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Aliases for SLC39A8 Gene

Aliases for SLC39A8 Gene

  • Solute Carrier Family 39 Member 8 2 3 4 5
  • BCG-Induced Integral Membrane Protein In Monocyte Clone 103 Protein 3 4
  • Solute Carrier Family 39 (Metal Ion Transporter), Member 8 2 3
  • LIV-1 Subfamily Of ZIP Zinc Transporter 6 3 4
  • Zrt- And Irt-Like Protein 8 3 4
  • BIGM103 3 4
  • LZT-Hs6 3 4
  • ZIP-8 3 4
  • ZIP8 3 4
  • Solute Carrier Family 39 (Zinc Transporter), Member 8 2
  • BCG Induced Integral Membrane Protein BIGM103 3
  • Zinc Transporter ZIP8 3
  • PP3105 3
  • CDG2N 3

External Ids for SLC39A8 Gene

Previous GeneCards Identifiers for SLC39A8 Gene

  • GC00U913002
  • GC04M103641
  • GC04M103539
  • GC04M103401
  • GC04M103172
  • GC04M098909

Summaries for SLC39A8 Gene

Entrez Gene Summary for SLC39A8 Gene

  • 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]

GeneCards Summary for SLC39A8 Gene

SLC39A8 (Solute Carrier Family 39 Member 8) is a Protein Coding gene. Diseases associated with SLC39A8 include Slc39a8-Cdg. Among its related pathways are Metal ion SLC transporters and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include metal ion transmembrane transporter activity. An important paralog of this gene is SLC39A14.

UniProtKB/Swiss-Prot for SLC39A8 Gene

  • Acts as a manganese and zinc influx transporter (PubMed:12504855, PubMed:26637978). Plays a role in manganese reabsorption in the proximal tubule of the kidney and in manganese uptake into the brain (PubMed:26637978).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC39A8 Gene

Genomics for SLC39A8 Gene

Regulatory Elements for SLC39A8 Gene

Enhancers for SLC39A8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F102402 1.3 FANTOM5 Ensembl 31.4 +28.0 27958 1.0 SLC39A8 NFKB1 UBE2D3 MANBA RN7SL728P
GH04F102411 0.4 FANTOM5 25 +19.7 19714 0.6 GATA3 CEBPB STAT3 ZBTB40 EP300 SLC39A8 NFKB1 SLC9B1 UBE2D3 MANBA RN7SL728P
GH04F102683 1.4 FANTOM5 Ensembl ENCODE 24.8 -253.4 -253389 2.2 PKNOX1 CBX3 ATF1 TAL1 JUN FOXK2 NCOR1 FOS TRIM24 CREM NFKB1 MANBA SLC39A8 UBE2D3 BDH2 SLC9B1 GC04P102663 GC04M102729
GH04F102686 1.4 FANTOM5 Ensembl ENCODE 23.9 -256.7 -256673 1.9 HDGF MXI1 JUN ASH2L YBX1 ZBTB40 ZKSCAN1 RELA CBX5 EED NFKB1 MANBA SLC39A8 UBE2D3 SLC9B1 GC04P102663 GC04M102729
GH04F102437 1.3 FANTOM5 Ensembl ENCODE 21.4 -8.0 -7956 2.5 TBP SIN3A RFX5 YY1 CBX5 ZNF366 FOS ZNF362 CEBPZ USF2 NFKB1 SLC39A8 SLC9B1 ENSG00000260651 UBE2D3 MANBA ENSG00000248161
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SLC39A8 on UCSC Golden Path with GeneCards custom track

Promoters for SLC39A8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001861860 358 1801 PKNOX1 CBX3 ZBTB40 RAD21 RFX5 YY1 GATA2 ZNF143 ZNF362 ZNF654

Genomic Location for SLC39A8 Gene

Chromosome:
4
Start:
102,251,041 bp from pter
End:
102,431,258 bp from pter
Size:
180,218 bases
Orientation:
Minus strand

Genomic View for SLC39A8 Gene

Genes around SLC39A8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC39A8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC39A8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC39A8 Gene

Proteins for SLC39A8 Gene

  • Protein details for SLC39A8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C0K1-S39A8_HUMAN
    Recommended name:
    Zinc transporter ZIP8
    Protein Accession:
    Q9C0K1
    Secondary Accessions:
    • B4E2H3
    • Q96SM9
    • Q9BVC0
    • Q9NSA4

