Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	7780
Gene name	Solute carrier family 30 member 2
Gene symbol	SLC30A2
Synonyms (NCBI Gene)	PP12488TNZDZNT2ZnT-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

Show/Hide all (2)

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

Show/Hide all (47)

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

Show/Hide all (48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005385	Function	Zinc ion transmembrane transporter activity	IBA
GO:0005385	Function	Zinc ion transmembrane transporter activity	IDA	17349999
GO:0005515	Function	Protein binding	IPI	25416956, 25657003, 25808614, 25910212, 26728129, 26871637, 31515488, 32296183, 36204728
GO:0005737	Component	Cytoplasm	IDA	17349999
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	21289295
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IDA	25808614, 30893306
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IDA	17349999
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	19496757
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	IEA
GO:0006829	Process	Zinc ion transport	IEA
GO:0006882	Process	Intracellular zinc ion homeostasis	IC	19496757
GO:0008324	Function	Monoatomic cation transmembrane transporter activity	IEA
GO:0010008	Component	Endosome membrane	IDA	19496757
GO:0010008	Component	Endosome membrane	IEA
GO:0010043	Process	Response to zinc ion	IBA
GO:0015297	Function	Antiporter activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0030658	Component	Transport vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0042589	Component	Zymogen granule membrane	IEA
GO:0042589	Component	Zymogen granule membrane	ISS
GO:0042802	Function	Identical protein binding	IDA	22733820
GO:0042802	Function	Identical protein binding	IPI	25657003
GO:0046872	Function	Metal ion binding	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0062111	Process	Zinc ion import into organelle	IDA	21289295, 30893306
GO:0062111	Process	Zinc ion import into organelle	IEA
GO:0062111	Process	Zinc ion import into organelle	IMP	22733820
GO:0071577	Process	Zinc ion transmembrane transport	IBA
GO:0099503	Component	Secretory vesicle	IDA	19496757
GO:0140826	Function	Zinc:proton antiporter activity	IC	19496757
GO:0140826	Function	Zinc:proton antiporter activity	IDA	30893306
GO:0140882	Process	Zinc export across plasma membrane	IDA	19496757
GO:0140914	Process	Zinc ion import into secretory vesicle	IDA	19496757
GO:0140915	Process	Zinc ion import into zymogen granule	ISS
GO:0140916	Process	Zinc ion import into lysosome	IDA	17349999
GO:0140916	Process	Zinc ion import into lysosome	IMP	25808614
GO:0140917	Process	Zinc ion import into mitochondrion	IEA
GO:0140917	Process	Zinc ion import into mitochondrion	ISS

MIM	HGNC	e!Ensembl
609617	11013	ENSG00000158014

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

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Zinc deficiency, transient neonatal	Likely pathogenic; Pathogenic	rs2522690335, rs587776926, rs185398527	RCV002470572 RCV000032750 RCV000032751	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC30A2-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (14)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alopecia	Alopecia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast Diseases	BEFREE	20858712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia Verruciformis	BEFREE	29439479		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	20579458	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	29635109		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21353385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21353385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	35049094	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33110097, 37591783, 39473403	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc	Zinc deficiency	UNIPROT_DG	17065149, 22733820		★★★★★ ★☆☆☆☆ Found in Text Mining only
Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc	Zinc deficiency	CTD_human_DG	17065149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc	Zinc deficiency	BEFREE	22733820, 24456035, 27304099, 28665435, 30450693		★★★★★ ★☆☆☆☆ Found in Text Mining only
Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc	Zinc deficiency	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC30A2 (solute carrier family 30 member 2)