SLC5A3 (solute carrier family 5 member 3) - Rat Genome Database

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Gene: SLC5A3 (solute carrier family 5 member 3) Homo sapiens
Analyze
Symbol: SLC5A3
Name: solute carrier family 5 member 3
RGD ID: 734339
HGNC Page HGNC:11038
Description: Enables myo-inositol:sodium symporter activity; potassium channel regulator activity; and transmembrane transporter binding activity. Predicted to be involved in inositol metabolic process; monosaccharide transmembrane transport; and myo-inositol import across plasma membrane. Predicted to act upstream of or within several processes, including positive regulation of protein localization to membrane; positive regulation of reactive oxygen species biosynthetic process; and regulation of respiratory gaseous exchange. Located in perinuclear region of cytoplasm and plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: BCW2; human solute carrier family 5, member 3, Sodium/myo-inositol cotransporter; Na(+)/myo-inositol cotransporter; SMIT; SMIT1; SMIT2; sodium/myo-inositol cotransporter; sodium/myo-inositol cotransporter 1; sodium/myo-inositol transporter 1; solute carrier family 5 (inositol transporter), member 3; solute carrier family 5 (inositol transporters), member 3; solute carrier family 5 (sodium/myo-inositol cotransporter), member 3
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
GRCh382134,073,578 - 34,106,260 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2134,073,578 - 34,106,260 (+)EnsemblGRCh38hg38GRCh38
GRCh372135,445,878 - 35,478,559 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362134,367,740 - 34,400,431 (+)NCBINCBI36Build 36hg18NCBI36
Build 342134,389,367 - 34,391,524NCBI
Celera2120,645,433 - 20,678,122 (+)NCBICelera
Cytogenetic Map21q22.11NCBI
HuRef2120,945,609 - 20,957,018 (+)NCBIHuRef
CHM1_12135,008,142 - 35,040,833 (+)NCBICHM1_1
T2T-CHM13v2.02132,455,648 - 32,488,333 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP)
aflatoxin B1  (ISO)
aflatoxin M1  (EXP)
allopurinol  (ISO)
amiodarone  (EXP)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
avobenzone  (EXP)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
carbamazepine  (EXP)
cefaloridine  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
cocaine  (ISO)
coumestrol  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
dimethylarsinic acid  (ISO)
diprotium oxide  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
ethanol  (EXP,ISO)
folic acid  (ISO)
genistein  (ISO)
glyphosate  (ISO)
heparin  (ISO)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
Indeno[1,2,3-cd]pyrene  (ISO)
inositol  (ISO)
ketamine  (ISO)
lipopolysaccharide  (ISO)
lithium chloride  (EXP)
medroxyprogesterone acetate  (EXP)
methamphetamine  (ISO)
methylarsonic acid  (ISO)
myxothiazol  (ISO)
N1'-[2-[[5-[(dimethylamino)methyl]-2-furanyl]methylthio]ethyl]-N1-methyl-2-nitroethene-1,1-diamine  (ISO)
naphthalenes  (ISO)
oxaliplatin  (ISO)
paracetamol  (EXP,ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
piroxicam  (EXP)
poly(vinylpyrrolidone)  (ISO)
potassium chromate  (EXP)
potassium dichromate  (ISO)
progesterone  (EXP)
quercetin  (EXP)
ranitidine  (ISO)
SB 431542  (EXP)
SCH 23390  (ISO)
silicon dioxide  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
sodium chloride  (ISO)
succimer  (ISO)
sunitinib  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thimerosal  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)
water  (ISO)
zidovudine  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1372904   PMID:7789985   PMID:8646889   PMID:9441750   PMID:9612208   PMID:9685419   PMID:10830953   PMID:14702039   PMID:15342556   PMID:16344560   PMID:17178845   PMID:19032932  
PMID:19198609   PMID:19738201   PMID:20738937   PMID:20971364   PMID:21565611   PMID:21873635   PMID:22810586   PMID:23207989   PMID:24595108   PMID:24944204   PMID:25756525   PMID:26186194  
PMID:26590417   PMID:26638075   PMID:27217553   PMID:28128227   PMID:28514442   PMID:28692057   PMID:28793216   PMID:29117863   PMID:29507755   PMID:30194290   PMID:30280653   PMID:31615875  
PMID:32235474   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34709727   PMID:35760803   PMID:37324953  


Genomics

Comparative Map Data
