SLC17A9 (solute carrier family 17 member 9) - Rat Genome Database

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Gene: SLC17A9 (solute carrier family 17 member 9) Homo sapiens
Analyze
Symbol: SLC17A9
Name: solute carrier family 17 member 9
RGD ID: 1323655
HGNC Page HGNC:16192
Description: Enables purine nucleotide transmembrane transporter activity. Acts upstream of with a positive effect on ATP export. Acts upstream of or within ADP transport; ATP transport; and guanine nucleotide transmembrane transport. Is active in mucin granule. Implicated in porokeratosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C20orf59; FLJ23412; POROK8; solute carrier family 17 (vesicular nucleotide transporter), member 9; solute carrier family 17, member 9; vesicular nucleotide transporter SLC17A9; VNUT; voltage-gated purine nucleotide uniporter SLC17A9
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
GRCh382062,952,709 - 62,969,585 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2062,952,707 - 62,969,585 (+)EnsemblGRCh38hg38GRCh38
GRCh372061,584,061 - 61,600,937 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362061,054,444 - 61,070,394 (+)NCBINCBI36Build 36hg18NCBI36
Build 342061,054,503 - 61,070,392NCBI
Celera2058,260,628 - 58,276,497 (+)NCBICelera
Cytogenetic Map20q13.33NCBI
HuRef2058,301,019 - 58,316,723 (+)NCBIHuRef
CHM1_12061,485,010 - 61,500,690 (+)NCBICHM1_1
T2T-CHM13v2.02064,752,832 - 64,769,656 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:11780052   PMID:12477932   PMID:12693554   PMID:14702039   PMID:15489334   PMID:16344560   PMID:18375752   PMID:20382737   PMID:21613220   PMID:21873635   PMID:21988832   PMID:23467297  
PMID:24292772   PMID:24912190   PMID:24962569   PMID:25180256   PMID:29363573   PMID:30236596   PMID:30365528   PMID:31770754   PMID:31799885   PMID:32296183   PMID:33790119   PMID:35266813  
PMID:38058092  


Genomics

Comparative Map Data
SLC17A9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382062,952,709 - 62,969,585 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2062,952,707 - 62,969,585 (+)EnsemblGRCh38hg38GRCh38
GRCh372061,584,061 - 61,600,937 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362061,054,444 - 61,070,394 (+)NCBINCBI36Build 36hg18NCBI36
Build 342061,054,503 - 61,070,392NCBI
Celera2058,260,628 - 58,276,497 (+)NCBICelera
Cytogenetic Map20q13.33NCBI
HuRef2058,301,019 - 58,316,723 (+)NCBIHuRef
CHM1_12061,485,010 - 61,500,690 (+)NCBICHM1_1
T2T-CHM13v2.02064,752,832 - 64,769,656 (+)NCBIT2T-CHM13v2.0
Slc17a9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392180,363,989 - 180,384,073 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2180,367,056 - 180,384,073 (+)EnsemblGRCm39 Ensembl
GRCm382180,724,576 - 180,742,280 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2180,725,263 - 180,742,280 (+)EnsemblGRCm38mm10GRCm38
MGSCv372180,460,044 - 180,476,983 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362180,654,787 - 180,663,584 (+)NCBIMGSCv36mm8
Celera2184,810,869 - 184,828,004 (+)NCBICelera
Cytogenetic Map2H4NCBI
cM Map2103.28NCBI
Slc17a9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83188,211,106 - 188,233,553 (+)NCBIGRCr8
mRatBN7.23167,839,246 - 167,857,462 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3167,839,385 - 167,855,985 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3172,219,516 - 172,236,118 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03181,178,612 - 181,195,214 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03177,840,313 - 177,856,915 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03176,228,433 - 176,246,971 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3176,230,378 - 176,246,953 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03179,929,180 - 179,946,174 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43169,820,567 - 169,837,283 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13169,726,638 - 169,742,785 (+)NCBI
Celera3164,726,946 - 164,743,476 (-)NCBICelera
Cytogenetic Map3q43NCBI
Slc17a9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555281,124,437 - 1,139,476 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555281,124,430 - 1,139,476 (-)NCBIChiLan1.0ChiLan1.0
