Gene Gene information from NCBI Gene database.
Entrez ID 23516
Gene name Solute carrier family 39 member 14
Gene symbol SLC39A14
Synonyms (NCBI Gene)
HCINHMNDYT2LZT-Hs4NET34ZIP14cig19
Chromosome 8
Chromosome location 8p21.3
Summary 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 metalloprot
SNPs SNP information provided by dbSNP.
9
SNP ID Visualize variation Clinical significance Consequence
rs750281602 C>G,T Pathogenic Missense variant, coding sequence variant, intron variant, synonymous variant
rs879253763 T>G Pathogenic Coding sequence variant, missense variant
rs879253764 G>A,T Pathogenic Stop gained, coding sequence variant, missense variant
rs879253765 CA>- Pathogenic Frameshift variant, intron variant, coding sequence variant
rs879253766 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
701
miRTarBase ID miRNA Experiments Reference
MIRT020522 hsa-miR-155-5p Proteomics 18668040
MIRT021386 hsa-miR-9-5p Microarray 17612493
MIRT023528 hsa-miR-1-3p Proteomics 18668040
MIRT028244 hsa-miR-33a-5p Sequencing 20371350
MIRT031421 hsa-miR-16-5p Proteomics 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
79
GO ID Ontology Definition Evidence Reference
GO:0002062 Process Chondrocyte differentiation IEA
GO:0002062 Process Chondrocyte differentiation ISS
GO:0005381 Function Iron ion transmembrane transporter activity IEA
GO:0005381 Function Iron ion transmembrane transporter activity ISS
GO:0005384 Function Manganese ion transmembrane transporter activity IDA 27231142
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608736 20858 ENSG00000104635
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15043
Protein name Metal cation symporter ZIP14 (LIV-1 subfamily of ZIP zinc transporter 4) (LZT-Hs4) (Solute carrier family 39 member 14) (Zrt- and Irt-like protein 14) (ZIP-14)
Protein 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:27231
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02535 Zip 151 483 ZIP Zinc transporter Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed, with higher expression in liver, pancreas, fetal liver, thyroid gland, left and right ventricle, right atrium and fetal heart (PubMed:15642354, PubMed:20682781, PubMed:7584044). Weakly expressed in spleen, thymu
Sequence
Sequence length 492
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ferroptosis
Alzheimer disease
Parkinson disease
  Zinc influx into cells by the SLC39 gene family
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
45
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hypermanganesemia with dystonia 2 Pathogenic; Likely pathogenic rs1015949817, rs879253763, rs879253764, rs879253765, rs879253766, rs750281602, rs2487138087, rs1039778197, rs1291490743 RCV001814608
RCV000234926
RCV000234923
RCV000234924
RCV000234927
RCV000234922
RCV003236256
RCV000515834
RCV001814300
Hyperostosis cranialis interna Likely pathogenic; Pathogenic rs1039778197, rs1554520924 RCV004798841
RCV000626416
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital heart disease Conflicting classifications of pathogenicity; Benign; Likely benign rs142292859, rs140164699 RCV005626709
RCV005626252
Hepatocellular carcinoma Benign rs33999442 RCV005923773
Lung cancer Benign rs76009801 RCV005917196
Malignant lymphoma, large B-cell, diffuse Benign rs33999442 RCV005923774
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Disease Associate 23110240
Adenoma Associate 20938052
Breast Neoplasms Associate 32744318
Calcinosis Associate 32259211
Carcinoma Hepatocellular Associate 21373779
Carcinoma Renal Cell Associate 36062189
Colorectal Neoplasms Associate 20938052
Colorectal Neoplasms Inhibit 35924107
Dystonia Associate 29382362, 29685658
Endotoxemia Associate 23110240