SLC39A13 (solute carrier family 39 member 13)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
91252
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 39 member 13
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC39A13
Synonyms (NCBI Gene) Gene synonyms aliases
EDSSPD3, LZT-Hs9, SCDEDS, ZIP13
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the LIV-1 subfamily of the ZIP transporter family. The encoded transmembrane protein functions as a zinc transporter. Mutations in this gene have been associated with the spondylocheiro dysplastic form of Ehlers-Danlos syndro
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs121434363 G>A Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs140574574 C>A,T Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, non coding transcript variant, missense variant
rs140597965 T>C Likely-benign, conflicting-interpretations-of-pathogenicity Intron variant
rs148291843 C>G Benign, conflicting-interpretations-of-pathogenicity Non coding transcript variant, missense variant, coding sequence variant
rs753665968 T>A Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(81)
miRTarBase ID miRNA Experiments Reference
MIRT042304 hsa-miR-484 CLASH 23622248
MIRT720683 hsa-miR-3943 HITS-CLIP 19536157
MIRT720681 hsa-miR-4286 HITS-CLIP 19536157
MIRT720682 hsa-miR-6801-3p HITS-CLIP 19536157
MIRT720680 hsa-miR-6810-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(40)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IC 21917916
GO:0000139 Component Golgi membrane IDA 31412620
GO:0000139 Component Golgi membrane IEA
GO:0005385 Function Zinc ion transmembrane transporter activity IBA
GO:0005385 Function Zinc ion transmembrane transporter activity IC 18985159
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608735 20859 ENSG00000165915
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q96H72
Protein name Zinc transporter ZIP13 (LIV-1 subfamily of ZIP zinc transporter 9) (LZT-Hs9) (Solute carrier family 39 member 13) (Zrt- and Irt-like protein 13) (ZIP-13)
Protein function Functions as a zinc transporter transporting Zn(2+) from the Golgi apparatus to the cytosol and thus influences the zinc level at least in areas of the cytosol (PubMed:21917916, PubMed:23213233). May regulate beige adipocyte differentiation (By
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02535 Zip 65 → 205 ZIP Zinc transporter Family
PF02535 Zip 171 → 367 ZIP Zinc transporter Family
Sequence 
MPGCPCPGCGMAGPRLLFLTALALELLERAGGSQPALRSRGTATACRLDNKESESWGALL
SGERLDTWICSLLGSLMVGLSGVFPLLVIPLEMGTMLRSEAGAWRLKQLLSFALGGLLGN
VFLHLLPEAWAYTCSASPGGEGQSLQQQQQLGLWVIAGILTFLALEKMFLDSKEEGTSQA
PNKDPTAAAAALNGGHCLAQPAAEPGLGAVVRSIKVSGYLNLLANTIDNFTHGLAVAASF
LVSKKIGLLTTMAILLHEIPHEVGDFAILLRAGFDRWSAAKLQLSTALGGLLGAGFAICT
QSPKGVVGCSPAAEETAAWVLPFTSGGFLYIALVNVLPDLLEEEDPWRSLQQLLLLCAGI
VVMVLFSLFVD
Sequence length 371
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Alzheimer disease
Parkinson disease 		 
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (8)
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
Connective Tissue Disease Connective tissue disorder N/A N/A ClinVar
Ehlers-Danlos Syndrome Ehlers-Danlos syndrome, spondylocheirodysplastic type, ehlers-danlos syndrome N/A N/A ClinVar, GenCC
Hypertension Hypertension N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Show/Hide Text Mining Associations (15)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Body Dysmorphic Disorders Associate 32295219
Breast Neoplasms Associate 32744318
Cognition Disorders Associate 27211562
Connective Tissue Diseases Associate 32295219
Developmental Disabilities Associate 27211562
Dysplastic Nevus Syndrome Associate 18513683, 23213233
Ehlers Danlos Syndrome Associate 18513683, 23213233, 32295219
Ehlers Danlos syndrome type 3 Associate 18513683, 28882145, 32295219
Growth Disorders Associate 32295219
Keratoconus Associate 32295219