Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | SLC4A8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | SLC4A8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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# | Reference Title | Reference Citation |
1. | Effect of prediabetes on membrane bicarbonate transporters in testis and epididymis. | Bernardino RL, etal., J Membr Biol. 2013 Dec;246(12):877-83. doi: 10.1007/s00232-013-9601-4. Epub 2013 Oct 9. |
2. | The sodium-driven chloride/bicarbonate exchanger in presynaptic terminals. | Burette AC, etal., J Comp Neurol. 2012 May 1;520(7):1481-92. doi: 10.1002/cne.22806. |
3. | Expression and localization of Na-driven Cl-HCO(3)(-) exchanger (SLC4A8) in rodent CNS. | Chen LM, etal., Neuroscience. 2008 Apr 22;153(1):162-74. doi: 10.1016/j.neuroscience.2008.02.018. Epub 2008 Feb 21. |
4. | Molecular expression of SLC4-derived Na+-dependent anion transporters in selected human tissues. | Damkier HH, etal., Am J Physiol Regul Integr Comp Physiol. 2007 Nov;293(5):R2136-46. doi: 10.1152/ajpregu.00356.2007. Epub 2007 Aug 22. |
5. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
6. | The sodium-driven chloride/bicarbonate exchanger NDCBE in rat brain is upregulated by chronic metabolic acidosis. | Lee HJ, etal., Brain Res. 2011 Mar 4;1377:13-20. doi: 10.1016/j.brainres.2010.12.062. Epub 2010 Dec 30. |
7. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
8. | GOA pipeline | RGD automated data pipeline |
9. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
10. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
11. | Information Derived from GenBank Report | RGD, Sept. 2003 |
12. | Regulation of intracellular pH in pyramidal neurones from the rat hippocampus by Na(+)-dependent Cl(-)-HCO3- exchange. | Schwiening CJ and Boron WF, J Physiol. 1994 Feb 15;475(1):59-67. doi: 10.1113/jphysiol.1994.sp020049. |
13. | Cryo-EM structure of the sodium-driven chloride/bicarbonate exchanger NDCBE. | Wang W, etal., Nat Commun. 2021 Sep 28;12(1):5690. doi: 10.1038/s41467-021-25998-2. |
PMID:11133997 | PMID:16916513 | PMID:18577713 | PMID:21593314 | PMID:23500099 | PMID:23677982 |
Slc4a8 (Rattus norvegicus - Norway rat) |
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SLC4A8 (Homo sapiens - human) |
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Slc4a8 (Mus musculus - house mouse) |
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Slc4a8 (Chinchilla lanigera - long-tailed chinchilla) |
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SLC4A8 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SLC4A8 (Canis lupus familiaris - dog) |
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Slc4a8 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SLC4A8 (Sus scrofa - pig) |
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SLC4A8 (Chlorocebus sabaeus - green monkey) |
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Slc4a8 (Heterocephalus glaber - naked mole-rat) |
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Variants in Slc4a8
465 total Variants |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
D7Rat90 |
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D7Got244 |
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BF394701 |
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BF405593 |
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RH134575 |
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RH134787 |
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RH137997 |
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RH142093 |
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AI179648 |
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BQ201011 |
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BE097103 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 64 | 3 | |||||||||||
Low | 2 | 20 | 21 | 5 | 17 | 5 | 10 | 35 | 37 | 11 | |||
Below cutoff | 1 | 23 | 22 | 22 | 2 | 22 | 8 | 11 | 1 | 8 |
RefSeq Transcripts | NM_001270794 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001270795 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001414948 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_199497 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AY489024 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AY489025 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY489026 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH474035 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000040890 ⟹ ENSRNOP00000043825 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000065379 ⟹ ENSRNOP00000059220 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000094837 ⟹ ENSRNOP00000097887 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001270794 ⟹ NP_001257723 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001270795 ⟹ NP_001257724 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001414948 ⟹ NP_001401877 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_199497 ⟹ NP_955791 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001257723 | (Get FASTA) | NCBI Sequence Viewer |
