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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hypermanganesemia with dystonia 2 Pathogenic; Likely pathogenic rs1015949817, rs879253763, rs879253764, rs879253765, rs879253766, rs750281602, rs2487138087, rs1039778197, rs1291490743 RCV001814608
RCV000234926
RCV000234923
RCV000234924
RCV000234927
View all (4 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperostosis cranialis interna Likely pathogenic; Pathogenic rs1039778197, rs1554520924 RCV004798841
RCV000626416
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Congenital heart disease Conflicting classifications of pathogenicity; Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DYSTONIA-PARKINSONISM, ADULT-ONSET CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DYSTONIA-PARKINSONISM-HYPERMANGANESEMIA SYNDROME Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Bone Diseases Bone Disease BEFREE 29621230
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 32744318 Associate
★☆☆☆☆
Found in Text Mining only
Calcinosis Calcinosis Pubtator 32259211 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 21373779 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 36062189 Associate
★☆☆☆☆
Found in Text Mining only
Cerebellar atrophy Cerebellar atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Cerebral atrophy Cerebral Atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Chronic Kidney Diseases Kidney Disease BEFREE 29921869
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 20938052, 22173985, 23118106
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal Neoplasms BEFREE 20938052
★☆☆☆☆
Found in Text Mining only