SLC23A2 (solute carrier family 23 member 2) - Rat Genome Database

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Gene: SLC23A2 (solute carrier family 23 member 2) Homo sapiens
Analyze
Symbol: SLC23A2
Name: solute carrier family 23 member 2
RGD ID: 1353786
HGNC Page HGNC
Description: Enables L-ascorbate:sodium symporter activity and L-ascorbic acid transmembrane transporter activity. Involved in L-ascorbic acid transmembrane transport and transepithelial L-ascorbic acid transport. Located in apical plasma membrane and basolateral plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: hSVCT2; KIAA0238; Na(+)/L-ascorbic acid transporter 2; NBTL1; nucleobase transporter-like 1 protein; SLC23A1; sodium-dependent vitamin C transporter 2; sodium-dependent vitamin C transporter-2; solute carrier family 23 (ascorbic acid transporter), member 2; solute carrier family 23 (nucleobase transporters), member 1; solute carrier family 23 (nucleobase transporters), member 2; SVCT2; testicular secretory protein Li 48; yolk sac permease-like molecule 2; YSPL2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl204,852,356 - 5,010,293 (-)EnsemblGRCh38hg38GRCh38
GRCh38204,852,358 - 5,010,313 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37204,833,004 - 4,990,959 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36204,781,002 - 4,938,939 (-)NCBINCBI36hg18NCBI36
Build 34204,781,001 - 4,938,939NCBI
Celera204,902,706 - 5,051,861 (-)NCBI
Cytogenetic Map20p13NCBI
HuRef204,787,194 - 4,944,817 (-)NCBIHuRef
CHM1_1204,834,496 - 4,992,439 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
aflatoxin B2  (EXP)
aldehydo-D-glucosamine  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-D-glucosamine  (ISO)
bilirubin IXalpha  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
butanal  (EXP)
calcium atom  (ISO)
calcium(0)  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chloroprene  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
cortisol  (EXP)
cyclosporin A  (EXP)
cyproconazole  (ISO)
dexamethasone  (EXP)
dichloroacetic acid  (ISO)
diclofenac  (EXP)
dicrotophos  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
flutamide  (ISO)
folic acid  (ISO)
furan  (ISO)
genistein  (EXP)
graphite  (ISO)
hexadecanoic acid  (EXP)
hypochlorous acid  (ISO)
indometacin  (EXP)
iron atom  (ISO)
iron(0)  (ISO)
L-ascorbic acid  (EXP,ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
leflunomide  (EXP)
levetiracetam  (ISO)
morphine  (ISO)
nickel sulfate  (EXP)
nifedipine  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
phenobarbital  (ISO)
phosphonoformic acid  (ISO)
pirinixic acid  (ISO)
progesterone  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
rifampicin  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium dodecyl sulfate  (EXP)
sunitinib  (EXP)
taurocholic acid  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
troglitazone  (ISO)
tunicamycin  (ISO)
ursodeoxycholic acid  (EXP)
valproic acid  (EXP,ISO)
zidovudine  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:9039502   PMID:9804989   PMID:10395795   PMID:10471399   PMID:10556521   PMID:10631088   PMID:10748165   PMID:10915794   PMID:11396616   PMID:11780052   PMID:11984580   PMID:12168954  
PMID:12477932   PMID:14993613   PMID:15060139   PMID:15340249   PMID:15489334   PMID:15921655   PMID:15993839   PMID:16380174   PMID:17012227   PMID:17092984   PMID:17291984   PMID:17664139  
PMID:18247577   PMID:18417304   PMID:18614995   PMID:18619416   PMID:18636124   PMID:18676680   PMID:18791929   PMID:18845575   PMID:19162177   PMID:19170196   PMID:19216494   PMID:19232538  
PMID:19243932   PMID:19346260   PMID:19625176   PMID:19692168   PMID:19926816   PMID:19953087   PMID:20379614   PMID:20453000   PMID:20471816   PMID:20588054   PMID:21335086   PMID:21733302  
