SLC39A5 (solute carrier family 39 member 5)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
283375
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 39 member 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC39A5
Synonyms (NCBI Gene) Gene synonyms aliases
LZT-Hs7, MYP24, ZIP5
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MYP24
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene belongs to the ZIP family of zinc transporters that transport zinc into cells from outside, and play a crucial role in controlling intracellular zinc levels. Zinc is an essential cofactor for many enzymes and proteins invo
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs199624584 C>A,G,T Pathogenic Non coding transcript variant, coding sequence variant, synonymous variant, 5 prime UTR variant, stop gained
rs587777625 T>C,G Pathogenic Coding sequence variant, missense variant, non coding transcript variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0001654 Process Eye development IMP 24891338
GO:0003674 Function Molecular_function ND
GO:0005385 Function Zinc ion transmembrane transporter activity IBA 21873635
GO:0005887 Component Integral component of plasma membrane IBA 21873635
GO:0006882 Process Cellular zinc ion homeostasis IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608730 20502 ENSG00000139540
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q6ZMH5
Protein name Zinc transporter ZIP5 (Solute carrier family 39 member 5) (Zrt- and Irt-like protein 5) (ZIP-5)
Protein function Uniporter that transports zinc(2+) into polarized cells of enterocytes, pancreatic acinar and endoderm cells across the basolateral membrane and participates, notably, in zinc excretion from the intestine by the uptake of zinc from the blood int
PDB 7Y9C , 7YF2 , 7YF4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02535 Zip 210 → 527 ZIP Zinc transporter Family
Tissue specificity TISSUE SPECIFICITY: Expressed in liver, kidney, pancreas, small intestine, colon, spleen, fetal liver and fetal kidney. {ECO:0000269|PubMed:15322118}.
Sequence 
MMGSPVSHLLAGFCVWVVLGWVGGSVPNLGPAEQEQNHYLAQLFGLYGENGTLTAGGLAR
LLHSLGLGRVQGLRLGQHGPLTGRAASPAADNSTHRPQNPELSVDVWAGMPLGPSGWGDL
EESKAPHLPRGPAPSGLDLLHRLLLLDHSLADHLNEDCLNGSQLLVNFGLSPAAPLTPRQ
FALLCPALLYQIDSRVCIGAPAPAPPGDLLSALLQSALAVLLLSLPSPLSLLLLRLLGPR
LLRPLLGFLGALAVGTLCGDALLHLLPHAQEGRHAGPGGLPEKDLGPGLSVLGGLFLLFV
LENMLGLLRHRGLRPRCCRRKRRNLETRNLDPENGSGMALQPLQAAPEPGAQGQREKNSQ
HPPALAPPGHQGHSHGHQGGTDITWMVLLGDGLHNLTDGLAIGAAFSDGFSSGLSTTLAV
FCHELPHELGDFAMLLQSGLSFRRLLLLSLVSGALGLGGAVLGVGLSLGPVPLTPWVFGV
TAGVFLYVALVDMLPALLRPPEPLPTPHVLLQGLGLLLGGGLMLAITLLEERLLPVTTEG
Sequence length 540
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Alzheimer disease
Parkinson disease 		 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Myopia Myopia, MYOPIA 24, AUTOSOMAL DOMINANT rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805
View all (6 more)		 24891338, 25525168
Show/Hide Text Mining Associations (4)
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 32744318
Myopia Associate 28442722, 34302427, 35002215, 37191617
Retinal Diseases Associate 37191617
Zinc Deficiency Neonatal due to Low Breast Milk Zinc Associate 34302427