SLC5A8 (solute carrier family 5 member 8) - Rat Genome Database

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Gene: SLC5A8 (solute carrier family 5 member 8) Homo sapiens
Analyze
Symbol: SLC5A8
Name: solute carrier family 5 member 8
RGD ID: 1352176
HGNC Page HGNC:19119
Description: Enables monocarboxylate:sodium symporter activity. Involved in monoatomic anion transport; monocarboxylic acid transport; and nitrate transmembrane transport. Located in apical plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AIT; apical iodide transporter; electrogenic sodium monocarboxylate cotransporter; MGC125354; SMCT; SMCT1; sodium iodide-related cotransporter; sodium-coupled monocarboxylate transporter 1; solute carrier family 5 (iodide transporter), member 8; solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812101,155,493 - 101,210,238 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12101,155,493 - 101,210,238 (-)EnsemblGRCh38hg38GRCh38
GRCh3712101,549,271 - 101,604,016 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612100,073,402 - 100,128,120 (-)NCBINCBI36Build 36hg18NCBI36
Build 3412100,051,745 - 100,106,457NCBI
Celera12101,215,310 - 101,269,325 (-)NCBICelera
Cytogenetic Map12q23.1-q23.2NCBI
HuRef1298,610,304 - 98,664,323 (-)NCBIHuRef
CHM1_112101,515,979 - 101,569,971 (-)NCBICHM1_1
T2T-CHM13v2.012101,117,226 - 101,171,943 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SLC5A8HumanColonic Neoplasms  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:15090606 and PMID:16670197
SLC5A8Humanhyperuricemia  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:20589576

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Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SLC5A8Human1,2-dimethylhydrazine decreases expressionISOSlc5a8 (Mus musculus)64804641 and 2-Dimethylhydrazine results in decreased expression of SLC5A8 mRNACTDPMID:22206623
SLC5A8Human17beta-estradiol multiple interactionsISOSlc5a8 (Rattus norvegicus)6480464[Testosterone co-treated with Estradiol] results in increased expression of SLC5A8 mRNACTDPMID:32741896
SLC5A8Human2-hydroxypropanoic acid multiple interactionsEXP 6480464SLC5A8 protein results in increased transport of [Lactic Acid co-treated with Sodium]CTDPMID:15090606
SLC5A8Human3-chloropropane-1,2-diol decreases expressionISOSlc5a8 (Rattus norvegicus)6480464alpha-Chlorohydrin results in decreased expression of SLC5A8 proteinCTDPMID:34915118
SLC5A8Human4,4'-diaminodiphenylmethane increases expressionISOSlc5a8 (Mus musculus)64804644 and 4'-diaminodiphenylmethane results in increased expression of SLC5A8 mRNACTDPMID:18648102
SLC5A8Human5-aza-2'-deoxycytidine multiple interactionsEXP 6480464[Decitabine affects the methylation of SLC5A8 gene] which affects the expression of SLC5A8 mRNACTDPMID:18559491
SLC5A8Humanacrolein decreases expressionISOSlc5a8 (Rattus norvegicus)6480464Acrolein results in decreased expression of SLC5A8 mRNACTDPMID:38090360
SLC5A8Humanamitrole increases expressionISOSlc5a8 (Rattus norvegicus)6480464Amitrole results in increased expression of SLC5A8 mRNACTDPMID:30047161
SLC5A8Humanarsenite(3-) increases methylationEXP 6480464arsenite results in increased methylation of SLC5A8 promoterCTDPMID:23974009
SLC5A8Humanatrazine decreases expressionEXP 6480464Atrazine results in decreased expression of SLC5A8 mRNACTDPMID:22378314
SLC5A8HumanAzoxymethane multiple interactionsISOSlc5a8 (Mus musculus)6480464[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in increased expression of SLC5A8 mRNACTDPMID:29950665
SLC5A8Humanbenzo[a]pyrene increases expressionEXP 6480464Benzo(a)pyrene results in increased expression of SLC5A8 mRNACTDPMID:22316170
SLC5A8Humanbenzo[a]pyrene affects methylationEXP 6480464Benzo(a)pyrene affects the methylation of SLC5A8 exon and Benzo(a)pyrene affects the methylation of SLC5A8 promoterCTDPMID:27901495
SLC5A8Humanbis(2-ethylhexyl) phthalate decreases expressionISOSlc5a8 (Mus musculus)6480464Diethylhexyl Phthalate results in decreased expression of SLC5A8 proteinCTDPMID:36781136
SLC5A8Humanbisphenol A multiple interactionsISOSlc5a8 (Rattus norvegicus)6480464[bisphenol A co-treated with Genistein] results in increased methylation of SLC5A8 geneCTDPMID:28505145
SLC5A8Humanbisphenol A increases expressionISOSlc5a8 (Rattus norvegicus)6480464bisphenol A results in increased expression of SLC5A8 mRNACTDPMID:27257137
SLC5A8Humanbromobenzene increases expressionISOSlc5a8 (Rattus norvegicus)6480464bromobenzene results in increased expression of SLC5A8 mRNACTDPMID:32479839
SLC5A8Humancaffeine increases phosphorylationEXP 6480464Caffeine results in increased phosphorylation of SLC5A8 proteinCTDPMID:35688186
SLC5A8HumanCGP 52608 multiple interactionsEXP 6480464CGP 52608 promotes the reaction [RORA protein binds to SLC5A8 gene]CTDPMID:28238834
SLC5A8Humanciguatoxin CTX1B affects expressionISOSlc5a8 (Mus musculus)6480464Ciguatoxins affects the expression of SLC5A8 mRNACTDPMID:18353800

