SLC30A2

Functionⁱ

GO - Molecular functionⁱ

zinc ion transmembrane transporter activity Source: GO_Central

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

positive regulation of sequestering of zinc ion
Source: BHF-UCL
Inferred from direct assayⁱ
- 17349999
response to zinc ion Source: GO_Central

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Ion transport, Transport, Zinc transport
Ligand	Zinc

Enzyme and pathway databases

Reactomeⁱ	R-HSA-435368 Zinc efflux and compartmentalization by the SLC30 family

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

TCDBⁱ

2.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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 1

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000158014.14
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:11013 SLC30A2
MIMⁱ	609617 gene
neXtProtⁱ	NX_Q9BRI3

Topology

Feature key	Position(s)	DescriptionActions	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, 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.

Keywords - Diseaseⁱ

Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	7780
MalaCards human disease database More...MalaCardsⁱ	SLC30A2
MIMⁱ	608118 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000158014
PharmGKBⁱ	PA35883

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

PeptideAtlas More...PeptideAtlasⁱ	Q9BRI3
PRIDEⁱ	Q9BRI3
ProteomicsDBⁱ	78767 78768 [Q9BRI3-2]

PTM databases

iPTMnetⁱ	Q9BRI3
PhosphoSitePlusⁱ	Q9BRI3

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000158014
CleanExⁱ	HS_SLC30A2
Genevisibleⁱ	Q9BRI3 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA017979

HPAⁱ

HPA017979

Interactionⁱ

Subunit structureⁱ

Homodimer.1 Publication

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
ADAM33	Q08AM2	5	EBI-8644112,EBI-10225815
ADAM33	Q9BZ11-2	3	EBI-8644112,EBI-10303054
ATP13A1	Q9HD20-3	4	EBI-8644112,EBI-12069500
CCDC155	Q8N6L0	8	EBI-8644112,EBI-749265
CCL4	P13236	5	EBI-8644112,EBI-2873970
CCL4L2	Q8NHW4	3	EBI-8644112,EBI-10271156
CD99L2	A0A0S2Z5R8	3	EBI-8644112,EBI-16434925
CREB3	O43889-2	3	EBI-8644112,EBI-625022
LTA	Q6FG55	3	EBI-8644112,EBI-11984863
PVR	P15151	7	EBI-8644112,EBI-3919694
SERPING1	E9PK97	3	EBI-8644112,EBI-16434941
SLC30A1	Q9Y6M5	4	EBI-8644112,EBI-10982148
SLC30A10	Q6XR72	3	EBI-8644112,EBI-13917996
SLC30A3	Q99726	7	EBI-8644112,EBI-10294651
SLC30A4	O14863	4	EBI-8644112,EBI-13918058
Tfrc	Q99376	3	EBI-8644112,EBI-2112551	From Rattus norvegicus.
TNFRSF12A	Q9NP84	5	EBI-8644112,EBI-2851995

Show more details

Protein-protein interaction databases

BioGridⁱ	113561, 8 interactors
IntActⁱ	Q9BRI3, 66 interactors
Molecular INTeraction database More...MINTⁱ	Q9BRI3

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q9BRI3
ModBaseⁱ	Search...
MobiDBⁱ	Search...

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 helix

Phylogenomic databases

Ensembl GeneTree More...GeneTreeⁱ	ENSGT00550000074381
HOGENOMⁱ	HOG000079023
HOVERGENⁱ	HBG003345
InParanoidⁱ	Q9BRI3
KEGG Orthology (KO) More...KOⁱ	K14689
OMAⁱ	SEDMKDC
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G07UN
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
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF01545 Cation_efflux, 1 hit
SUPFAMⁱ	SSF160240 SSF160240, 1 hit SSF161111 SSF161111, 1 hit
TIGRFAMsⁱ	TIGR01297 CDF, 1 hit

Sequences (2)ⁱ

Sequence statusⁱ: Complete.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket Added to basket

Isoform 1 (identifier: Q9BRI3-1) [UniParc]FASTA Add 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]FASTA Add to basket

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

« Hide

        10         20         30         40         50
MEAKEKQHLL DARPAIRSYT GSLWQEGAGW IPLPRPGLDL QAIELAAQSN 
        60         70         80         90        100
HHCHAQKGPD SHCDPKKGKA QRQLYVASAI CLLFMIGEVV GGYLAHSLAV 
       110        120        130        140        150
MTDAAHLLTD FASMLISLFS LWMSSRPATK TMNFGWQRAE ILGALVSVLS 
       160        170        180        190        200
IWVVTGVLVY LAVERLISGD YEIDGGTMLI TSGCAVAVNI IMGLTLHQSG 
       210        220        230        240        250
HGHSHGTTNQ QEENPSVRAA FIHVIGDFMQ SMGVLVAAYI LYFKPEYKYV 
       260        270        280        290        300
DPICTFVFSI LVLGTTLTIL RDVILVLMEG TPKGVDFTAV RDLLLSVEGV 
       310        320        330        340        350
EALHSLHIWA LTVAQPVLSV HIAIAQNTDA QAVLKTASSR LQGKFHFHTV 
       360        370 
TIQIEDYSED MKDCQACQGP SD

Show »

