SLC30A7 (solute carrier family 30 member 7) - Rat Genome Database

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Gene: SLC30A7 (solute carrier family 30 member 7) Homo sapiens
Analyze
Symbol: SLC30A7
Name: solute carrier family 30 member 7
RGD ID: 1317319
HGNC Page HGNC:19306
Description: Enables zinc ion transmembrane transporter activity. Involved in zinc ion import into Golgi lumen. Located in Golgi cis cisterna membrane and vesicle.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DKFZp686M0368; RP11-421L21.2; solute carrier family 30 (zinc transporter), member 7; ZHS; zinc transporter 7; zinc transporter like 2; zinc transporter ZnT-7; ZnT-7; znt-like transporter 2; ZNT7; ZnTL2
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
GRCh381100,896,090 - 100,996,078 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1100,896,076 - 100,981,757 (+)EnsemblGRCh38hg38GRCh38
GRCh371101,361,646 - 101,447,313 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361101,134,266 - 101,217,596 (+)NCBINCBI36Build 36hg18NCBI36
Build 341101,073,698 - 101,157,013NCBI
Celera199,623,317 - 99,709,033 (+)NCBICelera
Cytogenetic Map1p21.2NCBI
HuRef199,486,731 - 99,572,449 (+)NCBIHuRef
CHM1_11101,477,771 - 101,563,137 (+)NCBICHM1_1
T2T-CHM13v2.01100,744,936 - 100,844,787 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11076863   PMID:11230166   PMID:11256614   PMID:12446736   PMID:12477932   PMID:14702039   PMID:15154973   PMID:15276077   PMID:15489336   PMID:15525635   PMID:15994300   PMID:16344560  
PMID:16381901   PMID:17349999   PMID:17353931   PMID:17971500   PMID:18029348   PMID:18639746   PMID:19064571   PMID:19322201   PMID:21462106   PMID:21833088   PMID:21873635   PMID:22190034  
PMID:22810586   PMID:23275032   PMID:23376485   PMID:26186194   PMID:26496610   PMID:26638075   PMID:26972000   PMID:28514442   PMID:28558300   PMID:28692057   PMID:29180619   PMID:29509190  
PMID:29987050   PMID:30194290   PMID:30833792   PMID:31056421   PMID:31527615   PMID:32353859   PMID:33060197   PMID:33144569   PMID:33545068   PMID:33649534   PMID:33853758   PMID:33961781  
PMID:34011540   PMID:34079125   PMID:34432599   PMID:34597346   PMID:34709727   PMID:34882091   PMID:35271311   PMID:35607288   PMID:35696571   PMID:35751429   PMID:36114006   PMID:36180527  
PMID:36604567   PMID:36821639   PMID:37827155   PMID:38113892   PMID:38393693  


Genomics

Comparative Map Data
SLC30A7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381100,896,090 - 100,996,078 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1100,896,076 - 100,981,757 (+)EnsemblGRCh38hg38GRCh38
GRCh371101,361,646 - 101,447,313 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361101,134,266 - 101,217,596 (+)NCBINCBI36Build 36hg18NCBI36
Build 341101,073,698 - 101,157,013NCBI
Celera199,623,317 - 99,709,033 (+)NCBICelera
Cytogenetic Map1p21.2NCBI
HuRef199,486,731 - 99,572,449 (+)NCBIHuRef
CHM1_11101,477,771 - 101,563,137 (+)NCBICHM1_1
T2T-CHM13v2.01100,744,936 - 100,844,787 (+)NCBIT2T-CHM13v2.0
Slc30a7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393115,732,622 - 115,801,079 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3115,732,622 - 115,801,055 (-)EnsemblGRCm39 Ensembl
GRCm383115,938,973 - 116,007,414 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3115,938,973 - 116,007,406 (-)EnsemblGRCm38mm10GRCm38
MGSCv373115,641,891 - 115,710,324 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363115,937,949 - 115,999,383 (-)NCBIMGSCv36mm8
Celera3122,363,550 - 122,431,860 (-)NCBICelera
Cytogenetic Map3G1NCBI
cM Map350.16NCBI
Slc30a7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82206,544,800 - 206,607,087 (-)NCBIGRCr8
