Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
221074
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 39 member 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC39A12
Synonyms (NCBI Gene) Gene synonyms aliases
LZT-Hs8, ZIP-12, ZIP12, bA570F3.1
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10p12.33
Summary Summary of gene provided in NCBI Entrez Gene.
Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A12 belongs to a subfamily
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019023 hsa-miR-335-5p Microarray 18185580
MIRT1363199 hsa-miR-2681 CLIP-seq
MIRT1363200 hsa-miR-3978 CLIP-seq
MIRT1363201 hsa-miR-4261 CLIP-seq
MIRT1363202 hsa-miR-4694-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001841 Process Neural tube formation ISS
GO:0005385 Function Zinc ion transmembrane transporter activity IBA
GO:0005385 Function Zinc ion transmembrane transporter activity IEA
GO:0005385 Function Zinc ion transmembrane transporter activity ISS
GO:0005886 Component Plasma membrane IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608734 20860 ENSG00000148482
Protein
UniProt ID Q504Y0
Protein name Zinc transporter ZIP12 (LIV-1 subfamily of ZIP zinc transporter 8) (LZT-Hs8) (Solute carrier family 39 member 12) (Zrt- and Irt-like protein 12) (ZIP-12)
Protein function Uniporter that promotes Zn(2+) import from the extracellular space to the cytoplasm across the cell membrane. The transport activity is temperature dependent. May play a role in neurulation and neurite extension. May play a key role in maintaini
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18292 ZIP4_domain 63 222 Zinc transporter ZIP4 domain Domain
PF02535 Zip 364 683 ZIP Zinc transporter Family
Tissue specificity TISSUE SPECIFICITY: Expressed in brain and eye. {ECO:0000269|PubMed:12107410, ECO:0000269|PubMed:15342556}.
Sequence
Sequence length 691
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Alzheimer disease
Parkinson disease
 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hypertension Hypertension N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 32744318
Dystonic Disorders Associate 35486108
Refsum Disease Infantile Associate 35486108
Retinal Degeneration Associate 35486108