SLC17A9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22168,739,785 - 68,755,453 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12068,733,119 - 68,748,587 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02059,339,779 - 59,356,396 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12060,631,969 - 60,647,286 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2060,631,969 - 60,647,278 (+)Ensemblpanpan1.1panPan2
SLC17A9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12446,752,464 - 46,765,915 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2446,752,107 - 46,766,375 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2445,936,526 - 45,949,977 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02447,624,805 - 47,638,260 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2447,624,794 - 47,638,258 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12446,722,604 - 46,736,030 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02446,845,708 - 46,859,155 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02447,601,923 - 47,615,385 (+)NCBIUU_Cfam_GSD_1.0
Slc17a9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640194,981,669 - 194,997,290 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493651410,435,275 - 10,450,960 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493651410,435,261 - 10,450,976 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC17A9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1762,186,112 - 62,200,084 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11762,186,114 - 62,200,091 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SLC17A9
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121,254,573 - 1,270,730 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl21,255,203 - 1,270,614 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605049,083,240 - 49,100,007 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc17a9
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474128,707,739 - 28,730,695 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC17A9
35 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20q13.33(chr20:62455231-63839491)x1 copy number loss See cases [RCV000052768] Chr20:62455231..63839491 [GRCh38]
Chr20:61030287..62470844 [GRCh37]
Chr20:60463682..61941288 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1 copy number loss See cases [RCV000052769] Chr20:62545370..64241486 [GRCh38]
Chr20:61142577..62872839 [GRCh37]
Chr20:60553022..62343283 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:62561794-63331723)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052770]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052770]|See cases [RCV000052770] Chr20:62561794..63331723 [GRCh38]
Chr20:61211869..61963075 [GRCh37]
Chr20:60569446..61433519 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33		 pathogenic
NM_022082.3(SLC17A9):c.1139C>T (p.Ala380Val) single nucleotide variant Malignant melanoma [RCV000063795] Chr20:62966724 [GRCh38]
Chr20:61598076 [GRCh37]
Chr20:61068521 [NCBI36]
Chr20:20q13.33		 not provided
NC_000020.10:g.(?_60831241)_(62664346_?)dup duplication Developmental and epileptic encephalopathy, 33 [RCV001295457]|Early infantile epileptic encephalopathy with suppression bursts [RCV001316934] Chr20:60831241..62664346 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_022082.4(SLC17A9):c.932G>A (p.Arg311Gln) single nucleotide variant Porokeratosis 8, disseminated superficial actinic type [RCV000144721] Chr20:62965153 [GRCh38]
Chr20:61596505 [GRCh37]
Chr20:20q13.33		 pathogenic
NM_022082.4(SLC17A9):c.25C>T (p.Arg9Cys) single nucleotide variant Porokeratosis 8, disseminated superficial actinic type [RCV000144722]|not specified [RCV002247535] Chr20:62952855 [GRCh38]
Chr20:61584207 [GRCh37]
Chr20:20q13.33		 pathogenic|uncertain significance
GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1 copy number loss See cases [RCV000133842] Chr20:62561794..64277321 [GRCh38]
Chr20:61211869..62908674 [GRCh37]
Chr20:60569446..62379118 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3 copy number gain See cases [RCV000135805] Chr20:59041966..64277321 [GRCh38]
Chr20:57617021..62908674 [GRCh37]
