SLC30A8 solute carrier family 30 member 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC30A8provided by HGNC
Official Full Name: solute carrier family 30 member 8provided by HGNC
Primary source: HGNC:HGNC:20303
See related: Ensembl:ENSG00000164756 MIM:611145; AllianceGenome:HGNC:20303
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ZNT8; ZnT-8
Summary: The protein encoded by this gene is a zinc efflux transporter involved in the accumulation of zinc in intracellular vesicles. This gene is expressed at a high level only in the pancreas, particularly in islets of Langerhans. The encoded protein colocalizes with insulin in the secretory pathway granules of the insulin-secreting INS-1 cells. Allelic variants of this gene exist that confer susceptibility to diabetes mellitus, noninsulin-dependent (NIDDM). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
Expression: Biased expression in pancreas (RPKM 4.1), kidney (RPKM 1.7) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q24.11

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (116950217..117176714)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (118078388..118305142)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (117962456..118188953)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Electrophysiological Characterization of Inducible Pluripotent Stem Cell-Derived Human beta-Like Cells and an SLC30A8 Disease Model.
Title: Electrophysiological Characterization of Inducible Pluripotent Stem Cell-Derived Human β-Like Cells and an SLC30A8 Disease Model.
Multiple genetic variants at the SLC30A8 locus affect local super-enhancer activity and influence pancreatic beta-cell survival and function.
Title: Multiple genetic variants at the SLC30A8 locus affect local super-enhancer activity and influence pancreatic β-cell survival and function.
Association of HHEX and SLC30A8 Gene Polymorphisms with Gestational Diabetes Mellitus Susceptibility: A Meta-analysis.
Title: Association of HHEX and SLC30A8 Gene Polymorphisms with Gestational Diabetes Mellitus Susceptibility: A Meta-analysis.
Zinc intake, SLC30A8 rs3802177 polymorphism, and colorectal cancer risk in a Korean population: a case-control study.
Title: Zinc intake, SLC30A8 rs3802177 polymorphism, and colorectal cancer risk in a Korean population: a case-control study.
Association of solute carrier family 30 A8 zinc transporter gene variations with gestational diabetes mellitus risk in a Chinese population.
Title: Association of solute carrier family 30 A8 zinc transporter gene variations with gestational diabetes mellitus risk in a Chinese population.
ZnT8 Loss of Function Mutation Increases Resistance of Human Embryonic Stem Cell-Derived Beta Cells to Apoptosis in Low Zinc Condition.
Title: ZnT8 Loss of Function Mutation Increases Resistance of Human Embryonic Stem Cell-Derived Beta Cells to Apoptosis in Low Zinc Condition.
Effects of a genetic variant rs13266634 in the zinc transporter 8 gene (SLC30A8) on insulin and lipid levels before and after a high-fat mixed macronutrient tolerance test in U.S. adults.
Title: Effects of a genetic variant rs13266634 in the zinc transporter 8 gene (SLC30A8) on insulin and lipid levels before and after a high-fat mixed macronutrient tolerance test in U.S. adults.
Relationship Between the Single Nucleotide Polymorphism rs11558471 in the SLC30A8/ZnT8 Gene and Cardiometabolic Markers in Postmenopausal Women.
Title: Relationship Between the Single Nucleotide Polymorphism rs11558471 in the SLC30A8/ZnT8 Gene and Cardiometabolic Markers in Postmenopausal Women.
Integrated analysis of probability of type 2 diabetes mellitus with polymorphisms and methylation of SLC30A8 gene: a nested case-control study.
Title: Integrated analysis of probability of type 2 diabetes mellitus with polymorphisms and methylation of SLC30A8 gene: a nested case-control study.
Additive genetic effect of GCKR, G6PC2, and SLC30A8 variants on fasting glucose levels and risk of type 2 diabetes.
Title: Additive genetic effect of GCKR, G6PC2, and SLC30A8 variants on fasting glucose levels and risk of type 2 diabetes.

Submit: New GeneRIF Correction See all GeneRIFs (154)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Type 2 diabetes mellitus MedGen: C0011860 OMIM: 125853 GeneReviews: WFS1 Spectrum Disorder	not available

EBI GWAS Catalog

Description
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study identifies novel risk loci for type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. EBI GWAS Catalog EBI GWAS CatalogPubMed
A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data. EBI GWAS Catalog EBI GWAS CatalogPubMed
Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study and meta-analysis of intraocular pressure. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies HLA-DP as a susceptibility gene for pediatric asthma in Asian populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies three novel loci for type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians. EBI GWAS Catalog EBI GWAS CatalogPubMed
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases. EBI GWAS Catalog EBI GWAS CatalogPubMed
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S1673 (e-PCR)
- UniSTS:79948

NoName (e-PCR)
- UniSTS:490349

SHGC-154540 (e-PCR)
- UniSTS:184763

D8S1201 (e-PCR)
- UniSTS:150255

SHGC-147089 (e-PCR)
- UniSTS:175603

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables zinc ion binding	IC Inferred by Curator more info	PubMed
enables zinc ion transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion transmembrane transporter activity	TAS Traceable Author Statement more info
enables zinc:proton antiporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
NOT involved_in glucose homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in insulin processing	TAS Traceable Author Statement more info
involved_in insulin secretion	IBA Inferred from Biological aspect of Ancestor more info
involved_in insulin secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular zinc ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of insulin secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of vesicle-mediated transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to glucose	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to glucose	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to interleukin-1	IEA Inferred from Electronic Annotation more info
involved_in response to type II interferon	IEA Inferred from Electronic Annotation more info
involved_in response to zinc ion	IBA Inferred from Biological aspect of Ancestor more info
involved_in zinc ion import across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in zinc ion import into organelle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in zinc ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in zinc ion transmembrane transport	TAS Traceable Author Statement more info
involved_in zinc ion transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
NOT located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in cytoplasmic vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in secretory granule	IDA Inferred from Direct Assay more info	PubMed
located_in secretory granule membrane	IDA Inferred from Direct Assay more info	PubMed
located_in secretory granule membrane	TAS Traceable Author Statement more info
located_in transport vesicle membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: proton-coupled zinc antiporter SLC30A8

Names: solute carrier family 30 (zinc transporter), member 8; zinc transporter ZnT-8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016991.1 RefSeqGene

Range

189723..231442

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001172811.2 → NP_001166282.1 proton-coupled zinc antiporter SLC30A8 isoform b

See identical proteins and their annotated locations for NP_001166282.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, 4, and 5 all encode isoform b.

Source sequence(s)

AC084114, AC087350, AK298294, EF560713

Consensus CDS

CCDS55272.1

UniProtKB/Swiss-Prot

Q8IWU4

Related

ENSP00000428545.1, ENST00000521243.5

Conserved Domains (1) summary

TIGR01297
Location:34 → 304

CDF; cation diffusion facilitator family transporter
NM_001172813.2 → NP_001166284.1 proton-coupled zinc antiporter SLC30A8 isoform b

See identical proteins and their annotated locations for NP_001166284.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, 4, and 5 all encode isoform b.

Source sequence(s)

AC027419, AC084114, AK298294

Consensus CDS

CCDS55272.1

UniProtKB/Swiss-Prot

Q8IWU4

Conserved Domains (1) summary

TIGR01297
Location:34 → 304

CDF; cation diffusion facilitator family transporter
NM_001172814.2 → NP_001166285.1 proton-coupled zinc antiporter SLC30A8 isoform b

See identical proteins and their annotated locations for NP_001166285.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, 4, and 5 all encode isoform b.

Source sequence(s)

AC027419, AC084114, BC126446, BQ631692

Consensus CDS

CCDS55272.1

UniProtKB/Swiss-Prot

Q8IWU4

Related

ENSP00000431069.1, ENST00000519688.5

Conserved Domains (1) summary

TIGR01297
Location:34 → 304

CDF; cation diffusion facilitator family transporter
NM_001172815.3 → NP_001166286.1 proton-coupled zinc antiporter SLC30A8 isoform b

See identical proteins and their annotated locations for NP_001166286.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, 4, and 5 all encode isoform b.

Source sequence(s)

AC084114, AK298294, AL713790, BC126446, BC143953

Consensus CDS

CCDS55272.1

UniProtKB/Swiss-Prot

Q8IWU4

Related

ENSP00000407505.2, ENST00000427715.2

Conserved Domains (1) summary

TIGR01297
Location:34 → 304

CDF; cation diffusion facilitator family transporter
NM_173851.3 → NP_776250.2 proton-coupled zinc antiporter SLC30A8 isoform a

See identical proteins and their annotated locations for NP_776250.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AC084114, AL713790, AY117411, BM565086, BU949895

Consensus CDS

CCDS6322.1

UniProtKB/Swiss-Prot

A0AVP9, A5YM39, B4DPE0, Q8IWU4, Q8TCL3

Related

ENSP00000415011.2, ENST00000456015.7

Conserved Domains (2) summary

TIGR01297
Location:83 → 353

CDF; cation diffusion facilitator family transporter

pfam01545
Location:83 → 274

Cation_efflux; Cation efflux family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

116950217..117176714

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024447083.2 → XP_024302851.1 proton-coupled zinc antiporter SLC30A8 isoform X1

Conserved Domains (1) summary

TIGR01297
Location:34 → 304

CDF; cation diffusion facilitator family transporter