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Biological Process
1 to 20 of 20 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SLC5A8Humanacetate transport involved_inIDA 150520179 PMID:14966140 and PMID:15090606UniProtPMID:14966140 and PMID:15090606
SLC5A8Humanapoptotic process involved_inIEAUniProtKB-KW:KW-0053150520179 UniProtGO_REF:0000043
SLC5A8Humanchloride transport involved_inIDA 150520179 PMID:19864324UniProtPMID:19864324
SLC5A8Humaniodide transport involved_inIDA 150520179 PMID:12107270 and PMID:19864324UniProtPMID:12107270 and PMID:19864324
SLC5A8Humanlactate transmembrane transport involved_inIEAGO:0015129150520179 GOCGO_REF:0000108
SLC5A8Humanlactate transport involved_inIDA 150520179 PMID:14966140 more ...UniProtPMID:14966140 more ...
SLC5A8Humanmonoatomic ion transport involved_inIEAUniProtKB-KW:KW-0406150520179 UniProtGO_REF:0000043
SLC5A8Humanmonoatomic ion transport involved_inTAS 150520179 ReactomeReactome:R-HSA-425393
SLC5A8Humanmonocarboxylic acid transport acts_upstream_of_or_withinIEAUniProtKB:Q8BYF6 and ensembl:ENSMUSP00000020255150520179 EnsemblGO_REF:0000107
SLC5A8Humannicotinate transport involved_inIDA 150520179 PMID:14966140 more ...UniProtPMID:14966140 more ...
SLC5A8Humannicotinate transport involved_inIEAUniProtKB:Q8BYF6 and ensembl:ENSMUSP00000020255150520179 EnsemblGO_REF:0000107
SLC5A8Humannitrate transmembrane transport involved_inIDA 150520179 PMID:19864324UniProtPMID:19864324
SLC5A8Humanpropanoate transmembrane transport involved_inIBAMGI:2384916 more ...150520179 GO_CentralGO_REF:0000033
SLC5A8Humanpropanoate transmembrane transport acts_upstream_of_or_withinIEAUniProtKB:Q8BYF6 and ensembl:ENSMUSP00000020255150520179 EnsemblGO_REF:0000107
SLC5A8Humanpropanoate transmembrane transport involved_inIDA 150520179 PMID:14966140 more ...UniProtPMID:14966140 more ...
SLC5A8Humanpyruvate transport involved_inIDA 150520179 PMID:14966140 more ...UniProtPMID:14966140 more ...
SLC5A8Humanshort-chain fatty acid transmembrane transport acts_upstream_of_or_withinIEAUniProtKB:Q8BYF6 and ensembl:ENSMUSP00000020255150520179 EnsemblGO_REF:0000107
SLC5A8Humansodium ion transport involved_inIBAPANTHER:PTN000213468 and Slc5a5 (Rattus norvegicus)150520179 GO_CentralGO_REF:0000033
SLC5A8Humansodium ion transport involved_inIEAUniProtKB-KW:KW-0739150520179 UniProtGO_REF:0000043
SLC5A8Humantransmembrane transport involved_inIEAInterPro:IPR001734150520179 InterProGO_REF:0000002
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Cellular Component
1 to 9 of 9 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SLC5A8Humanapical plasma membrane located_inIEAUniProtKB-SubCell:SL-0015150520179 UniProtGO_REF:0000044
SLC5A8Humanapical plasma membrane located_inIEAUniProtKB:Q8BYF6 and ensembl:ENSMUSP00000020255150520179 EnsemblGO_REF:0000107
SLC5A8Humanapical plasma membrane located_inIDA 150520179 PMID:12107270 and PMID:17245649UniProtPMID:12107270 and PMID:17245649
SLC5A8Humanextracellular exosome located_inHDA 150520179 PMID:19056867 and PMID:23533145UniProtPMID:19056867 and PMID:23533145
SLC5A8HumanGINS complex part_ofIEAUniProtKB:Q8BYF6 and ensembl:ENSMUSP00000020255150520179 EnsemblGO_REF:0000107
SLC5A8Humanmembrane located_inIEAInterPro:IPR001734150520179 InterProGO_REF:0000002
SLC5A8Humanmembrane located_inIEAUniProtKB-KW:KW-0472150520179 UniProtGO_REF:0000043
SLC5A8Humanplasma membrane located_inIEAUniProtKB-KW:KW-1003150520179 UniProtGO_REF:0000043
SLC5A8Humanplasma membrane located_inTAS 150520179 ReactomeReactome:R-HSA-429749 and Reactome:R-HSA-429767
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Molecular Function
1 to 13 of 13 rows