Chr20:57050416..62379118 [NCBI36]
Chr20:20q13.32-13.33		 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 20q13.2-13.33(chr20:56198032-64277321)x3 copy number gain See cases [RCV000138035] Chr20:56198032..64277321 [GRCh38]
Chr20:54773088..62908674 [GRCh37]
Chr20:54206495..62379118 [NCBI36]
Chr20:20q13.2-13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3 copy number gain See cases [RCV000139100] Chr20:61326549..64277326 [GRCh38]
Chr20:59901605..62908679 [GRCh37]
Chr20:59335000..62379123 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:62939140-63198970)x3 copy number gain See cases [RCV000139758] Chr20:62939140..63198970 [GRCh38]
Chr20:61570492..61830322 [GRCh37]
Chr20:61040937..61300767 [NCBI36]
Chr20:20q13.33		 likely benign
GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3 copy number gain See cases [RCV000141347] Chr20:57229415..64273089 [GRCh38]
Chr20:55804471..62904442 [GRCh37]
Chr20:55237878..62374886 [NCBI36]
Chr20:20q13.31-13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1 copy number loss See cases [RCV000141744] Chr20:62582073..64284202 [GRCh38]
Chr20:61179280..62915555 [GRCh37]
Chr20:60589725..62385999 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1 copy number loss See cases [RCV000141676] Chr20:62663307..64284202 [GRCh38]
Chr20:61294659..62915555 [GRCh37]
Chr20:60765104..62385999 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3 copy number gain See cases [RCV000143584] Chr20:53236165..64284202 [GRCh38]
Chr20:51852704..62915555 [GRCh37]
Chr20:51286111..62385999 [NCBI36]
Chr20:20q13.2-13.33		 likely pathogenic
GRCh37/hg19 20q13.33(chr20:60882468-62045494)x1 copy number loss Breast ductal adenocarcinoma [RCV000207130] Chr20:60882468..62045494 [GRCh37]
Chr20:20q13.33		 uncertain significance
chr20:60885242-61929348 complex variant complex Breast ductal adenocarcinoma [RCV000207152] Chr20:60885242..61929348 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:61429900-62293991)x1 copy number loss See cases [RCV000240573] Chr20:61429900..62293991 [GRCh37]
Chr20:20q13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:61337529-62904501)x1 copy number loss not provided [RCV000488148] Chr20:61337529..62904501 [GRCh37]
Chr20:20q13.33		 likely pathogenic
GRCh37/hg19 20q13.33(chr20:61595624-61637326)x3 copy number gain See cases [RCV000445922] Chr20:61595624..61637326 [GRCh37]
Chr20:20q13.33		 benign
GRCh37/hg19 20q13.33(chr20:60473339-62915555)x3 copy number gain See cases [RCV000446009] Chr20:60473339..62915555 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3 copy number gain See cases [RCV000511980] Chr20:51542616..62915555 [GRCh37]
Chr20:20q13.2-13.33		 likely 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 20q13.33(chr20:61530581-61911114)x1 copy number loss See cases [RCV000512342] Chr20:61530581..61911114 [GRCh37]
Chr20:20q13.33		 likely benign
GRCh37/hg19 20q13.33(chr20:61022397-61738592)x1 copy number loss not provided [RCV000684122] Chr20:61022397..61738592 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_022082.4(SLC17A9):c.931C>T (p.Arg311Trp) single nucleotide variant Porokeratosis 8, disseminated superficial actinic type [RCV000714806] Chr20:62965152 [GRCh38]
Chr20:61596504 [GRCh37]
Chr20:20q13.33		 uncertain significance
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 20q13.33(chr20:60053234-62961294)x3 copy number gain not provided [RCV000741328] Chr20:60053234..62961294 [GRCh37]
Chr20:20q13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:60063645-62961294)x3 copy number gain not provided [RCV000741329] Chr20:60063645..62961294 [GRCh37]
Chr20:20q13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:61576777-61604147)x3 copy number gain not provided [RCV000741361] Chr20:61576777..61604147 [GRCh37]
Chr20:20q13.33		 benign
GRCh37/hg19 20q13.33(chr20:61585706-61604147)x3 copy number gain not provided [RCV000741362] Chr20:61585706..61604147 [GRCh37]
Chr20:20q13.33		 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_022082.4(SLC17A9):c.683= (p.Asn228=) variation not provided [RCV000962744] Chr20:62963327 [GRCh38]
Chr20:61594679 [GRCh37]
Chr20:20q13.33		 benign
NM_022082.4(SLC17A9):c.257+1G>T single nucleotide variant not provided [RCV000880939] Chr20:62956963 [GRCh38]
