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Aliases for SLC39A14 Gene

Aliases for SLC39A14 Gene

  • Solute Carrier Family 39 Member 14 2 3 4 5
  • Solute Carrier Family 39 (Metal Ion Transporter), Member 14 2 3
  • Solute Carrier Family 39 (Zinc Transporter), Member 14 2 3
  • LIV-1 Subfamily Of ZIP Zinc Transporter 4 3 4
  • Zrt- And Irt-Like Protein 14 3 4
  • LZT-Hs4 3 4
  • ZIP14 3 4
  • Zrt-, Irt-Like Protein 14 3
  • Zinc Transporter ZIP14 3
  • KIAA0062 4
  • HMNDYT2 3
  • ZIP-14 4
  • NET34 3
  • Cig19 3

External Ids for SLC39A14 Gene

Previous GeneCards Identifiers for SLC39A14 Gene

  • GC08P022246
  • GC08P020766
  • GC08P022224

Summaries for SLC39A14 Gene

Entrez Gene Summary for SLC39A14 Gene

  • This gene encodes a member of the the SLC39A family of divalent metal transporters that mediates the cellular uptake of manganese, zinc, iron, and cadmium. The encoded protein contains eight transmembrane domains, a histidine rich motif, and a metalloprotease motif, and is expressed on the plasma membrane and the endocytic vesicle membrane. It is an important transporter of nontransferrin-bound iron and a critical regulator of manganese homeostasis. Naturally occurring mutations in this gene are associated with neurodegeneration with brain iron accumulation and early-onset parkinsonism-dystonia with hypermanganesemia. [provided by RefSeq, May 2017]

GeneCards Summary for SLC39A14 Gene

SLC39A14 (Solute Carrier Family 39 Member 14) is a Protein Coding gene. Diseases associated with SLC39A14 include Hypermanganesemia With Dystonia 2 and Dystonia 2. 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 ferrous iron transmembrane transporter activity and zinc ion transmembrane transporter activity. An important paralog of this gene is SLC39A8.

UniProtKB/Swiss-Prot for SLC39A14 Gene

  • Broad-scope metal ion transporter with a preference for zinc uptake. Also mediates cellular uptake of nontransferrin-bound iron.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC39A14 Gene

Genomics for SLC39A14 Gene

Regulatory Elements for SLC39A14 Gene

Enhancers for SLC39A14 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
GH08G022363 2 FANTOM5 Ensembl ENCODE dbSUPER 11.7 +0.4 394 8.3 HDGF HNRNPUL1 FOXA2 PKNOX1 MLX CREB3L1 ARNT ZFP64 SIN3A ARID4B PIWIL2 PPP3CC SLC39A14 PDLIM2 ENSG00000248235 RNU6-336P ENSG00000253616 BTF3P3 POLR3D DMTN
GH08G022286 1.2 Ensembl ENCODE 11.2 -79.8 -79810 1.3 PKNOX1 FOXA2 ATF1 ARID4B DMAP1 ZNF2 ZNF48 YY1 ZNF121 SLC30A9 PIWIL2 MIR320A POLR3D PHYHIP SLC39A14 SORBS3 ENSG00000251034
GH08G022400 1.1 ENCODE dbSUPER 11.7 +33.8 33766 1.8 PKNOX1 FEZF1 RAD21 ZSCAN5C KLF7 PAF1 ZEB2 REST ZNF843 PRDM6 PPP3CC SLC39A14 RNU6-336P PDLIM2 ENSG00000248235 RPL21P77 GC08M022420
GH08G022312 0.8 ENCODE 15.3 -53.2 -53184 3.7 HDAC1 ATF1 FOXA2 KLF17 TCF12 ZNF121 SCRT2 EGR2 CEBPB USF2 PIWIL2 SLC39A14 LOC100507071 POLR3D MIR320A PHYHIP PPP3CC RNU6-336P
GH08G022415 0.7 dbSUPER 16.1 +48.7 48720 1.2 ELF3 ZNF792 YY1 RERE CREM THAP11 MIXL1 PAF1 ZNF3 KAT8 SLC39A14 PPP3CC PDLIM2 ENSG00000248235 SORBS3 ENSG00000251034 C8orf58 CCAR2 GC08M022420 RPL21P77
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC39A14 on UCSC Golden Path with GeneCards custom track

Promoters for SLC39A14 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000222046 551 2001 HDGF MLX CREB3L1 ARNT ZFP64 SIN3A ARID4B DMAP1 ZNF2 ZNF143

Genomic Location for SLC39A14 Gene

Chromosome:
8
Start:
22,367,249 bp from pter
End:
22,434,129 bp from pter
Size:
66,881 bases
Orientation:
Plus strand

Genomic View for SLC39A14 Gene

Genes around SLC39A14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC39A14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC39A14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC39A14 Gene

Proteins for SLC39A14 Gene

  • Protein details for SLC39A14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15043-S39AE_HUMAN
    Recommended name:
    Zinc transporter ZIP14
    Protein Accession:
    Q15043
    Secondary Accessions:
    • A6NH98
    • B4DIW3
    • B6EU88
    • D3DSR4
    • Q6ZME8
    • Q96BB3