    Protein attributes for SLC39A8 Gene

    Size:
    460 amino acids
    Molecular mass:
    49631 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC39A8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC39A8 Gene

Post-translational modifications for SLC39A8 Gene

  • Glycosylation at Asn 273
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC39A8 Gene

Domains & Families for SLC39A8 Gene

Gene Families for SLC39A8 Gene

Protein Domains for SLC39A8 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9C0K1

UniProtKB/Swiss-Prot:

S39A8_HUMAN :
  • Belongs to the ZIP transporter (TC 2.A.5) family.
Family:
  • Belongs to the ZIP transporter (TC 2.A.5) family.
genes like me logo Genes that share domains with SLC39A8: view

Function for SLC39A8 Gene

Molecular function for SLC39A8 Gene

UniProtKB/Swiss-Prot Function:
Acts as a manganese and zinc influx transporter (PubMed:12504855, PubMed:26637978). Plays a role in manganese reabsorption in the proximal tubule of the kidney and in manganese uptake into the brain (PubMed:26637978).
UniProtKB/Swiss-Prot Induction:
By live and heat-killed Mycobacterium bovis bacterial cell wall and inflammatory cytokines like TNF. Down-regulated following phorbol ester treatment.

Gene Ontology (GO) - Molecular Function for SLC39A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005385 zinc ion transmembrane transporter activity TAS --
GO:0046873 metal ion transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC39A8: view
genes like me logo Genes that share phenotypes with SLC39A8: view

Animal Models for SLC39A8 Gene

MGI Knock Outs for SLC39A8:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC39A8

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC39A8 Gene

Localization for SLC39A8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC39A8 Gene

Membrane; Multi-pass membrane protein. Note=Associated with the lysosomal/endosomal compartment following transfection. {ECO:0000269 PubMed:12504855}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC39A8 Gene COMPARTMENTS Subcellular localization image for SLC39A8 gene
Compartment Confidence
plasma membrane 5
cytosol 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SLC39A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031090 organelle membrane IDA 12504855
genes like me logo Genes that share ontologies with SLC39A8: view

Pathways & Interactions for SLC39A8 Gene

genes like me logo Genes that share pathways with SLC39A8: view

Interacting Proteins for SLC39A8 Gene

Gene Ontology (GO) - Biological Process for SLC39A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006829 zinc II ion transport IMP 12504855
GO:0006882 cellular zinc ion homeostasis IBA --
GO:0030001 metal ion transport IEA --
genes like me logo Genes that share ontologies with SLC39A8: view

No data available for SIGNOR curated interactions for SLC39A8 Gene

Transcripts for SLC39A8 Gene

Unigene Clusters for SLC39A8 Gene

Solute carrier family 39 (zinc transporter), member 8:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC39A8 Gene

No ASD Table

Relevant External Links for SLC39A8 Gene

GeneLoc Exon Structure for
SLC39A8
ECgene alternative splicing isoforms for
SLC39A8

Expression for SLC39A8 Gene

mRNA expression in normal human tissues for SLC39A8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC39A8 Gene

This gene is overexpressed in Lung (x8.4).

Protein differential expression in normal tissues from HIPED for SLC39A8 Gene

This gene is overexpressed in Placenta (27.6), Milk (21.7), and Bone (19.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC39A8 Gene



Protein tissue co-expression partners for SLC39A8 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC39A8 Gene:

SLC39A8

SOURCE GeneReport for Unigene cluster for SLC39A8 Gene:

Hs.288034

mRNA Expression by UniProt/SwissProt for SLC39A8 Gene:

Q9C0K1-S39A8_HUMAN
Tissue specificity: Expressed in thymus, placenta, lung, liver, pancreas and, to a lower extent, in spleen, testis, ovary, small intestine, colon, leukocyte, heart. Highest expression is observed in pancreas.
genes like me logo Genes that share expression patterns with SLC39A8: view

Primer Products

Orthologs for SLC39A8 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC39A8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC39A8 34 35
  • 99.71 (n)
dog
(Canis familiaris)
Mammalia SLC39A8 34 35
  • 91.09 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 91 (a)
OneToMany
-- 35
  • 57 (a)
OneToMany
cow
(Bos Taurus)
Mammalia SLC39A8 34 35
  • 90.58 (n)
mouse
(Mus musculus)
Mammalia Slc39a8 34 16 35
  • 84.42 (n)
rat
(Rattus norvegicus)
Mammalia Slc39a8 34
  • 84.2 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC39A8 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC39A8 34 35
  • 72.25 (n)
lizard
(Anolis carolinensis)
Reptilia SLC39A8 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc39a8 34
  • 65.04 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100002893 34
  • 58.04 (n)
SLC39A8 (1 of 2) 35
  • 54 (a)
OneToMany
SLC39A8 (2 of 2) 35
  • 44 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y55F3BL.2 35
  • 31 (a)
ManyToMany
tag-140 35
  • 18 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YKE4 35
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 38 (a)
OneToMany
Species where no ortholog for SLC39A8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC39A8 Gene

ENSEMBL:
Gene Tree for SLC39A8 (if available)
TreeFam:
Gene Tree for SLC39A8 (if available)

Paralogs for SLC39A8 Gene

(3) SIMAP similar genes for SLC39A8 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SLC39A8: view

Variants for SLC39A8 Gene

Sequence variations from dbSNP and Humsavar for SLC39A8 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs373562040 Congenital disorder of glycosylation 2N (CDG2N) [MIM:616721], Pathogenic 102,344,566(+) CAGCA(C/T)ATCCT reference, missense, utr-variant-5-prime
rs778210210 Congenital disorder of glycosylation 2N (CDG2N) [MIM:616721], Pathogenic 102,344,551(+) CGCGC(C/G)GAACA reference, missense, utr-variant-5-prime
rs779241085 Congenital disorder of glycosylation 2N (CDG2N) [MIM:616721], Pathogenic 102,305,054(+) TCCAC(A/C)AAACA reference, missense, utr-variant-5-prime
rs864309659 Congenital disorder of glycosylation 2N (CDG2N) [MIM:616721], Pathogenic 102,267,901(-) AGCAA(A/T)CCTAT reference, missense
rs864309660 Congenital disorder of glycosylation 2N (CDG2N) [MIM:616721], Pathogenic 102,267,916(-) ACTCA(C/G)TACTT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SLC39A8 Gene

Variant ID Type Subtype PubMed ID
dgv5346n100 CNV gain 25217958
dgv5347n100 CNV gain 25217958
dgv5348n100 CNV gain 25217958
esv1667320 CNV deletion 17803354
esv2657632 CNV deletion 23128226
esv2672212 CNV deletion 23128226
esv3601615 CNV loss 21293372
nsv1073362 CNV deletion 25765185
nsv1149401 CNV deletion 26484159
nsv428447 CNV gain 18775914
nsv998689 CNV gain+loss 25217958

Variation tolerance for SLC39A8 Gene

Residual Variation Intolerance Score: 28% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.80; 58.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC39A8 Gene

Human Gene Mutation Database (HGMD)
SLC39A8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC39A8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC39A8 Gene

Disorders for SLC39A8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC39A8 Gene - From: ClinVar and Swiss-Prot

Disorder Aliases PubMed IDs
slc39a8-cdg
  • cdg syndrome type 2n
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S39A8_HUMAN
  • Congenital disorder of glycosylation 2N (CDG2N) [MIM:616721]: A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269 PubMed:26637978, ECO:0000269 PubMed:26637979}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC39A8

Genetic Association Database (GAD)
SLC39A8
Human Genome Epidemiology (HuGE) Navigator
SLC39A8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC39A8
genes like me logo Genes that share disorders with SLC39A8: view

No data available for Genatlas for SLC39A8 Gene

Publications for SLC39A8 Gene

  1. Mycobacterium bovis BCG cell wall and lipopolysaccharide induce a novel gene, BIGM103, encoding a 7-TM protein: identification of a new protein family having Zn-transporter and Zn-metalloprotease signatures. (PMID: 12504855) Begum N.A. … Seya T. (Genomics 2002) 2 3 4 64
  2. Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8. (PMID: 26637978) Boycott K.M. … Abou Jamra R. (Am. J. Hum. Genet. 2015) 3 4 64
  3. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. (PMID: 21909110) Wain L.V. … van Duijn C.M. (Nat. Genet. 2011) 3 46 64
  4. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. (PMID: 21909115) . … Johnson T. (Nature 2011) 3 46 64
  5. Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich T.M. … Kathiresan S. (Nature 2010) 3 46 64

Products for SLC39A8 Gene

Sources for SLC39A8 Gene

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