Chr20:61588315 [GRCh37]
Chr20:20q13.33		 benign
NM_022082.4(SLC17A9):c.257+2T>C single nucleotide variant not provided [RCV000880940] Chr20:62956964 [GRCh38]
Chr20:61588316 [GRCh37]
Chr20:20q13.33		 benign
NM_022082.4(SLC17A9):c.1147+9C>T single nucleotide variant not provided [RCV000972612] Chr20:62966741 [GRCh38]
Chr20:61598093 [GRCh37]
Chr20:20q13.33		 benign
GRCh37/hg19 20q13.33(chr20:61152321-62915555)x1 copy number loss not provided [RCV001007103] Chr20:61152321..62915555 [GRCh37]
Chr20:20q13.33		 pathogenic
GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881) copy number gain not provided [RCV000767669] Chr20:54143747..62194881 [GRCh37]
Chr20:20q13.2-13.33		 pathogenic
NM_022082.4(SLC17A9):c.629-7C>T single nucleotide variant SLC17A9-related condition [RCV003916090]|not provided [RCV000962743] Chr20:62963266 [GRCh38]
Chr20:61594618 [GRCh37]
Chr20:20q13.33		 benign
GRCh37/hg19 20q13.33(chr20:61548147-61619208)x1 copy number loss not provided [RCV000849776] Chr20:61548147..61619208 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:60946209-61975606)x3 copy number gain not provided [RCV000847979] Chr20:60946209..61975606 [GRCh37]
Chr20:20q13.33		 uncertain significance
NC_000020.10:g.(?_60831241)_(62680869_?)dup duplication Developmental and epileptic encephalopathy, 33 [RCV003107566]|Early infantile epileptic encephalopathy with suppression bursts [RCV003122564] Chr20:60831241..62680869 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_022082.4(SLC17A9):c.186C>T (p.Ala62=) single nucleotide variant SLC17A9-related condition [RCV003953375]|not provided [RCV000980998] Chr20:62956891 [GRCh38]
Chr20:61588243 [GRCh37]
Chr20:20q13.33		 likely benign
NM_022082.4(SLC17A9):c.473del (p.Ile158fs) deletion not provided [RCV000958106] Chr20:62960579 [GRCh38]
Chr20:61591931 [GRCh37]
Chr20:20q13.33		 likely benign
NM_022082.4(SLC17A9):c.554G>C (p.Ser185Thr) single nucleotide variant SLC17A9-related condition [RCV003978317]|not provided [RCV000958107] Chr20:62962680 [GRCh38]
Chr20:61594032 [GRCh37]
Chr20:20q13.33		 benign
NM_022082.4(SLC17A9):c.250G>A (p.Gly84Arg) single nucleotide variant SLC17A9-related condition [RCV003957928]|not provided [RCV000889862] Chr20:62956955 [GRCh38]
Chr20:61588307 [GRCh37]
Chr20:20q13.33		 benign|likely benign
NM_022082.4(SLC17A9):c.823-7C>T single nucleotide variant not provided [RCV000889863] Chr20:62964221 [GRCh38]
Chr20:61595573 [GRCh37]
Chr20:20q13.33		 likely benign
NM_022082.4(SLC17A9):c.1105G>T (p.Gly369Cys) single nucleotide variant not specified [RCV004304883] Chr20:62966568 [GRCh38]
Chr20:61597920 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3 copy number gain not provided [RCV002473575] Chr20:60621074..62915555 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3 copy number gain not provided [RCV001007097] Chr20:55743522..62032989 [GRCh37]
Chr20:20q13.31-13.33		 pathogenic
GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3 copy number gain not provided [RCV001007098] Chr20:56788101..62762405 [GRCh37]
Chr20:20q13.32-13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:61507440-62318983)x3 copy number gain not provided [RCV001258919] Chr20:61507440..62318983 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3 copy number gain not provided [RCV001537917] Chr20:51799648..62916626 [GRCh37]
Chr20:20q13.2-13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:61510452-62315381) copy number loss Epileptic spasm [RCV001352668] Chr20:61510452..62315381 [GRCh37]
Chr20:20q13.33		 pathogenic
NM_022082.4(SLC17A9):c.1102del (p.Ala368fs) deletion Porokeratosis 8, disseminated superficial actinic type [RCV001329885] Chr20:62966565 [GRCh38]
Chr20:61597917 [GRCh37]
Chr20:20q13.33		 pathogenic
NM_022082.4(SLC17A9):c.1012T>C (p.Ser338Pro) single nucleotide variant Porokeratosis 8, disseminated superficial actinic type [RCV001333120] Chr20:62965676 [GRCh38]
Chr20:61597028 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:61273854-62907579) copy number loss Seizures, benign familial neonatal, 1 [RCV001786556] Chr20:61273854..62907579 [GRCh37]
Chr20:20q13.33		 likely pathogenic
GRCh37/hg19 20q13.33(chr20:61041481-62680992) copy number loss Seizures, benign familial neonatal, 1 [RCV001786555] Chr20:61041481..62680992 [GRCh37]
Chr20:20q13.33		 likely pathogenic
GRCh37/hg19 20q13.33(chr20:61038552-62907579) copy number loss Seizures, benign familial neonatal, 1 [RCV001786557] Chr20:61038552..62907579 [GRCh37]
Chr20:20q13.33		 likely pathogenic
GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555) copy number gain not specified [RCV002052713] Chr20:56835739..62915555 [GRCh37]
Chr20:20q13.32-13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:60473339-62915555) copy number gain not specified [RCV002052714] Chr20:60473339..62915555 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:61003263-62915555) copy number loss not specified [RCV002052717] Chr20:61003263..62915555 [GRCh37]
Chr20:20q13.33		 pathogenic
NC_000020.10:g.(?_61448417)_(62124660_?)del deletion Autosomal dominant nocturnal frontal lobe epilepsy [RCV001916149]|Developmental and epileptic encephalopathy, 33 [RCV003107883] Chr20:61448417..62124660 [GRCh37]
Chr20:20q13.33		 uncertain significance
NC_000020.10:g.(?_61471874)_(62078210_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV003113817] Chr20:61471874..62078210 [GRCh37]
Chr20:20q13.33		 pathogenic
Single allele duplication not provided [RCV002266602] Chr20:62941782..63658260 [GRCh38]
Chr20:20q13.33		 uncertain significance
Single allele duplication not specified [RCV002286379] Chr20:61800345..63644611 [GRCh38]
Chr20:20q13.33		 uncertain significance
NM_022082.4(SLC17A9):c.649G>A (p.Val217Ile) single nucleotide variant not specified [RCV004213039] Chr20:62963293 [GRCh38]
Chr20:61594645 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_022082.4(SLC17A9):c.187G>A (p.Gly63Ser) single nucleotide variant not specified [RCV004117266] Chr20:62956892 [GRCh38]
Chr20:61588244 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_022082.4(SLC17A9):c.701G>A (p.Arg234Gln) single nucleotide variant not specified [RCV004235539] Chr20:62963345 [GRCh38]
Chr20:61594697 [GRCh37]
Chr20:20q13.33		 likely benign
NM_022082.4(SLC17A9):c.253G>A (p.Asp85Asn) single nucleotide variant not specified [RCV004186184] Chr20:62956958 [GRCh38]
Chr20:61588310 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_022082.4(SLC17A9):c.50A>G (p.Gln17Arg) single nucleotide variant not specified [RCV004220717] Chr20:62952880 [GRCh38]
Chr20:61584232 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_022082.4(SLC17A9):c.703C>G (p.Leu235Val) single nucleotide variant not specified [RCV004232214] Chr20:62963347 [GRCh38]
Chr20:61594699 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_022082.4(SLC17A9):c.64G>A (p.Glu22Lys) single nucleotide variant not specified [RCV004211725] Chr20:62956769 [GRCh38]
Chr20:61588121 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_022082.4(SLC17A9):c.1105G>A (p.Gly369Ser) single nucleotide variant not specified [RCV004135976] Chr20:62966568 [GRCh38]
Chr20:61597920 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_022082.4(SLC17A9):c.455G>A (p.Arg152Gln) single nucleotide variant not specified [RCV004079441] Chr20:62960561 [GRCh38]
Chr20:61591913 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_022082.4(SLC17A9):c.1094C>T (p.Pro365Leu) single nucleotide variant not specified [RCV004122341] Chr20:62966557 [GRCh38]
Chr20:61597909 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_022082.4(SLC17A9):c.50A>C (p.Gln17Pro) single nucleotide variant not specified [RCV004178776] Chr20:62952880 [GRCh38]
Chr20:61584232 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_022082.4(SLC17A9):c.268G>A (p.Glu90Lys) single nucleotide variant not specified [RCV004081566] Chr20:62957451 [GRCh38]
Chr20:61588803 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_022082.4(SLC17A9):c.601G>A (p.Val201Met) single nucleotide variant not specified [RCV004230355] Chr20:62962727 [GRCh38]
Chr20:61594079 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_022082.4(SLC17A9):c.814G>A (p.Asp272Asn) single nucleotide variant not specified [RCV004081977] Chr20:62963672 [GRCh38]
Chr20:61595024 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_022082.4(SLC17A9):c.571G>A (p.Gly191Ser) single nucleotide variant not specified [RCV004220180] Chr20:62962697 [GRCh38]
Chr20:61594049 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_022082.4(SLC17A9):c.1229T>A (p.Ile410Asn) single nucleotide variant not specified [RCV004259134] Chr20:62967418 [GRCh38]
Chr20:61598770 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_022082.4(SLC17A9):c.710G>A (p.Arg237Gln) single nucleotide variant not specified [RCV004253744] Chr20:62963354 [GRCh38]
Chr20:61594706 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_022082.4(SLC17A9):c.505C>G (p.Leu169Val) single nucleotide variant not specified [RCV004263466] Chr20:62962631 [GRCh38]
Chr20:61593983 [GRCh37]
Chr20:20q13.33		 likely benign
NM_022082.4(SLC17A9):c.863C>T (p.Pro288Leu) single nucleotide variant not specified [RCV004249442] Chr20:62964268 [GRCh38]
Chr20:61595620 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_022082.4(SLC17A9):c.10C>A (p.Pro4Thr) single nucleotide variant not specified [RCV004273008] Chr20:62952840 [GRCh38]
Chr20:61584192 [GRCh37]
Chr20:20q13.33		 likely benign
GRCh38/hg38 20q13.33(chr20:62632017-63794804)x1 copy number loss Neurodevelopmental disorder [RCV003327727] Chr20:62632017..63794804 [GRCh38]
Chr20:20q13.33		 pathogenic
GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3 copy number gain See cases [RCV003329549] Chr20:52773668..62965020 [GRCh37]
Chr20:20q13.2-13.33		 uncertain significance
NM_022082.4(SLC17A9):c.977C>G (p.Ala326Gly) single nucleotide variant not specified [RCV004350098] Chr20:62965641 [GRCh38]
Chr20:61596993 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:61421505-62070966)x1 copy number loss not specified [RCV003986131] Chr20:61421505..62070966 [GRCh37]
Chr20:20q13.33		 pathogenic
NM_022082.4(SLC17A9):c.190A>T (p.Ile64Phe) single nucleotide variant SLC17A9-related condition [RCV003951407] Chr20:62956895 [GRCh38]
Chr20:61588247 [GRCh37]
Chr20:20q13.33		 likely benign
NM_022082.4(SLC17A9):c.1038C>T (p.Ile346=) single nucleotide variant SLC17A9-related condition [RCV003903900] Chr20:62965702 [GRCh38]
Chr20:61597054 [GRCh37]
Chr20:20q13.33		 likely benign
NM_022082.4(SLC17A9):c.516G>A (p.Ala172=) single nucleotide variant SLC17A9-related condition [RCV003969518] Chr20:62962642 [GRCh38]
Chr20:61593994 [GRCh37]
Chr20:20q13.33		 likely benign
NM_022082.4(SLC17A9):c.1190C>T (p.Thr397Met) single nucleotide variant SLC17A9-related condition [RCV003979169] Chr20:62967379 [GRCh38]
Chr20:61598731 [GRCh37]
Chr20:20q13.33		 benign
NM_022082.4(SLC17A9):c.59+342C>A single nucleotide variant SLC17A9-related condition [RCV003907038] Chr20:62953231 [GRCh38]
Chr20:61584583 [GRCh37]
Chr20:20q13.33		 likely benign
NM_022082.4(SLC17A9):c.663C>T (p.Ser221=) single nucleotide variant SLC17A9-related condition [RCV003937199] Chr20:62963307 [GRCh38]
Chr20:61594659 [GRCh37]
Chr20:20q13.33		 likely benign
NM_022082.4(SLC17A9):c.733G>A (p.Val245Ile) single nucleotide variant SLC17A9-related condition [RCV003929770] Chr20:62963591 [GRCh38]
Chr20:61594943 [GRCh37]
Chr20:20q13.33		 benign
NM_022082.4(SLC17A9):c.330C>T (p.Leu110=) single nucleotide variant SLC17A9-related condition [RCV003973812] Chr20:62957513 [GRCh38]
Chr20:61588865 [GRCh37]
Chr20:20q13.33		 benign
NM_022082.4(SLC17A9):c.316G>A (p.Val106Ile) single nucleotide variant SLC17A9-related condition [RCV003924030] Chr20:62957499 [GRCh38]
Chr20:61588851 [GRCh37]
Chr20:20q13.33		 benign
NM_022082.4(SLC17A9):c.546C>T (p.Gly182=) single nucleotide variant SLC17A9-related condition [RCV003954635] Chr20:62962672 [GRCh38]
Chr20:61594024 [GRCh37]
Chr20:20q13.33		 likely benign
NM_022082.4(SLC17A9):c.1289G>A (p.Ser430Asn) single nucleotide variant not specified [RCV004448592] Chr20:62967478 [GRCh38]
Chr20:61598830 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_022082.4(SLC17A9):c.544G>A (p.Gly182Ser) single nucleotide variant not specified [RCV004448594] Chr20:62962670 [GRCh38]
Chr20:61594022 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_022082.4(SLC17A9):c.616C>A (p.Leu206Met) single nucleotide variant not specified [RCV004448595] Chr20:62962742 [GRCh38]
Chr20:61594094 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_022082.4(SLC17A9):c.1305C>T (p.Asp435=) single nucleotide variant SLC17A9-related condition [RCV003943817] Chr20:62967494 [GRCh38]
Chr20:61598846 [GRCh37]
Chr20:20q13.33		 likely benign
NM_022082.4(SLC17A9):c.543C>T (p.Tyr181=) single nucleotide variant SLC17A9-related condition [RCV003914642] Chr20:62962669 [GRCh38]
Chr20:61594021 [GRCh37]
Chr20:20q13.33		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2061
Count of miRNA genes:784
Interacting mature miRNAs:917
Transcripts:ENST00000370349, ENST00000370351, ENST00000411611, ENST00000459704, ENST00000483113, ENST00000487303, ENST00000488738
Prediction methods:Microtar, Miranda, Rnahybrid
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
RH78178  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372061,599,595 - 61,599,716UniSTSGRCh37
Build 362061,070,040 - 61,070,161RGDNCBI36
Celera2058,276,143 - 58,276,264RGD
Cytogenetic Map20q13.33UniSTS
HuRef2058,316,369 - 58,316,490UniSTS
RH67463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372061,599,771 - 61,599,895UniSTSGRCh37
Build 362061,070,216 - 61,070,340RGDNCBI36
Celera2058,276,319 - 58,276,443RGD
Cytogenetic Map20q13.33UniSTS
HuRef2058,316,545 - 58,316,669UniSTS
G32772  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372061,599,771 - 61,599,895UniSTSGRCh37
Celera2058,276,319 - 58,276,443UniSTS
Cytogenetic Map20q13.33UniSTS
HuRef2058,316,545 - 58,316,669UniSTS


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 855 669 636 511 1104 435 530 192 212 30 229 588 77 101 282
Low 1553 2151 1068 106 815 22 3552 1616 2719 323 1143 855 88 1103 2285 4 1
Below cutoff 17 169 17 5 28 6 244 367 759 48 35 95 6 1 221 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_041785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001302643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_936601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK027065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB153870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000370349   ⟹   ENSP00000359374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,952,707 - 62,968,597 (+)Ensembl
RefSeq Acc Id: ENST00000370351   ⟹   ENSP00000359376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,952,709 - 62,969,585 (+)Ensembl
RefSeq Acc Id: ENST00000411611   ⟹   ENSP00000388215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,953,046 - 62,957,580 (+)Ensembl
RefSeq Acc Id: ENST00000459704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,962,282 - 62,968,597 (+)Ensembl
RefSeq Acc Id: ENST00000483113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,965,006 - 62,968,597 (+)Ensembl
RefSeq Acc Id: ENST00000487303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,963,129 - 62,963,849 (+)Ensembl
RefSeq Acc Id: ENST00000488738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,952,711 - 62,968,597 (+)Ensembl
RefSeq Acc Id: NM_001302643   ⟹   NP_001289572
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,952,709 - 62,969,585 (+)NCBI
CHM1_12061,485,010 - 61,500,690 (+)NCBI
T2T-CHM13v2.02064,752,832 - 64,769,656 (+)NCBI
Sequence:
RefSeq Acc Id: NM_022082   ⟹   NP_071365
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,952,709 - 62,969,585 (+)NCBI
GRCh372061,583,999 - 61,599,949 (+)RGD
Build 362061,054,444 - 61,070,394 (+)NCBI Archive
Celera2058,260,628 - 58,276,497 (+)RGD
HuRef2058,301,019 - 58,316,723 (+)RGD
CHM1_12061,485,010 - 61,500,690 (+)NCBI
T2T-CHM13v2.02064,752,832 - 64,769,656 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011528978   ⟹   XP_011527280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,956,853 - 62,969,585 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054323810   ⟹   XP_054179785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02064,756,976 - 64,769,656 (+)NCBI
RefSeq Acc Id: XR_008485289
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02064,752,832 - 64,765,794 (+)NCBI
RefSeq Acc Id: XR_936601
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,952,709 - 62,965,667 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_071365   ⟸   NM_022082
- Peptide Label: isoform 1
- UniProtKB: Q9BYT1 (UniProtKB/Swiss-Prot),   Q9BYT0 (UniProtKB/Swiss-Prot),   Q8TEL5 (UniProtKB/Swiss-Prot),   Q8TBP4 (UniProtKB/Swiss-Prot),   Q8TB07 (UniProtKB/Swiss-Prot),   Q5W198 (UniProtKB/Swiss-Prot),   B3KTF2 (UniProtKB/Swiss-Prot),   Q9BYT2 (UniProtKB/Swiss-Prot),   B4DPU8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001289572   ⟸   NM_001302643
- Peptide Label: isoform 2
- UniProtKB: B4DPU8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011527280   ⟸   XM_011528978
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000359374   ⟸   ENST00000370349
RefSeq Acc Id: ENSP00000359376   ⟸   ENST00000370351
RefSeq Acc Id: ENSP00000388215   ⟸   ENST00000411611
RefSeq Acc Id: XP_054179785   ⟸   XM_054323810
- Peptide Label: isoform X1
Protein Domains
Major facilitator superfamily (MFS) profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BYT1-F1-model_v2 AlphaFold Q9BYT1 1-436 view protein structure

Promoters
RGD ID:6799080
Promoter ID:HG_KWN:40136
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:NM_022082,   OTTHUMT00000080101,   OTTHUMT00000080104,   UC002YDZ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 362061,053,501 - 61,055,032 (+)MPROMDB
RGD ID:6799062
Promoter ID:HG_KWN:40138
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000080102
Position:
Human AssemblyChrPosition (strand)Source
Build 362061,064,774 - 61,065,274 (+)MPROMDB
RGD ID:6799064
Promoter ID:HG_KWN:40139
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000080105
Position:
Human AssemblyChrPosition (strand)Source
Build 362061,065,901 - 61,067,102 (+)MPROMDB
RGD ID:13602364
Promoter ID:EPDNEW_H27366
Type:initiation region
Name:SLC17A9_1
Description:solute carrier family 17 member 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27367  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,952,709 - 62,952,769EPDNEW
RGD ID:13602370
Promoter ID:EPDNEW_H27367
Type:initiation region
Name:SLC17A9_2
Description:solute carrier family 17 member 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27366  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,953,037 - 62,953,097EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16192 AgrOrtholog
COSMIC SLC17A9 COSMIC
Ensembl Genes ENSG00000101194 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000370349 ENTREZGENE
  ENST00000370349.7 UniProtKB/Swiss-Prot
  ENST00000370351 ENTREZGENE
  ENST00000370351.9 UniProtKB/Swiss-Prot
  ENST00000411611.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1250.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000101194 GTEx
HGNC ID HGNC:16192 ENTREZGENE
Human Proteome Map SLC17A9 Human Proteome Map
InterPro MFS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS_trans_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLC17A9-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sugar_transporter_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:63910 UniProtKB/Swiss-Prot
NCBI Gene 63910 ENTREZGENE
OMIM 612107 OMIM
PANTHER SOLUTE CARRIER FAMILY 17 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOLUTE CARRIER FAMILY 17 MEMBER 9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MFS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164725806 PharmGKB
PROSITE MFS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUGAR_TRANSPORT_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF103473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KTF2 ENTREZGENE
  B4DPU8 ENTREZGENE, UniProtKB/TrEMBL
  Q5W197_HUMAN UniProtKB/TrEMBL
  Q5W198 ENTREZGENE
  Q8TB07 ENTREZGENE
  Q8TBP4 ENTREZGENE
  Q8TEL5 ENTREZGENE
  Q9BYT0 ENTREZGENE
  Q9BYT1 ENTREZGENE
  Q9BYT2 ENTREZGENE
  S17A9_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B3KTF2 UniProtKB/Swiss-Prot
  Q5W198 UniProtKB/Swiss-Prot
  Q8TB07 UniProtKB/Swiss-Prot
  Q8TBP4 UniProtKB/Swiss-Prot
  Q8TEL5 UniProtKB/Swiss-Prot
  Q9BYT0 UniProtKB/Swiss-Prot
  Q9BYT2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC17A9  solute carrier family 17 member 9    solute carrier family 17 (vesicular nucleotide transporter), member 9  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC17A9  solute carrier family 17 (vesicular nucleotide transporter), member 9    solute carrier family 17, member 9  Symbol and/or name change 5135510 APPROVED
2011-07-27 SLC17A9  solute carrier family 17, member 9  C20orf59  chromosome 20 open reading frame 59  Symbol and/or name change 5135510 APPROVED