SLC17A6 (solute carrier family 17 member 6) - Rat Genome Database

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Gene: SLC17A6 (solute carrier family 17 member 6) Homo sapiens
Analyze
Symbol: SLC17A6
Name: solute carrier family 17 member 6
RGD ID: 730912
HGNC Page HGNC:16703
Description: Enables L-glutamate uniporter activity. Involved in L-glutamate import; neurotransmitter loading into synaptic vesicle; and phosphate ion homeostasis. Located in synaptic vesicle membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: differentiation-associated BNPI; differentiation-associated Na(+)-dependent inorganic phosphate cotransporter; differentiation-associated Na-dependent inorganic phosphate cotransporter; DNPI; solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6; solute carrier family 17 (vesicular glutamate transporter), member 6; vesicular glutamate transporter 2; VGLUT2
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
GRCh381122,338,381 - 22,379,503 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1122,338,381 - 22,379,503 (+)EnsemblGRCh38hg38GRCh38
GRCh371122,359,927 - 22,401,049 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361122,316,243 - 22,357,619 (+)NCBINCBI36Build 36hg18NCBI36
Build 341122,316,242 - 22,357,619NCBI
Celera1122,492,722 - 22,534,075 (+)NCBICelera
Cytogenetic Map11p14.3NCBI
HuRef1122,042,899 - 22,084,263 (+)NCBIHuRef
CHM1_11122,359,385 - 22,400,763 (+)NCBICHM1_1
T2T-CHM13v2.01122,458,971 - 22,500,075 (+)NCBIT2T-CHM13v2.0
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
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
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. Age and meloxicam modify the response of the glutamate vesicular transporters (VGLUTs) after transient global cerebral ischemia in the rat brain. Llorente IL, etal., Brain Res Bull. 2013 May;94:90-7. doi: 10.1016/j.brainresbull.2013.02.006. Epub 2013 Feb 28.
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:10820226   PMID:11306821   PMID:11698620   PMID:12477932   PMID:15124103   PMID:16344560   PMID:17531353   PMID:17660252   PMID:18050306   PMID:18155679   PMID:18562601  
PMID:19086053   PMID:19156168   PMID:19839996   PMID:20540360   PMID:20541370   PMID:21873635   PMID:22510271   PMID:22684983   PMID:23453885   PMID:25319687   PMID:25319702   PMID:26167880  
PMID:26386900   PMID:26439639   PMID:30203849   PMID:33440152   PMID:34994539  


Genomics

Comparative Map Data
SLC17A6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381122,338,381 - 22,379,503 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1122,338,381 - 22,379,503 (+)EnsemblGRCh38hg38GRCh38
GRCh371122,359,927 - 22,401,049 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361122,316,243 - 22,357,619 (+)NCBINCBI36Build 36hg18NCBI36
Build 341122,316,242 - 22,357,619NCBI
Celera1122,492,722 - 22,534,075 (+)NCBICelera
Cytogenetic Map11p14.3NCBI
HuRef1122,042,899 - 22,084,263 (+)NCBIHuRef
CHM1_11122,359,385 - 22,400,763 (+)NCBICHM1_1
T2T-CHM13v2.01122,458,971 - 22,500,075 (+)NCBIT2T-CHM13v2.0
Slc17a6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39751,271,578 - 51,320,874 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl751,271,754 - 51,320,867 (+)EnsemblGRCm39 Ensembl
GRCm38751,621,830 - 51,671,126 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl751,622,006 - 51,671,119 (+)EnsemblGRCm38mm10GRCm38
MGSCv37758,877,200 - 58,926,496 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36751,490,086 - 51,539,138 (+)NCBIMGSCv36mm8
Celera749,002,489 - 49,051,776 (+)NCBICelera
Cytogenetic Map7B4NCBI
cM Map732.78NCBI
Slc17a6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81110,348,447 - 110,388,499 (+)NCBIGRCr8
mRatBN7.21101,212,489 - 101,252,543 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1101,212,489 - 101,252,542 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1106,619,563 - 106,659,620 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01115,091,464 - 115,131,521 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01108,395,898 - 108,436,013 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01106,980,463 - 107,038,717 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1106,998,623 - 107,038,704 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01108,040,511 - 108,080,524 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41101,425,975 - 101,466,023 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11101,504,085 - 101,544,133 (+)NCBI
Celera195,386,910 - 95,426,949 (+)NCBICelera
Cytogenetic Map1q22NCBI
Slc17a6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554762,813,368 - 2,854,514 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554762,813,368 - 2,854,371 (+)NCBIChiLan1.0ChiLan1.0
SLC17A6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2924,627,830 - 24,669,284 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11124,591,980 - 24,633,414 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01122,350,537 - 22,392,009 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11122,257,983 - 22,299,443 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1122,258,011 - 22,301,944 (+)Ensemblpanpan1.1panPan2
SLC17A6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12144,015,161 - 44,056,286 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2144,016,133 - 44,054,931 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2143,491,537 - 43,529,754 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02145,131,589 - 45,172,308 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2145,132,360 - 45,172,255 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12144,132,863 - 44,170,882 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02144,305,349 - 44,343,374 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02144,698,060 - 44,736,170 (+)NCBIUU_Cfam_GSD_1.0
Slc17a6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494740,843,801 - 40,886,442 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366543,040,312 - 3,083,669 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366543,039,825 - 3,082,788 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC17A6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl237,098,992 - 37,138,475 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1237,098,983 - 37,138,935 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2240,309,860 - 40,349,435 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC17A6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1142,634,754 - 42,677,309 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl142,636,512 - 42,677,165 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038139,944,822 - 139,988,881 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc17a6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476613,335,130 - 13,376,712 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476613,335,186 - 13,376,634 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC17A6
26 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p14.3(chr11:22080659-22389549)x1 copy number loss See cases [RCV000050800] Chr11:22080659..22389549 [GRCh38]
Chr11:22102205..22411095 [GRCh37]
Chr11:22058781..22367671 [NCBI36]
Chr11:11p14.3		 pathogenic
GRCh38/hg38 11p14.3(chr11:22115602-25375696)x1 copy number loss See cases [RCV000052647] Chr11:22115602..25375696 [GRCh38]
Chr11:22137148..25397242 [GRCh37]
Chr11:22093724..25353818 [NCBI36]
Chr11:11p14.3		 pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13		 pathogenic
NM_020346.2(SLC17A6):c.294G>A (p.Met98Ile) single nucleotide variant Malignant melanoma [RCV000069298] Chr11:22341735 [GRCh38]
Chr11:22363281 [GRCh37]
Chr11:22319857 [NCBI36]
Chr11:11p14.3		 not provided
NM_020346.2(SLC17A6):c.731C>T (p.Ser244Leu) single nucleotide variant Malignant melanoma [RCV000069300] Chr11:22362808 [GRCh38]
Chr11:22384354 [GRCh37]
Chr11:22340930 [NCBI36]
Chr11:11p14.3		 not provided
NM_020346.2(SLC17A6):c.458+6195C>A single nucleotide variant Lung cancer [RCV000109925] Chr11:22349560 [GRCh38]
Chr11:22371106 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_020346.2(SLC17A6):c.459-1772G>T single nucleotide variant Lung cancer [RCV000109926] Chr11:22357641 [GRCh38]
Chr11:22379187 [GRCh37]
Chr11:11p14.3		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
GRCh38/hg38 11p15.1-14.2(chr11:21838014-26738627)x3 copy number gain See cases [RCV000137849] Chr11:21838014..26738627 [GRCh38]
Chr11:21859560..26760174 [GRCh37]
Chr11:21816136..26716750 [NCBI36]
Chr11:11p15.1-14.2		 uncertain significance
GRCh38/hg38 11p14.3(chr11:22195749-22953436)x1 copy number loss See cases [RCV000140704] Chr11:22195749..22953436 [GRCh38]
Chr11:22217295..22974982 [GRCh37]
Chr11:22173871..22931558 [NCBI36]
Chr11:11p14.3		 uncertain significance
GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1 copy number loss See cases [RCV000142499] Chr11:20079474..34463996 [GRCh38]
Chr11:20101020..34485543 [GRCh37]
Chr11:20057596..34442119 [NCBI36]
Chr11:11p15.1-13		 pathogenic
GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1 copy number loss Aniridia 1 [RCV000420782] Chr11:18536224..31923308 [GRCh37]
Chr11:11p15.1-13		 pathogenic
GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1 copy number loss Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome [RCV000435400] Chr11:21586131..33168232 [GRCh37]
Chr11:11p15.1-13		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p14.3(chr11:22026376-23809369)x3 copy number gain not provided [RCV000585511] Chr11:22026376..23809369 [GRCh37]
Chr11:11p14.3		 uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3		 pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13		 pathogenic
Single allele deletion not provided [RCV000677987] Chr11:22219999..22687901 [GRCh38]
Chr11:22241544..22709446 [GRCh37]
Chr11:11p14.3		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_020346.3(SLC17A6):c.1572C>A (p.Leu524=) single nucleotide variant not provided [RCV000903149] Chr11:22377563 [GRCh38]
Chr11:22399109 [GRCh37]
Chr11:11p14.3		 benign
NM_020346.3(SLC17A6):c.836G>A (p.Arg279His) single nucleotide variant Inborn genetic diseases [RCV003266373] Chr11:22365634 [GRCh38]
Chr11:22387180 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_020346.3(SLC17A6):c.1652A>G (p.Asn551Ser) single nucleotide variant not provided [RCV000967195] Chr11:22377643 [GRCh38]
Chr11:22399189 [GRCh37]
Chr11:11p14.3		 benign
GRCh37/hg19 11p14.3(chr11:22024933-22717219)x1 copy number loss not provided [RCV000848170] Chr11:22024933..22717219 [GRCh37]
Chr11:11p14.3		 uncertain significance
GRCh37/hg19 11p14.3(chr11:22024933-22717219)x1 copy number loss not provided [RCV000848171] Chr11:22024933..22717219 [GRCh37]
Chr11:11p14.3		 uncertain significance
GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3 copy number gain not provided [RCV001006387] Chr11:11053978..34732891 [GRCh37]
Chr11:11p15.3-13		 pathogenic
GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3 copy number gain not provided [RCV001006388] Chr11:13970757..27565888 [GRCh37]
Chr11:11p15.2-14.1		 pathogenic
GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1 copy number loss not provided [RCV000849589] Chr11:22079154..35597645 [GRCh37]
Chr11:11p14.3-13		 pathogenic
GRCh37/hg19 11p15.1-14.3(chr11:21370750-23441691)x4 copy number gain not provided [RCV000847535] Chr11:21370750..23441691 [GRCh37]
Chr11:11p15.1-14.3		 uncertain significance
GRCh37/hg19 11p14.3(chr11:22045818-22472335)x1 copy number loss not provided [RCV000848158] Chr11:22045818..22472335 [GRCh37]
Chr11:11p14.3		 uncertain significance
GRCh37/hg19 11p14.3(chr11:22240672-22739036)x1 copy number loss not provided [RCV001006394] Chr11:22240672..22739036 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_020346.3(SLC17A6):c.1212C>T (p.Gly404=) single nucleotide variant not provided [RCV000963576] Chr11:22376019 [GRCh38]
Chr11:22397565 [GRCh37]
Chr11:11p14.3		 benign
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13		 pathogenic
GRCh37/hg19 11p14.3(chr11:21970753-22457449)x3 copy number gain not provided [RCV001006393] Chr11:21970753..22457449 [GRCh37]
Chr11:11p14.3		 uncertain significance
GRCh37/hg19 11p14.3(chr11:22290214-23743998)x3 copy number gain not provided [RCV001006395] Chr11:22290214..23743998 [GRCh37]
Chr11:11p14.3		 uncertain significance
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2		 pathogenic
NM_020346.3(SLC17A6):c.1625A>G (p.Lys542Arg) single nucleotide variant Inborn genetic diseases [RCV002753564] Chr11:22377616 [GRCh38]
Chr11:22399162 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_020346.3(SLC17A6):c.1735G>A (p.Val579Ile) single nucleotide variant Inborn genetic diseases [RCV002689752] Chr11:22377726 [GRCh38]
Chr11:22399272 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_020346.3(SLC17A6):c.47T>G (p.Leu16Arg) single nucleotide variant Inborn genetic diseases [RCV002906942] Chr11:22338580 [GRCh38]
Chr11:22360126 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_020346.3(SLC17A6):c.300C>G (p.Asn100Lys) single nucleotide variant Inborn genetic diseases [RCV002841185] Chr11:22341741 [GRCh38]
Chr11:22363287 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_020346.3(SLC17A6):c.169G>T (p.Ala57Ser) single nucleotide variant Inborn genetic diseases [RCV002848623] Chr11:22341610 [GRCh38]
Chr11:22363156 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_020346.3(SLC17A6):c.880G>A (p.Gly294Ser) single nucleotide variant Inborn genetic diseases [RCV002660280] Chr11:22365678 [GRCh38]
Chr11:22387224 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_020346.3(SLC17A6):c.1484C>T (p.Ala495Val) single nucleotide variant Inborn genetic diseases [RCV002826641] Chr11:22377475 [GRCh38]
Chr11:22399021 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_020346.3(SLC17A6):c.478C>A (p.Leu160Ile) single nucleotide variant Inborn genetic diseases [RCV002803516] Chr11:22359432 [GRCh38]
Chr11:22380978 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_020346.3(SLC17A6):c.115G>A (p.Glu39Lys) single nucleotide variant Inborn genetic diseases [RCV002697766] Chr11:22341556 [GRCh38]
Chr11:22363102 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_020346.3(SLC17A6):c.223A>G (p.Ile75Val) single nucleotide variant Inborn genetic diseases [RCV002891714] Chr11:22341664 [GRCh38]
Chr11:22363210 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_020346.3(SLC17A6):c.109A>G (p.Thr37Ala) single nucleotide variant Inborn genetic diseases [RCV002648696] Chr11:22341550 [GRCh38]
Chr11:22363096 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_020346.3(SLC17A6):c.1539A>C (p.Glu513Asp) single nucleotide variant Inborn genetic diseases [RCV002831737] Chr11:22377530 [GRCh38]
Chr11:22399076 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_020346.3(SLC17A6):c.323G>A (p.Gly108Asp) single nucleotide variant Inborn genetic diseases [RCV003183136] Chr11:22341764 [GRCh38]
Chr11:22363310 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_020346.3(SLC17A6):c.40G>A (p.Glu14Lys) single nucleotide variant Inborn genetic diseases [RCV003200794] Chr11:22338573 [GRCh38]
Chr11:22360119 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_020346.3(SLC17A6):c.762G>A (p.Met254Ile) single nucleotide variant Inborn genetic diseases [RCV003205523] Chr11:22365560 [GRCh38]
Chr11:22387106 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_020346.3(SLC17A6):c.77A>G (p.Gln26Arg) single nucleotide variant Inborn genetic diseases [RCV003286705] Chr11:22338610 [GRCh38]
Chr11:22360156 [GRCh37]
Chr11:11p14.3		 uncertain significance
NM_020346.3(SLC17A6):c.1566T>G (p.Asp522Glu) single nucleotide variant Inborn genetic diseases [RCV003385118] Chr11:22377557 [GRCh38]
Chr11:22399103 [GRCh37]
Chr11:11p14.3		 uncertain significance
GRCh37/hg19 11p14.3(chr11:22207494-22985845)x1 copy number loss not specified [RCV003986916] Chr11:22207494..22985845 [GRCh37]
Chr11:11p14.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:665
Count of miRNA genes:453
Interacting mature miRNAs:508
Transcripts:ENST00000263160, ENST00000534115
Prediction methods: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.