SLC5A3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382134,073,578 - 34,106,260 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2134,073,578 - 34,106,260 (+)EnsemblGRCh38hg38GRCh38
GRCh372135,445,878 - 35,478,559 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362134,367,740 - 34,400,431 (+)NCBINCBI36Build 36hg18NCBI36
Build 342134,389,367 - 34,391,524NCBI
Celera2120,645,433 - 20,678,122 (+)NCBICelera
Cytogenetic Map21q22.11NCBI
HuRef2120,945,609 - 20,957,018 (+)NCBIHuRef
CHM1_12135,008,142 - 35,040,833 (+)NCBICHM1_1
T2T-CHM13v2.02132,455,648 - 32,488,333 (+)NCBIT2T-CHM13v2.0
Slc5a3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391691,855,210 - 91,884,361 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1691,855,210 - 91,884,361 (+)EnsemblGRCm39 Ensembl
GRCm381692,058,322 - 92,087,473 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1692,058,322 - 92,087,473 (+)EnsemblGRCm38mm10GRCm38
MGSCv371692,058,567 - 92,087,718 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361691,965,916 - 91,968,072 (+)NCBIMGSCv36mm8
Celera1693,161,374 - 93,172,132 (+)NCBICelera
Cytogenetic Map16C4NCBI
cM Map1653.44NCBI
Slc5a3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81144,799,787 - 44,802,233 (+)NCBIGRCr8
mRatBN7.21131,313,847 - 31,316,293 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1131,295,476 - 31,318,883 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1140,008,115 - 40,010,560 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01132,679,563 - 32,682,008 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01131,843,057 - 31,845,503 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01132,229,366 - 32,231,812 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01135,834,279 - 35,836,725 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41132,063,275 - 32,065,721 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11132,119,576 - 32,121,733 (+)NCBI
Celera1130,970,690 - 30,973,136 (+)NCBICelera
Cytogenetic Map11q11NCBI
Slc5a3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540733,494,816 - 33,511,968 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540733,460,238 - 33,511,889 (+)NCBIChiLan1.0ChiLan1.0
SLC5A3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22230,205,821 - 30,224,599 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12125,046,621 - 25,082,772 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02120,441,434 - 20,474,101 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1 Ensembl2133,831,917 - 33,834,073 (+)Ensemblpanpan1.1panPan2
SLC5A3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13128,610,332 - 28,635,233 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3128,610,332 - 28,635,233 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3128,607,798 - 28,632,691 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03128,815,044 - 28,839,960 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3128,815,024 - 28,840,301 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13128,681,748 - 28,706,621 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03128,696,566 - 28,721,418 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03129,195,487 - 29,220,373 (+)NCBIUU_Cfam_GSD_1.0
Slc5a3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497129,152,449 - 29,183,192 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365008,284,631 - 8,296,387 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC5A3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13197,711,679 - 197,718,695 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113197,688,632 - 197,723,323 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SLC5A3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1258,104,938 - 58,131,225 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666071601,202 - 634,141 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc5a3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474522,231,887 - 22,258,965 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474522,231,434 - 22,264,555 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC5A3
10 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q22.1(chr21:35292816-36834601)x3 copy number gain See cases [RCV000053070] Chr21:35292816..36834601 [GRCh37]
Chr21:34214686..35756471 [NCBI36]
Chr21:21q22.1		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 copy number gain See cases [RCV000133676] Chr21:7749532..42971047 [GRCh38]
