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

    Gene ID: 169026, updated on 25-May-2017
    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; Vega:OTTHUMG00000164962
    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]
    Orthologs
    Location:
    8q24.11
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    Products Interactant Other Gene Complex Source Pubs Description

    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 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 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
     
    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 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
     
    sequestering of zinc ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    zinc II ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    zinc II 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 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
     
    Preferred Names
    zinc transporter 8
    Names
    solute carrier family 30 (zinc transporter), member 8
    zinc transporter ZnT-8

    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, OTTHUMP00000228049, ENST00000521243.5, OTTHUMT00000381197
      Conserved Domains (2) summary
      TIGR01297
      Location:34304
      CDF; cation diffusion facilitator family transporter
      pfam01545
      Location:34225
      Cation_efflux; Cation efflux family
    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 (2) summary
      TIGR01297
      Location:34304
      CDF; cation diffusion facilitator family transporter
      pfam01545
      Location:34225
      Cation_efflux; Cation efflux family
    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, OTTHUMP00000228051, ENST00000519688.5, OTTHUMT00000381204
      Conserved Domains (2) summary
      TIGR01297
      Location:34304
      CDF; cation diffusion facilitator family transporter
      pfam01545
      Location:34225
      Cation_efflux; Cation efflux family
    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 (2) summary
      TIGR01297
      Location:34304
      CDF; cation diffusion facilitator family transporter
      pfam01545
      Location:34225
      Cation_efflux; Cation efflux family
    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, OTTHUMP00000228052, ENST00000456015.6, OTTHUMT00000381205
      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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      118002722..118228963
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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