This gene encodes a member of a family of proteins that function as zinc transporters. This protein can regulate subcellular levels of zinc in the Golgi and vesicles. Expression of this gene is altered in the Alzheimer's disease brain plaques. [provided by RefSeq, Aug 2016] See more...

Aliases for SLC30A6 Gene

Aliases for SLC30A6 Gene

  • Solute Carrier Family 30 Member 6 2 3 4 5
  • Solute Carrier Family 30 (Zinc Transporter), Member 6 2 3
  • Zinc Transporter 6 3 4
  • ZNT6 3 4
  • MSTP103 3
  • MST103 3
  • ZnT-6 4

External Ids for SLC30A6 Gene

Previous GeneCards Identifiers for SLC30A6 Gene

  • GC02P032518
  • GC02P032348
  • GC02P032365
  • GC02P032302
  • GC02P032244
  • GC02P032390
  • GC02P032130

Summaries for SLC30A6 Gene

Entrez Gene Summary for SLC30A6 Gene

  • This gene encodes a member of a family of proteins that function as zinc transporters. This protein can regulate subcellular levels of zinc in the Golgi and vesicles. Expression of this gene is altered in the Alzheimer's disease brain plaques. [provided by RefSeq, Aug 2016]

GeneCards Summary for SLC30A6 Gene

SLC30A6 (Solute Carrier Family 30 Member 6) is a Protein Coding gene. Diseases associated with SLC30A6 include Familial Cold Autoinflammatory Syndrome 4 and Autoinflammation With Infantile Enterocolitis. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Peptide hormone metabolism. Gene Ontology (GO) annotations related to this gene include cation transmembrane transporter activity and zinc ion transmembrane transporter activity. An important paralog of this gene is SLC30A5.

UniProtKB/Swiss-Prot Summary for SLC30A6 Gene

  • Zinc-efflux transporter which allocates the cytoplasmic zinc to the trans-Golgi network (TGN) as well as the vesicular compartment.

Additional gene information for SLC30A6 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC30A6 Gene

Genomics for SLC30A6 Gene

GeneHancer (GH) Regulatory Elements for SLC30A6 Gene

Promoters and enhancers for SLC30A6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC30A6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC30A6 gene promoter:
  • AML1a
  • ATF-2
  • c-Ets-1
  • FOXC1
  • FOXO3
  • FOXO3a
  • FOXO3b
  • NF-AT
  • NF-AT1
  • NF-AT2

Genomic Locations for SLC30A6 Gene

Genomic Locations for SLC30A6 Gene
chr2:32,165,841-32,224,379
(GRCh38/hg38)
Size:
58,539 bases
Orientation:
Plus strand
chr2:32,390,910-32,449,448
(GRCh37/hg19)
Size:
58,539 bases
Orientation:
Plus strand

Genomic View for SLC30A6 Gene

Genes around SLC30A6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC30A6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC30A6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC30A6 Gene

Proteins for SLC30A6 Gene

  • Protein details for SLC30A6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NXT4-ZNT6_HUMAN
    Recommended name:
    Zinc transporter 6
    Protein Accession:
    Q6NXT4
    Secondary Accessions:
    • A5YM45
    • B7Z901
    • Q8N5C9
    • Q96NC3

    Protein attributes for SLC30A6 Gene

    Size:
    461 amino acids
    Molecular mass:
    51116 Da
    Quaternary structure:
    • Heterooligomer. Interacts with ZNT5 (By similarity).
    Miscellaneous:
    • Seems to have lost most of the histidine residues in the loop between the fourth and fifth transmembrane regions and appears to exert transport function by forming complexes with ZNT5.
    SequenceCaution:
    • Sequence=AAH32525.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC30A6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC30A6 Gene

Post-translational modifications for SLC30A6 Gene

  • Ubiquitination at Lys268
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC30A6 Gene

Domains & Families for SLC30A6 Gene

Gene Families for SLC30A6 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC30A6 Gene

Suggested Antigen Peptide Sequences for SLC30A6 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ45816 fis, clone NT2RP7019682, highly similar to Homo sapiens solute carrier family 30 (zinc transporter), member 6 (SLC30A6), mRNA (B3KU87_HUMAN)
  • cDNA FLJ55532, highly similar to Homo sapiens solute carrier family 30 (zinc transporter), member 6 (SLC30A6), mRNA (B7Z901_HUMAN)
  • MSTP103 (Q7Z4D6_HUMAN)
  • Solute carrier family 30 member 6 (ZNT6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6NXT4

UniProtKB/Swiss-Prot:

ZNT6_HUMAN :
  • Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily.
Family:
  • Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily.
genes like me logo Genes that share domains with SLC30A6: view

Function for SLC30A6 Gene

Molecular function for SLC30A6 Gene

UniProtKB/Swiss-Prot Function:
Zinc-efflux transporter which allocates the cytoplasmic zinc to the trans-Golgi network (TGN) as well as the vesicular compartment.