Chr21:15499847..44391157 [GRCh37]
Chr21:14421718..43264226 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q22.11-22.12(chr21:34997018-36118212)x3 copy number gain See cases [RCV000136827] Chr21:34997018..36118212 [GRCh37]
Chr21:33918888..35040082 [NCBI36]
Chr21:21q22.11-22.12		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1 copy number loss See cases [RCV000138095] Chr21:7749532..37653653 [GRCh38]
Chr21:15451032..39025955 [GRCh37]
Chr21:14372903..37947825 [NCBI36]
Chr21:21p11.2-q22.13		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3		 uncertain significance
GRCh37/hg19 21q21.3-22.12(chr21:29880468-36062331)x1 copy number loss See cases [RCV000141575] Chr21:29880468..36062331 [GRCh37]
Chr21:28802339..34984201 [NCBI36]
Chr21:21q21.3-22.12		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3 copy number gain Complete trisomy 21 syndrome [RCV002284306] Chr21:14420615..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NC_000021.8:g.35304341_36865875del deletion Hereditary thrombocytopenia and hematologic cancer predisposition syndrome [RCV003448360]|Thrombocytopenia [RCV001003847] Chr21:35304341..36865875 [GRCh37]
Chr21:21q22.11-22.12		 pathogenic|likely pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)x3 copy number gain See cases [RCV000446716] Chr21:15006457..43598570 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)x3 copy number gain See cases [RCV000448874] Chr21:29812033..39282854 [GRCh37]
Chr21:21q21.3-22.13		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3 copy number gain See cases [RCV000448199] Chr21:15006457..44827632 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.11-22.2(chr21:33980213-42542987)x3 copy number gain not provided [RCV000684166] Chr21:33980213..42542987 [GRCh37]
Chr21:21q22.11-22.2		 pathogenic
GRCh37/hg19 21q22.11-22.12(chr21:35313088-36864916)x3 copy number gain not provided [RCV000684159] Chr21:35313088..36864916 [GRCh37]
Chr21:21q22.11-22.12		 uncertain significance
GRCh37/hg19 21q22.11(chr21:34281910-35748170)x1 copy number loss not provided [RCV000709834] Chr21:34281910..35748170 [GRCh37]
Chr21:21q22.11		 not provided
NC_000021.8:g.35304355_36865958del deletion Thrombocytopenia [RCV001003848] Chr21:35304355..36865958 [GRCh37]
Chr21:21q22.11-22.12		 likely pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q22.11(chr21:35445378-35446561)x1 copy number loss not provided [RCV000741541] Chr21:35445378..35446561 [GRCh37]
Chr21:21q22.11		 benign
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.11-22.12(chr21:35298070-36876005)x1 copy number loss not provided [RCV000846552] Chr21:35298070..36876005 [GRCh37]
Chr21:21q22.11-22.12		 pathogenic
NM_006933.7(SLC5A3):c.1203C>T (p.Ser401=) single nucleotide variant not provided [RCV000934226] Chr21:34096401 [GRCh38]
Chr21:35468700 [GRCh37]
Chr21:21q22.11		 likely benign
GRCh37/hg19 21q22.11-22.12(chr21:33205064-36039022) copy number loss 21q22.11q22.12 microdeletion syndrome [RCV001093501] Chr21:33205064..36039022 [GRCh37]
Chr21:21q22.11-22.12		 pathogenic
GRCh37/hg19 21q22.11(chr21:34379096-35572731)x1 copy number loss not provided [RCV001259407] Chr21:34379096..35572731 [GRCh37]
Chr21:21q22.11		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NC_000021.8:g.(?_32439271)_(37133458_?)dup duplication Early-onset Parkinson disease 20 [RCV001338842] Chr21:32439271..37133458 [GRCh37]
Chr21:21q22.11-22.12		 uncertain significance
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3 copy number gain See cases [RCV001780078] Chr21:1..48129895 [GRCh37]
Chr21:21p13-q22.3		 pathogenic
GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854) copy number gain not specified [RCV002052729] Chr21:29812033..39282854 [GRCh37]
Chr21:21q21.3-22.13		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV001829203] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372) copy number gain not specified [RCV002052725] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372) copy number gain not specified [RCV002052723] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.12(chr21:27185913-35853445) copy number loss not specified [RCV002052728] Chr21:27185913..35853445 [GRCh37]