Length:372

Mass (Da):40,564

Checksum:ⁱ0B004533D3B6D29C

GO

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:rs185398527Ensembl.		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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS272.1 [Q9BRI3-1] CCDS30644.1 [Q9BRI3-2]
NCBI Reference Sequences More...RefSeqⁱ	NP_001004434.1, NM_001004434.2 [Q9BRI3-2] NP_115902.1, NM_032513.4 [Q9BRI3-1]
UniGeneⁱ	Hs.143545

Genome annotation databases

Ensemblⁱ	ENST00000374276; ENSP00000363394; ENSG00000158014 [Q9BRI3-2] ENST00000374278; ENSP00000363396; ENSG00000158014 [Q9BRI3-1]
GeneIDⁱ	7780
KEGGⁱ	hsa:7780
UCSC genome browser More...UCSCⁱ	uc001blg.2 human [Q9BRI3-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length
Q9BRI3	UPI00083C028C		RHIBE		334
Solute carrier family 30 member 2		MACMU		323
Solute carrier family 30 member 2		COLAP		323
Solute carrier family 30 member 2		MACFA		323
Solute carrier family 30 member 2		MACNE		323
+11
Q9BRI3-2	UPI00083C5D1E		RHIBE		383
Solute carrier family 30 member 2		RHIRO		372
Solute carrier family 30 member 2		PANPA		372
Solute carrier family 30 member 2		CERAT		372
SLC30A2 isoform 2		PANTR		372
+15

Protein	Similar proteins		Species	Score	Length
Q9BRI3	UPI00083C028C		RHIBE		334
Solute carrier family 30 member 2		NOMLE		323
Solute carrier family 30 member 2		RHIRO		323
SLC30A2 isoform 2		PONAB		323
Solute carrier family 30 member 2		CERAT		323
+52
Q9BRI3-2	UPI00083C5D1E		RHIBE		383
Solute carrier family 30 member 2		RHIRO		372
Solute carrier family 30 member 2		PANTR		372
Solute carrier family 30 member 2		GORGO		372
Solute carrier family 30 member 2		CERAT		372
+147

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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS272.1 [Q9BRI3-1] CCDS30644.1 [Q9BRI3-2]
NCBI Reference Sequences More...RefSeqⁱ	NP_001004434.1, NM_001004434.2 [Q9BRI3-2] NP_115902.1, NM_032513.4 [Q9BRI3-1]
UniGeneⁱ	Hs.143545

3D structure databases

ProteinModelPortalⁱ	Q9BRI3
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	113561, 8 interactors
IntActⁱ	Q9BRI3, 66 interactors
Molecular INTeraction database More...MINTⁱ	Q9BRI3

Protein family/group databases

TCDBⁱ	2.A.4.3.6 the cation diffusion facilitator (cdf) family

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

PeptideAtlas More...PeptideAtlasⁱ	Q9BRI3
PRIDEⁱ	Q9BRI3
ProteomicsDBⁱ	78767 78768 [Q9BRI3-2]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	7780
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000374276; ENSP00000363394; ENSG00000158014 [Q9BRI3-2] ENST00000374278; ENSP00000363396; ENSG00000158014 [Q9BRI3-1]
GeneIDⁱ	7780
KEGGⁱ	hsa:7780
UCSC genome browser More...UCSCⁱ	uc001blg.2 human [Q9BRI3-1]

Organism-specific databases

CTDⁱ	7780
DisGeNET More...DisGeNETⁱ	7780
EuPathDBⁱ	HostDB:ENSG00000158014.14
GeneCardsⁱ	SLC30A2
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:11013 SLC30A2
Human Protein Atlas More...HPAⁱ	HPA017979
MalaCards human disease database More...MalaCardsⁱ	SLC30A2
MIMⁱ	608118 phenotype 609617 gene
neXtProtⁱ	NX_Q9BRI3
Open Targets More...OpenTargetsⁱ	ENSG00000158014
PharmGKBⁱ	PA35883
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

Ensembl GeneTree More...GeneTreeⁱ	ENSGT00550000074381
HOGENOMⁱ	HOG000079023
HOVERGENⁱ	HBG003345
InParanoidⁱ	Q9BRI3
KEGG Orthology (KO) More...KOⁱ	K14689
OMAⁱ	SEDMKDC
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G07UN
PhylomeDBⁱ	Q9BRI3
TreeFamⁱ	TF313382

Enzyme and pathway databases

Reactomeⁱ	R-HSA-435368 Zinc efflux and compartmentalization by the SLC30 family

Reactomeⁱ

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

Miscellaneous databases

ChiTaRSⁱ	SLC30A2 human
GenomeRNAiⁱ	7780
Protein Ontology More...PROⁱ	PR:Q9BRI3
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000158014
CleanExⁱ	HS_SLC30A2
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
Pfam protein domain database More...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...

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:	July 18, 2018
	This is version 141 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

Complete proteome, Reference proteome

Documents

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
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

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UniRef

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Annotation systems

Supporting data

UniProtKB - Q9BRI3 (ZNT2_HUMAN)

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Zinc transporter 2

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

Protein family/group databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Other locations

Lysosome

Endosome

Lysosome

Plasma Membrane

Other locations

Topology

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Protein family/group databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