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Protein

Zinc transporter 2

Gene

SLC30A2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  • zinc ion transmembrane transporter activity Source: GO_Central

GO - Biological processi

Keywordsi

Biological processIon transport, Transport, Zinc transport
LigandZinc

Enzyme and pathway databases

ReactomeiR-HSA-435368 Zinc efflux and compartmentalization by the SLC30 family

Protein family/group databases

TCDBi2.A.4.3.6 the cation diffusion facilitator (cdf) family

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc transporter 2
Short name:
ZnT-2
Alternative name(s):
Solute carrier family 30 member 2
Gene namesi
Name:SLC30A2
Synonyms:ZNT2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000158014.14
HGNCiHGNC:11013 SLC30A2
MIMi609617 gene
neXtProtiNX_Q9BRI3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 91CytoplasmicSequence analysisAdd BLAST91
Transmembranei92 – 112HelicalSequence analysisAdd BLAST21
Topological domaini113 – 126VacuolarSequence analysisAdd BLAST14
Transmembranei127 – 147HelicalSequence analysisAdd BLAST21
Topological domaini148 – 171CytoplasmicSequence analysisAdd BLAST24
Transmembranei172 – 192HelicalSequence analysisAdd BLAST21
Topological domaini193 – 200VacuolarSequence analysis8
Transmembranei201 – 221HelicalSequence analysisAdd BLAST21
Topological domaini222 – 255CytoplasmicSequence analysisAdd BLAST34
Transmembranei256 – 276HelicalSequence analysisAdd BLAST21
Topological domaini277 – 323VacuolarSequence analysisAdd BLAST47

Keywords - Cellular componenti

Lysosome, Membrane, Vacuole

Pathology & 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.
See also OMIM:608118
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06930954H → 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_06931087G → 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:rs185398527Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi7780
MalaCardsiSLC30A2
MIMi608118 phenotype
OpenTargetsiENSG00000158014
PharmGKBiPA35883

Polymorphism and mutation databases

BioMutaiSLC30A2
DMDMi60390858

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002060941 – 323Zinc transporter 2Add BLAST323

Proteomic databases

PeptideAtlasiQ9BRI3
PRIDEiQ9BRI3
ProteomicsDBi78767
78768 [Q9BRI3-2]

PTM databases

iPTMnetiQ9BRI3
PhosphoSitePlusiQ9BRI3

Expressioni

Gene expression databases

BgeeiENSG00000158014 Expressed in 83 organ(s), highest expression level in body of pancreas
CleanExiHS_SLC30A2
GenevisibleiQ9BRI3 HS

Organism-specific databases

HPAiHPA017979

Interactioni

Subunit structurei

Homodimer.1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi113561, 8 interactors
IntActiQ9BRI3, 66 interactors
MINTiQ9BRI3

Structurei

3D structure databases

ProteinModelPortaliQ9BRI3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

GeneTreeiENSGT00550000074381
HOGENOMiHOG000079023
HOVERGENiHBG003345
InParanoidiQ9BRI3
KOiK14689
OMAiRTWGWAR
OrthoDBiEOG091G07UN
PhylomeDBiQ9BRI3
TreeFamiTF313382

Family and domain databases

Gene3Di1.20.1510.10, 1 hit
InterProiView protein in InterPro
IPR002524 Cation_efflux
IPR036837 Cation_efflux_CTD_sf
IPR027469 Cation_efflux_TMD_sf
PfamiView protein in Pfam
PF01545 Cation_efflux, 1 hit
SUPFAMiSSF160240 SSF160240, 1 hit
SSF161111 SSF161111, 1 hit
TIGRFAMsiTIGR01297 CDF, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9BRI3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:323
Mass (Da):35,178
Last modified:June 1, 2001 - v1
Checksum:iF487412DEC7B38CB
GO
Isoform 2 (identifier: Q9BRI3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     90-90: V → VGGYLAHSLAVMTDAAHLLTDFASMLISLFSLWMSSRPATKTMNFGWQRA

