Human Gene SLC6A12 (ENST00000359674.8) from GENCODE V44
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Sequence and Links to Tools and Databases
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Comments and Description Text from UniProtKB
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ID: S6A12_HUMAN
DESCRIPTION: RecName: Full=Sodium- and chloride-dependent betaine transporter; AltName: Full=BGT-1; AltName: Full=Na(+)/Cl(-) betaine/GABA transporter; AltName: Full=Solute carrier family 6 member 12;
FUNCTION: Transports betaine and GABA. May have a role in regulation of GABAergic transmission in the brain through the reuptake of GABA into presynaptic terminals, as well as in osmotic regulation. SUBUNIT: Interacts with LIN7C (By similarity). SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Liver, heart, skeletal muscle, placenta, and a widespread distribution in the brain. SIMILARITY: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A12 subfamily.
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Primer design for this transcript
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MalaCards Disease Associations
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Comparative Toxicogenomics Database (CTD)
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
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Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
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Protein Domain and Structure Information
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InterPro Domains: Graphical view of domain structure IPR000175 - Na/ntran_symport
IPR002983 - Na/ntran_symport_betaine
Pfam Domains: PF00209 - Sodium:neurotransmitter symporter family
ModBase Predicted Comparative 3D Structure on P48065
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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Orthologous Genes in Other Species
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Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
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Gene Ontology (GO) Annotations with Structured Vocabulary
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Descriptions from all associated GenBank mRNAs
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BC036838 - Homo sapiens cDNA clone IMAGE:5187676, containing frame-shift errors. AK096046 - Homo sapiens cDNA FLJ38727 fis, clone KIDNE2010419, highly similar to Sodium- and chloride-dependent betaine transporter. U27699 - Homo sapiens pephBGT-1 betaine-GABA transporter mRNA, complete cds. BC026339 - Homo sapiens cDNA clone IMAGE:4794351, containing frame-shift errors. AK125026 - Homo sapiens cDNA FLJ43036 fis, clone BRTHA3002427, highly similar to Sodium- and chloride-dependent betaine transporter. AK131564 - Homo sapiens cDNA FLJ16816 fis, clone THYMU3046350, highly similar to Sodium- and chloride-dependent betaine transporter. JD232805 - Sequence 213829 from Patent EP1572962. JD403561 - Sequence 384585 from Patent EP1572962. JD323393 - Sequence 304417 from Patent EP1572962. BC126215 - Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12, mRNA (cDNA clone MGC:161493 IMAGE:8991931), complete cds. BC126217 - Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12, mRNA (cDNA clone MGC:161495 IMAGE:8991933), complete cds. JD265526 - Sequence 246550 from Patent EP1572962. JD059464 - Sequence 40488 from Patent EP1572962. JD142118 - Sequence 123142 from Patent EP1572962. JD205265 - Sequence 186289 from Patent EP1572962. JD259937 - Sequence 240961 from Patent EP1572962. JD325759 - Sequence 306783 from Patent EP1572962. JD153401 - Sequence 134425 from Patent EP1572962. JD438129 - Sequence 419153 from Patent EP1572962. JD242323 - Sequence 223347 from Patent EP1572962. L42300 - Homo sapiens (clone hS1a) betaine/GABA transporter (BGT-1) mRNA, complete cds. AK313690 - Homo sapiens cDNA, FLJ94280, highly similar to Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), mRNA. HQ258313 - Synthetic construct Homo sapiens clone IMAGE:100072622 solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 2 (SLC6A12) gene, encodes complete protein. AK307167 - Homo sapiens cDNA, FLJ97115. JD355102 - Sequence 336126 from Patent EP1572962. JD200827 - Sequence 181851 from Patent EP1572962. JD516514 - Sequence 497538 from Patent EP1572962. JD321490 - Sequence 302514 from Patent EP1572962. JD097291 - Sequence 78315 from Patent EP1572962.
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Biochemical and Signaling Pathways
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Other Names for This Gene
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Alternate Gene Symbols: A0AV52, B2R992, D3DUN8, ENST00000359674.1, ENST00000359674.2, ENST00000359674.3, ENST00000359674.4, ENST00000359674.5, ENST00000359674.6, ENST00000359674.7, NM_001122847, P48065, S6A12_HUMAN, uc001qia.1, uc001qia.2, uc001qia.3 UCSC ID: ENST00000359674.8 RefSeq Accession: NM_001122847
Protein: P48065
(aka S6A12_HUMAN or S6AC_HUMAN)
CCDS: CCDS8501.1
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Methods, Credits, and Use Restrictions
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Click here
for details on how this gene model was made and data restrictions if any.
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