UniProtKB - Q9BRI3 (ZNT2_HUMAN)
Protein
Zinc transporter 2
Gene
SLC30A2
Organism
Homo sapiens (Human)
Status
Functioni
GO - Molecular functioni
- identical protein binding Source: IntAct
- zinc ion transmembrane transporter activity Source: GO_Central
GO - Biological processi
- positive regulation of sequestering of zinc ion Source: BHF-UCL
- regulation of sequestering of zinc ion Source: GO_Central
- response to zinc ion Source: GO_Central
- zinc ion transmembrane transport Source: GO_Central
Keywordsi
Biological process | Ion transport, Transport, Zinc transport |
Ligand | Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q9BRI3 |
Reactomei | R-HSA-435368, Zinc efflux and compartmentalization by the SLC30 family |
Protein family/group databases
TCDBi | 2.A.4.3.6, the cation diffusion facilitator (cdf) family |
Names & Taxonomyi
Protein namesi | Recommended name: Zinc transporter 2Short name: ZnT-2 Alternative name(s): Solute carrier family 30 member 2 |
Gene namesi | Name:SLC30A2 Synonyms:ZNT2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000158014.14 |
HGNCi | HGNC:11013, SLC30A2 |
MIMi | 609617, gene |
neXtProti | NX_Q9BRI3 |
Subcellular locationi
Other locations
- Vacuole membrane 1 Publication; Multi-pass membrane protein 1 Publication
Lysosome
Endosome
- late endosome Source: BHF-UCL
Lysosome
- lysosomal membrane Source: UniProtKB
Plasma Membrane
- plasma membrane Source: GO_Central
Other locations
- cytoplasm Source: BHF-UCL
- integral component of membrane Source: UniProtKB-KW
- intracellular membrane-bounded organelle Source: HPA
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 91 | CytoplasmicSequence analysisAdd BLAST | 91 | |
Transmembranei | 92 – 112 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 113 – 126 | VacuolarSequence analysisAdd BLAST | 14 | |
Transmembranei | 127 – 147 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 148 – 171 | CytoplasmicSequence analysisAdd BLAST | 24 | |
Transmembranei | 172 – 192 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 193 – 200 | VacuolarSequence analysis | 8 | |
Transmembranei | 201 – 221 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 222 – 255 | CytoplasmicSequence analysisAdd BLAST | 34 | |
Transmembranei | 256 – 276 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 277 – 323 | VacuolarSequence analysisAdd BLAST | 47 |
Keywords - Cellular componenti
Lysosome, Membrane, VacuolePathology & Biotechi
Involvement in diseasei
Zinc deficiency, transient neonatal (TNZD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder occurring in breast-fed infants as a consequence of low milk zinc concentration in their nursing mothers, which cannot be corrected by maternal zinc supplementation. A large amount of zinc, an essential trace mineral, is required for normal growth particularly in infants, and breast milk normally contains adequate zinc to meet the requirement for infants up to 4 to 6 months of age. Zinc deficiency can lead to dermatitis, alopecia, decreased growth, and impaired immune function. The disorder shows autosomal dominant inheritance with incomplete penetrance.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069309 | 54 | H → R in TNZD; there are lower free protein levels compared to wild-type due to abnormal intracellular perinuclear aggregation of the mutant protein which is most likely due to protein misfolding. 1 PublicationCorresponds to variant dbSNP:rs587776926EnsemblClinVar. | 1 | |
Natural variantiVAR_069310 | 87 | G → R in TNZD; inactivating mutation inflicting a dominant negative effect; the mutant protein shows mislocalization being largely retained in the Golgi apparatus or endoplasmic reticulum or in the perinuclear region. 1 PublicationCorresponds to variant dbSNP:rs185398527EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 7780 |
MalaCardsi | SLC30A2 |
MIMi | 608118, phenotype |
OpenTargetsi | ENSG00000158014 |
PharmGKBi | PA35883 |
Miscellaneous databases
Pharosi | Q9BRI3, Tbio |
Chemistry databases
DrugBanki | DB14533, Zinc chloride DB14548, Zinc sulfate, unspecified form |
Polymorphism and mutation databases
BioMutai | SLC30A2 |
DMDMi | 60390858 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000206094 | 1 – 323 | Zinc transporter 2Add BLAST | 323 |
Proteomic databases
MassIVEi | Q9BRI3 |
PeptideAtlasi | Q9BRI3 |
PRIDEi | Q9BRI3 |
ProteomicsDBi | 78767 [Q9BRI3-1] 78768 [Q9BRI3-2] |
PTM databases
iPTMneti | Q9BRI3 |
PhosphoSitePlusi | Q9BRI3 |
Expressioni
Gene expression databases
Bgeei | ENSG00000158014, Expressed in body of pancreas and 103 other tissues |
Genevisiblei | Q9BRI3, HS |
Organism-specific databases
HPAi | ENSG00000158014, Tissue enhanced (pancreas, placenta) |
Interactioni
Subunit structurei
Homodimer.