NP_001257724 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001401877 | (Get FASTA) | NCBI Sequence Viewer | |
NP_955791 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAR37053 | (Get FASTA) | NCBI Sequence Viewer |
AAR37054 | (Get FASTA) | NCBI Sequence Viewer | |
AAR37055 | (Get FASTA) | NCBI Sequence Viewer | |
EDL86922 | (Get FASTA) | NCBI Sequence Viewer | |
EDL86923 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000043825 | ||
ENSRNOP00000043825.5 | |||
ENSRNOP00000059220 | |||
ENSRNOP00000059220.4 | |||
ENSRNOP00000097887.1 | |||
ENSRNOP00055038746 | |||
ENSRNOP00060021197 | |||
GenBank Protein | Q6RVG2 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_955791 ⟸ NM_199497 |
- Peptide Label: | isoform 1 |
- UniProtKB: | A0A8L2QRW9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001257723 ⟸ NM_001270794 |
- Peptide Label: | isoform 2 |
- UniProtKB: | A6KCM0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001257724 ⟸ NM_001270795 |
- Peptide Label: | isoform 3 |
- UniProtKB: | A0A8L2QRW9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000059220 ⟸ ENSRNOT00000065379 |
RefSeq Acc Id: | ENSRNOP00000043825 ⟸ ENSRNOT00000040890 |
RefSeq Acc Id: | ENSRNOP00000097887 ⟸ ENSRNOT00000094837 |
RefSeq Acc Id: | NP_001401877 ⟸ NM_001414948 |
- Peptide Label: | isoform 4 |
- UniProtKB: | Q6RVG2 (UniProtKB/Swiss-Prot), Q6RVG1 (UniProtKB/Swiss-Prot), F1LUB7 (UniProtKB/Swiss-Prot), Q6RVG3 (UniProtKB/Swiss-Prot), A6KCM0 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q6RVG2-F1-model_v2 | AlphaFold | Q6RVG2 | 1-1067 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
Database | Acc Id | Source(s) |
AGR Gene | RGD:735164 | AgrOrtholog |
BioCyc Gene | G2FUF-32007 | BioCyc |
Ensembl Genes | ENSRNOG00000028879 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ENSRNOG00055027151 | UniProtKB/Swiss-Prot | |
ENSRNOG00060015352 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENSRNOT00000040890 | ENTREZGENE |
ENSRNOT00000040890.7 | UniProtKB/Swiss-Prot | |
ENSRNOT00000065379 | ENTREZGENE | |
ENSRNOT00000065379.4 | UniProtKB/TrEMBL | |
ENSRNOT00000094837.1 | UniProtKB/TrEMBL | |
ENSRNOT00055047130 | UniProtKB/Swiss-Prot | |
ENSRNOT00060026512 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | Helical hairpin bin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
InterPro | Band3_cytoplasmic_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
HCO3_transpt_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
HCO3_transpt_euk | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Na/HCO3_transpt | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PTrfase/Anion_transptr | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:315311 | UniProtKB/Swiss-Prot |
NCBI Gene | 315311 | ENTREZGENE |
PANTHER | ELECTRONEUTRAL SODIUM BICARBONATE EXCHANGER 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR11453 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Band_3_cyto | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
HCO3_cotransp | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Slc4a8 | PhenoGen |
PRINTS | HCO3TRNSPORT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NAHCO3TRSPRT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RatGTEx | ENSRNOG00000028879 | RatGTEx |
ENSRNOG00055027151 | RatGTEx | |
ENSRNOG00060015352 | RatGTEx | |
Superfamily-SCOP | SSF55804 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A8I6GM95_RAT | UniProtKB/TrEMBL |
A0A8L2QRW9 | ENTREZGENE, UniProtKB/TrEMBL | |
A6KCL9_RAT | UniProtKB/TrEMBL | |
A6KCM0 | ENTREZGENE, UniProtKB/TrEMBL | |
F1LUB7 | ENTREZGENE | |
Q6RVG1 | ENTREZGENE | |
Q6RVG2 | ENTREZGENE | |
Q6RVG3 | ENTREZGENE | |
S4A8_RAT | UniProtKB/Swiss-Prot | |
UniProt Secondary | F1LUB7 | UniProtKB/Swiss-Prot |
Q6RVG1 | UniProtKB/Swiss-Prot | |
Q6RVG3 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2016-03-09 | Slc4a8 | solute carrier family 4 member 8 | Slc4a8 | solute carrier family 4, sodium bicarbonate cotransporter, member 8 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2011-02-23 | Slc4a8 | solute carrier family 4, sodium bicarbonate cotransporter, member 8 | Slc4a8 | solute carrier family 4 (anion exchanger), member 8 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2005-07-08 | Slc4a8 | solute carrier family 4 (anion exchanger), member 8 | LOC315311 | Na-driven Cl-HCO3 exchanger NDCBE1-A | Symbol and Name updated | 1299863 | APPROVED |