SLC30A8 (solute carrier family 30 member 8) - Rat Genome Database

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Gene: SLC30A8 (solute carrier family 30 member 8) Homo sapiens
Analyze
Symbol: SLC30A8
Name: solute carrier family 30 member 8
RGD ID: 1317968
HGNC Page HGNC
Description: Exhibits zinc ion transmembrane transporter activity. Involved in several processes, including insulin secretion; response to glucose; and sequestering of zinc ion. Localizes to plasma membrane and secretory granule. Implicated in type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: solute carrier family 30 (zinc transporter), member 8; zinc transporter 8; zinc transporter ZnT-8; ZnT-8; ZNT8
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8116,950,273 - 117,176,714 (+)EnsemblGRCh38hg38GRCh38
GRCh388116,950,217 - 117,176,714 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378117,962,456 - 118,188,953 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368118,216,518 - 118,258,134 (+)NCBINCBI36hg18NCBI36
Build 348118,216,747 - 118,254,101NCBI
Celera8114,151,202 - 114,377,691 (+)NCBI
Cytogenetic Map8q24.11NCBI
HuRef8113,288,921 - 113,515,635 (+)NCBIHuRef
CHM1_18118,002,722 - 118,228,963 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:11076863   PMID:11230166   PMID:12477932   PMID:15154973   PMID:15331542   PMID:15489334   PMID:15489336   PMID:16158222   PMID:16381901   PMID:16984975   PMID:17293876   PMID:17460697  
PMID:17463246   PMID:17463248   PMID:17463249   PMID:17657472   PMID:17786204   PMID:17804762   PMID:17928989   PMID:17942684   PMID:17971426   PMID:17971500   PMID:18162508   PMID:18162509  
PMID:18210030   PMID:18212765   PMID:18252897   PMID:18264689   PMID:18324385   PMID:18400535   PMID:18426861   PMID:18437351   PMID:18443202   PMID:18461161   PMID:18469204   PMID:18477659  
PMID:18498634   PMID:18516622   PMID:18544707   PMID:18548167   PMID:18591387   PMID:18591388   PMID:18598350   PMID:18618095   PMID:18628523   PMID:18633108   PMID:18694974   PMID:18719881  
PMID:18850084   PMID:18984664   PMID:18991055   PMID:19002430   PMID:19008344   PMID:19020323   PMID:19020324   PMID:19033397   PMID:19056611   PMID:19064571   PMID:19082521   PMID:19096518  
PMID:19108828   PMID:19120306   PMID:19120307   PMID:19172244   PMID:19225753   PMID:19228808   PMID:19247372   PMID:19258404   PMID:19258437   PMID:19279076   PMID:19323954   PMID:19324937  
PMID:19336475   PMID:19380854   PMID:19401414   PMID:19479076   PMID:19502414   PMID:19542200   PMID:19590848   PMID:19592620   PMID:19602701   PMID:19622614   PMID:19655390   PMID:19720844  
PMID:19734900   PMID:19741166   PMID:19741467   PMID:19794065   PMID:19808892   PMID:19808923   PMID:19862325   PMID:19892838   PMID:19933996   PMID:20035758   PMID:20075150   PMID:20081858  
PMID:20091020   PMID:20138556   PMID:20167458   PMID:20185807   PMID:20203524   PMID:20215779   PMID:20384434   PMID:20424228   PMID:20490451   PMID:20509872   PMID:20550665   PMID:20571754  
PMID:20580033   PMID:20581827   PMID:20610599   PMID:20616309   PMID:20703447   PMID:20712903   PMID:20802253   PMID:20809084   PMID:20816152   PMID:20836749   PMID:20873210   PMID:20879858  
PMID:20889853   PMID:20929593   PMID:21036910   PMID:21073664   PMID:21099294   PMID:21103350   PMID:21131091   PMID:21244337   PMID:21510814   PMID:21604969   PMID:21779873   PMID:21792090  
PMID:21798992   PMID:21814517   PMID:21873549   PMID:21873635   PMID:22046415   PMID:22424623   PMID:22443257   PMID:22446173   PMID:22447136   PMID:22487833   PMID:22526605   PMID:22526607  
PMID:22529353   PMID:22581228   PMID:22582094   PMID:22586580   PMID:22653633   PMID:22686132   PMID:22693455   PMID:22778022   PMID:22787139   PMID:22923468   PMID:22957668   PMID:23194113  
