SLC39A14 Gene (Protein Coding)

Solute Carrier Family 39 Member 14

GC08P022367
GIFtS:
43
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 non... See more...

Aliases for SLC39A14 Gene

Aliases for SLC39A14 Gene

  • Solute Carrier Family 39 Member 14 2 3 4 5
  • ZIP14 2 3 4
  • 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
  • Metal Cation Symporter ZIP14 3 4
  • Zrt- And Irt-Like Protein 14 3 4
  • KIAA0062 2 4
  • LZT-Hs4 3 4
  • NET34 2 3
  • Zrt-, Irt-Like Protein 14 3
  • Zinc Transporter ZIP14 3
  • SLC39A14 5
  • HMNDYT2 3
  • ZIP-14 4
  • Cig19 3
  • HCIN 3

External Ids for SLC39A14 Gene

Previous GeneCards Identifiers for SLC39A14 Gene

  • GC08P022246
  • GC08P022280
  • 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 Hyperostosis Cranialis Interna. Among its related pathways are Metal ion SLC transporters and NRF2 pathway. Gene Ontology (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 Summary for SLC39A14 Gene

  • Electroneutral transporter of the plasma membrane mediating the cellular uptake of the divalent metal cations zinc, manganese and iron that are important for tissue homeostasis, metabolism, development and immunity (PubMed:15642354, PubMed:27231142, PubMed:29621230). Functions as an energy-dependent symporter, transporting through the membranes an electroneutral complex composed of a divalent metal cation and two bicarbonate anions (By similarity). Beside these endogenous cellular substrates, can also import cadmium a non-essential metal which is cytotoxic and carcinogenic (By similarity). Controls the cellular uptake by the intestinal epithelium of systemic zinc, which is in turn required to maintain tight junctions and the intestinal permeability (By similarity). Modifies the activity of zinc-dependent phosphodiesterases, thereby indirectly regulating G protein-coupled receptor signaling pathways important for gluconeogenesis and chondrocyte differentiation (By similarity). Regulates insulin receptor signaling, glucose uptake, glycogen synthesis and gluconeogenesis in hepatocytes through the zinc-dependent intracellular catabolism of insulin (PubMed:27703010). Through zinc cellular uptake also plays a role in the adaptation of cells to endoplasmic reticulum stress (By similarity). Major manganese transporter of the basolateral membrane of intestinal epithelial cells, it plays a central role in manganese systemic homeostasis through intestinal manganese uptake (PubMed:31028174). Also involved in manganese extracellular uptake by cells of the blood-brain barrier (PubMed:31699897). May also play a role in manganese and zinc homeostasis participating in their elimination from the blood through the hepatobiliary excretion (By similarity). Also functions in the extracellular uptake of free iron. May also function intracellularly and mediate the transport from endosomes to cytosol of iron endocytosed by transferrin (PubMed:20682781). Plays a role in innate immunity by regulating the expression of cytokines by activated macrophages (PubMed:23052185).

Additional gene information for SLC39A14 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC39A14 Gene

Genomics for SLC39A14 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SLC39A14 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 SLC39A14 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC39A14

Top Transcription factor binding sites by QIAGEN in the SLC39A14 gene promoter:
  • AML1a
  • Cdc5
  • FOXI1
  • HFH-3
  • HOXA5
  • Sox9

Genomic Locations for SLC39A14 Gene

Genomic Locations for SLC39A14 Gene
chr8:22,367,249-22,434,129
(GRCh38/hg38)
Size:
66,881 bases
Orientation:
Plus strand
chr8:22,224,762-22,291,642
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for SLC39A14 Gene

Proteins for SLC39A14 Gene

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

    Protein Symbol:
    Q15043-S39AE_HUMAN
    Recommended name:
    Metal cation symporter 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=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC39A14 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC39A14 Gene

Protein Expression for SLC39A14 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SLC39A14 Gene

  • Ubiquitinated. Ubiquitination occurs upon iron depletion. The ubiquitinated form undergoes proteasomal degradation.
  • N-glycosylated. N-glycosylation at Asn-102 is required for iron-regulated extraction of the transporter from membranes and subsequent proteasomal degradation.
  • Glycosylation at Asn77 and Asn102
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC39A14 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC39A14 Gene

Domains & Families for SLC39A14 Gene

Gene Families for SLC39A14 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SLC39A14 Gene

InterPro:
Blocks:
  • Zinc transporter ZIP
ProtoNet:

Suggested Antigen Peptide Sequences for SLC39A14 Gene

GenScript: Design optimal peptide antigens:
  • Zrt- and Irt-like protein 14 (S39AE_HUMAN)

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

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Molecular function for SLC39A14 Gene

UniProtKB/Swiss-Prot Function:
Electroneutral transporter of the plasma membrane mediating the cellular uptake of the divalent metal cations zinc, manganese and iron that are important for tissue homeostasis, metabolism, development and immunity (PubMed:15642354, PubMed:27231142, PubMed:29621230). Functions as an energy-dependent symporter, transporting through the membranes an electroneutral complex composed of a divalent metal cation and two bicarbonate anions (By similarity). Beside these endogenous cellular substrates, can also import cadmium a non-essential metal which is cytotoxic and carcinogenic (By similarity). Controls the cellular uptake by the intestinal epithelium of systemic zinc, which is in turn required to maintain tight junctions and the intestinal permeability (By similarity). Modifies the activity of zinc-dependent phosphodiesterases, thereby indirectly regulating G protein-coupled receptor signaling pathways important for gluconeogenesis and chondrocyte differentiation (By similarity). Regulates insulin receptor signaling, glucose uptake, glycogen synthesis and gluconeogenesis in hepatocytes through the zinc-dependent intracellular catabolism of insulin (PubMed:27703010). Through zinc cellular uptake also plays a role in the adaptation of cells to endoplasmic reticulum stress (By similarity). Major manganese transporter of the basolateral membrane of intestinal epithelial cells, it plays a central role in manganese systemic homeostasis through intestinal manganese uptake (PubMed:31028174). Also involved in manganese extracellular uptake by cells of the blood-brain barrier (PubMed:31699897). May also play a role in manganese and zinc homeostasis participating in their elimination from the blood through the hepatobiliary excretion (By similarity). Also functions in the extracellular uptake of free iron. May also function intracellularly and mediate the transport from endosomes to cytosol of iron endocytosed by transferrin (PubMed:20682781). Plays a role in innate immunity by regulating the expression of cytokines by activated macrophages (PubMed:23052185).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 hydrogencarbonate(out) + Zn(2+)(out) = 2 hydrogencarbonate(in) + Zn(2+)(in); Xref=Rhea:RHEA:62252, ChEBI:CHEBI:17544, ChEBI:CHEBI:29105; Evidence={ECO:0000305|PubMed:15642354};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 hydrogencarbonate(out) + Mn(2+)(out) = 2 hydrogencarbonate(in) + Mn(2+)(in); Xref=Rhea:RHEA:62260, ChEBI:CHEBI:17544, ChEBI:CHEBI:29035; Evidence={ECO:0000305|PubMed:31699897};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Fe(2+)(out) + 2 hydrogencarbonate(out) = Fe(2+)(in) + 2 hydrogencarbonate(in); Xref=Rhea:RHEA:62368, ChEBI:CHEBI:17544, ChEBI:CHEBI:29033; Evidence={ECO:0000250|UniProtKB:Q75N73};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Cd(2+)(out) + 2 hydrogencarbonate(out) = Cd(2+)(in) + 2 hydrogencarbonate(in); Xref=Rhea:RHEA:62256, ChEBI:CHEBI:17544, ChEBI:CHEBI:48775; Evidence={ECO:0000250|UniProtKB:Q75N73};.
UniProtKB/Swiss-Prot Induction:
Up-regulated by iron (at protein level) (PubMed:24927598). Down-regulation upon iron depletion occurs through proteasomal degradation of the intracellular pool (PubMed:24927598). Up-regulated by tunicamycin, a drug inducing endoplasmic reticulum stress (at protein level) (PubMed:28673968). Up-regulated by lipopolysaccharide/LPS (PubMed:23052185).