PMID:21770893   PMID:21873635   PMID:21988832   PMID:22171153   PMID:22348976   PMID:22990596   PMID:23288661   PMID:23401652   PMID:23613229   PMID:23837633   PMID:23990905   PMID:23999113  
PMID:24401033   PMID:24594434   PMID:24815519   PMID:25102111   PMID:25242204   PMID:25645015   PMID:25821969   PMID:26186194   PMID:26188149   PMID:26646539   PMID:26838684   PMID:27012422  
PMID:27932501   PMID:28385602   PMID:29507755   PMID:29545069   PMID:30021884   PMID:30194290   PMID:30902760   PMID:32296183   PMID:32319585   PMID:33484802   PMID:33580460   PMID:33845483  


Genomics

Comparative Map Data
SLC23A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl204,852,356 - 5,010,293 (-)EnsemblGRCh38hg38GRCh38
GRCh38204,852,358 - 5,010,313 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37204,833,004 - 4,990,959 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36204,781,002 - 4,938,939 (-)NCBINCBI36hg18NCBI36
Build 34204,781,001 - 4,938,939NCBI
Celera204,902,706 - 5,051,861 (-)NCBI
Cytogenetic Map20p13NCBI
HuRef204,787,194 - 4,944,817 (-)NCBIHuRef
CHM1_1204,834,496 - 4,992,439 (-)NCBICHM1_1
Slc23a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392131,894,416 - 131,987,240 (-)NCBIGRCm39mm39
GRCm39 Ensembl2131,894,416 - 131,987,028 (-)Ensembl
GRCm382132,052,496 - 132,145,320 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2132,052,496 - 132,145,108 (-)EnsemblGRCm38mm10GRCm38
MGSCv372131,878,232 - 131,970,844 (-)NCBIGRCm37mm9NCBIm37
MGSCv362131,743,937 - 131,836,549 (-)NCBImm8
Celera2133,279,011 - 133,328,217 (-)NCBICelera
Cytogenetic Map2F2NCBI
Slc23a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23119,302,651 - 119,395,289 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl3119,302,666 - 119,460,343 (-)Ensembl
Rnor_6.03124,632,491 - 124,842,225 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3124,632,492 - 124,724,252 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03131,132,124 - 131,266,028 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43119,796,376 - 119,886,011 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.13119,701,948 - 119,791,584 (-)NCBI
Celera3118,102,047 - 118,150,099 (-)NCBICelera
Cytogenetic Map3q36NCBI
Slc23a2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541515,565,249 - 15,642,153 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541515,565,344 - 15,677,935 (-)NCBIChiLan1.0ChiLan1.0
SLC23A2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1204,670,294 - 4,790,800 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl204,670,294 - 4,790,800 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0204,874,185 - 5,024,750 (-)NCBIMhudiblu_PPA_v0panPan3
SLC23A2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12416,573,616 - 16,709,296 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2416,574,168 - 16,709,296 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2416,425,818 - 16,531,856 (+)NCBI
ROS_Cfam_1.02416,981,643 - 17,127,359 (+)NCBI
UMICH_Zoey_3.12416,613,514 - 16,719,979 (+)NCBI
UNSW_CanFamBas_1.02416,720,357 - 16,826,526 (+)NCBI
UU_Cfam_GSD_1.02417,054,182 - 17,160,266 (+)NCBI
Slc23a2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640165,431,608 - 165,545,259 (+)NCBI
SpeTri2.0NW_00493648513,885,067 - 13,976,623 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC23A2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1713,848,726 - 14,011,700 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11713,848,726 - 14,012,054 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21714,819,223 - 14,825,302 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC23A2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1233,092,619 - 33,209,258 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl233,128,061 - 33,212,255 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607111,323,229 - 11,470,263 (-)NCBIVero_WHO_p1.0
Slc23a2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247415,917,620 - 6,050,922 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
