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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
  • ZNT6 3 4
  • Zinc Transporter 6 3
  • 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 X-Linked Hereditary Ataxia and Fragile X-Associated Tremor/Ataxia Syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Metal ion SLC transporters. 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 for SLC30A6 Gene

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

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC30A6 Gene

Genomics for SLC30A6 Gene

Regulatory Elements for SLC30A6 Gene

Enhancers for SLC30A6 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
GH02G032135 1 Ensembl ENCODE 19 -30.0 -29988 1.7 CTCF ZNF146 FOXA2 JUN RAD21 FOSL1 POLR3A EED SMC3 FOSL2 SLC30A6 RNU6-647P DPY30 MEMO1 GC02M032061 GC02P032156
GH02G031837 0.9 Ensembl 15.6 -328.3 -328341 0.2 HDAC1 ELF3 FOXA2 ARNT ZBTB40 RAD21 TCF12 ZNF366 ZBTB2 CEBPB SLC30A6 LINC01946 AK2P2 ENSG00000273165
GH02G032164 1.2 ENCODE 10.7 +0.5 467 3.7 MLX CREB3L1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC MEF2D BIRC6 DDX50P1 TTC27 SLC30A6 RNU6-647P ENSG00000272716 NLRC4
GH02G032277 1.1 ENCODE 10.5 +112.2 112208 2.0 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B RNU6-647P SLC30A6 SPAST TTC27 NLRC4 YIPF4 ENSG00000272754
GH02G032261 1.2 Ensembl ENCODE 9.4 +98.1 98065 4.6 FOXA2 ATF1 ARID4B ZNF48 ZNF548 FOS MIER2 PPARG KAT8 SREBF1 BIRC6 DDX50P1 TTC27 SLC30A6 NLRC4 GC02M032177
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC30A6 on UCSC Golden Path with GeneCards custom track

Promoters for SLC30A6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000114965 -41 2001 MLX CREB3L1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21

Genomic Location for SLC30A6 Gene

Chromosome:
2
Start:
32,165,841 bp from pter
End:
32,224,379 bp from pter
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

Protein Domains for SLC30A6 Gene

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.

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

Phenotypes for SLC30A6 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA 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
mitochondrion 1
peroxisome 1

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 17349999
GO:0016020 membrane IBA,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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006812 cation transport IEA --
GO:0006829 zinc II ion transport IEA --
GO:0010043 response to zinc ion IBA --
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

Unigene Clusters for SLC30A6 Gene

Solute carrier family 30 (zinc transporter), member 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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, PaxDb, 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

Primer Products

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 34 35
  • 99.49 (n)
cow
(Bos Taurus)
Mammalia SLC30A6 34 35
  • 93.42 (n)
dog
(Canis familiaris)
Mammalia SLC30A6 34 35
  • 93.13 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC30A6 35
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc30a6 34
  • 87.03 (n)
mouse
(Mus musculus)
Mammalia Slc30a6 34 16 35
  • 86.3 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC30A6 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC30A6 34 35
  • 80.29 (n)
lizard
(Anolis carolinensis)
Reptilia SLC30A6 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc30a6 34
  • 76.47 (n)
Str.5891 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.4176 34
zebrafish
(Danio rerio)
Actinopterygii slc30a6 35
  • 18 (a)
OneToOne
Dr.28601 34
worm
(Caenorhabditis elegans)
Secernentea toc-1 35
  • 30 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSC2 35
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5211 35
  • 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)

Paralogs for SLC30A6 Gene

Paralogs for SLC30A6 Gene

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

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 Sequence Context AA Info Type
rs1000036373 -- 32,198,939(+) GAACC(C/T)TTTTC intron-variant, utr-variant-3-prime
rs1000137619 -- 32,194,699(+) ATAGT(C/G)AAGAG intron-variant
rs1000190239 -- 32,176,621(+) GCACT(A/G)CACTC intron-variant
rs1000203304 -- 32,194,151(+) AACAA(A/C)ATCTC intron-variant
rs1000221260 -- 32,176,328(+) GCTGA(C/G)TGTAT intron-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)

Relevant External Links 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

(3) MalaCards diseases for SLC30A6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
x-linked hereditary ataxia
fragile x-associated tremor/ataxia syndrome
  • fragile x tremor/ataxia syndrome
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC30A6

Genetic Association Database (GAD)
SLC30A6
Human Genome Epidemiology (HuGE) Navigator
SLC30A6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC30A6
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 S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  2. Polymorphisms in mitochondrial genes and prostate cancer risk. (PMID: 19064571) Wang L. … Thibodeau S.N. (Cancer Epidemiol. Biomarkers Prev. 2008) 3 46 64
  3. Altered expression of zinc transporters-4 and -6 in mild cognitive impairment, early and late Alzheimer's disease brain. (PMID: 16580781) Smith J.L. … Lovell M.A. (Neuroscience 2006) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  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 64

Products for SLC30A6 Gene

Sources for SLC30A6 Gene

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