SLC30A2
entrez
7780
canonical
uniprot
Q9BRI3
canonical
ensembl
ENSG00000158014
resolver
ensp
ENSP00000363394
resolver
ensp
ENSP00000363396
resolver
genesymbol
SLC30A2
resolver
genesymbol_syn
ZNT2
resolver
hgnc
HGNC:11013
resolver
uniprot
Q71RC8
resolver
uniprot_entry
ZNT2_HUMAN
resolver
uniprot_sec
Q71RC8
resolver
amino_acid_sequence
MEAKEKQHLLDARPAIRSYTGSLWQEGAGWIPLPRPGLDLQAIELAAQSNHHCHAQKGPDSHCDPKKGKAQRQLYVASAICLLFMIGEVVGGYLAHSLAVMTDAAHLLTDFASMLISLFSLWMSSRPATKTMNFGWQRAEILGALVSVLSIWVVTGVLVYLAVERLISGDYEIDGGTMLITSGCAVAVNIIMGLTLHQSGHGHSHGTTNQQEENPSVRAAFIHVIGDFMQSMGVLVAAYILYFKPEYKYVDPICTFVFSILVLGTTLTILRDVILVLMEGTPKGVDFTAVRDLLLSVEGVEALHSLHIWALTVAQPVLSVHIAIAQNTDAQAVLKTASSRLQGKFHFHTVTIQIEDYSEDMKDCQACQGPSD
uniprot
proteins
disease_involvement
DISEASE: Zinc deficiency, transient neonatal (TNZD) [MIM:608118]: A 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. {ECO:0000269|PubMed:17065149, ECO:0000269|PubMed:22733820, ECO:0000269|PubMed:25657003}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: [Isoform 1]: Electroneutral proton-coupled antiporter concentrating zinc ions into a variety of intracellular organelles including endosomes, zymogen granules and mitochondria. Thereby, plays a crucial role in cellular zinc homeostasis to confer upon cells protection against its potential cytotoxicity (PubMed:17065149, PubMed:21289295, PubMed:22733820, PubMed:25657003, PubMed:25808614, PubMed:30893306). Regulates the zinc concentration of milk, through the transport of zinc ions into secretory vesicles of mammary cells (PubMed:19496757). By concentrating zinc ions into lysosomes participates to lysosomal-mediated cell death during early mammary gland involution (PubMed:25808614). {ECO:0000269|PubMed:17065149, ECO:0000269|PubMed:19496757, ECO:0000269|PubMed:21289295, ECO:0000269|PubMed:22733820, ECO:0000269|PubMed:25657003, ECO:0000269|PubMed:25808614, ECO:0000269|PubMed:30893306}.; FUNCTION: [Isoform 2]: Electroneutral proton-coupled antiporter mediating the efflux of zinc ions through the plasma membrane. {ECO:0000269|PubMed:19496757}.
uniprot
proteins
mass_dalton
40564
uniprot
proteins
mutagenesis
MUTAGEN 51..54; /note="HHCH->AACA: Loss of localization to mitochondrial inner membrane. Loss of function in zinc ion import into mitochondrion."; /evidence="ECO:0000269|PubMed:21289295"; MUTAGEN 134..140; /note="FGWQRAE->AAWQAAA: Increased homodimerization activity."; /evidence="ECO:0000269|PubMed:22733820"; MUTAGEN 294; /note="L->V: Loss of interaction with AP3D1. Loss of localization to lysosome."; /evidence="ECO:0000269|PubMed:25808614"; MUTAGEN 296; /note="S->A: Decreased phosphorylation. Increased localization to lysosome."; /evidence="ECO:0000269|PubMed:25808614"; MUTAGEN 296; /note="S->D: Loss of localization to lysosome."; /evidence="ECO:0000269|PubMed:25808614
uniprot
proteins
post_translational_modification
PTM: Phosphorylated at Ser-296. Phosphorylation at Ser-296 prevents localization to lysosomes. Dephosphorylation of Ser-296 which triggers localization to lysosomes, accumulation of zinc into lysosomes and lysosomal-mediated cell death is induced by TNF. {ECO:0000269|PubMed:25808614}.
uniprot
proteins
protein_family
Cation diffusion facilitator (CDF) transporter (TC 2.A.4) family
uniprot
proteins
protein_family
SLC30A subfamily
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17065149
uniprot
proteins
pubmed
17897319
uniprot
proteins
pubmed
19496757
uniprot
proteins
pubmed
21289295
uniprot
proteins
pubmed
22733820
uniprot
proteins
pubmed
25657003
uniprot
proteins
pubmed
25808614
uniprot
proteins
pubmed
30893306
uniprot
proteins
pubmed
36204728
uniprot
proteins
sequence_length
372
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000269|PubMed:19496757}; Multi-pass membrane protein {ECO:0000255}. Zymogen granule membrane {ECO:0000250|UniProtKB:Q2HJ10}; Multi-pass membrane protein {ECO:0000255}. Endosome membrane {ECO:0000269|PubMed:19496757, ECO:0000269|PubMed:25808614}; Multi-pass membrane protein {ECO:0000255}. Lysosome membrane {ECO:0000269|PubMed:25808614, ECO:0000269|PubMed:30893306}; Multi-pass membrane protein {ECO:0000255}. Mitochondrion inner membrane {ECO:0000269|PubMed:21289295}; Multi-pass membrane protein {ECO:0000255}. Note=Localization to lysosomes is induced by TNF. {ECO:0000269|PubMed:25808614}.; SUBCELLULAR LOCATION: [Isoform 2]: Cell membrane {ECO:0000269|PubMed:19496757}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 141..161; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 176..196; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 221..241; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 250..270; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 305..325; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins