Human Gene SLC4A3 (uc002vmn.2)
  Description: Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.
RefSeq Summary (NM_201574): The protein encoded by this gene is a plasma membrane anion exchange protein. The encoded protein has been found in brain, heart, kidney, small intestine, and lung. [provided by RefSeq, May 2016].
Transcript (Including UTRs)
   Position: hg19 chr2:220,492,292-220,496,838 Size: 4,547 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr2:220,492,715-220,496,838 Size: 4,124 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:220,492,292-220,496,838)mRNA (may differ from genome)Protein (347 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGeneCardsGeneNetworkHGNC
LynxMalacardsMGIPubMedTreefamUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: F8WD49_HUMAN
DESCRIPTION: SubName: Full=Anion exchange protein 3;
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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SLC4A3
CDC HuGE Published Literature: SLC4A3
Positive Disease Associations: epilepsy
Related Studies:
  1. epilepsy
    Sander T et al. 2002, Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy., Epilepsy research. 2002 Oct;51(3):249-55. [PubMed 12399075]

-  MalaCards Disease Associations
  MalaCards Gene Search: SLC4A3
Diseases sorted by gene-association score: cataract 14, multiple types (12)

-  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: 108.12 RPKM in Heart - Left Ventricle
Total median expression: 766.07 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 -152.90269-0.568 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
IPR002979 - Anion_exchange_3
IPR013769 - HCO3_transpt_cyt
IPR003020 - HCO3_transpt_euk
IPR016152 - PTrfase/Anion_transptr

ModBase Predicted Comparative 3D Structure on F8WD49
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    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005452 inorganic anion exchanger activity
GO:0008509 anion transmembrane transporter activity

Biological Process:
GO:0006820 anion transport
GO:0015698 inorganic anion transport
GO:0098656 anion transmembrane transport

Cellular Component:
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AY142112 - Homo sapiens anion exchanger SLC4A3 mRNA, complete cds; alternatively spliced.
AK314083 - Homo sapiens cDNA, FLJ94757.
AK309025 - Homo sapiens cDNA, FLJ99066.
AK289974 - Homo sapiens cDNA FLJ75597 complete cds, highly similar to Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 1, mRNA.
AK226122 - Homo sapiens mRNA for solute carrier family 4, anion exchanger, member 3 isoform 2 variant, clone: ak00083.
BC146656 - Homo sapiens solute carrier family 4, anion exchanger, member 3, mRNA (cDNA clone MGC:164850 IMAGE:40147933), complete cds.
BC136384 - Homo sapiens solute carrier family 4, anion exchanger, member 3, mRNA (cDNA clone MGC:167994 IMAGE:9020371), complete cds.
BC171760 - Homo sapiens solute carrier family 4, anion exchanger, member 3, mRNA (cDNA clone MGC:198474 IMAGE:9054413), complete cds.
AK299109 - Homo sapiens cDNA FLJ51052 complete cds, highly similar to Anion exchange protein 3.
JD130395 - Sequence 111419 from Patent EP1572962.
U05596 - Human anion exchanger 3 brain isoform (bAE3) mRNA, complete cds.
AB384869 - Synthetic construct DNA, clone: pF1KB3864, Homo sapiens SLC4A3 gene for solute carrier family 4, anion exchanger, member 3, complete cds, without stop codon, in Flexi system.
KJ897562 - Synthetic construct Homo sapiens clone ccsbBroadEn_06956 SLC4A3 gene, encodes complete protein.
L27213 - Homo sapiens anion exchange protein mRNA, complete cds.

-  Other Names for This Gene
  Alternate Gene Symbols: AK226122, F8WD49, F8WD49_HUMAN
UCSC ID: uc002vmn.2
RefSeq Accession: NM_201574
Protein: F8WD49

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK226122.1
exon count: 7CDS single in 3' UTR: no RNA size: 3836
ORF size: 1041CDS single in intron: no Alignment % ID: 99.87
txCdsPredict score: 2122.00frame shift in genome: no % Coverage: 29.09
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: no 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.