  
Object Symbol
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Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SLC5A8Humaniodide channel activity enablesTAS 150520179 ReactomeReactome:R-HSA-429767
SLC5A8Humanlactate transmembrane transporter activity enablesIEAUniProtKB:Q8BYF6 and ensembl:ENSMUSP00000020255150520179 EnsemblGO_REF:0000107
SLC5A8Humanmonocarboxylate:sodium symporter activity enablesIEAUniProtKB:Q8BYF6 and ensembl:ENSMUSP00000020255150520179 EnsemblGO_REF:0000107
SLC5A8Humanmonocarboxylate:sodium symporter activity enablesIDA 150520179 PMID:14966140 more ...UniProtPMID:14966140 more ...
SLC5A8Humanmonocarboxylic acid transmembrane transporter activity enablesTAS 150520179 ReactomeReactome:R-HSA-429749
SLC5A8Humanorganic acid:sodium symporter activity enablesIEAUniProtKB:Q8BYF6 and ensembl:ENSMUSP00000020255150520179 EnsemblGO_REF:0000107
SLC5A8Humanorganic acid:sodium symporter activity enablesIBAMGI:2384916 more ...150520179 GO_CentralGO_REF:0000033
SLC5A8Humanpropionate transmembrane transporter activity enablesIEAUniProtKB:Q8BYF6 and ensembl:ENSMUSP00000020255150520179 EnsemblGO_REF:0000107
SLC5A8Humanprotein binding enablesIPIUniProtKB:Q5T2W1150520179 PMID:30604288UniProtPMID:30604288
SLC5A8Humanshort-chain fatty acid transmembrane transporter activity enablesIEAUniProtKB:Q8BYF6 and ensembl:ENSMUSP00000020255150520179 EnsemblGO_REF:0000107
SLC5A8Humansymporter activity enablesIEAUniProtKB-KW:KW-0769150520179 UniProtGO_REF:0000043
SLC5A8Humantransmembrane transporter activity enablesIEAInterPro:IPR001734150520179 InterProGO_REF:0000002
SLC5A8Humantransmembrane transporter activity enablesIEAARBA:ARBA00028127150520179 UniProtGO_REF:0000117
1 to 13 of 13 rows

RGD Manual Annotations


  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SLC5A8Humannicotinamide adenine dinucleotide metabolic pathway   TAS 11251687 RGD 

