Human Gene SLC4A8 (uc010snk.2)
  Description: Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 5, mRNA.
RefSeq Summary (NM_001258403): The protein encoded by this gene is a membrane protein that functions to transport sodium and bicarbonate ions across the cell membrane. The encoded protein is important for pH regulation in neurons. The activity of this protein can be inhibited by 4,4'-Di-isothiocyanatostilbene-2,2'-disulfonic acid (DIDS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012].
Transcript (Including UTRs)
   Position: hg19 chr12:51,818,901-51,874,391 Size: 55,491 Total Exon Count: 17 Strand: +
Coding Region
   Position: hg19 chr12:51,844,689-51,874,006 Size: 29,318 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:51,818,901-51,874,391)mRNA (may differ from genome)Protein (747 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMalacardsMGIOMIM
PubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: E7EML0_HUMAN
DESCRIPTION: SubName: Full=Electroneutral sodium bicarbonate exchanger 1;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SLC4A8
Diseases sorted by gene-association score: voyeurism (4), transvestism (3), fetishism (3), exhibitionism (2), suppurative cholangitis (1), usher syndrome, type 2c (1), paraphilia disorder (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.58 RPKM in Pituitary
Total median expression: 45.82 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -188.70409-0.461 Picture PostScript Text
3' UTR -85.30385-0.222 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011531 - HCO3_transpt_C
IPR013769 - HCO3_transpt_cyt
IPR003020 - HCO3_transpt_euk
IPR003024 - Na/HCO3_transpt
IPR016152 - PTrfase/Anion_transptr

Pfam Domains:
PF00955 - HCO3- transporter family
PF07565 - Band 3 cytoplasmic domain

SCOP Domains:
55804 - Phoshotransferase/anion transport protein

ModBase Predicted Comparative 3D Structure on E7EML0
FrontTopSide
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.

-  Orthologous Genes in Other Species
  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  AK295315 - Homo sapiens cDNA FLJ60258 complete cds, highly similar to Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8, transcript variant 2, mRNA.
AB018282 - Homo sapiens mRNA for KIAA0739 protein, partial cds.
DQ996398 - Homo sapiens tissue-type heart sodium bicarbonate cotransporter (SLC4A8) mRNA, complete cds, alternatively spliced.
DQ996537 - Homo sapiens tissue-type brain sodium bicarbonate cotransporter (SLC4A8) mRNA, complete cds, alternatively spliced.
DQ975204 - Homo sapiens sodium-driven chloride bicarbonate exchanger (SLC4A8) mRNA, complete cds.
AK128321 - Homo sapiens cDNA FLJ46462 fis, clone THYMU3021755.
AB384518 - Synthetic construct DNA, clone: pF1KA0739, Homo sapiens SLC4A8 gene for solute carrier family 4, anion exchanger, member 8, complete cds, without stop codon, in Flexi system.
AK299545 - Homo sapiens cDNA FLJ60342 complete cds, highly similar to Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8, transcript variant 2, mRNA.
DQ063579 - Homo sapiens Na+-driven Cl-HCO3 exchanger (SLC4A8) mRNA, complete cds.
BC025994 - Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8, mRNA (cDNA clone MGC:26446 IMAGE:4822306), complete cds.
AF069512 - Homo sapiens sodium bicarbonate cotransporter (NBC) mRNA, complete cds.
AF107099 - Homo sapiens sodium bicarbonate cotransporter isoform 3 (NBC-3) mRNA, partial cds.
CU693092 - Synthetic construct Homo sapiens gateway clone IMAGE:100018418 5' read SLC4A8 mRNA.
KJ901982 - Synthetic construct Homo sapiens clone ccsbBroadEn_11376 SLC4A8 gene, encodes complete protein.
AL831915 - Homo sapiens mRNA; cDNA DKFZp761B2318 (from clone DKFZp761B2318).
DQ595030 - Homo sapiens piRNA piR-61142, complete sequence.
DQ587277 - Homo sapiens piRNA piR-54389, complete sequence.
DQ599838 - Homo sapiens piRNA piR-37904, complete sequence.
JD080582 - Sequence 61606 from Patent EP1572962.
JD080583 - Sequence 61607 from Patent EP1572962.
JD515271 - Sequence 496295 from Patent EP1572962.
JD107953 - Sequence 88977 from Patent EP1572962.
JD071950 - Sequence 52974 from Patent EP1572962.
JD441772 - Sequence 422796 from Patent EP1572962.
JD329863 - Sequence 310887 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: E7EML0, E7EML0_HUMAN, F5H7F5, NM_001258403, NP_001245332
UCSC ID: uc010snk.2
RefSeq Accession: NM_001258403
Protein: E7EML0 CCDS: CCDS58232.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001258403.1
exon count: 17CDS single in 3' UTR: no RNA size: 3131
ORF size: 2244CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4355.00frame shift in genome: no % Coverage: 97.03
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.