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

Gene ID: 169026, updated on 14-May-2019

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
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

Genomic context

See SLC30A8 in Genome Data Viewer
Location:
8q24.11
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (116950273..117176714)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (117962512..118188953)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375715 Neighboring gene alanine and arginine rich domain containing protein Neighboring gene RNA, 7SL, cytoplasmic 228, pseudogene Neighboring gene uncharacterized LOC105375716 Neighboring gene uncharacterized LOC107986969 Neighboring gene uncharacterized LOC105375719 Neighboring gene RNA, 7SL, cytoplasmic 826, pseudogene Neighboring gene uncharacterized LOC105375717 Neighboring gene ribosomal protein S10 pseudogene 16 Neighboring gene mediator complex subunit 30

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Diabetes mellitus type 2
MedGen: C0011860 OMIM: 125853 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
zinc ion binding IC
Inferred by Curator
more info
PubMed 
zinc ion transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zinc ion transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion transmembrane transporter activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
cellular zinc ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT glucose homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
insulin secretion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
insulin secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of insulin secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of sequestering of zinc ion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of sequestering of zinc ion ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of vesicle-mediated transport ISS
Inferred from Sequence or Structural Similarity
more info
 
response to glucose IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to glucose IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to interferon-gamma IEA
Inferred from Electronic Annotation
more info
 
response to interleukin-1 IEA
Inferred from Electronic Annotation
more info
 
response to zinc ion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sequestering of zinc ion IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zinc ion transport IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
NOT Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
secretory granule IDA
Inferred from Direct Assay
more info
PubMed 
secretory granule membrane TAS
Traceable Author Statement
more info
 
transport vesicle membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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

  1. NG_016991.1 RefSeqGene

    Range
    5679..231442
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001172811.1NP_001166282.1  zinc transporter 8 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, AK298294, EF560713
    Consensus CDS
    CCDS55272.1
    UniProtKB/Swiss-Prot
    Q8IWU4
    Related
    ENSP00000428545.1, ENST00000521243.5
    Conserved Domains (1) summary
    TIGR01297
    Location:34304
    CDF; cation diffusion facilitator family transporter
  2. NM_001172813.1NP_001166284.1  zinc transporter 8 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:34304
    CDF; cation diffusion facilitator family transporter
  3. NM_001172814.1NP_001166285.1  zinc transporter 8 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)
    AC084114, BC126446, BQ631692
    Consensus CDS
    CCDS55272.1
    UniProtKB/Swiss-Prot
    Q8IWU4
    Related
    ENSP00000431069.1, ENST00000519688.5
    Conserved Domains (1) summary
    TIGR01297
    Location:34304
    CDF; cation diffusion facilitator family transporter
  4. NM_001172815.2NP_001166286.1  zinc transporter 8 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:34304
    CDF; cation diffusion facilitator family transporter
  5. NM_173851.2NP_776250.2  zinc transporter 8 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, BU949895
    Consensus CDS
    CCDS6322.1
    UniProtKB/Swiss-Prot
    Q8IWU4
    Related
    ENSP00000415011.2, ENST00000456015.6
    Conserved Domains (2) summary
    TIGR01297
    Location:83353
    CDF; cation diffusion facilitator family transporter
    pfam01545
    Location:83274
    Cation_efflux; Cation efflux family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    116950273..117176714
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447083.1XP_024302851.1  zinc transporter 8 isoform X1

    Conserved Domains (1) summary
    TIGR01297
    Location:34304
    CDF; cation diffusion facilitator family transporter
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