Phenotypes From GWAS Catalog for SLC39A14 Gene

Gene Ontology (GO) - Molecular Function for SLC39A14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005381 iron ion transmembrane transporter activity ISS --
GO:0005384 manganese ion transmembrane transporter activity IMP 31028174
GO:0005385 zinc ion transmembrane transporter activity IDA 15642354
GO:0015086 cadmium ion transmembrane transporter activity ISS --
GO:0015093 ferrous iron transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC39A14: view
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Human Phenotype Ontology for SLC39A14 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC39A14 Gene

MGI Knock Outs for SLC39A14:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC39A14

CRISPR Products

Inhibitory RNA Products

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Clone Products

No data available for Enzyme Numbers (IUBMB) , 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. Apical cell membrane. Multi-pass membrane protein. Basolateral cell membrane. Multi-pass membrane protein. Early endosome membrane. Multi-pass membrane protein. Late endosome membrane. Multi-pass membrane protein. Lysosome membrane. Multi-pass membrane protein. Note=Localized and functional at both apical and basolateral membranes of microvascular capillary endothelial cells that constitute the blood-brain barrier (PubMed:31699897). Localized at the basolateral membrane of enterocytes (PubMed:31028174). Enriched at the plasma membrane upon glucose uptake (PubMed:27703010). {ECO:0000269 PubMed:27703010, ECO:0000269 PubMed:31028174, ECO:0000269 PubMed:31699897}.

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
endosome 5
lysosome 5
endoplasmic reticulum 3
golgi apparatus 3
extracellular 2
mitochondrion 2
nucleus 2
cytosol 2
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
  • Golgi apparatus (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC39A14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA --
GO:0005765 lysosomal membrane IDA 20682781
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA,IDA 15642354
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

Gene Ontology (GO) - Biological Process for SLC39A14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002062 chondrocyte differentiation ISS --
GO:0006094 gluconeogenesis ISS --
GO:0006811 ion transport IEA --
GO:0006826 iron ion transport IEA --
GO:0006829 zinc ion transport IEA --
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

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(4) Drugs for SLC39A14 Gene - From: DrugBank, PharmGKB, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc chloride Approved, Investigational Pharma Transporter, substrate 0
Zinc sulfate, unspecified form Approved, Experimental Pharma Transporter, substrate 0
Nortriptyline Approved Pharma Pore Blocker, Antagonist 56
Iron Approved, Experimental Pharma 1560
genes like me logo Genes that share compounds with SLC39A14: view

Transcripts for SLC39A14 Gene

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mRNA/cDNA for SLC39A14 Gene

10 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC39A14

Clone 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

Expression for SLC39A14 Gene

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

mRNA expression in normal human tissues for SLC39A14 Gene
mRNA expression by GTEx for SLC39A14 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for SLC39A14 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC39A14

SOURCE GeneReport for Unigene cluster for SLC39A14 Gene:

Hs.491232

mRNA Expression by UniProt/SwissProt for SLC39A14 Gene:

Q15043-S39AE_HUMAN
Tissue specificity: Ubiquitously expressed, with higher expression in liver, pancreas, fetal liver, thyroid gland, left and right ventricle, right atrium and fetal heart (PubMed:7584044, PubMed:15642354, PubMed:20682781). Weakly expressed in spleen, thymus, and peripheral blood leukocytes (PubMed:7584044). 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). Expressed in osteoblasts and giant osteoclast-like cells, but not in osteocytes found osteoblastoma and giant cell tumors (at protein level) (PubMed:29621230). Expressed by microvascular capillary endothelial cells that constitute the blood-brain barrier (at protein level) (PubMed:31699897). Expressed by macrophages (PubMed:23052185).

Evidence on tissue expression from TISSUES for SLC39A14 Gene

  • Nervous system(4.8)
  • Liver(4.7)
  • Intestine(4.6)
  • Bone marrow(4.4)
  • Pancreas(3.1)
  • Heart(2.9)
  • Muscle(2.7)
  • Kidney(2.7)
  • Eye(2.5)
  • Thyroid gland(2.3)
  • Stomach(2.3)
  • Skin(2.2)
  • Spleen(2.2)
  • Blood(2.2)
  • Adrenal gland(2.1)
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 30 31
  • 99.11 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SLC39A14 30 31
  • 89.89 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia SLC39A14 31
  • 88 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 88 (a)
 OneToMany
-- 31
  • 80 (a)
 OneToMany
Cow
(Bos Taurus)
 Mammalia SLC39A14 30 31
  • 86.48 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Slc39a14 30 17 31
  • 84.98 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Slc39a14 30
  • 80.99 (n)
Chicken
(Gallus gallus)
 Aves SLC39A14 30 31
  • 78.96 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SLC39A14 31
  • 81 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia slc39a14 30
  • 70.33 (n)
Zebrafish
(Danio rerio)
 Actinopterygii SLC39A14 31
  • 67 (a)
 OneToOne
LOC799782 30
  • 63.93 (n)
Worm
(Caenorhabditis elegans)
 Secernentea Y55F3BL.2 30 31
  • 49.33 (n)
 ManyToMany
tag-140 31
  • 19 (a)
 ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes YKE4 31
  • 24 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 39 (a)
 OneToMany
Species where no ortholog for SLC39A14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SLC39A14: view image

Paralogs for SLC39A14 Gene

Paralogs for SLC39A14 Gene

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

  • S39AE_HUMAN
  • E5RFF5_HUMAN
  • E5RFT1_HUMAN
  • E5RFZ8_HUMAN
  • E5RGA7_HUMAN
  • E5RIP4_HUMAN
  • E5RJ40_HUMAN
  • E5RJG5_HUMAN

Pseudogenes.org Pseudogenes for SLC39A14 Gene

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Variants for SLC39A14 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC39A14 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
708790 Benign: not provided 22,404,734(+) G/A SYNONYMOUS_VARIANT
710439 Benign: not provided 22,415,765(+) C/A INTRON_VARIANT
711484 Benign: not provided 22,414,848(+) T/C SYNONYMOUS_VARIANT
714377 Likely Benign: not provided 22,404,733(+) C/G MISSENSE_VARIANT
719493 Benign: not provided 22,417,642(+) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for SLC39A14 Gene

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)

Additional Variant Information 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

(18) MalaCards diseases for SLC39A14 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypermanganesemia with dystonia 2
  • hmndyt2
hyperostosis cranialis interna
  • hcin
hypermanganesemia with dystonia
  • familial manganese-induced neurotoxicity
hyperostosis
  • bone hypertrophy
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.
  • Hyperostosis cranialis interna (HCIN) [MIM:144755]: An autosomal dominant bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII, its first symptoms often presenting during the second decade of life. {ECO:0000269 PubMed:29621230}. Note=The disease is caused by mutations affecting the gene represented in this entry. Conditional knockin mice overexpressing Arg-438 variant, which is the mouse equivalent of human variant Leu-441, in osteoblasts have a severe skeletal phenotype marked by a drastic increase in cortical thickness due to an enhanced endosteal bone formation, resembling the underlying pathology in HCI patients. {ECO:0000269 PubMed:29621230}.

Additional Disease Information for SLC39A14

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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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 KM … Nicholson RI (FEBS letters 2005) 3 4 23
  2. The LZT proteins; the LIV-1 subfamily of zinc transporters. (PMID: 12659941) Taylor KM … Nicholson RI (Biochimica et biophysica acta 2003) 2 3 4
  3. The solute carriers ZIP8 and ZIP14 regulate manganese accumulation in brain microvascular endothelial cells and control brain manganese levels. (PMID: 31699897) Steimle BL … Kosman DJ (The Journal of biological chemistry 2019) 3 4
  4. The intestinal metal transporter ZIP14 maintains systemic manganese homeostasis. (PMID: 31028174) Scheiber IF … Zhao N (The Journal of biological chemistry 2019) 3 4
  5. Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis. (PMID: 29621230) Hendrickx G … Van Hul W (PLoS genetics 2018) 3 4

ExternalLinks

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Products for SLC39A14 Gene

  • Signalway Proteins for SLC39A14

Sources for SLC39A14 Gene