Phenotypes From GWAS Catalog for SLC30A6 Gene

Gene Ontology (GO) - Molecular Function for SLC30A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005385 zinc ion transmembrane transporter activity TAS --
GO:0008324 cation transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC30A6: view
genes like me logo Genes that share phenotypes with SLC30A6: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC30A6 Gene

Localization for SLC30A6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC30A6 Gene

Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein. Note=Found in vesicles. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC30A6 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 3
endoplasmic reticulum 1
cytosol 1
mitochondrion 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC30A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IDA,IEA 17349999
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC30A6: view

Pathways & Interactions for SLC30A6 Gene

genes like me logo Genes that share pathways with SLC30A6: view

Pathways by source for SLC30A6 Gene

Gene Ontology (GO) - Biological Process for SLC30A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006812 cation transport IEA --
GO:0006829 zinc ion transport IEA --
GO:0055085 transmembrane transport IEA --
GO:0071577 zinc ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC30A6: view

No data available for SIGNOR curated interactions for SLC30A6 Gene

Drugs & Compounds for SLC30A6 Gene

No Compound Related Data Available

Transcripts for SLC30A6 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC30A6 Gene

No ASD Table

Relevant External Links for SLC30A6 Gene

GeneLoc Exon Structure for
SLC30A6
ECgene alternative splicing isoforms for
SLC30A6

Expression for SLC30A6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC30A6 Gene

Protein differential expression in normal tissues from HIPED for SLC30A6 Gene

This gene is overexpressed in Fetal Liver (45.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC30A6 Gene



Protein tissue co-expression partners for SLC30A6 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC30A6 Gene:

SLC30A6

SOURCE GeneReport for Unigene cluster for SLC30A6 Gene:

Hs.23248

mRNA Expression by UniProt/SwissProt for SLC30A6 Gene:

Q6NXT4-ZNT6_HUMAN
Tissue specificity: Expressed in brain; especially in cerebellum, hippocampus, parahippocampal gyrus, superior and middle temporal gyrus. Also expressed in B-cells, colon, eye, and lung. Lower expression was present in bone, brain, cervix, ear, heart, kidney, muscle, nerve, pancreas, prostate, skin, stomach, and testis.

Evidence on tissue expression from TISSUES for SLC30A6 Gene

  • Nervous system(4.8)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with SLC30A6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC30A6 Gene

Orthologs for SLC30A6 Gene

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

Orthologs for SLC30A6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC30A6 33 32
  • 99.49 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC30A6 33 32
  • 93.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC30A6 33 32
  • 93.13 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC30A6 33
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc30a6 32
  • 87.03 (n)
mouse
(Mus musculus)
Mammalia Slc30a6 17 33 32
  • 86.3 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC30A6 33
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC30A6 33 32
  • 80.29 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC30A6 33
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc30a6 32
  • 76.47 (n)
Str.5891 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.4176 32
zebrafish
(Danio rerio)
Actinopterygii slc30a6 33
  • 18 (a)
OneToOne
Dr.28601 32
worm
(Caenorhabditis elegans)
Secernentea toc-1 33
  • 30 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSC2 33
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5211 33
  • 34 (a)
OneToOne
Species where no ortholog for SLC30A6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 SLC30A6 Gene

ENSEMBL:
Gene Tree for SLC30A6 (if available)
TreeFam:
Gene Tree for SLC30A6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC30A6: view image

Paralogs for SLC30A6 Gene

(1) SIMAP similar genes for SLC30A6 Gene using alignment to 7 proteins:

  • ZNT6_HUMAN
  • B3KU87_HUMAN
  • B5MCR8_HUMAN
  • C9JZR9_HUMAN
  • F8WCU3_HUMAN
  • F8WD78_HUMAN
  • F8WEL5_HUMAN

Pseudogenes.org Pseudogenes for SLC30A6 Gene

genes like me logo Genes that share paralogs with SLC30A6: view

Variants for SLC30A6 Gene

Sequence variations from dbSNP and Humsavar for SLC30A6 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1438338245 uncertain-significance, Autoinflammation with infantile enterocolitis, Familial cold autoinflammatory syndrome 4 32,224,496(+) C/T downstream_transcript_variant
rs147896952 likely-benign, Autoinflammation with infantile enterocolitis, Familial cold autoinflammatory syndrome 4 32,224,603(+) G/A/C/T downstream_transcript_variant
rs150062306 uncertain-significance, Autoinflammation with infantile enterocolitis, Familial cold autoinflammatory syndrome 4 32,224,515(+) A/C downstream_transcript_variant
rs1558441930 uncertain-significance, Autoinflammation with infantile enterocolitis, Familial cold autoinflammatory syndrome 4 32,224,580(+) C/T downstream_transcript_variant
rs186759526 uncertain-significance, Autoinflammation with infantile enterocolitis, Familial cold autoinflammatory syndrome 4 32,224,705(+) C/T downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC30A6 Gene

Variant ID Type Subtype PubMed ID
esv2422335 CNV duplication 17116639
esv2719876 CNV deletion 23290073
esv2719877 CNV deletion 23290073
esv3590242 CNV gain 21293372
esv3590243 CNV gain 21293372
nsv2667 CNV deletion 18451855
nsv833670 CNV loss 17160897
nsv978991 CNV duplication 23825009

Variation tolerance for SLC30A6 Gene

Residual Variation Intolerance Score: 51.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.21; 24.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC30A6 Gene

Human Gene Mutation Database (HGMD)
SLC30A6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC30A6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC30A6 Gene

Disorders for SLC30A6 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SLC30A6 Gene - From: HGMD, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC30A6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC30A6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC30A6 Gene

Publications for SLC30A6 Gene

  1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56
  2. Polymorphisms in mitochondrial genes and prostate cancer risk. (PMID: 19064571) Wang L … Thibodeau SN (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 43 56
  3. Altered expression of zinc transporters-4 and -6 in mild cognitive impairment, early and late Alzheimer's disease brain. (PMID: 16580781) Smith JL … Lovell MA (Neuroscience 2006) 3 4 56
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  5. In silico identification and expression of SLC30 family genes: an expressed sequence tag data mining strategy for the characterization of zinc transporters' tissue expression. (PMID: 15154973) Seve M … Favier A (BMC genomics 2004) 3 4 56

Products for SLC30A6 Gene

Sources for SLC30A6 Gene