    Protein attributes for SLC39A14 Gene

    Size:
    492 amino acids
    Molecular mass:
    54212 Da
    Quaternary structure:
    • Homotrimer.
    SequenceCaution:
    • Sequence=BAA06685.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC39A14 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC39A14 Gene

Post-translational modifications for SLC39A14 Gene

  • Glycosylation at isoforms=2, 377 and isoforms=2, 3102
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC39A14 Gene

Domains & Families for SLC39A14 Gene

Gene Families for SLC39A14 Gene

Protein Domains for SLC39A14 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC39A14 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15043

UniProtKB/Swiss-Prot:

S39AE_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 SLC39A14: view

Function for SLC39A14 Gene

Molecular function for SLC39A14 Gene

UniProtKB/Swiss-Prot Function:
Broad-scope metal ion transporter with a preference for zinc uptake. Also mediates cellular uptake of nontransferrin-bound iron.

Gene Ontology (GO) - Molecular Function for SLC39A14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005385 zinc ion transmembrane transporter activity TAS --
GO:0015093 ferrous iron transmembrane transporter activity IEA --
GO:0046873 metal ion transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC39A14: view
genes like me logo Genes that share phenotypes with SLC39A14: view

Animal Models for SLC39A14 Gene

MGI Knock Outs for SLC39A14:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC39A14

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC39A14 Gene

Localization for SLC39A14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC39A14 Gene

Cell membrane; Multi-pass membrane protein. Cytoplasm. Cell projection, lamellipodium. Note=Localized to the plasma membrane and also found colocalized with F-actin concentrated on lamellipodiae. {ECO:0000269 PubMed:12659941, ECO:0000269 PubMed:15642354, ECO:0000269 PubMed:27231142}.

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 SLC39A14 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 2
lysosome 2
golgi apparatus 2
cytosol 1
endosome 1

Gene Ontology (GO) - Cellular Components for SLC39A14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 27231142
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 15642354
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IDA,IEA 21917916
genes like me logo Genes that share ontologies with SLC39A14: view

Pathways & Interactions for SLC39A14 Gene

genes like me logo Genes that share pathways with SLC39A14: view

Interacting Proteins for SLC39A14 Gene

Gene Ontology (GO) - Biological Process for SLC39A14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006826 iron ion transport IEA --
GO:0006829 zinc II ion transport IEA --
GO:0006882 cellular zinc ion homeostasis IDA 15642354
genes like me logo Genes that share ontologies with SLC39A14: view

No data available for SIGNOR curated interactions for SLC39A14 Gene

Drugs & Compounds for SLC39A14 Gene

(1) Drugs for SLC39A14 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nortriptyline Approved Pharma Antagonist, Pore Blocker 50

(1) Additional Compounds for SLC39A14 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
genes like me logo Genes that share compounds with SLC39A14: view

Transcripts for SLC39A14 Gene

Unigene Clusters for SLC39A14 Gene

Solute carrier family 39 (zinc transporter), member 14:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC39A14 Gene

No ASD Table

Relevant External Links for SLC39A14 Gene

GeneLoc Exon Structure for
SLC39A14
ECgene alternative splicing isoforms for
SLC39A14

Expression for SLC39A14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC39A14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC39A14 Gene

This gene is overexpressed in Liver (x13.0) and Pancreas (x5.4).

Protein differential expression in normal tissues from HIPED for SLC39A14 Gene

This gene is overexpressed in Liver (17.6), Bone (17.6), and Fetal Liver (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC39A14 Gene



NURSA nuclear receptor signaling pathways regulating expression of SLC39A14 Gene:

SLC39A14

SOURCE GeneReport for Unigene cluster for SLC39A14 Gene:

Hs.491232

mRNA Expression by UniProt/SwissProt for SLC39A14 Gene:

Q15043-S39AE_HUMAN
Tissue specificity: Expressed in liver and in brain by large neurons in the globus pallidus, the insular cortex and the dentate nucleus and to a lower extent in the putamen and the caudate nucleus (at protein level) (PubMed:27231142). Isoform 1 is ubiquitously expressed, with increased expression in liver, pancreas, fetal liver, thyroid gland, left and right ventricle, right atrium and fetal heart. Weakly expressed in spleen, thymus, and peripheral blood leukocytes (PubMed:15642354, PubMed:7584044, PubMed:27231142). Isoform 3 is widely expressed but not detected in brain, heart, skeletal muscle and fetal skin (PubMed:27231142).