Chr21:21q21.3-22.12		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372) copy number gain not specified [RCV002052724] Chr21:15041209..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.11-22.12(chr21:35298070-36876005) copy number gain not specified [RCV002052735] Chr21:35298070..36876005 [GRCh37]
Chr21:21q22.11-22.12		 uncertain significance
NC_000021.8:g.(?_32439271)_(39212984_?)dup duplication Amyotrophic lateral sclerosis type 1 [RCV001939883]|DYRK1A-related intellectual disability syndrome [RCV003107882] Chr21:32439271..39212984 [GRCh37]
Chr21:21q22.11-22.13		 uncertain significance
Single allele deletion ZTTK syndrome [RCV002247722] Chr21:32213458..34373118 [GRCh38]
Chr21:21q22.11		 pathogenic
NM_006933.7(SLC5A3):c.1928A>C (p.Glu643Ala) single nucleotide variant not specified [RCV004296726] Chr21:34097126 [GRCh38]
Chr21:35469425 [GRCh37]
Chr21:21q22.11		 uncertain significance
NM_006933.7(SLC5A3):c.1195C>T (p.Arg399Cys) single nucleotide variant not specified [RCV004327303] Chr21:34096393 [GRCh38]
Chr21:35468692 [GRCh37]
Chr21:21q22.11		 uncertain significance
NM_006933.7(SLC5A3):c.2005C>A (p.Leu669Ile) single nucleotide variant not specified [RCV004207172] Chr21:34097203 [GRCh38]
Chr21:35469502 [GRCh37]
Chr21:21q22.11		 uncertain significance
NM_006933.7(SLC5A3):c.274C>T (p.Leu92Phe) single nucleotide variant not specified [RCV004187550] Chr21:34095472 [GRCh38]
Chr21:35467771 [GRCh37]
Chr21:21q22.11		 uncertain significance
NM_006933.7(SLC5A3):c.554A>G (p.Asp185Gly) single nucleotide variant not specified [RCV004155762] Chr21:34095752 [GRCh38]
Chr21:35468051 [GRCh37]
Chr21:21q22.11		 uncertain significance
NM_006933.7(SLC5A3):c.106G>A (p.Val36Met) single nucleotide variant not specified [RCV004128300] Chr21:34095304 [GRCh38]
Chr21:35467603 [GRCh37]
Chr21:21q22.11		 uncertain significance
NM_006933.7(SLC5A3):c.1249T>G (p.Phe417Val) single nucleotide variant not specified [RCV004181168] Chr21:34096447 [GRCh38]
Chr21:35468746 [GRCh37]
Chr21:21q22.11		 uncertain significance
NM_006933.7(SLC5A3):c.1282A>G (p.Ile428Val) single nucleotide variant not specified [RCV004075174] Chr21:34096480 [GRCh38]
Chr21:35468779 [GRCh37]
Chr21:21q22.11		 uncertain significance
NM_006933.7(SLC5A3):c.1792C>T (p.Leu598Phe) single nucleotide variant not specified [RCV004086815] Chr21:34096990 [GRCh38]
Chr21:35469289 [GRCh37]
Chr21:21q22.11		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3 copy number gain not provided [RCV003485218] Chr21:15006458..45674637 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3 copy number gain not provided [RCV003485222] Chr21:33015681..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3 copy number gain not specified [RCV003986149] Chr21:30685776..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3 copy number gain not specified [RCV003986152] Chr21:26929299..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3 copy number gain not specified [RCV003986160] Chr21:15023401..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3 copy number gain not specified [RCV003986158] Chr21:34092685..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
NM_006933.7(SLC5A3):c.223A>G (p.Ser75Gly) single nucleotide variant not specified [RCV004464094] Chr21:34095421 [GRCh38]
Chr21:35467720 [GRCh37]
Chr21:21q22.11		 uncertain significance
NM_006933.7(SLC5A3):c.1187A>C (p.Lys396Thr) single nucleotide variant not specified [RCV004464090] Chr21:34096385 [GRCh38]
Chr21:35468684 [GRCh37]
Chr21:21q22.11		 uncertain significance
NM_006933.7(SLC5A3):c.1636T>C (p.Phe546Leu) single nucleotide variant not specified [RCV004464091] Chr21:34096834 [GRCh38]
Chr21:35469133 [GRCh37]
Chr21:21q22.11		 uncertain significance
NM_006933.7(SLC5A3):c.2055A>C (p.Leu685Phe) single nucleotide variant not specified [RCV004464093] Chr21:34097253 [GRCh38]
Chr21:35469552 [GRCh37]
Chr21:21q22.11		 uncertain significance
NM_006933.7(SLC5A3):c.1804G>T (p.Asp602Tyr) single nucleotide variant not specified [RCV004464092] Chr21:34097002 [GRCh38]
Chr21:35469301 [GRCh37]
Chr21:21q22.11		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR93hsa-miR-93-5pTarbaseexternal_infoSequencingPOSITIVE

Predicted Target Of
Summary Value
Count of predictions:5569
Count of miRNA genes:1120
Interacting mature miRNAs:1414
Transcripts:ENST00000381151, ENST00000608209
Prediction methods:Microtar, 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.

