SLC30A2 (solute carrier family 30 member 2)

Gene

• Entrez ID: 7780
• Gene name: Solute carrier family 30 member 2
• Gene symbol: SLC30A2
• Synonyms: PP12488, TNZD, ZNT2, ZnT-2
• Chromosome: 1
• Chromosome location: 1p36.11
• Summary: The protein encoded by this gene is a zinc transporter that acts as a homodimer. The encoded protein plays a role in secreting zinc into breast milk. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, A

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs185398527	C>T	Pathogenic	Coding sequence variant, missense variant
rs587776926	T>C	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017045	hsa-miR-335-5p	Microarray	18185580
MIRT515990	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT515989	hsa-miR-6506-5p	PAR-CLIP	23446348
MIRT515988	hsa-miR-4731-5p	PAR-CLIP	23446348
MIRT515987	hsa-miR-5589-5p	PAR-CLIP	23446348
MIRT515986	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT515985	hsa-miR-6511b-5p	PAR-CLIP	23446348
MIRT515984	hsa-miR-6811-5p	PAR-CLIP	23446348
MIRT515983	hsa-miR-5089-5p	PAR-CLIP	23446348
MIRT515990	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT515989	hsa-miR-6506-5p	PAR-CLIP	23446348
MIRT515988	hsa-miR-4731-5p	PAR-CLIP	23446348
MIRT515987	hsa-miR-5589-5p	PAR-CLIP	23446348
MIRT515986	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT515985	hsa-miR-6511b-5p	PAR-CLIP	23446348
MIRT515984	hsa-miR-6811-5p	PAR-CLIP	23446348
MIRT515983	hsa-miR-5089-5p	PAR-CLIP	23446348
MIRT1359093	hsa-miR-130a	CLIP-seq
MIRT1359094	hsa-miR-130b	CLIP-seq
MIRT1359095	hsa-miR-24	CLIP-seq
MIRT1359096	hsa-miR-2682	CLIP-seq
MIRT1359097	hsa-miR-298	CLIP-seq
MIRT1359098	hsa-miR-301a	CLIP-seq
MIRT1359099	hsa-miR-301b	CLIP-seq
MIRT1359100	hsa-miR-3184	CLIP-seq
MIRT1359101	hsa-miR-3612	CLIP-seq
MIRT1359102	hsa-miR-3666	CLIP-seq
MIRT1359103	hsa-miR-423-5p	CLIP-seq
MIRT1359104	hsa-miR-4283	CLIP-seq
MIRT1359105	hsa-miR-4295	CLIP-seq
MIRT1359106	hsa-miR-432	CLIP-seq
MIRT1359107	hsa-miR-4330	CLIP-seq
MIRT1359108	hsa-miR-4437	CLIP-seq
MIRT1359109	hsa-miR-4443	CLIP-seq
MIRT1359110	hsa-miR-4473	CLIP-seq
MIRT1359111	hsa-miR-449c	CLIP-seq
MIRT1359112	hsa-miR-4534	CLIP-seq
MIRT1359113	hsa-miR-454	CLIP-seq
MIRT1359114	hsa-miR-4671-3p	CLIP-seq
MIRT1359115	hsa-miR-4687-3p	CLIP-seq
MIRT1359116	hsa-miR-4802-5p	CLIP-seq
MIRT1359117	hsa-miR-485-5p	CLIP-seq
MIRT1359118	hsa-miR-650	CLIP-seq
MIRT1359119	hsa-miR-940	CLIP-seq
MIRT2106342	hsa-miR-3136-3p	CLIP-seq
MIRT2330637	hsa-miR-1266	CLIP-seq
MIRT2330638	hsa-miR-4518	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005385	Function	Zinc ion transmembrane transporter activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	25416956, 25657003, 25910212, 26728129, 26871637, 31515488, 32296183
GO:0005737	Component	Cytoplasm	IDA	17349999
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005770	Component	Late endosome	IDA	17349999
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0010043	Process	Response to zinc ion	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0042802	Function	Identical protein binding	IPI	25657003
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0061088	Process	Regulation of sequestering of zinc ion	IBA	21873635
GO:0061090	Process	Positive regulation of sequestering of zinc ion	IDA	17349999
GO:0071577	Process	Zinc ion transmembrane transport	IBA	21873635

Other IDs

• MIM: 609617
• HGNC: 11013
• e!Ensembl: ENSG00000158014

Protein

• UniProt ID: Q9BRI3
• Protein name: Proton-coupled zinc antiporter SLC30A2 (Solute carrier family 30 member 2) (Zinc transporter 2) (ZnT-2)
• Protein 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
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01545	Cation_efflux	76 → 229	Cation efflux family	Family

• Sequence:

  MEAKEKQHLLDARPAIRSYTGSLWQEGAGWIPLPRPGLDLQAIELAAQSNHHCHAQKGPD
  SHCDPKKGKAQRQLYVASAICLLFMIGEVVEILGALVSVLSIWVVTGVLVYLAVERLISG
  DYEIDGGTMLITSGCAVAVNIIMGLTLHQSGHGHSHGTTNQQEENPSVRAAFIHVIGDFM
  QSMGVLVAAYILYFKPEYKYVDPICTFVFSILVLGTTLTILRDVILVLMEGTPKGVDFTA
  VRDLLLSVEGVEALHSLHIWALTVAQPVLSVHIAIAQNTDAQAVLKTASSRLQGKFHFHT
  VTIQIEDYSEDMKDCQACQGPSD

• Sequence length: 323

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Zinc deficiency	Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc	rs587776926, rs185398527	17065149, 22733820

Unknown
Disease name	Disease term	dbSNP ID	References
Alopecia	Alopecia
Eczema	Eczema