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Reference Title
Reference Citation
1. The human NAD metabolome: Functions, metabolism and compartmentalization. Nikiforov A, etal., Crit Rev Biochem Mol Biol. 2015;50(4):284-97. doi: 10.3109/10409238.2015.1028612. Epub 2015 Apr 2.
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
PMID:12107270   PMID:12477932   PMID:12829793   PMID:14966140   PMID:15001644   PMID:15090606   PMID:15322102   PMID:15867356   PMID:16344560   PMID:16375929   PMID:16670197   PMID:16729224  
PMID:16805814   PMID:16858683   PMID:16873376   PMID:17178845   PMID:17245649   PMID:17526579   PMID:17692818   PMID:18037591   PMID:18437076   PMID:18559491   PMID:18566324   PMID:18661192  
PMID:19056867   PMID:19730683   PMID:19864324   PMID:20029986   PMID:20082847   PMID:20211600   PMID:20403997   PMID:20671196   PMID:20965718   PMID:21687703   PMID:21802122   PMID:21873635  
PMID:22450368   PMID:23167260   PMID:23273563   PMID:23533145   PMID:23918800   PMID:25827678   PMID:26285906   PMID:27465549   PMID:27488665   PMID:27801863   PMID:28514442   PMID:29131623  
PMID:29772533   PMID:30604288   PMID:30896789   PMID:31098988   PMID:32017063   PMID:32432731   PMID:32918875   PMID:33961781   PMID:34231393   PMID:34880492   PMID:34964946   PMID:37788672  
PMID:38007446   PMID:38287802  



SLC5A8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812101,155,493 - 101,210,238 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12101,155,493 - 101,210,238 (-)EnsemblGRCh38hg38GRCh38
GRCh3712101,549,271 - 101,604,016 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612100,073,402 - 100,128,120 (-)NCBINCBI36Build 36hg18NCBI36
Build 3412100,051,745 - 100,106,457NCBI
Celera12101,215,310 - 101,269,325 (-)NCBICelera
Cytogenetic Map12q23.1-q23.2NCBI
HuRef1298,610,304 - 98,664,323 (-)NCBIHuRef
CHM1_112101,515,979 - 101,569,971 (-)NCBICHM1_1
T2T-CHM13v2.012101,117,226 - 101,171,943 (-)NCBIT2T-CHM13v2.0
Slc5a8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391088,721,854 - 88,765,377 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1088,721,854 - 88,765,377 (+)EnsemblGRCm39 Ensembl
GRCm381088,885,992 - 88,929,515 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1088,885,992 - 88,929,515 (+)EnsemblGRCm38mm10GRCm38
MGSCv371088,348,737 - 88,392,260 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361088,315,836 - 88,365,884 (+)NCBIMGSCv36mm8
MGSCv361089,074,526 - 89,117,897 (+)NCBIMGSCv36mm8
Celera1090,866,357 - 90,911,145 (+)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1044.34NCBI
Slc5a8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8725,160,280 - 25,201,185 (+)NCBIGRCr8
mRatBN7.2723,272,891 - 23,313,811 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl723,272,427 - 23,314,642 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx725,267,453 - 25,308,367 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0727,429,993 - 27,470,903 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0727,207,192 - 27,248,116 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0729,434,175 - 29,476,807 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl729,435,444 - 29,477,947 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0729,534,554 - 29,578,495 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4725,585,545 - 25,626,486 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera720,428,427 - 20,468,519 (+)NCBICelera
Cytogenetic Map7q13NCBI
Slc5a8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540536,725,892 - 36,769,074 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540536,717,579 - 36,769,074 (-)NCBIChiLan1.0ChiLan1.0
SLC5A8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v210109,218,024 - 109,280,585 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan112109,214,072 - 109,276,983 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01298,735,175 - 98,795,478 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.112102,137,701 - 102,198,184 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12102,137,701 - 102,198,148 (-)Ensemblpanpan1.1panPan2
SLC5A8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11540,176,479 - 40,239,859 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1540,179,872 - 40,239,634 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1540,544,936 - 40,608,134 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01540,830,422 - 40,893,672 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1540,833,812 - 40,893,628 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11540,087,024 - 40,150,008 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01540,194,458 - 40,257,689 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01540,468,399 - 40,531,641 (-)NCBIUU_Cfam_GSD_1.0
Slc5a8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494519,737,204 - 19,784,989 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649212,746,996 - 12,795,421 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649212,747,654 - 12,792,865 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC5A8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl582,973,284 - 83,031,157 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1582,973,179 - 83,088,542 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2587,012,757 - 87,066,769 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC5A8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11196,431,253 - 96,489,267 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1196,431,548 - 96,487,856 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037148,536,549 - 148,593,899 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc5a8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247506,681,142 - 6,729,896 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247506,603,668 - 6,731,219 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in SLC5A8
56 total Variants