Markers in Region
RH104128  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,476,159 - 35,476,348UniSTSGRCh37
Build 362134,398,029 - 34,398,218RGDNCBI36
Celera2120,675,720 - 20,675,909RGD
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map21q22.12UniSTS
HuRef2120,954,616 - 20,954,805UniSTS
GeneMap99-GB4 RH Map21157.95UniSTS
Cda0ae11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,475,428 - 35,475,552UniSTSGRCh37
Build 362134,397,298 - 34,397,422RGDNCBI36
Celera2120,674,989 - 20,675,113RGD
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map21q22.12UniSTS
HuRef2120,953,884 - 20,954,008UniSTS
GeneMap99-GB4 RH Map21157.84UniSTS
SHGC-87543  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,478,348 - 35,478,451UniSTSGRCh37
Build 362134,400,218 - 34,400,321RGDNCBI36
Celera2120,677,909 - 20,678,012RGD
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map21q22.12UniSTS
HuRef2120,956,805 - 20,956,908UniSTS
TNG Radiation Hybrid Map2112068.0UniSTS
GeneMap99-GB4 RH Map21149.1UniSTS
D21S363E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,470,857 - 35,471,006UniSTSGRCh37
Build 362134,392,727 - 34,392,876RGDNCBI36
Celera2120,670,418 - 20,670,567RGD
Cytogenetic Map21q22.12UniSTS
HuRef2120,949,313 - 20,949,462UniSTS
G20293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,475,350 - 35,475,606UniSTSGRCh37
Build 362134,397,220 - 34,397,476RGDNCBI36
Celera2120,674,911 - 20,675,167RGD
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map21q22.12UniSTS
HuRef2120,953,806 - 20,954,062UniSTS
A005K42  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,475,350 - 35,475,606UniSTSGRCh37
Build 362134,397,220 - 34,397,476RGDNCBI36
Celera2120,674,911 - 20,675,167RGD
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map21q22.12UniSTS
HuRef2120,953,806 - 20,954,062UniSTS
GeneMap99-GB4 RH Map21154.61UniSTS
RH78031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,478,265 - 35,478,402UniSTSGRCh37
Build 362134,400,135 - 34,400,272RGDNCBI36
Celera2120,677,826 - 20,677,963RGD
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map21q22.12UniSTS
HuRef2120,956,722 - 20,956,859UniSTS
GeneMap99-GB4 RH Map21170.91UniSTS
SHGC-87556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,475,471 - 35,475,597UniSTSGRCh37
Build 362134,397,341 - 34,397,467RGDNCBI36
Celera2120,675,032 - 20,675,158RGD
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map21q22.12UniSTS
HuRef2120,953,927 - 20,954,053UniSTS
TNG Radiation Hybrid Map2112053.0UniSTS
GeneMap99-GB4 RH Map21154.3UniSTS
Whitehead-RH Map21162.8UniSTS
RH35989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,473,438 - 35,473,686UniSTSGRCh37
Build 362134,395,308 - 34,395,556RGDNCBI36
Celera2120,672,999 - 20,673,247RGD
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map21q22.12UniSTS
HuRef2120,951,894 - 20,952,142UniSTS
GeneMap99-GB4 RH Map21163.62UniSTS
SLC5A3_3862  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,468,806 - 35,469,681UniSTSGRCh37
Build 362134,390,676 - 34,391,551RGDNCBI36
Celera2120,668,367 - 20,669,242RGD
HuRef2120,947,260 - 20,948,135UniSTS


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 430 990 824 28 588 26 2185 133 837 97 484 988 17 1 470 1302 6 2
Low 1928 1686 662 406 984 249 2023 1847 2836 86 788 480 158 733 1374
Below cutoff 315 1 1 206 1 112 217 17 1 112

