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

Gene ID: 64116, updated on 1-Jun-2020

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
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

Genomic context

See SLC39A8 in Genome Data Viewer
Location:
4q24
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (102251041..102345482, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (103172198..103266655, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986297 Neighboring gene RNA, U6 small nuclear 462, pseudogene Neighboring gene B cell scaffold protein with ankyrin repeats 1 Neighboring gene MT-ND5 pseudogene 5 Neighboring gene RNA, 7SL, cytoplasmic 728, pseudogene Neighboring gene uncharacterized LOC105377621 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: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
anion:cation symporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
bicarbonate transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
cadmium ion transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
cobalt ion transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
iron ion transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
manganese ion transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
selenite:proton symporter activity IDA
Inferred from Direct Assay
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
arginine metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
bicarbonate transport ISS
Inferred from Sequence or Structural Similarity
more info
 
cadmium ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
cartilage homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular cadmium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular manganese ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular zinc ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular zinc ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
cobalt ion transport ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular matrix organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
inorganic anion transport IEA
Inferred from Electronic Annotation
more info
 
iron ion import across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
leukocyte adhesion to arterial endothelial cell ISS
Inferred from Sequence or Structural Similarity
more info
 
manganese ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial manganese ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
plasma membrane selenite transport IDA
Inferred from Direct Assay
more info
PubMed 
protein N-linked glycosylation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of membrane potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
zinc ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zinc ion import across plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
zinc ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
zinc ion transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
cell IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
organelle membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
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- and Irt-like protein 8
solute carrier family 39 (metal ion transporter), member 8
zinc transporter ZIP8

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_047177.1 RefSeqGene

    Range
    5308..88835
    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
    Q9C0K1
    UniProtKB/TrEMBL
    A0A024RDG0
    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
    Consensus CDS
    CCDS47117.1
    UniProtKB/Swiss-Prot
    Q9C0K1
    Related
    ENSP00000394548.2, ENST00000424970.6
    Conserved Domains (1) summary
    pfam02535
    Location:126422
    Zip; ZIP Zinc transporter
  3. NM_001135148.1NP_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
    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
    Q9C0K1
    UniProtKB/TrEMBL
    A0A024RDG0
    Related
    ENSP00000378310.2, ENST00000394833.6
    Conserved Domains (1) summary
    pfam02535
    Location:126451
    Zip; ZIP Zinc transporter

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024454184.1XP_024309952.1  metal cation symporter ZIP8 isoform X4

    Conserved Domains (1) summary
    pfam02535
    Location:126422
    Zip; ZIP Zinc transporter
  2. XM_005263177.2XP_005263234.1  metal cation symporter ZIP8 isoform X1

    See identical proteins and their annotated locations for XP_005263234.1

    UniProtKB/Swiss-Prot
    Q9C0K1
    UniProtKB/TrEMBL
    A0A024RDG0
    Conserved Domains (1) summary
    pfam02535
    Location:126451
    Zip; ZIP Zinc transporter
  3. XM_017008541.1XP_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_024454183.1XP_024309951.1  metal cation symporter ZIP8 isoform X3

    Conserved Domains (1) summary
    cl00437
    Location:126281
    Zip; ZIP Zinc transporter
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