Show »
Length:372
Mass (Da):40,564
Checksum:i0B004533D3B6D29C
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06930954H → 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_06931087G → 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:rs185398527Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_03975490V → VGGYLAHSLAVMTDAAHLLT DFASMLISLFSLWMSSRPAT KTMNFGWQRA in isoform 2. 1 Publication1

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
CCDSiCCDS272.1 [Q9BRI3-1]
CCDS30644.1 [Q9BRI3-2]
RefSeqiNP_001004434.1, NM_001004434.2 [Q9BRI3-2]
NP_115902.1, NM_032513.4 [Q9BRI3-1]
UniGeneiHs.143545

Genome annotation databases

EnsembliENST00000374276; ENSP00000363394; ENSG00000158014 [Q9BRI3-2]
ENST00000374278; ENSP00000363396; ENSG00000158014 [Q9BRI3-1]
GeneIDi7780
KEGGihsa:7780
UCSCiuc001blg.2 human [Q9BRI3-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar 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
CCDSiCCDS272.1 [Q9BRI3-1]
CCDS30644.1 [Q9BRI3-2]
RefSeqiNP_001004434.1, NM_001004434.2 [Q9BRI3-2]
NP_115902.1, NM_032513.4 [Q9BRI3-1]
UniGeneiHs.143545

3D structure databases

ProteinModelPortaliQ9BRI3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113561, 8 interactors
IntActiQ9BRI3, 66 interactors
MINTiQ9BRI3

Protein family/group databases

TCDBi2.A.4.3.6 the cation diffusion facilitator (cdf) family

PTM databases

iPTMnetiQ9BRI3
PhosphoSitePlusiQ9BRI3

Polymorphism and mutation databases

BioMutaiSLC30A2
DMDMi60390858

Proteomic databases

PeptideAtlasiQ9BRI3
PRIDEiQ9BRI3
ProteomicsDBi78767
78768 [Q9BRI3-2]

Protocols and materials databases

DNASUi7780
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000374276; ENSP00000363394; ENSG00000158014 [Q9BRI3-2]
ENST00000374278; ENSP00000363396; ENSG00000158014 [Q9BRI3-1]
GeneIDi7780
KEGGihsa:7780
UCSCiuc001blg.2 human [Q9BRI3-1]

Organism-specific databases

CTDi7780
DisGeNETi7780
EuPathDBiHostDB:ENSG00000158014.14
GeneCardsiSLC30A2
HGNCiHGNC:11013 SLC30A2
HPAiHPA017979
MalaCardsiSLC30A2
MIMi608118 phenotype
609617 gene
neXtProtiNX_Q9BRI3
OpenTargetsiENSG00000158014
PharmGKBiPA35883
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00550000074381
HOGENOMiHOG000079023
HOVERGENiHBG003345
InParanoidiQ9BRI3
KOiK14689
OMAiRTWGWAR
OrthoDBiEOG091G07UN
PhylomeDBiQ9BRI3
TreeFamiTF313382

Enzyme and pathway databases

ReactomeiR-HSA-435368 Zinc efflux and compartmentalization by the SLC30 family

Miscellaneous databases

ChiTaRSiSLC30A2 human
GenomeRNAii7780
PROiPR:Q9BRI3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000158014 Expressed in 83 organ(s), highest expression level in body of pancreas
CleanExiHS_SLC30A2
GenevisibleiQ9BRI3 HS

Family and domain databases

Gene3Di1.20.1510.10, 1 hit
InterProiView protein in InterPro
IPR002524 Cation_efflux
IPR036837 Cation_efflux_CTD_sf
IPR027469 Cation_efflux_TMD_sf
PfamiView protein in Pfam
PF01545 Cation_efflux, 1 hit
SUPFAMiSSF160240 SSF160240, 1 hit
SSF161111 SSF161111, 1 hit
TIGRFAMsiTIGR01297 CDF, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiZNT2_HUMAN
AccessioniPrimary (citable) accession number: Q9BRI3
Secondary accession number(s): Q71RC8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 2005
Last sequence update: June 1, 2001
Last modified: November 7, 2018
This is version 143 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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