Markers in Region
D11S2049  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371122,361,794 - 22,362,011UniSTSGRCh37
Build 361122,318,370 - 22,318,587RGDNCBI36
Celera1122,494,819 - 22,495,036RGD
Cytogenetic Map11p14.3UniSTS
HuRef1122,045,005 - 22,045,222UniSTS
D11S865  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371122,360,274 - 22,360,439UniSTSGRCh37
Build 361122,316,850 - 22,317,015RGDNCBI36
Celera1122,493,329 - 22,493,494RGD
Cytogenetic Map11p14.3UniSTS
HuRef1122,043,506 - 22,043,673UniSTS


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
High
Medium 55 3 290 1 16
Low 1 223 1 32 2 1301 3 5 23 1 1 2 11
Below cutoff 264 336 174 46 158 25 965 312 1396 14 405 211 23 129 621

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000263160   ⟹   ENSP00000263160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1122,338,381 - 22,379,503 (+)Ensembl
RefSeq Acc Id: ENST00000534115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1122,342,977 - 22,360,965 (+)Ensembl
RefSeq Acc Id: ENST00000648880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1122,359,477 - 22,366,369 (+)Ensembl
RefSeq Acc Id: NM_020346   ⟹   NP_065079
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,338,381 - 22,379,503 (+)NCBI
GRCh371122,359,667 - 22,401,049 (+)ENTREZGENE
Build 361122,316,243 - 22,357,619 (+)NCBI Archive
HuRef1122,042,899 - 22,084,263 (+)ENTREZGENE
CHM1_11122,359,385 - 22,400,763 (+)NCBI
T2T-CHM13v2.01122,458,971 - 22,500,075 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_065079   ⟸   NM_020346
- UniProtKB: A6NKS2 (UniProtKB/Swiss-Prot),   Q9P2U8 (UniProtKB/Swiss-Prot),   B4DGA8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000263160   ⟸   ENST00000263160
Protein Domains
Major facilitator superfamily (MFS) profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9P2U8-F1-model_v2 AlphaFold Q9P2U8 1-582 view protein structure

Promoters
RGD ID:7219855
Promoter ID:EPDNEW_H15673
Type:initiation region
Name:SLC17A6_1
Description:solute carrier family 17 member 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15674  EPDNEW_H15675  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,337,772 - 22,337,832EPDNEW
RGD ID:7219857
Promoter ID:EPDNEW_H15674
Type:initiation region
Name:SLC17A6_2
Description:solute carrier family 17 member 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15673  EPDNEW_H15675  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,337,922 - 22,337,982EPDNEW
RGD ID:7219859
Promoter ID:EPDNEW_H15675
Type:initiation region
Name:SLC17A6_3
Description:solute carrier family 17 member 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15673  EPDNEW_H15674  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,338,381 - 22,338,441EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16703 AgrOrtholog
COSMIC SLC17A6 COSMIC
Ensembl Genes ENSG00000091664 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000263160 ENTREZGENE
  ENST00000263160.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1250.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000091664 GTEx
HGNC ID HGNC:16703 ENTREZGENE
Human Proteome Map SLC17A6 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
KEGG Report hsa:57084 UniProtKB/Swiss-Prot
NCBI Gene 57084 ENTREZGENE
OMIM 607563 OMIM
PANTHER SOLUTE CARRIER FAMILY 17 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VESICULAR GLUTAMATE TRANSPORTER 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MFS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA424 PharmGKB
PROSITE MFS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP MFS general substrate transporter UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt A6NKS2 ENTREZGENE
  B4DGA8 ENTREZGENE, UniProtKB/TrEMBL
  L0R6P3_HUMAN UniProtKB/TrEMBL
  L8ECI6_HUMAN UniProtKB/TrEMBL
  Q9P2U8 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6NKS2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC17A6  solute carrier family 17 member 6    solute carrier family 17 (vesicular glutamate transporter), member 6  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC17A6  solute carrier family 17 (vesicular glutamate transporter), member 6    solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6  Symbol and/or name change 5135510 APPROVED