PMID:23251661   PMID:23390544   PMID:23396399   PMID:23696819   PMID:23861236   PMID:23945395   PMID:24002674   PMID:24051378   PMID:24101675   PMID:24306209   PMID:24423473   PMID:24449369  
PMID:24471563   PMID:24499956   PMID:24509480   PMID:24584071   PMID:24623722   PMID:24647736   PMID:24830306   PMID:24955142   PMID:25178386   PMID:25187374   PMID:25287711   PMID:25348609  
PMID:25416956   PMID:25501231   PMID:25910212   PMID:25916116   PMID:26214053   PMID:26593983   PMID:26824044   PMID:26832344   PMID:26957571   PMID:27003436   PMID:27270580   PMID:27310578  
PMID:27363941   PMID:27600066   PMID:27875315   PMID:27896278   PMID:27899481   PMID:28072873   PMID:28190110   PMID:28303020   PMID:28352089   PMID:28363002   PMID:28490771   PMID:28965566  
PMID:29288641   PMID:29333637   PMID:29679103   PMID:30142362   PMID:30151912   PMID:30197307   PMID:30236453   PMID:30485937   PMID:30555071   PMID:30710592   PMID:30936149   PMID:31444530  
PMID:31591269   PMID:31676859   PMID:32023808   PMID:32296183   PMID:32634200   PMID:32681069   PMID:33161057   PMID:33799326  


Genomics

Comparative Map Data
SLC30A8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8116,950,273 - 117,176,714 (+)EnsemblGRCh38hg38GRCh38
GRCh388116,950,217 - 117,176,714 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378117,962,456 - 118,188,953 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368118,216,518 - 118,258,134 (+)NCBINCBI36hg18NCBI36
Build 348118,216,747 - 118,254,101NCBI
Celera8114,151,202 - 114,377,691 (+)NCBI
Cytogenetic Map8q24.11NCBI
HuRef8113,288,921 - 113,515,635 (+)NCBIHuRef
CHM1_18118,002,722 - 118,228,963 (+)NCBICHM1_1
Slc30a8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391552,158,949 - 52,199,194 (+)NCBIGRCm39mm39
GRCm39 Ensembl1552,158,949 - 52,199,194 (+)Ensembl
GRCm381552,295,553 - 52,335,798 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1552,295,553 - 52,335,798 (+)EnsemblGRCm38mm10GRCm38
MGSCv371552,127,108 - 52,167,288 (+)NCBIGRCm37mm9NCBIm37
MGSCv361552,125,636 - 52,165,816 (+)NCBImm8
Celera1553,863,656 - 53,904,335 (+)NCBICelera
Cytogenetic Map15CNCBI
Slc30a8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2783,591,993 - 83,627,786 (+)NCBI
Rnor_6.0 Ensembl791,832,988 - 91,867,300 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0791,832,988 - 91,869,329 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0792,476,024 - 92,512,365 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4788,583,770 - 88,617,145 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1788,604,575 - 88,639,923 (+)NCBI
Celera780,455,350 - 80,488,134 (+)NCBICelera
Cytogenetic Map7q31NCBI
Slc30a8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541723,207,146 - 23,236,874 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541723,207,146 - 23,239,170 (+)NCBIChiLan1.0ChiLan1.0
SLC30A8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18116,167,700 - 116,394,095 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8116,223,595 - 116,394,095 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08113,624,785 - 113,851,633 (+)NCBIMhudiblu_PPA_v0panPan3
SLC30A8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11316,602,255 - 16,637,299 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1316,601,912 - 16,635,880 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1316,603,610 - 16,638,559 (+)NCBI
ROS_Cfam_1.01316,898,497 - 16,933,443 (+)NCBI
UMICH_Zoey_3.11316,635,055 - 16,670,008 (+)NCBI
UNSW_CanFamBas_1.01316,734,977 - 16,770,163 (+)NCBI
UU_Cfam_GSD_1.01316,978,714 - 17,013,658 (+)NCBI
Slc30a8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530321,687,819 - 21,725,947 (-)NCBI
SpeTri2.0NW_00493647029,114,713 - 29,151,993 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC30A8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl421,517,486 - 21,555,757 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1421,517,009 - 21,557,747 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2422,786,105 - 22,824,455 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC30A8
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18111,588,517 - 111,819,908 (+)NCBI
ChlSab1.1 Ensembl8111,769,181 - 111,815,885 (+)Ensembl
Slc30a8
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476315,393,221 - 15,469,819 (+)NCBI

Position Markers
D8S1673  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378117,979,301 - 117,979,405UniSTSGRCh37
Build 368118,048,482 - 118,048,586RGDNCBI36
Celera8114,167,991 - 114,168,095RGD
Cytogenetic Map8q24.11UniSTS
HuRef8113,305,688 - 113,305,792UniSTS
Whitehead-RH Map8631.4UniSTS
Whitehead-YAC Contig Map8 UniSTS
D8S1201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378117,999,795 - 117,999,906UniSTSGRCh37
Build 368118,068,976 - 118,069,087RGDNCBI36
Celera8114,188,495 - 114,188,606RGD
Cytogenetic Map8q24.11UniSTS
HuRef8113,326,190 - 113,326,301UniSTS
SHGC-147089  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378118,099,209 - 118,099,539UniSTSGRCh37
Build 368118,168,390 - 118,168,720RGDNCBI36
Celera8114,287,902 - 114,288,232RGD
Cytogenetic Map8q24.11UniSTS
HuRef8113,425,539 - 113,425,869UniSTS
SHGC-154540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378118,033,794 - 118,034,128UniSTSGRCh37
Build 368118,102,975 - 118,103,309RGDNCBI36
Celera8114,222,487 - 114,222,821RGD
Cytogenetic Map8q24.11UniSTS
HuRef8113,360,121 - 113,360,455UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3420
Count of miRNA genes:1138
Interacting mature miRNAs:1416
Transcripts:ENST00000427715, ENST00000456015, ENST00000518396, ENST00000518521, ENST00000519688, ENST00000520469, ENST00000521035, ENST00000521243, ENST00000524274
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1 2 2 5 2 1 1 1 6 6 6 1
Low 405 28 194 28 53 13 225 165 144 93 475 155 15 3 69 1
Below cutoff 1827 1403 998 183 815 89 2032 1112 2730 157 626 1075 100 447 1356 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC027419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC084114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX556902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY117411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM565086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ631692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU949895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF560713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI380463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000427715   ⟹   ENSP00000407505
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8116,950,951 - 117,176,714 (+)Ensembl
RefSeq Acc Id: ENST00000456015   ⟹   ENSP00000415011
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8117,135,328 - 117,174,091 (+)Ensembl
RefSeq Acc Id: ENST00000518396   ⟹   ENSP00000485167
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8117,135,027 - 117,147,138 (+)Ensembl
RefSeq Acc Id: ENST00000518521   ⟹   ENSP00000485566
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8117,134,808 - 117,152,975 (+)Ensembl
RefSeq Acc Id: ENST00000519688   ⟹   ENSP00000431069
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8117,135,259 - 117,176,714 (+)Ensembl
RefSeq Acc Id: ENST00000520469
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8117,135,074 - 117,147,609 (+)Ensembl
RefSeq Acc Id: ENST00000521035
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8116,950,949 - 117,147,011 (+)Ensembl
RefSeq Acc Id: ENST00000521243   ⟹   ENSP00000428545
