||
UniProtKB:B0S7B8 | InterPro | 1228 | ||||||
UniProtKB:Q3KVL6 | InterPro | 1228 | ||||||
UniProtKB:A0AB32TYV0 | InterPro | 1245 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
slc4a2a-201
(1)
|
Ensembl | 6,619 nt | ||
mRNA |
slc4a2a-202
(1)
|
Ensembl | 495 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | CH211-160I2 | ||
Contained in | BAC | DKEY-17J21 | ZFIN Curated Data | |
Contained in | BAC | DKEY-270K22 | ||
Encodes | EST | eu780 | Thisse et al., 2005 | |
Encodes | EST | fc01f03 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001037237 (1) | 4551 nt | ||
Genomic | GenBank:BX663499 (2) | 195369 nt | ||
Polypeptide | UniProtKB:A0A8M9PZ09 (1) | 1247 aa |
- Qian, F., Wang, X., Yin, Z., Xie, G., Yuan, H., Liu, D., Chai, R. (2020) The slc4a2b gene is required for hair cell development in zebrafish. Aging. 12(19):18804-18821
- Kamei, C.N., Gallegos, T.F., Liu, Y., Hukriede, N., Drummond, I.A. (2019) Wnt signaling mediates new nephron formation during zebrafish kidney regeneration. Development (Cambridge, England). 146(8):
- Sander, V., Salleh, L., Naylor, R.W., Schierding, W., Sontam, D.M., O'Sullivan, J.M., Davidson, A.J. (2019) Transcriptional profiling of the zebrafish proximal tubule. American journal of physiology. Renal physiology. 317(2):F478-F488
- Barat, A., Sahoo, P.K., Kumar, R., Pande, V. (2016) Solute Carriers (SLCs) identified and characterized from kidney transcriptome of golden mahseer (Tor putitora) (Fam: Cyprinidae). Comparative biochemistry and physiology. Part B, Biochemistry & molecular biology. 200:54-61
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Shmukler, B.E., Reimold, F.R., Heneghan, J.F., Chen, C., Zhao, T., Paw, B.H., Alper, S.L. (2014) Molecular cloning and functional characterization of zebrafish Slc4a3/Ae3 anion exchanger. Pflugers Archiv : European journal of physiology. 466(8):1605-18
- Tomar, R., Mudumana, S.P., Pathak, N., Hukreide, N.A., Drummond, I.A. (2014) osr1 Is Required for Podocyte Development Downstream of wt1a. Journal of the American Society of Nephrology : JASN. 25(11):2539-45
- Lam, P.Y., Kamei, C.N., Mangos, S., Mudumana, S., Liu, Y., and Drummond, I.A. (2013) odd-skipped related 2 is required for fin chondrogenesis in zebrafish. Developmental Dynamics : an official publication of the American Association of Anatomists. 242(11):1284-92
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
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