Z94337  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37204,932,865 - 4,932,984UniSTSGRCh37
Build 36204,880,865 - 4,880,984RGDNCBI36
Celera205,002,559 - 5,002,678RGD
Cytogenetic Map20p13UniSTS
HuRef204,886,798 - 4,886,917UniSTS
T03153  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37204,833,305 - 4,833,515UniSTSGRCh37
Build 36204,781,305 - 4,781,515RGDNCBI36
Celera204,903,009 - 4,903,219RGD
Cytogenetic Map20p13UniSTS
HuRef204,787,497 - 4,787,707UniSTS
Whitehead-YAC Contig Map20 UniSTS
RH118444  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37204,879,596 - 4,879,910UniSTSGRCh37
Build 36204,827,596 - 4,827,910RGDNCBI36
Celera204,949,307 - 4,949,621RGD
Cytogenetic Map20p13UniSTS
HuRef204,833,792 - 4,834,106UniSTS
TNG Radiation Hybrid Map203069.0UniSTS
SHGC-110394  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37204,849,158 - 4,849,454UniSTSGRCh37
Build 36204,797,158 - 4,797,454RGDNCBI36
Celera204,918,863 - 4,919,159RGD
Cytogenetic Map20p13UniSTS
HuRef204,803,343 - 4,803,639UniSTS
TNG Radiation Hybrid Map203094.0UniSTS
SHGC-147858  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37204,907,209 - 4,907,509UniSTSGRCh37
Build 36204,855,209 - 4,855,509RGDNCBI36
Celera204,976,903 - 4,977,203RGD
Cytogenetic Map20p13UniSTS
HuRef204,861,141 - 4,861,441UniSTS
TNG Radiation Hybrid Map203041.0UniSTS
SHGC-149645  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37204,854,349 - 4,854,660UniSTSGRCh37
Build 36204,802,349 - 4,802,660RGDNCBI36
Celera204,924,054 - 4,924,365RGD
Cytogenetic Map20p13UniSTS
HuRef204,808,533 - 4,808,844UniSTS
TNG Radiation Hybrid Map203082.0UniSTS
SLC23A2_2187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37204,835,693 - 4,836,505UniSTSGRCh37
Build 36204,783,693 - 4,784,505RGDNCBI36
Celera204,905,397 - 4,906,209RGD
HuRef204,789,885 - 4,790,697UniSTS
Z94315  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37204,894,033 - 4,894,153UniSTSGRCh37
Build 36204,842,033 - 4,842,153RGDNCBI36
Celera204,963,727 - 4,963,847RGD
Cytogenetic Map20p13UniSTS
HuRef204,847,964 - 4,848,084UniSTS
RH47957  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37204,907,217 - 4,907,371UniSTSGRCh37
Build 36204,855,217 - 4,855,371RGDNCBI36
Celera204,976,911 - 4,977,065RGD
Cytogenetic Map20p13UniSTS
HuRef204,861,149 - 4,861,303UniSTS
GeneMap99-GB4 RH Map2028.85UniSTS
NCBI RH Map2040.4UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4589
Count of miRNA genes:1127
Interacting mature miRNAs:1405
Transcripts:ENST00000338244, ENST00000379333, ENST00000423430, ENST00000424750, ENST00000468355, ENST00000496331
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

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 sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1845 1514 1681 477 1039 428 3226 851 3546 245 1335 1569 63 1092 1831 3
Low 589 1469 45 146 908 36 1130 1344 188 173 121 43 111 1 112 957 3 1
Below cutoff 3 5 4 1 1 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_203327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB075494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF058319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF092511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF164142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI742576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ269478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ292318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL109841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL389886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY380556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ011866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF032501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000338244   ⟹   ENSP00000344322
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl204,852,358 - 5,001,510 (-)Ensembl