1 to 10 of 74 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 12q23.1-23.3(chr12:100670616-108583607)x1 copy number loss See cases [RCV000051320] Chr12:100670616..108583607 [GRCh38]
Chr12:101064394..108977383 [GRCh37]
Chr12:99588525..107501512 [NCBI36]
Chr12:12q23.1-23.3
pathogenic
NM_145913.3(SLC5A8):c.1527-1479C>A single nucleotide variant Lung cancer [RCV000087796] Chr12:101163556 [GRCh38]
Chr12:101557334 [GRCh37]
Chr12:12q23.1
uncertain significance
GRCh38/hg38 12q23.2(chr12:101203029-101486159)x3 copy number gain See cases [RCV000136989] Chr12:101203029..101486159 [GRCh38]
Chr12:101596807..101879937 [GRCh37]
Chr12:100120938..100404068 [NCBI36]
Chr12:12q23.2
benign
GRCh38/hg38 12q23.1-23.2(chr12:97394550-101410225)x3 copy number gain See cases [RCV000137891] Chr12:97394550..101410225 [GRCh38]
Chr12:97788328..101804003 [GRCh37]
Chr12:96312459..100328134 [NCBI36]
Chr12:12q23.1-23.2
likely pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3 copy number gain See cases [RCV000142447] Chr12:91044318..109133210 [GRCh38]
Chr12:91438095..109571015 [GRCh37]
Chr12:89962226..108055398 [NCBI36]
Chr12:12q21.33-24.11
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)x3 copy number gain See cases [RCV000445929] Chr12:100580198..105804075 [GRCh37]
Chr12:12q23.1-23.3
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
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Predicted Target Of
Summary Value
Count of predictions:511
Count of miRNA genes:427
Interacting mature miRNAs:447
Transcripts:ENST00000536262
Prediction methods:Miranda
Result types:miRGate_prediction

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.


1 to 9 of 9 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
1559125SPSL2_HSerum P-selectin level QTL 2 (human)2.59Serum P-selectin level1289897665115897665Human
597021831GWAS1117905_Hinterleukin 2 measurement QTL GWAS1117905 (human)0.000008blood interleukin-2 amount (VT:0008598)12101204232101204233Human
1643258BW205_HBody weight QTL 205 (human)4.080.00001Body fat amountpercent body fat1296630114122630114Human
597166558GWAS1262632_HBMI-adjusted waist-hip ratio QTL GWAS1262632 (human)4e-08body size trait (VT:0100005)12101208325101208326Human
1643264BW195_HBody weight QTL 195 (human)0.0151Body weightBMI1289897665115897665Human
597066539GWAS1162613_Hsusceptibility to shingles measurement QTL GWAS1162613 (human)0.000004susceptibility to shingles measurement12101170056101170057Human
597223669GWAS1319743_HBMI-adjusted waist circumference QTL GWAS1319743 (human)1e-08body size trait (VT:0100005)12101208325101208326Human
1357387BW58_HBody weight QTL 58 (human)2.30.0001Body weightfat free mass after exercise training1289438856115438856Human
1358827MULTSCL22_HMultiple sclerosis susceptibility QTL 22 (human)Multiple sclerosis susceptibility1289897665115897665Human

1 to 9 of 9 rows
SHGC-106056  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712101,582,613 - 101,582,950UniSTSGRCh37
Build 3612100,106,744 - 100,107,081RGDNCBI36
Celera12101,247,929 - 101,248,266RGD
Cytogenetic Map12q23.1UniSTS
HuRef1298,642,929 - 98,643,266UniSTS
TNG Radiation Hybrid Map1250545.0UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
455 1057 1697 825 4251 1323 1721 239 504 86 1482 3059 2377 13 2914 613 1284 1376 153


