Gene
slc16a12b
- ID
- ZDB-GENE-050522-80
- Name
- solute carrier family 16 member 12b
- Symbol
- slc16a12b Nomenclature History
- Previous Names
-
- im:7140871
- wu:fc44b08
- zgc:110441
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to enable creatine transmembrane transporter activity and uniporter activity. Predicted to be involved in creatine transmembrane transport and creatinine metabolic process. Predicted to act upstream of or within transmembrane transport. Predicted to be located in basolateral plasma membrane. Predicted to be active in plasma membrane. Human ortholog(s) of this gene implicated in cataract 47. Orthologous to human SLC16A12 (solute carrier family 16 member 12).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7140871 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la018067Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa44755 | Allele with one point mutation | Unknown | Unknown | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| cataract 47 | Alliance | Cataract 47, juvenile, with microcornea | 612018 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Major facilitator superfamily | Major facilitator superfamily domain | MFS transporter superfamily | Proton-linked Monocarboxylate Transporter |
|---|---|---|---|---|---|
|
UniProtKB:Q503M4
|
477 | ||||
|
UniProtKB:F1Q846
|
488 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc16a12b-201
(1)
|
Ensembl | 2,322 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 | DKEY-26G8 | ZFIN Curated Data | |
| Contains | SNP | rs3728468 | ZFIN Curated Data | |
| Encodes | EST | fc44b08 | ||
| Encodes | EST | IMAGE:7043796 | ||
| Encodes | EST | IMAGE:7140871 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:110441 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001145814 (1) | 2321 nt | ||
| Genomic | GenBank:BX000534 (1) | 199670 nt | ||
| Polypeptide | UniProtKB:F1Q846 (1) | 488 aa |
- Boskovic, S., Marín-Juez, R., Jasnic, J., Reischauer, S., El Sammak, H., Kojic, A., Faulkner, G., Radojkovic, D., Stainier, D.Y.R., Kojic, S. (2018) Characterization of zebrafish (Danio rerio) muscle ankyrin repeat proteins reveals their conserved response to endurance exercise. PLoS One. 13:e0204312
- 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
- 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
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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