RefSeq Acc Id: ENST00000379333   ⟹   ENSP00000368637
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl204,852,356 - 5,010,293 (-)Ensembl
RefSeq Acc Id: ENST00000423430   ⟹   ENSP00000396364
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl204,859,367 - 4,899,647 (-)Ensembl
RefSeq Acc Id: ENST00000468355
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl204,869,588 - 5,010,270 (-)Ensembl
RefSeq Acc Id: ENST00000496331
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl204,873,877 - 4,885,991 (-)Ensembl
RefSeq Acc Id: NM_005116   ⟹   NP_005107
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38204,852,358 - 5,001,510 (-)NCBI
GRCh37204,833,002 - 4,990,939 (-)NCBI
Build 36204,781,002 - 4,930,145 (-)NCBI Archive
HuRef204,787,194 - 4,944,817 (-)NCBI
CHM1_1204,834,496 - 4,983,645 (-)NCBI
Sequence:
RefSeq Acc Id: NM_203327   ⟹   NP_976072
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38204,852,358 - 5,010,313 (-)NCBI
GRCh37204,833,002 - 4,990,939 (-)NCBI
Build 36204,781,002 - 4,938,939 (-)NCBI Archive
HuRef204,787,194 - 4,944,817 (-)NCBI
CHM1_1204,834,496 - 4,992,439 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005107   ⟸   NM_005116
- UniProtKB: Q9UGH3 (UniProtKB/Swiss-Prot),   A0A140VK48 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_976072   ⟸   NM_203327
- UniProtKB: Q9UGH3 (UniProtKB/Swiss-Prot),   A0A140VK48 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000396364   ⟸   ENST00000423430
RefSeq Acc Id: ENSP00000344322   ⟸   ENST00000338244
RefSeq Acc Id: ENSP00000368637   ⟸   ENST00000379333

Promoters
RGD ID:6799081
Promoter ID:HG_KWN:38484
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_005116,   UC002WLJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36204,929,831 - 4,930,331 (-)MPROMDB
RGD ID:13206289
Promoter ID:EPDNEW_H26727
Type:multiple initiation site
Name:SLC23A2_3
Description:solute carrier family 23 member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26728  EPDNEW_H26729  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38204,949,963 - 4,950,023EPDNEW
RGD ID:13206295
Promoter ID:EPDNEW_H26728
Type:initiation region
Name:SLC23A2_1
Description:solute carrier family 23 member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26727  EPDNEW_H26729  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38205,001,502 - 5,001,562EPDNEW
RGD ID:13206297
Promoter ID:EPDNEW_H26729
Type:multiple initiation site
Name:SLC23A2_2
Description:solute carrier family 23 member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26727  EPDNEW_H26728  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38205,010,313 - 5,010,373EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 copy number gain See cases [RCV000051227] Chr20:89939..25697564 [GRCh38]
Chr20:70580..25678200 [GRCh37]
Chr20:18580..25626200 [NCBI36]
Chr20:20p13-11.21
pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3 copy number gain See cases [RCV000051041] Chr20:89939..19146279 [GRCh38]
Chr20:70580..19126923 [GRCh37]
Chr20:18580..19074923 [NCBI36]
Chr20:20p13-11.23
pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3 copy number gain See cases [RCV000052995] Chr20:89939..19071495 [GRCh38]
Chr20:70580..19052139 [GRCh37]
Chr20:18580..19000139 [NCBI36]
Chr20:20p13-11.23
pathogenic
GRCh38/hg38 20p13-11.22(chr20:89939-21787252)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|See cases [RCV000052996] Chr20:89939..21787252 [GRCh38]
Chr20:70580..21767890 [GRCh37]
Chr20:18580..21715890 [NCBI36]
Chr20:20p13-11.22
pathogenic
GRCh38/hg38 20p13-12.1(chr20:89939-14818511)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|See cases [RCV000052997] Chr20:89939..14818511 [GRCh38]
Chr20:70580..14799157 [GRCh37]
Chr20:18580..14747157 [NCBI36]
Chr20:20p13-12.1
pathogenic
GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3 copy number gain See cases [RCV000133996] Chr20:80106..30227427 [GRCh38]