1 to 19 of 19 rows
RefSeq Transcripts NM_145913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007063055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_944503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC079953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC225709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF536216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF536217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY081220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB229173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 19 of 19 rows

Ensembl Acc Id: ENST00000536262   ⟹   ENSP00000445340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12101,155,493 - 101,210,238 (-)Ensembl
RefSeq Acc Id: NM_145913   ⟹   NP_666018
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,155,493 - 101,210,238 (-)NCBI
GRCh3712101,549,994 - 101,604,016 (-)ENTREZGENE
Build 3612100,073,402 - 100,128,120 (-)NCBI Archive
HuRef1298,610,304 - 98,664,323 (-)ENTREZGENE
CHM1_112101,515,979 - 101,569,971 (-)NCBI
T2T-CHM13v2.012101,117,226 - 101,171,943 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018910   ⟹   XP_016874399
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,166,709 - 101,210,238 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054371292   ⟹   XP_054227267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012101,128,415 - 101,171,943 (-)NCBI
RefSeq Acc Id: XR_007063055
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,158,249 - 101,210,238 (-)NCBI
RefSeq Acc Id: XR_008488548
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012101,119,983 - 101,171,943 (-)NCBI
RefSeq Acc Id: NP_666018   ⟸   NM_145913
- UniProtKB: Q2TB99 (UniProtKB/Swiss-Prot),   Q7Z2H9 (UniProtKB/Swiss-Prot),   Q8N695 (UniProtKB/Swiss-Prot),   B2R9H8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016874399   ⟸   XM_017018910
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000445340   ⟸   ENST00000536262
RefSeq Acc Id: XP_054227267   ⟸   XM_054371292
- Peptide Label: isoform X1

Name Modeler Protein Id AA Range Protein Structure
AF-Q8N695-F1-model_v2 AlphaFold Q8N695 1-610 view protein structure

RGD ID:7225159
Promoter ID:EPDNEW_H18325
Type:initiation region
Name:SLC5A8_1
Description:solute carrier family 5 member 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,210,238 - 101,210,298EPDNEW


1 to 29 of 29 rows
Database
Acc Id
Source(s)
COSMIC SLC5A8 COSMIC
Ensembl Genes ENSG00000256870 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000262217 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000536262 ENTREZGENE
  ENST00000536262.3 UniProtKB/Swiss-Prot
  ENST00000572861.3 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1730.10 UniProtKB/Swiss-Prot
GTEx ENSG00000256870 GTEx
  ENSG00000262217 GTEx
HGNC ID HGNC:19119 ENTREZGENE
Human Proteome Map SLC5A8 Human Proteome Map
InterPro Na/Glc_symporter_sf UniProtKB/Swiss-Prot
  Na/solute_symporter UniProtKB/Swiss-Prot
  SLC5sbd_SMCT1 UniProtKB/Swiss-Prot
  Sodium:Solute_Symporter_SSF UniProtKB/Swiss-Prot
KEGG Report hsa:160728 UniProtKB/Swiss-Prot
NCBI Gene 160728 ENTREZGENE
OMIM 608044 OMIM
PANTHER SODIUM-COUPLED MONOCARBOXYLATE TRANSPORTER UniProtKB/Swiss-Prot
  SODIUM-COUPLED MONOCARBOXYLATE TRANSPORTER 1 UniProtKB/Swiss-Prot
Pfam SSF UniProtKB/Swiss-Prot
PharmGKB PA134989874 PharmGKB
PROSITE NA_SOLUT_SYMP_3 UniProtKB/Swiss-Prot
UniProt B2R9H8 ENTREZGENE, UniProtKB/TrEMBL
  Q2TB99 ENTREZGENE
  Q7Z2H9 ENTREZGENE
  Q8N695 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q2TB99 UniProtKB/Swiss-Prot
  Q7Z2H9 UniProtKB/Swiss-Prot
1 to 29 of 29 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC5A8  solute carrier family 5 member 8  SLC5A8  solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC5A8  solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8  SLC5A8  solute carrier family 5 (iodide transporter), member 8  Symbol and/or name change 5135510 APPROVED