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Protein

Zinc transporter 2

Gene

SLC30A2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

GO - Biological processi

  • positive regulation of sequestering of zinc ion Source: BHF-UCL
  • response to zinc ion Source: GO_Central

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.

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:rs587776926Ensembl.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.

PTM databases

iPTMnetiQ9BRI3.
PhosphoSitePlusiQ9BRI3.

Expressioni

Gene expression databases

BgeeiENSG00000158014.
CleanExiHS_SLC30A2.
GenevisibleiQ9BRI3. HS.

Organism-specific databases

HPAiHPA017979.

Interactioni

Subunit structurei

Homodimer.1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi113561. 7 interactors.
IntActiQ9BRI3. 38 interactors.

Structurei

3D structure databases

ProteinModelPortaliQ9BRI3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

GeneTreeiENSGT00550000074381.
HOGENOMiHOG000079023.
HOVERGENiHBG003345.
InParanoidiQ9BRI3.
KOiK14689.
OMAiKPEYKYV.
OrthoDBiEOG091G07UN.
PhylomeDBiQ9BRI3.
TreeFamiTF313382.

Family and domain databases

Gene3Di3.30.70.1350. 1 hit.
InterProiView protein in InterPro
IPR002524. Cation_efflux.
IPR027470. Cation_efflux_CTD.
PfamiView protein in Pfam
PF01545. Cation_efflux. 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:rs587776926Ensembl.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. Translation: CAI17131.1.
AL391650 Genomic DNA. Translation: CAI17132.1.
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

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: September 27, 2017
This is version 133 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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families