Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23516
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 39 member 14
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC39A14
Synonyms (NCBI Gene) Gene synonyms aliases
HCIN, HMNDYT2, LZT-Hs4, NET34, ZIP14, cig19
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HCIN, HMNDYT2
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p21.3
Summary Summary of gene provided in NCBI Entrez 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 metalloprot
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002062 Process Chondrocyte differentiation ISS
GO:0005381 Function Iron ion transmembrane transporter activity ISS
GO:0005384 Function Manganese ion transmembrane transporter activity IMP 31028174, 31699897
GO:0005385 Function Zinc ion transmembrane transporter activity IBA 21873635
GO:0005385 Function Zinc ion transmembrane transporter activity IDA 15642354, 21917916
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608736 20858 ENSG00000104635
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Developmental regression Developmental regression rs1224421127
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Hypermanganesemia with dystonia Hypermanganesemia with dystonia 2 rs879253763, rs879253764, rs879253765, rs879253766, rs750281602, rs1039778197 27231142, 29685658, 29382362
Unknown
Disease term Disease name Evidence References Source
Hyperostosis hyperostosis cranialis interna GenCC
Hypermanganesemia With Dystonia hypermanganesemia with dystonia 2 GenCC
Associations from Text Mining
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