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_006933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB074183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF027153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX750578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP290336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA723865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB080492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L38500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X83558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000381151   ⟹   ENSP00000370543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2134,073,578 - 34,106,260 (+)Ensembl
RefSeq Acc Id: NM_006933   ⟹   NP_008864
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,073,578 - 34,106,260 (+)NCBI
GRCh372135,445,503 - 35,515,334 (+)NCBI
Build 362134,367,740 - 34,400,431 (+)NCBI Archive
HuRef2120,945,609 - 20,957,018 (+)ENTREZGENE
CHM1_12135,008,095 - 35,040,833 (+)NCBI
T2T-CHM13v2.02132,455,648 - 32,488,333 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_008864 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC39548 (Get FASTA)   NCBI Sequence Viewer  
  AAC41747 (Get FASTA)   NCBI Sequence Viewer  
  CAD99141 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000370543
  ENSP00000370543.3
GenBank Protein P53794 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_008864   ⟸   NM_006933
- UniProtKB: P53794 (UniProtKB/Swiss-Prot),   O43489 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000370543   ⟸   ENST00000381151

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P53794-F1-model_v2 AlphaFold P53794 1-718 view protein structure

Promoters
RGD ID:13602712
Promoter ID:EPDNEW_H27540
Type:initiation region
Name:SLC5A3_1
Description:solute carrier family 5 member 3
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
GRCh382134,073,578 - 34,073,638EPDNEW
RGD ID:6799267
Promoter ID:HG_KWN:40716
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000399312,   OTTHUMT00000141036,   OTTHUMT00000193779,   OTTHUMT00000194067,   UC002YTO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362134,366,841 - 34,367,862 (+)MPROMDB
RGD ID:6799593
Promoter ID:HG_KWN:40717
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:UC002YTQ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 362134,388,891 - 34,391,147 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11038 AgrOrtholog
COSMIC SLC5A3 COSMIC
Ensembl Genes ENSG00000198743 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000381151 ENTREZGENE
  ENST00000381151.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1730.10 UniProtKB/Swiss-Prot
GTEx ENSG00000198743 GTEx
HGNC ID HGNC:11038 ENTREZGENE
Human Proteome Map SLC5A3 Human Proteome Map
InterPro Na/Glc_symporter_sf UniProtKB/Swiss-Prot
  Na/solute_symporter UniProtKB/Swiss-Prot
  Na/solute_symporter_CS UniProtKB/Swiss-Prot
  SMIT UniProtKB/Swiss-Prot
NCBI Gene 6526 ENTREZGENE
OMIM 600444 OMIM
PANTHER SODIUM/MYO-INOSITOL COTRANSPORTER UniProtKB/Swiss-Prot
  SOLUTE CARRIER FAMILY 5 UniProtKB/Swiss-Prot
Pfam SSF UniProtKB/Swiss-Prot
PharmGKB PA35903 PharmGKB
PROSITE NA_SOLUT_SYMP_1 UniProtKB/Swiss-Prot
  NA_SOLUT_SYMP_2 UniProtKB/Swiss-Prot
  NA_SOLUT_SYMP_3 UniProtKB/Swiss-Prot
UniProt O43489 ENTREZGENE
  P53794 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary O43489 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-08 SLC5A3  solute carrier family 5 member 3    solute carrier family 5 (sodium/myo-inositol cotransporter), member 3  Symbol and/or name change 5135510 APPROVED