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8116,950,273 - 117,172,791 (+)Ensembl
RefSeq Acc Id: ENST00000524274   ⟹   ENSP00000427760
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8116,950,490 - 117,153,082 (+)Ensembl
RefSeq Acc Id: NM_001172811   ⟹   NP_001166282
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388116,950,217 - 117,176,714 (+)NCBI
GRCh378117,962,512 - 118,188,953 (+)ENTREZGENE
HuRef8113,288,921 - 113,515,635 (+)ENTREZGENE
CHM1_18118,002,722 - 118,228,963 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001172813   ⟹   NP_001166284
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388116,950,975 - 117,176,714 (+)NCBI
GRCh378117,962,512 - 118,188,953 (+)ENTREZGENE
HuRef8113,288,921 - 113,515,635 (+)ENTREZGENE
CHM1_18118,003,400 - 118,228,963 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001172814   ⟹   NP_001166285
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388117,134,995 - 117,176,714 (+)NCBI
GRCh378117,962,512 - 118,188,953 (+)ENTREZGENE
HuRef8113,288,921 - 113,515,635 (+)ENTREZGENE
CHM1_18118,187,349 - 118,228,963 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001172815   ⟹   NP_001166286
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388116,950,975 - 117,176,714 (+)NCBI
GRCh378117,962,512 - 118,188,953 (+)ENTREZGENE
HuRef8113,288,921 - 113,515,635 (+)ENTREZGENE
CHM1_18118,003,400 - 118,228,963 (+)NCBI
Sequence:
RefSeq Acc Id: NM_173851   ⟹   NP_776250
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388117,134,995 - 117,176,714 (+)NCBI
GRCh378117,962,512 - 118,188,953 (+)ENTREZGENE
Build 368118,216,518 - 118,258,134 (+)NCBI Archive
HuRef8113,288,921 - 113,515,635 (+)ENTREZGENE
CHM1_18118,187,349 - 118,228,963 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447083   ⟹   XP_024302851
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388116,950,433 - 117,176,713 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001166282   ⟸   NM_001172811
- Peptide Label: isoform b
- UniProtKB: Q8IWU4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001166284   ⟸   NM_001172813
- Peptide Label: isoform b
- UniProtKB: Q8IWU4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001166286   ⟸   NM_001172815
- Peptide Label: isoform b
- UniProtKB: Q8IWU4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001166285   ⟸   NM_001172814
- Peptide Label: isoform b
- UniProtKB: Q8IWU4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_776250   ⟸   NM_173851
- Peptide Label: isoform a
- UniProtKB: Q8IWU4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024302851   ⟸   XM_024447083
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000485566   ⟸   ENST00000518521
RefSeq Acc Id: ENSP00000485167   ⟸   ENST00000518396
RefSeq Acc Id: ENSP00000431069   ⟸   ENST00000519688
RefSeq Acc Id: ENSP00000407505   ⟸   ENST00000427715
RefSeq Acc Id: ENSP00000415011   ⟸   ENST00000456015
RefSeq Acc Id: ENSP00000428545   ⟸   ENST00000521243
RefSeq Acc Id: ENSP00000427760   ⟸   ENST00000524274

Promoters
RGD ID:7214035
Promoter ID:EPDNEW_H12763
Type:initiation region
Name:SLC30A8_2
Description:solute carrier family 30 member 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12764  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388116,950,091 - 116,950,151EPDNEW
RGD ID:7214037
Promoter ID:EPDNEW_H12764
Type:single initiation site
Name:SLC30A8_1
Description:solute carrier family 30 member 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12763  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388117,049,877 - 117,049,937EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_173851.3(SLC30A8):c.973C>T (p.Arg325Trp) single nucleotide variant Diabetes mellitus type 2, susceptibility to [RCV000001055] Chr8:117172544 [GRCh38]
Chr8:118184783 [GRCh37]
Chr8:8q24.11
risk factor
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21
pathogenic
NM_173851.2(SLC30A8):c.130G>A (p.Glu44Lys) single nucleotide variant Malignant melanoma [RCV000068115] Chr8:117147012 [GRCh38]
Chr8:118159251 [GRCh37]
Chr8:118228432 [NCBI36]
Chr8:8q24.11
not provided
NM_001172813.1(SLC30A8):c.195C>T (p.Phe65=) single nucleotide variant Malignant melanoma [RCV000068116] Chr8:117153014 [GRCh38]
Chr8:118165253 [GRCh37]
Chr8:118234434 [NCBI36]
Chr8:8q24.11
not provided
NM_001172813.1(SLC30A8):c.666C>T (p.Ser222=) single nucleotide variant Malignant melanoma [RCV000061736] Chr8:117163514 [GRCh38]
Chr8:118175753 [GRCh37]
Chr8:118244934 [NCBI36]
Chr8:8q24.11
not provided
NM_001172813.1(SLC30A8):c.-397+19701G>A single nucleotide variant Lung cancer [RCV000106962] Chr8:116970820 [GRCh38]
Chr8:117983059 [GRCh37]
Chr8:8q24.11
uncertain significance
NM_001172813.1(SLC30A8):c.-274+61280A>G single nucleotide variant Lung cancer [RCV000106963] Chr8:117068393 [GRCh38]
Chr8:118080632 [GRCh37]
Chr8:8q24.11
uncertain significance
NM_001172813.1(SLC30A8):c.-273-2229G>T single nucleotide variant Lung cancer [RCV000106964] Chr8:117133003 [GRCh38]
Chr8:118145242 [GRCh37]
Chr8:8q24.11
uncertain significance
NM_001172813.1(SLC30A8):c.682+958C>G single nucleotide variant Lung cancer [RCV000106965] Chr8:117164488 [GRCh38]
Chr8:118176727 [GRCh37]
Chr8:8q24.11
uncertain significance
NM_173851.3(SLC30A8):c.412C>T (p.Arg138Ter) single nucleotide variant Type 2 diabetes mellitus [RCV000129930] Chr8:117153084 [GRCh38]
Chr8:118165323 [GRCh37]
Chr8:8q24.11
protective
NM_173851.3(SLC30A8):c.101_107del (p.Lys34fs) deletion Type 2 diabetes mellitus [RCV000129931] Chr8:117146982..117146988 [GRCh38]
Chr8:118159221..118159227 [GRCh37]
Chr8:8q24.11
protective
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q23.3-24.12(chr8:113418060-120975305)x1 copy number loss See cases [RCV000135291] Chr8:113418060..120975305 [GRCh38]
Chr8:114430289..121987545 [GRCh37]
Chr8:114499465..122056726 [NCBI36]
Chr8:8q23.3-24.12
pathogenic
GRCh38/hg38 8q23.3-24.12(chr8:112528342-120083041)x1 copy number loss See cases [RCV000135819] Chr8:112528342..120083041 [GRCh38]
Chr8:113540571..121095280 [GRCh37]
Chr8:113609747..121164461 [NCBI36]
Chr8:8q23.3-24.12
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q23.3-24.13(chr8:114560780-122594102)x1 copy number loss See cases [RCV000139027] Chr8:114560780..122594102 [GRCh38]
Chr8:115573009..123606341 [GRCh37]
Chr8:115642185..123675522 [NCBI36]
Chr8:8q23.3-24.13
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q23.3-24.13(chr8:113933305-122621741)x1 copy number loss See cases [RCV000140680] Chr8:113933305..122621741 [GRCh38]
Chr8:114945534..123633980 [GRCh37]
Chr8:115014710..123703161 [NCBI36]
Chr8:8q23.3-24.13
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.3-24.11(chr8:116497730-117379167)x1 copy number loss See cases [RCV000142553] Chr8:116497730..117379167 [GRCh38]
Chr8:117509968..118391406 [GRCh37]
Chr8:117579149..118460587 [NCBI36]
Chr8:8q23.3-24.11
uncertain significance
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q24.11(chr8:117714768-119072307)x1 copy number loss See cases [RCV000240065] Chr8:117714768..119072307 [GRCh37]
Chr8:8q24.11
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q23.1-24.12(chr8:107032887-120742018)x1 copy number loss See cases [RCV000448650] Chr8:107032887..120742018 [GRCh37]
Chr8:8q23.1-24.12
pathogenic
GRCh37/hg19 8q23.3-24.11(chr8:116902507-118942698)x1 copy number loss See cases [RCV000448534] Chr8:116902507..118942698 [GRCh37]
Chr8:8q23.3-24.11
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8q23.2-24.12(chr8:111137305-119897611)x1 copy number loss See cases [RCV000512409] Chr8:111137305..119897611 [GRCh37]
Chr8:8q23.2-24.12
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q23.1-24.13(chr8:110250943-123515785)x1 copy number loss not provided [RCV000683038] Chr8:110250943..123515785 [GRCh37]
Chr8:8q23.1-24.13
pathogenic
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.11(chr8:118005459-118008066)x1 copy number loss not provided [RCV000747789] Chr8:118005459..118008066 [GRCh37]
Chr8:8q24.11
benign
NM_001172813.2(SLC30A8):c.120C>T (p.Val40=) single nucleotide variant not provided [RCV000900304] Chr8:117147149 [GRCh38]
Chr8:118159388 [GRCh37]
Chr8:8q24.11
likely benign
NM_001172813.2(SLC30A8):c.525T>C (p.Asp175=) single nucleotide variant not provided [RCV000928016] Chr8:117161837 [GRCh38]
Chr8:118174076 [GRCh37]
Chr8:8q24.11
likely benign
NM_001172813.2(SLC30A8):c.781A>G (p.Met261Val) single nucleotide variant not provided [RCV000880415] Chr8:117171132 [GRCh38]
Chr8:118183371 [GRCh37]
Chr8:8q24.11
likely benign
GRCh37/hg19 8q23.2-24.13(chr8:111514791-123192373)x1 copy number loss not provided [RCV001006131] Chr8:111514791..123192373 [GRCh37]
Chr8:8q23.2-24.13
pathogenic
GRCh37/hg19 8q24.11(chr8:117972807-118034031)x1 copy number loss not provided [RCV001006133] Chr8:117972807..118034031 [GRCh37]
Chr8:8q24.11
uncertain significance
NM_001172813.2(SLC30A8):c.-76T>C single nucleotide variant not provided [RCV000974240] Chr8:117146954 [GRCh38]
Chr8:118159193 [GRCh37]
Chr8:8q24.11
benign
GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3 copy number gain not provided [RCV001259025] Chr8:108421573..123429638 [GRCh37]
Chr8:8q23.1-24.13
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20303 AgrOrtholog
COSMIC SLC30A8 COSMIC
Ensembl Genes ENSG00000164756 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000407505 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000415011 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427760 UniProtKB/TrEMBL
  ENSP00000428545 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431069 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000485167 UniProtKB/TrEMBL
  ENSP00000485566 UniProtKB/TrEMBL
Ensembl Transcript ENST00000427715 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000456015 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000518396 UniProtKB/TrEMBL
  ENST00000518521 UniProtKB/TrEMBL
  ENST00000519688 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000521243 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000524274 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1510.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000164756 GTEx
HGNC ID HGNC:20303 ENTREZGENE
Human Proteome Map SLC30A8 Human Proteome Map
InterPro Cation_efflux UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cation_efflux_CTD_sf UniProtKB/Swiss-Prot
  Cation_efflux_TMD_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnT-8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:169026 UniProtKB/Swiss-Prot
NCBI Gene 169026 ENTREZGENE
OMIM 125853 OMIM
  611145 OMIM
PANTHER PTHR11562:SF37 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cation_efflux UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134915546 PharmGKB
Superfamily-SCOP SSF160240 UniProtKB/Swiss-Prot
  SSF161111 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs CDF UniProtKB/Swiss-Prot
UniProt A0A096LNR0_HUMAN UniProtKB/TrEMBL
  A0A096LPF3_HUMAN UniProtKB/TrEMBL
  E5RG87_HUMAN UniProtKB/TrEMBL
  Q8IWU4 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A0AVP9 UniProtKB/Swiss-Prot
  A5YM39 UniProtKB/Swiss-Prot
  B4DPE0 UniProtKB/Swiss-Prot
  Q8TCL3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-08 SLC30A8  solute carrier family 30 member 8    solute carrier family 30 (zinc transporter), member 8  Symbol and/or name change 5135510 APPROVED