Chr20:60747..29462103 [GRCh37]
Chr20:8747..28075764 [NCBI36]
Chr20:20p13-q11.1
pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33
pathogenic
GRCh38/hg38 20p13(chr20:4594991-5050271)x3 copy number gain See cases [RCV000135607] Chr20:4594991..5050271 [GRCh38]
Chr20:4575637..5030917 [GRCh37]
Chr20:4523637..4978917 [NCBI36]
Chr20:20p13
uncertain significance
GRCh38/hg38 20p13-12.3(chr20:4343033-6911730)x1 copy number loss See cases [RCV000137695] Chr20:4343033..6911730 [GRCh38]
Chr20:4323680..6892377 [GRCh37]
Chr20:4271680..6840377 [NCBI36]
Chr20:20p13-12.3
pathogenic
GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3 copy number gain See cases [RCV000138677] Chr20:80106..13029401 [GRCh38]
Chr20:60747..13010049 [GRCh37]
Chr20:8747..12958049 [NCBI36]
Chr20:20p13-12.1
pathogenic
GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3 copy number gain See cases [RCV000139597] Chr20:80093..6386012 [GRCh38]
Chr20:60734..6366659 [GRCh37]
Chr20:8734..6314659 [NCBI36]
Chr20:20p13-12.3
pathogenic
GRCh38/hg38 20p13-12.3(chr20:4926195-5543771)x3 copy number gain See cases [RCV000139625] Chr20:4926195..5543771 [GRCh38]
Chr20:4906841..5524417 [GRCh37]
Chr20:4854841..5472417 [NCBI36]
Chr20:20p13-12.3
uncertain significance
GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3 copy number gain See cases [RCV000141348] Chr20:84402..6159078 [GRCh38]
Chr20:65043..6139725 [GRCh37]
Chr20:13043..6087725 [NCBI36]
Chr20:20p13-12.3
pathogenic
GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3 copy number gain See cases [RCV000142017] Chr20:80927..26324843 [GRCh38]
Chr20:61568..26305479 [GRCh37]
Chr20:9568..26253479 [NCBI36]
Chr20:20p13-11.1
pathogenic
GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3 copy number gain See cases [RCV000142285] Chr20:80927..5447679 [GRCh38]
Chr20:61568..5428325 [GRCh37]
Chr20:9568..5376325 [NCBI36]
Chr20:20p13-12.3
uncertain significance
GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3 copy number gain See cases [RCV000142917] Chr20:1269303..8626911 [GRCh38]
Chr20:1249947..8607558 [GRCh37]
Chr20:1197947..8555558 [NCBI36]
Chr20:20p13-12.3
pathogenic
GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3 copy number gain See cases [RCV000143426] Chr20:80928..18688031 [GRCh38]
Chr20:61569..18668675 [GRCh37]
Chr20:9569..18616675 [NCBI36]
Chr20:20p13-11.23
pathogenic
GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3 copy number gain See cases [RCV000239772] Chr20:121521..5564937 [GRCh37]
Chr20:20p13-12.3
pathogenic
GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3 copy number gain See cases [RCV000239954] Chr20:80198..26075841 [GRCh37]
Chr20:20p13-11.1
pathogenic
GRCh37/hg19 20p13(chr20:61568-4914872)x3 copy number gain See cases [RCV000446883] Chr20:61568..4914872 [GRCh37]
Chr20:20p13
pathogenic
GRCh37/hg19 20p13-12.1(chr20:4392930-12667768)x1 copy number loss See cases [RCV000446718] Chr20:4392930..12667768 [GRCh37]
Chr20:20p13-12.1
pathogenic
GRCh37/hg19 20p13(chr20:4931970-4972088) copy number loss Abnormality of esophagus morphology [RCV000416906] Chr20:4931970..4972088 [GRCh37]
Chr20:20p13
likely benign
GRCh37/hg19 20p13(chr20:61568-4904599)x3 copy number gain See cases [RCV000448397] Chr20:61568..4904599 [GRCh37]
Chr20:20p13
pathogenic
GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3 copy number gain not provided [RCV000487461] Chr20:80198..26208081 [GRCh37]
Chr20:20p13-q11.21
pathogenic
GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3 copy number gain See cases [RCV000510531] Chr20:213423..5483406 [GRCh37]
Chr20:20p13-12.3
uncertain significance
GRCh37/hg19 20p13-12.3(chr20:2463101-8185680)x1 copy number loss See cases [RCV000511897] Chr20:2463101..8185680 [GRCh37]
Chr20:20p13-12.3
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3 copy number gain See cases [RCV000512556] Chr20:61568..10486106 [GRCh37]
Chr20:20p13-12.2
