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    SLC39A8 solute carrier family 39 member 8 [ Homo sapiens (human) ]

    Gene ID: 64116, updated on 5-Feb-2024

    Summary

    Official Symbol
    SLC39A8provided by HGNC
    Official Full Name
    solute carrier family 39 member 8provided by HGNC
    Primary source
    HGNC:HGNC:20862
    See related
    Ensembl:ENSG00000138821 MIM:608732; AllianceGenome:HGNC:20862
    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
    ZIP8; CDG2N; PP3105; BIGM103; LZT-Hs6
    Summary
    This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import of zinc at the onset of inflammation. It is also thought to be the primary transporter of the toxic cation cadmium, which is found in cigarette smoke. Multiple transcript variants encoding different isoforms have been found for this gene. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Oct 2008]
    Expression
    Biased expression in lung (RPKM 46.9), colon (RPKM 11.2) and 13 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC39A8 in Genome Data Viewer
    Location:
    4q24
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (102251041..102345482, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (105565252..105659701, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (103172198..103266639, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986297 Neighboring gene Sharpr-MPRA regulatory region 13477 Neighboring gene RNA, U6 small nuclear 462, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15594 Neighboring gene B cell scaffold protein with ankyrin repeats 1 Neighboring gene MPRA-validated peak5084 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:102874961-102875511 Neighboring gene MPRA-validated peak5086 silencer Neighboring gene MT-ND5 pseudogene 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:103131807-103132405 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:103131208-103131806 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:103188587-103189786 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:103242691-103243218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21750 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21751 Neighboring gene RNA, 7SL, cytoplasmic 728, pseudogene Neighboring gene uncharacterized LOC105377621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21752 Neighboring gene zinc finger protein 705A pseudogene

    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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    SLC39A8-CDG
    MedGen: C4225234 OMIM: 616721 GeneReviews: SLC39A8-CDG
    Compare labs

    EBI GWAS Catalog

    Description
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    EBI GWAS Catalog
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
    EBI GWAS Catalog
    Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables monoatomic cation:bicarbonate symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables monoatomic cation:bicarbonate symporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables zinc ion transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables zinc ion transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    enables zinc:bicarbonate symporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of arginine metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in bicarbonate transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cadmium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of cartilage homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular detoxification of cadmium ion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cobalt ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of extracellular matrix organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intracellular manganese ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in intracellular zinc ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in iron ion import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of leukocyte adhesion to arterial endothelial cell ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in manganese ion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mercury ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrial manganese ion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_negative_effect negative regulation of canonical NF-kappaB signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_negative_effect negative regulation of inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in plasma membrane selenite transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of protein N-linked glycosylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of membrane potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in zinc ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in zinc ion import across plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in zinc ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in zinc ion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in zinc ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    involved_in zinc ion transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in organelle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    metal cation symporter ZIP8
    Names
    BCG induced integral membrane protein BIGM103
    BCG-induced integral membrane protein in monocyte clone 103 protein
    LIV-1 subfamily of ZIP zinc transporter 6
    ZIP-8
    ZRT/IRT-like protein 8
    Zinc transporter 8
    Zrt- and Irt-like protein 8
    solute carrier family 39 (metal ion transporter), member 8
    zinc transporter ZIP8

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_047177.1 RefSeqGene

      Range
      5017..88833
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001135146.2NP_001128618.1  metal cation symporter ZIP8 isoform a precursor

      See identical proteins and their annotated locations for NP_001128618.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AP002023, BC001320, BC012125, DR006301
      Consensus CDS
      CCDS3656.1
      UniProtKB/Swiss-Prot
      B4E2H3, Q96SM9, Q9BVC0, Q9C0K1, Q9NSA4
      UniProtKB/TrEMBL
      A0A804HKW0
      Related
      ENSP00000349174.4, ENST00000356736.5
      Conserved Domains (1) summary
      pfam02535
      Location:126451
      Zip; ZIP Zinc transporter
    2. NM_001135147.1NP_001128619.1  metal cation symporter ZIP8 isoform b precursor

      See identical proteins and their annotated locations for NP_001128619.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and contains additional coding exons in the 3' CDS, compared to variant 1. The resulting protein (isoform b) has a shorter and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC098487, AK304274, AP002023, BF000600, CA438467
      UniProtKB/TrEMBL
      A0A804HKW0
      Conserved Domains (1) summary
      pfam02535
      Location:126422
      Zip; ZIP Zinc transporter
    3. NM_001135148.2NP_001128620.1  metal cation symporter ZIP8 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has a distinct 5' exon, compared to variant 1. The resulting protein (isoform c) has a shorter and distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AK027652, AP002023, BC001320
      UniProtKB/Swiss-Prot
      Q9C0K1
      Related
      ENST00000683401.1
      Conserved Domains (1) summary
      pfam02535
      Location:59384
      Zip; ZIP Zinc transporter
    4. NM_022154.5NP_071437.3  metal cation symporter ZIP8 isoform a precursor

      See identical proteins and their annotated locations for NP_071437.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AP002023, BC001320, BC012125, BI823248
      Consensus CDS
      CCDS3656.1
      UniProtKB/Swiss-Prot
      B4E2H3, Q96SM9, Q9BVC0, Q9C0K1, Q9NSA4
      UniProtKB/TrEMBL
      A0A804HKW0
      Related
      ENSP00000378310.2, ENST00000394833.6
      Conserved Domains (1) summary
      pfam02535
      Location:126451
      Zip; ZIP Zinc transporter

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      102251041..102345482 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024454184.2XP_024309952.1  metal cation symporter ZIP8 isoform X5

      UniProtKB/TrEMBL
      A0A804HKW0
      Conserved Domains (1) summary
      pfam02535
      Location:126422
      Zip; ZIP Zinc transporter
    2. XM_047416070.1XP_047272026.1  metal cation symporter ZIP8 isoform X1

      UniProtKB/Swiss-Prot
      B4E2H3, Q96SM9, Q9BVC0, Q9C0K1, Q9NSA4
      UniProtKB/TrEMBL
      A0A804HKW0
    3. XM_017008541.2XP_016864030.1  metal cation symporter ZIP8 isoform X2

      UniProtKB/Swiss-Prot
      Q9C0K1
      Conserved Domains (1) summary
      pfam02535
      Location:59384
      Zip; ZIP Zinc transporter
    4. XM_047416071.1XP_047272027.1  metal cation symporter ZIP8 isoform X4

    5. XM_024454183.2XP_024309951.1  metal cation symporter ZIP8 isoform X3

      UniProtKB/TrEMBL
      A0A804HJR0
      Related
      ENSP00000507611.1, ENST00000684386.1
      Conserved Domains (1) summary
      cl00437
      Location:126281
      Zip; ZIP Zinc transporter

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      105565252..105659701 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350709.1XP_054206684.1  metal cation symporter ZIP8 isoform X5

      UniProtKB/TrEMBL
      A0A804HKW0
    2. XM_054350705.1XP_054206680.1  metal cation symporter ZIP8 isoform X1

      UniProtKB/Swiss-Prot
      B4E2H3, Q96SM9, Q9BVC0, Q9C0K1, Q9NSA4
      UniProtKB/TrEMBL
      A0A804HKW0
    3. XM_054350706.1XP_054206681.1  metal cation symporter ZIP8 isoform X2

    4. XM_054350708.1XP_054206683.1  metal cation symporter ZIP8 isoform X4

    5. XM_054350707.1XP_054206682.1  metal cation symporter ZIP8 isoform X3

      UniProtKB/TrEMBL
      A0A804HJR0