Evidence on tissue expression from TISSUES for SLC39A14 Gene

  • Liver(4.7)
  • Nervous system(4.7)
  • Intestine(4.5)
  • Bone marrow(4.2)
  • Pancreas(2.4)
  • Kidney(2)
genes like me logo Genes that share expression patterns with SLC39A14: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC39A14 Gene

Orthologs for SLC39A14 Gene

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

Orthologs for SLC39A14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC39A14 34 35
  • 99.11 (n)
dog
(Canis familiaris)
Mammalia SLC39A14 34 35
  • 89.89 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC39A14 35
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 88 (a)
OneToMany
-- 35
  • 80 (a)
OneToMany
cow
(Bos Taurus)
Mammalia SLC39A14 34 35
  • 86.48 (n)
mouse
(Mus musculus)
Mammalia Slc39a14 34 16 35
  • 84.98 (n)
rat
(Rattus norvegicus)
Mammalia Slc39a14 34
  • 80.99 (n)
chicken
(Gallus gallus)
Aves SLC39A14 34 35
  • 78.96 (n)
lizard
(Anolis carolinensis)
Reptilia SLC39A14 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc39a14 34
  • 70.33 (n)
zebrafish
(Danio rerio)
Actinopterygii SLC39A14 35
  • 67 (a)
OneToOne
LOC799782 34
  • 63.93 (n)
worm
(Caenorhabditis elegans)
Secernentea Y55F3BL.2 34 35
  • 49.33 (n)
tag-140 35
  • 19 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YKE4 35
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToMany
Species where no ortholog for SLC39A14 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 SLC39A14 Gene

ENSEMBL:
Gene Tree for SLC39A14 (if available)
TreeFam:
Gene Tree for SLC39A14 (if available)

Paralogs for SLC39A14 Gene

(3) SIMAP similar genes for SLC39A14 Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for SLC39A14 Gene

genes like me logo Genes that share paralogs with SLC39A14: view

Variants for SLC39A14 Gene

Sequence variations from dbSNP and Humsavar for SLC39A14 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
VAR_077004 Hypermanganesemia with dystonia 2 (HMNDYT2) [MIM:617013]
VAR_077005 Hypermanganesemia with dystonia 2 (HMNDYT2) [MIM:617013]
VAR_077006 Hypermanganesemia with dystonia 2 (HMNDYT2) [MIM:617013]
rs750281602 Pathogenic 22,419,626(+) CAGAA(C/G/T)CTGGG intron-variant, reference, synonymous-codon
rs879253763 Pathogenic 22,408,331(+) ACCTC(G/T)TCACT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SLC39A14 Gene

Variant ID Type Subtype PubMed ID
dgv451n21 CNV loss 19592680
esv1010019 CNV deletion 20482838
esv2736746 CNV deletion 23290073
esv2736747 CNV deletion 23290073
esv2759604 CNV loss 17122850
esv2764071 CNV gain 21179565
esv3616608 CNV loss 21293372
esv3616609 CNV loss 21293372
nsv1136003 CNV deletion 24896259
nsv398059 CNV deletion 16902084
nsv518646 CNV gain 19592680
nsv6116 CNV insertion 18451855
nsv831266 CNV loss 17160897
nsv8321 CNV gain 18304495
nsv958504 CNV deletion 24416366
nsv971630 CNV duplication 23825009

Variation tolerance for SLC39A14 Gene

Residual Variation Intolerance Score: 46% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.08; 92.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC39A14 Gene

Human Gene Mutation Database (HGMD)
SLC39A14
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC39A14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC39A14 Gene

Disorders for SLC39A14 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SLC39A14 Gene - From: ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypermanganesemia with dystonia 2
  • hmndyt2
dystonia 2
  • dystonia 2, torsion, autosomal recessive
dystonia
  • dystonic disease
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S39AE_HUMAN
  • Hypermanganesemia with dystonia 2 (HMNDYT2) [MIM:617013]: A metabolic autosomal recessive disorder characterized by increased blood manganese levels, neurodegeneration, and rapidly progressive parkinsonism and dystonia. Affected individuals present with loss of developmental milestones, progressive dystonia and bulbar dysfunction in infancy or early childhood. Towards the end of the first decade, they manifest severe generalized pharmacoresistant dystonia, spasticity, limb contractures and scoliosis, and loss of independent ambulation. Cognition may be impaired, but is better preserved than motor function. {ECO:0000269 PubMed:27231142}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC39A14

Genetic Association Database (GAD)
SLC39A14
Human Genome Epidemiology (HuGE) Navigator
SLC39A14
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC39A14
genes like me logo Genes that share disorders with SLC39A14: view

No data available for Genatlas for SLC39A14 Gene

Publications for SLC39A14 Gene

  1. Structure-function analysis of a novel member of the LIV-1 subfamily of zinc transporters, ZIP14. (PMID: 15642354) Taylor K.M. … Nicholson R.I. (FEBS Lett. 2005) 3 4 22 64
  2. The LZT proteins; the LIV-1 subfamily of zinc transporters. (PMID: 12659941) Taylor K.M. … Nicholson R.I. (Biochim. Biophys. Acta 2003) 2 3 4 64
  3. Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. (PMID: 27231142) Tuschl K. … Wilson S.W. (Nat Commun 2016) 3 4 64
  4. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PMID: 20587610) Ucisik-Akkaya E. … Dorak M.T. (Mol. Hum. Reprod. 2010) 3 46 64
  5. The hereditary hemochromatosis protein, HFE, inhibits iron uptake via down-regulation of Zip14 in HepG2 cells. (PMID: 18524764) Gao J. … Enns C.A. (J. Biol. Chem. 2008) 3 22 64

Products for SLC39A14 Gene

Sources for SLC39A14 Gene

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