mRatBN7.22203,855,484 - 203,922,155 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2203,859,175 - 203,922,132 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2211,516,928 - 211,578,975 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02209,407,159 - 209,469,557 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02204,224,186 - 204,286,586 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02218,888,431 - 218,951,030 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2218,888,431 - 218,951,030 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02236,974,683 - 237,037,073 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42212,088,266 - 212,162,896 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12212,051,764 - 212,125,500 (-)NCBI
Celera2196,361,269 - 196,423,031 (-)NCBICelera
Cytogenetic Map2q42NCBI
Slc30a7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554355,530,591 - 5,609,613 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554355,530,591 - 5,609,613 (+)NCBIChiLan1.0ChiLan1.0
SLC30A7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21126,027,731 - 126,133,290 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11125,205,627 - 125,291,318 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01103,552,661 - 103,636,019 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11102,265,976 - 102,351,022 (+)NCBIpanpan1.1PanPan1.1panPan2
SLC30A7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1649,142,520 - 49,232,251 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl649,147,142 - 49,232,241 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha651,813,311 - 51,903,516 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0649,486,715 - 49,577,244 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl649,486,714 - 49,577,163 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1649,179,708 - 49,270,177 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0649,159,270 - 49,249,743 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0649,588,864 - 49,679,623 (-)NCBIUU_Cfam_GSD_1.0
Slc30a7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405058111,105,144 - 111,178,451 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936748910,511 - 987,094 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936748910,542 - 985,601 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC30A7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4117,314,845 - 117,396,495 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14117,320,229 - 117,396,383 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24128,858,156 - 128,940,513 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC30A7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12032,355,201 - 32,457,491 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2032,377,130 - 32,457,490 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603825,612,890 - 25,712,201 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc30a7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248573,757,751 - 3,854,761 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248573,757,359 - 3,856,431 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC30A7
40 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p31.1-13.3(chr1:72661709-107456880)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|See cases [RCV000051825] Chr1:72661709..107456880 [GRCh38]
Chr1:73127392..107999502 [GRCh37]
Chr1:72899980..107801025 [NCBI36]
Chr1:1p31.1-13.3		 pathogenic
GRCh38/hg38 1p21.3-13.3(chr1:98557000-107949047)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053878]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053878]|See cases [RCV000053878] Chr1:98557000..107949047 [GRCh38]
Chr1:99022556..108491669 [GRCh37]
Chr1:98795144..108293192 [NCBI36]
Chr1:1p21.3-13.3		 pathogenic
GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1 copy number loss See cases [RCV000053877] Chr1:97410602..110670510 [GRCh38]
Chr1:97876158..111213132 [GRCh37]
Chr1:97648746..111014655 [NCBI36]
Chr1:1p21.3-13.3		 pathogenic
NM_001144884.1(SLC30A7):c.296+1215A>T single nucleotide variant Lung cancer [RCV000089641] Chr1:100908180 [GRCh38]
Chr1:101373736 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_015958.3(DPH5):c.779A>G (p.His260Arg) single nucleotide variant Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties [RCV002287886] Chr1:100990487 [GRCh38]
Chr1:101456043 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_133496.5(SLC30A7):c.21dup (p.Asp8fs) duplication Decreased testicular size [RCV003164487]|Ziegler-Huang syndrome [RCV003326014] Chr1:100896280..100896281 [GRCh38]
Chr1:101361836..101361837 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1 copy number loss See cases [RCV000135333] Chr1:97272349..108893138 [GRCh38]
Chr1:97737905..109435760 [GRCh37]
Chr1:97510493..109237283 [NCBI36]
Chr1:1p21.3-13.3		 pathogenic
GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3 copy number gain See cases [RCV000135654] Chr1:83457325..104273917 [GRCh38]
Chr1:83923008..104816539 [GRCh37]
Chr1:83695596..104618062 [NCBI36]
Chr1:1p31.1-21.1		 pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
NM_015958.3(DPH5):c.619C>T (p.Arg207Ter) single nucleotide variant DPH5-related diphthamide-deficiency syndrome [RCV003492750]|Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties [RCV002287887] Chr1:100992652 [GRCh38]
Chr1:101458208 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_133496.5(SLC30A7):c.490_491delinsAG (p.His164Ser) indel Joubert syndrome 1 [RCV000416450] Chr1:100912217..100912218 [GRCh38]
Chr1:101377773..101377774 [GRCh37]
Chr1:1p21.2		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_015958.3(DPH5):c.797T>C (p.Met266Thr) single nucleotide variant not specified [RCV004331788] Chr1:100990469 [GRCh38]
Chr1:101456025 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_133496.5(SLC30A7):c.356C>A (p.Ala119Asp) single nucleotide variant not specified [RCV004308358] Chr1:100911122 [GRCh38]
Chr1:101376678 [GRCh37]
Chr1:1p21.2		 uncertain significance
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 copy number gain See cases [RCV000512354] Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p22.1-13.3(chr1:94054724-111671707)x3 copy number gain not provided [RCV000749068] Chr1:94054724..111671707 [GRCh37]
Chr1:1p22.1-13.3		 pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
NM_133496.5(SLC30A7):c.71G>A (p.Gly24Asp) single nucleotide variant not specified [RCV004298014] Chr1:100896333 [GRCh38]
Chr1:101361889 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_133496.5(SLC30A7):c.82T>G (p.Ser28Ala) single nucleotide variant not specified [RCV004320719] Chr1:100896571 [GRCh38]
Chr1:101362127 [GRCh37]
Chr1:1p21.2		 uncertain significance
NC_000001.10:g.(?_100316599)_(101709564_?)dup duplication Maple syrup urine disease [RCV003107553] Chr1:100316599..101709564 [GRCh37]
Chr1:1p21.2		 uncertain significance
Single allele deletion Seizure [RCV001281486] Chr1:101326711..104423819 [GRCh37]
Chr1:1p21.2-21.1		 uncertain significance
GRCh37/hg19 1p21.2-21.1(chr1:100215607-105368230)x1 copy number loss not provided [RCV001834415] Chr1:100215607..105368230 [GRCh37]
Chr1:1p21.2-21.1		 uncertain significance
NM_133496.5(SLC30A7):c.912T>C (p.Ser304=) single nucleotide variant not provided [RCV002025482] Chr1:100961897 [GRCh38]
Chr1:101427453 [GRCh37]
Chr1:1p21.2		 likely benign
GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931) copy number loss not specified [RCV002053503] Chr1:95046805..114714931 [GRCh37]
Chr1:1p21.3-13.2		 pathogenic
NM_133496.5(SLC30A7):c.721A>G (p.Ile241Val) single nucleotide variant not provided [RCV002022954] Chr1:100921720 [GRCh38]
Chr1:101387276 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_133496.5(SLC30A7):c.566A>G (p.His189Arg) single nucleotide variant not provided [RCV002039126]|not specified [RCV004044827] Chr1:100913717 [GRCh38]
Chr1:101379273 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_133496.5(SLC30A7):c.556G>A (p.Ala186Thr) single nucleotide variant not provided [RCV001990298] Chr1:100913707 [GRCh38]
Chr1:101379263 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_133496.5(SLC30A7):c.663G>A (p.Pro221=) single nucleotide variant not provided [RCV002106421] Chr1:100918084 [GRCh38]
Chr1:101383640 [GRCh37]
Chr1:1p21.2		 likely benign
NM_133496.5(SLC30A7):c.765C>T (p.Ala255=) single nucleotide variant not provided [RCV002179090] Chr1:100921764 [GRCh38]
Chr1:101387320 [GRCh37]
Chr1:1p21.2		 likely benign
NM_133496.5(SLC30A7):c.506G>A (p.Gly169Asp) single nucleotide variant not provided [RCV002118650] Chr1:100912233 [GRCh38]
Chr1:101377789 [GRCh37]
Chr1:1p21.2		 benign
NM_133496.5(SLC30A7):c.647A>G (p.His216Arg) single nucleotide variant not provided [RCV002614952]|not specified [RCV004068865] Chr1:100913798 [GRCh38]
Chr1:101379354 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_133496.5(SLC30A7):c.785G>A (p.Gly262Asp) single nucleotide variant not provided [RCV002979748]|not specified [RCV004065288] Chr1:100921784 [GRCh38]
Chr1:101387340 [GRCh37]
Chr1:1p21.2		 benign|uncertain significance
NM_133496.5(SLC30A7):c.547C>G (p.Leu183Val) single nucleotide variant not specified [RCV004156884] Chr1:100913698 [GRCh38]
Chr1:101379254 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_015958.3(DPH5):c.706A>C (p.Thr236Pro) single nucleotide variant not specified [RCV004218931] Chr1:100990560 [GRCh38]
Chr1:101456116 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_015958.3(DPH5):c.686A>C (p.Asp229Ala) single nucleotide variant not specified [RCV004149858] Chr1:100990580 [GRCh38]
Chr1:101456136 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_133496.5(SLC30A7):c.910A>G (p.Ser304Gly) single nucleotide variant not provided [RCV002663135] Chr1:100961895 [GRCh38]
Chr1:101427451 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_133496.5(SLC30A7):c.662C>T (p.Pro221Leu) single nucleotide variant not specified [RCV004216054] Chr1:100918083 [GRCh38]
Chr1:101383639 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_133496.5(SLC30A7):c.38C>T (p.Pro13Leu) single nucleotide variant not specified [RCV004191830] Chr1:100896300 [GRCh38]
Chr1:101361856 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_133496.5(SLC30A7):c.409C>T (p.His137Tyr) single nucleotide variant not specified [RCV004175112] Chr1:100912136 [GRCh38]
Chr1:101377692 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_015958.3(DPH5):c.791T>G (p.Met264Arg) single nucleotide variant not specified [RCV004226234] Chr1:100990475 [GRCh38]
Chr1:101456031 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_133496.5(SLC30A7):c.696G>C (p.Gln232His) single nucleotide variant not specified [RCV004122409] Chr1:100918117 [GRCh38]
Chr1:101383673 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_133496.5(SLC30A7):c.460A>G (p.Ile154Val) single nucleotide variant not specified [RCV004227914] Chr1:100912187 [GRCh38]
Chr1:101377743 [GRCh37]
Chr1:1p21.2		 likely benign
NM_133496.5(SLC30A7):c.89T>C (p.Leu30Pro) single nucleotide variant not specified [RCV004149411] Chr1:100896578 [GRCh38]
Chr1:101362134 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_133496.5(SLC30A7):c.80+6G>C single nucleotide variant not provided [RCV002715338] Chr1:100896348 [GRCh38]
Chr1:101361904 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_133496.5(SLC30A7):c.653A>G (p.His218Arg) single nucleotide variant not provided [RCV002654070] Chr1:100913804 [GRCh38]
Chr1:101379360 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_133496.5(SLC30A7):c.1084G>A (p.Ala362Thr) single nucleotide variant not specified [RCV004280241] Chr1:100974810 [GRCh38]
Chr1:101440366 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_133496.5(SLC30A7):c.842+15T>C single nucleotide variant Testicular atrophy [RCV003222416]|Ziegler-Huang syndrome [RCV003326015] Chr1:100921856 [GRCh38]
Chr1:101387412 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_133496.5(SLC30A7):c.1066C>A (p.His356Asn) single nucleotide variant not specified [RCV004249143] Chr1:100965901 [GRCh38]
Chr1:101431457 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_133496.5(SLC30A7):c.461T>C (p.Ile154Thr) single nucleotide variant not specified [RCV004261027] Chr1:100912188 [GRCh38]
Chr1:101377744 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_015958.3(DPH5):c.769G>A (p.Gly257Ser) single nucleotide variant not specified [RCV004358505] Chr1:100990497 [GRCh38]
Chr1:101456053 [GRCh37]
Chr1:1p21.2		 uncertain significance
GRCh37/hg19 1p21.2-21.1(chr1:100146136-106580074)x1 copy number loss not provided [RCV003483238] Chr1:100146136..106580074 [GRCh37]
Chr1:1p21.2-21.1		 uncertain significance
GRCh37/hg19 1p21.2(chr1:101386745-101479579)x1 copy number loss not provided [RCV003483249] Chr1:101386745..101479579 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_133496.5(SLC30A7):c.172T>A (p.Trp58Arg) single nucleotide variant not provided [RCV003879050] Chr1:100896661 [GRCh38]
Chr1:101362217 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_133496.5(SLC30A7):c.42C>G (p.Pro14=) single nucleotide variant not provided [RCV003824065] Chr1:100896304 [GRCh38]
Chr1:101361860 [GRCh37]
Chr1:1p21.2		 likely benign
NM_133496.5(SLC30A7):c.826A>G (p.Ile276Val) single nucleotide variant not provided [RCV003732648] Chr1:100921825 [GRCh38]
Chr1:101387381 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_133496.5(SLC30A7):c.7C>A (p.Pro3Thr) single nucleotide variant not provided [RCV003553886] Chr1:100896269 [GRCh38]
Chr1:101361825 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_015958.3(DPH5):c.540G>T (p.Lys180Asn) single nucleotide variant not specified [RCV004384335] Chr1:100992731 [GRCh38]
Chr1:101458287 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_015958.3(DPH5):c.685G>A (p.Asp229Asn) single nucleotide variant not specified [RCV004384336] Chr1:100990581 [GRCh38]
Chr1:101456137 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_133496.5(SLC30A7):c.923G>A (p.Cys308Tyr) single nucleotide variant not specified [RCV004459151] Chr1:100961908 [GRCh38]
Chr1:101427464 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_133496.5(SLC30A7):c.565C>G (p.His189Asp) single nucleotide variant not specified [RCV004459150] Chr1:100913716 [GRCh38]
Chr1:101379272 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_133496.5(SLC30A7):c.929A>G (p.Gln310Arg) single nucleotide variant not specified [RCV004459152] Chr1:100961914 [GRCh38]
Chr1:101427470 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_015958.3(DPH5):c.817C>A (p.Pro273Thr) single nucleotide variant not specified [RCV004384337] Chr1:100990449 [GRCh38]
Chr1:101456005 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_133496.5(SLC30A7):c.515A>G (p.His172Arg) single nucleotide variant not specified [RCV004459149] Chr1:100913666 [GRCh38]
Chr1:101379222 [GRCh37]
Chr1:1p21.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2486
Count of miRNA genes:1060
Interacting mature miRNAs:1287
Transcripts:ENST00000357650, ENST00000370111, ENST00000370112
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
D1S1154  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371101,380,459 - 101,380,848UniSTSGRCh37
Celera199,642,139 - 99,642,532UniSTS
Cytogenetic Map1p21.2UniSTS
HuRef199,505,553 - 99,505,946UniSTS
Marshfield Genetic Map1134.2UniSTS
Marshfield Genetic Map1134.2RGD
RH64505  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371101,388,064 - 101,388,211UniSTSGRCh37
Build 361101,160,652 - 101,160,799RGDNCBI36
Celera199,649,747 - 99,649,894RGD
Cytogenetic Map1p21.2UniSTS
HuRef199,513,161 - 99,513,308UniSTS
GeneMap99-GB4 RH Map1298.45UniSTS
NCBI RH Map1719.9UniSTS
WI-17896  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371101,444,869 - 101,444,969UniSTSGRCh37
Build 361101,217,457 - 101,217,557RGDNCBI36
Celera199,706,592 - 99,706,692RGD
Cytogenetic Map1p21.2UniSTS
HuRef199,570,012 - 99,570,112UniSTS
GeneMap99-GB4 RH Map1298.75UniSTS
GeneMap99-GB4 RH Map1300.45UniSTS
Whitehead-RH Map1312.8UniSTS
NCBI RH Map1717.6UniSTS
RH70028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371101,447,008 - 101,447,190UniSTSGRCh37
Build 361101,219,596 - 101,219,778RGDNCBI36
Celera199,708,730 - 99,708,912RGD
Cytogenetic Map1p21.2UniSTS
HuRef199,572,146 - 99,572,328UniSTS
GeneMap99-GB4 RH Map1298.75UniSTS
NCBI RH Map1716.5UniSTS
SHGC-75236  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371101,443,114 - 101,443,246UniSTSGRCh37
Build 361101,215,702 - 101,215,834RGDNCBI36
Celera199,704,837 - 99,704,969RGD
Cytogenetic Map1p21.2UniSTS
TNG Radiation Hybrid Map155646.0UniSTS
GeneMap99-GB4 RH Map1300.25UniSTS
NCBI RH Map1715.3UniSTS
SHGC-75235  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371101,444,913 - 101,444,987UniSTSGRCh37
Build 361101,217,501 - 101,217,575RGDNCBI36
Celera199,706,636 - 99,706,710RGD
Cytogenetic Map1p21.2UniSTS
HuRef199,570,056 - 99,570,130UniSTS
TNG Radiation Hybrid Map155646.0UniSTS
GeneMap99-GB4 RH Map1297.02UniSTS
Whitehead-RH Map1306.6UniSTS
NCBI RH Map1708.3UniSTS
SHGC-75215  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371101,401,340 - 101,401,494UniSTSGRCh37
Build 361101,173,928 - 101,174,082RGDNCBI36
Celera199,663,023 - 99,663,177RGD
Cytogenetic Map1p21.2UniSTS
HuRef199,526,440 - 99,526,594UniSTS
TNG Radiation Hybrid Map155669.0UniSTS
GeneMap99-GB4 RH Map1292.64UniSTS
STS-M78355  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371101,388,068 - 101,388,168UniSTSGRCh37
Build 361101,160,656 - 101,160,756RGDNCBI36
Celera199,649,751 - 99,649,851RGD
Cytogenetic Map1p21.2UniSTS
HuRef199,513,165 - 99,513,265UniSTS
GeneMap99-GB4 RH Map1282.36UniSTS
SHGC-75231  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371101,447,073 - 101,447,227UniSTSGRCh37
Build 361101,219,661 - 101,219,815RGDNCBI36
Celera199,708,795 - 99,708,949RGD
Cytogenetic Map1p21.2UniSTS
HuRef199,572,211 - 99,572,365UniSTS
TNG Radiation Hybrid Map155653.0UniSTS
GeneMap99-GB4 RH Map1295.36UniSTS
D1S299E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371101,388,063 - 101,388,271UniSTSGRCh37
Build 361101,160,651 - 101,160,859RGDNCBI36
Celera199,649,746 - 99,649,954RGD
Cytogenetic Map1p21.2UniSTS
HuRef199,513,160 - 99,513,368UniSTS
Stanford-G3 RH Map14901.0UniSTS
NCBI RH Map1720.1UniSTS
GeneMap99-G3 RH Map14857.0UniSTS


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 adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 416 314 913 255 856 146 1633 142 769 192 598 1341 121 554 879 4
Low 2017 2655 810 368 1084 318 2718 2043 2927 225 851 268 50 650 1905 1
Below cutoff 2 18 2 11 1 4 9 23 2 8 3 2 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001144884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_133496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_246237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC093157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF233345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF529197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL732465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX556911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY094606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA997188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000357650   ⟹   ENSP00000350278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1100,896,090 - 100,981,757 (+)Ensembl
RefSeq Acc Id: ENST00000370111   ⟹   ENSP00000359129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1100,961,828 - 100,972,658 (+)Ensembl
RefSeq Acc Id: ENST00000370112   ⟹   ENSP00000359130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1100,896,076 - 100,981,753 (+)Ensembl
RefSeq Acc Id: NM_001144884   ⟹   NP_001138356
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381100,896,090 - 100,981,757 (+)NCBI
GRCh371101,361,632 - 101,552,821 (+)NCBI
Celera199,623,317 - 99,709,033 (+)RGD
HuRef199,486,731 - 99,572,449 (+)ENTREZGENE
CHM1_11101,477,771 - 101,563,137 (+)NCBI
T2T-CHM13v2.01100,744,936 - 100,830,589 (+)NCBI
Sequence:
RefSeq Acc Id: NM_133496   ⟹   NP_598003
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381100,896,090 - 100,981,757 (+)NCBI
GRCh371101,361,632 - 101,552,821 (+)NCBI
Build 361101,134,266 - 101,217,596 (+)NCBI Archive
Celera199,623,317 - 99,709,033 (+)RGD
HuRef199,486,731 - 99,572,449 (+)ENTREZGENE
CHM1_11101,477,773 - 101,563,137 (+)NCBI