1 PublicationBinary interactionsi
Q9BRI3
GO - Molecular functioni
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 113561, 69 interactors |
IntActi | Q9BRI3, 74 interactors |
MINTi | Q9BRI3 |
Miscellaneous databases
RNActi | Q9BRI3, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily. [View classification]Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
GeneTreei | ENSGT00940000156072 |
HOGENOMi | CLU_013430_0_1_1 |
InParanoidi | Q9BRI3 |
OMAi | TIQMERQ |
OrthoDBi | 973492at2759 |
PhylomeDBi | Q9BRI3 |
TreeFami | TF313382 |
Family and domain databases
Gene3Di | 1.20.1510.10, 1 hit |
InterProi | View protein in InterPro IPR002524, Cation_efflux IPR036837, Cation_efflux_CTD_sf IPR027469, Cation_efflux_TMD_sf |
Pfami | View protein in Pfam PF01545, Cation_efflux, 1 hit |
SUPFAMi | SSF160240, SSF160240, 1 hit SSF161111, SSF161111, 1 hit |
TIGRFAMsi | TIGR01297, CDF, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q9BRI3-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MEAKEKQHLL DARPAIRSYT GSLWQEGAGW IPLPRPGLDL QAIELAAQSN
60 70 80 90 100
HHCHAQKGPD SHCDPKKGKA QRQLYVASAI CLLFMIGEVV EILGALVSVL
110 120 130 140 150
SIWVVTGVLV YLAVERLISG DYEIDGGTML ITSGCAVAVN IIMGLTLHQS
160 170 180 190 200
GHGHSHGTTN QQEENPSVRA AFIHVIGDFM QSMGVLVAAY ILYFKPEYKY
210 220 230 240 250
VDPICTFVFS ILVLGTTLTI LRDVILVLME GTPKGVDFTA VRDLLLSVEG
260 270 280 290 300
VEALHSLHIW ALTVAQPVLS VHIAIAQNTD AQAVLKTASS RLQGKFHFHT
310 320
VTIQIEDYSE DMKDCQACQG PSD
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069309 | 54 | H → R in TNZD; there are lower free protein levels compared to wild-type due to abnormal intracellular perinuclear aggregation of the mutant protein which is most likely due to protein misfolding. 1 PublicationCorresponds to variant dbSNP:rs587776926EnsemblClinVar. | 1 | |
Natural variantiVAR_069310 | 87 | G → R in TNZD; inactivating mutation inflicting a dominant negative effect; the mutant protein shows mislocalization being largely retained in the Golgi apparatus or endoplasmic reticulum or in the perinuclear region. 1 PublicationCorresponds to variant dbSNP:rs185398527EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_039754 | 90 | V → VGGYLAHSLAVMTDAAHLLT DFASMLISLFSLWMSSRPAT KTMNFGWQRA in isoform 2. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF370409 mRNA Translation: AAQ15245.1 AL391650 Genomic DNA No translation available. BC006251 mRNA Translation: AAH06251.1 |
CCDSi | CCDS272.1 [Q9BRI3-1] CCDS30644.1 [Q9BRI3-2] |
RefSeqi | NP_001004434.1, NM_001004434.2 [Q9BRI3-2] NP_115902.1, NM_032513.4 [Q9BRI3-1] |
Genome annotation databases
Ensembli | ENST00000374276; ENSP00000363394; ENSG00000158014 [Q9BRI3-2] ENST00000374278; ENSP00000363396; ENSG00000158014 [Q9BRI3-1] |
GeneIDi | 7780 |
KEGGi | hsa:7780 |
UCSCi | uc001blg.2, human [Q9BRI3-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF370409 mRNA Translation: AAQ15245.1 AL391650 Genomic DNA No translation available. BC006251 mRNA Translation: AAH06251.1 |