likely pathogenic
GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1 copy number loss not provided [RCV000684134] Chr20:3092739..17091453 [GRCh37]
Chr20:20p13-12.1
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13(chr20:4822040-4855759)x3 copy number gain not provided [RCV000741079] Chr20:4822040..4855759 [GRCh37]
Chr20:20p13
benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_005116.6(SLC23A2):c.1158C>T (p.Ala386=) single nucleotide variant not provided [RCV000967547] Chr20:4869998 [GRCh38]
Chr20:4850644 [GRCh37]
Chr20:20p13
benign
NM_005116.6(SLC23A2):c.1233C>A (p.Pro411=) single nucleotide variant not provided [RCV000927027] Chr20:4869923 [GRCh38]
Chr20:4850569 [GRCh37]
Chr20:20p13
likely benign
NM_005116.6(SLC23A2):c.139G>A (p.Gly47Ser) single nucleotide variant not provided [RCV000902073] Chr20:4912948 [GRCh38]
Chr20:4893594 [GRCh37]
Chr20:20p13
likely benign
NM_005116.6(SLC23A2):c.482+10G>A single nucleotide variant not provided [RCV000974401] Chr20:4899545 [GRCh38]
Chr20:4880191 [GRCh37]
Chr20:20p13
benign
NM_005116.6(SLC23A2):c.1080G>T (p.Pro360=) single nucleotide variant not provided [RCV000961675] Chr20:4873958 [GRCh38]
Chr20:4854604 [GRCh37]
Chr20:20p13
benign
NM_005116.6(SLC23A2):c.174G>A (p.Ala58=) single nucleotide variant not provided [RCV000974454] Chr20:4912913 [GRCh38]
Chr20:4893559 [GRCh37]
Chr20:20p13
benign
NM_005116.6(SLC23A2):c.858C>T (p.Tyr286=) single nucleotide variant not provided [RCV000957747] Chr20:4874663 [GRCh38]
Chr20:4855309 [GRCh37]
Chr20:20p13
benign
NM_005116.6(SLC23A2):c.786G>A (p.Ala262=) single nucleotide variant not provided [RCV000911106] Chr20:4883680 [GRCh38]
Chr20:4864326 [GRCh37]
Chr20:20p13
benign
GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3 copy number gain not provided [RCV001007068] Chr20:61568..26305479 [GRCh37]
Chr20:20p13-11.1
pathogenic
GRCh37/hg19 20p13(chr20:3092739-4939933)x3 copy number gain not provided [RCV001258903] Chr20:3092739..4939933 [GRCh37]
Chr20:20p13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10973 AgrOrtholog
COSMIC SLC23A2 COSMIC
Ensembl Genes ENSG00000089057 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000344322 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000368637 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000396364 UniProtKB/TrEMBL
Ensembl Transcript ENST00000338244 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000379333 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000423430 UniProtKB/TrEMBL
GTEx ENSG00000089057 GTEx
HGNC ID HGNC:10973 ENTREZGENE
Human Proteome Map SLC23A2 Human Proteome Map
InterPro SlC23A2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Xan_ur_permease UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Xant/urac/vitC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9962 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9962 ENTREZGENE
OMIM 603791 OMIM
PANTHER PTHR11119:SF33 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Xan_ur_permease UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35849 PharmGKB
PROSITE XANTH_URACIL_PERMASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VK48 ENTREZGENE, UniProtKB/TrEMBL
  D3DVZ8_HUMAN UniProtKB/TrEMBL
  H0Y544_HUMAN UniProtKB/TrEMBL
  Q4ZGM1_HUMAN UniProtKB/TrEMBL
  Q9UGH3 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4DJZ1 UniProtKB/Swiss-Prot
  Q8WWR4 UniProtKB/Swiss-Prot
  Q92512 UniProtKB/Swiss-Prot
  Q96D54 UniProtKB/Swiss-Prot
  Q9UNU1 UniProtKB/Swiss-Prot
  Q9UP85 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-08 SLC23A2  solute carrier family 23 member 2  SLC23A2  solute carrier family 23 (ascorbic acid transporter), member 2  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC23A2  solute carrier family 23 (ascorbic acid transporter), member 2  SLC23A2  solute carrier family 23 (nucleobase transporters), member 2  Symbol and/or name change 5135510 APPROVED