T2T-CHM13v2.01100,744,936 - 100,830,589 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017000400   ⟹   XP_016855889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381100,896,090 - 100,996,078 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017000401   ⟹   XP_016855890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381100,896,090 - 100,932,117 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054334606   ⟹   XP_054190581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01100,744,936 - 100,844,787 (+)NCBI
RefSeq Acc Id: XM_054334607   ⟹   XP_054190582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01100,744,936 - 100,780,954 (+)NCBI
RefSeq Acc Id: XR_008485933
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01100,744,936 - 100,844,787 (+)NCBI
RefSeq Acc Id: XR_246237
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381100,896,090 - 100,996,078 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001138356   ⟸   NM_001144884
- UniProtKB: D3DT61 (UniProtKB/Swiss-Prot),   B2R949 (UniProtKB/Swiss-Prot),   Q8TCH2 (UniProtKB/Swiss-Prot),   Q8NEW0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_598003   ⟸   NM_133496
- UniProtKB: D3DT61 (UniProtKB/Swiss-Prot),   B2R949 (UniProtKB/Swiss-Prot),   Q8TCH2 (UniProtKB/Swiss-Prot),   Q8NEW0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016855889   ⟸   XM_017000400
- Peptide Label: isoform X1
- UniProtKB: D3DT61 (UniProtKB/Swiss-Prot),   B2R949 (UniProtKB/Swiss-Prot),   Q8TCH2 (UniProtKB/Swiss-Prot),   Q8NEW0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016855890   ⟸   XM_017000401
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000359129   ⟸   ENST00000370111
RefSeq Acc Id: ENSP00000359130   ⟸   ENST00000370112
RefSeq Acc Id: ENSP00000350278   ⟸   ENST00000357650
RefSeq Acc Id: XP_054190581   ⟸   XM_054334606
- Peptide Label: isoform X1
- UniProtKB: Q8NEW0 (UniProtKB/Swiss-Prot),   D3DT61 (UniProtKB/Swiss-Prot),   B2R949 (UniProtKB/Swiss-Prot),   Q8TCH2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054190582   ⟸   XM_054334607
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NEW0-F1-model_v2 AlphaFold Q8NEW0 1-376 view protein structure

Promoters
RGD ID:6856376
Promoter ID:EPDNEW_H1353
Type:initiation region
Name:SLC30A7_1
Description:solute carrier family 30 member 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381100,896,100 - 100,896,160EPDNEW
RGD ID:6785539
Promoter ID:HG_KWN:3831
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000370111,   ENST00000370114,   NM_001144884,   NM_001439,   NM_133496,   OTTHUMT00000032707,   OTTHUMT00000032708,   OTTHUMT00000032709,   OTTHUMT00000032710,   UC001DTM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361101,132,661 - 101,134,957 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19306 AgrOrtholog
COSMIC SLC30A7 COSMIC
Ensembl Genes ENSG00000162695 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000357650 ENTREZGENE
  ENST00000357650.9 UniProtKB/Swiss-Prot
  ENST00000370111.4 UniProtKB/TrEMBL
  ENST00000370112 ENTREZGENE
  ENST00000370112.8 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1510.10 UniProtKB/Swiss-Prot
GTEx ENSG00000162695 GTEx
HGNC ID HGNC:19306 ENTREZGENE
Human Proteome Map SLC30A7 Human Proteome Map
InterPro Cation_efflux UniProtKB/Swiss-Prot
  Cation_efflux_TMD_sf UniProtKB/Swiss-Prot
  Msc2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:148867 UniProtKB/Swiss-Prot
NCBI Gene 148867 ENTREZGENE
OMIM 611149 OMIM
PANTHER PTHR45755 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC TRANSPORTER 7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cation_efflux UniProtKB/Swiss-Prot
PharmGKB PA134891595 PharmGKB
Superfamily-SCOP SSF161111 UniProtKB/Swiss-Prot
UniProt B2R949 ENTREZGENE
  D3DT61 ENTREZGENE
  H0Y362_HUMAN UniProtKB/TrEMBL
  Q8NEW0 ENTREZGENE
  Q8TCH2 ENTREZGENE
  ZNT7_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2R949 UniProtKB/Swiss-Prot
  D3DT61 UniProtKB/Swiss-Prot
  Q8TCH2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC30A7  solute carrier family 30 member 7  SLC30A7  solute carrier family 30 (zinc transporter), member 7  Symbol and/or name change 5135510 APPROVED