CCDSi | CCDS272.1 [Q9BRI3-1] CCDS30644.1 [Q9BRI3-2] |
RefSeqi | NP_001004434.1, NM_001004434.2 [Q9BRI3-2] NP_115902.1, NM_032513.4 [Q9BRI3-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 113561, 69 interactors |
IntActi | Q9BRI3, 74 interactors |
MINTi | Q9BRI3 |
Chemistry databases
DrugBanki | DB14533, Zinc chloride DB14548, Zinc sulfate, unspecified form |
Protein family/group databases
TCDBi | 2.A.4.3.6, the cation diffusion facilitator (cdf) family |
PTM databases
iPTMneti | Q9BRI3 |
PhosphoSitePlusi | Q9BRI3 |
Polymorphism and mutation databases
BioMutai | SLC30A2 |
DMDMi | 60390858 |
Proteomic databases
MassIVEi | Q9BRI3 |
PeptideAtlasi | Q9BRI3 |
PRIDEi | Q9BRI3 |
ProteomicsDBi | 78767 [Q9BRI3-1] 78768 [Q9BRI3-2] |
Protocols and materials databases
Antibodypediai | 15992, 44 antibodies |
DNASUi | 7780 |
Genome annotation databases
Ensembli | ENST00000374276; ENSP00000363394; ENSG00000158014 [Q9BRI3-2] ENST00000374278; ENSP00000363396; ENSG00000158014 [Q9BRI3-1] |
GeneIDi | 7780 |
KEGGi | hsa:7780 |
UCSCi | uc001blg.2, human [Q9BRI3-1] |
Organism-specific databases
CTDi | 7780 |
DisGeNETi | 7780 |
EuPathDBi | HostDB:ENSG00000158014.14 |
GeneCardsi | SLC30A2 |
HGNCi | HGNC:11013, SLC30A2 |
HPAi | ENSG00000158014, Tissue enhanced (pancreas, placenta) |
MalaCardsi | SLC30A2 |
MIMi | 608118, phenotype 609617, gene |
neXtProti | NX_Q9BRI3 |
OpenTargetsi | ENSG00000158014 |
PharmGKBi | PA35883 |
GenAtlasi | Search... |
Phylogenomic databases
GeneTreei | ENSGT00940000156072 |
HOGENOMi | CLU_013430_0_1_1 |
InParanoidi | Q9BRI3 |
OMAi | TIQMERQ |
OrthoDBi | 973492at2759 |
PhylomeDBi | Q9BRI3 |
TreeFami | TF313382 |
Enzyme and pathway databases
PathwayCommonsi | Q9BRI3 |
Reactomei | R-HSA-435368, Zinc efflux and compartmentalization by the SLC30 family |
Miscellaneous databases
BioGRID-ORCSi | 7780, 2 hits in 840 CRISPR screens |
ChiTaRSi | SLC30A2, human |
GenomeRNAii | 7780 |
Pharosi | Q9BRI3, Tbio |
PROi | PR:Q9BRI3 |
RNActi | Q9BRI3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000158014, Expressed in body of pancreas and 103 other tissues |
Genevisiblei | Q9BRI3, HS |
Family and domain databases
Gene3Di | 1.20.1510.10, 1 hit |
InterProi | View protein in InterPro IPR002524, Cation_efflux IPR036837, Cation_efflux_CTD_sf IPR027469, Cation_efflux_TMD_sf |
Pfami | View protein in Pfam PF01545, Cation_efflux, 1 hit |
SUPFAMi | SSF160240, SSF160240, 1 hit SSF161111, SSF161111, 1 hit |
TIGRFAMsi | TIGR01297, CDF, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ZNT2_HUMAN | |
Accessioni | Q9BRI3Primary (citable) accession number: Q9BRI3 Secondary accession number(s): Q71RC8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 1, 2005 |
Last sequence update: | June 1, 2001 | |
Last modified: | December 2, 2020 | |
This is version 159 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations