Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10463
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 30 member 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC30A9
Synonyms (NCBI Gene) Gene synonyms aliases
BILAPES, C4orf1, GAC63, HUEL, ZNT9
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p13
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1131692331 CAG>- Pathogenic Coding sequence variant, non coding transcript variant, inframe deletion
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT043696 hsa-miR-342-3p CLASH 23622248
MIRT573166 hsa-miR-545-5p PAR-CLIP 20371350
MIRT573165 hsa-miR-143-3p PAR-CLIP 20371350
MIRT573164 hsa-miR-4770 PAR-CLIP 20371350
MIRT573163 hsa-miR-6088 PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003682 Function Chromatin binding IEA
GO:0003713 Function Transcription coactivator activity IEA
GO:0005385 Function Zinc ion transmembrane transporter activity IDA 34716203
GO:0005634 Component Nucleus IDA 10409434
GO:0005634 Component Nucleus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604604 1329 ENSG00000014824
Protein
UniProt ID Q6PML9
Protein name Proton-coupled zinc antiporter SLC30A9, mitochondrial (Human embryonic lung protein) (HuEL) (Solute carrier family 30 member 9) (Zinc transporter 9) (ZnT-9)
Protein function Mitochondrial proton-coupled zinc ion antiporter mediating the export of zinc from the mitochondria and involved in zinc homeostasis, zinc mobilization as well as mitochondrial morphology and health (PubMed:28334855, PubMed:34397090, PubMed:3443
PDB 2ENK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01545 Cation_efflux 240 450 Cation efflux family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed in fetal and adult tissues and cancer cell lines. {ECO:0000269|PubMed:10409434, ECO:0000269|PubMed:28334855}.
Sequence
MLPGLAAAAAHRCSWSSLCRLRLRCRAAACNPSDRQEWQNLVTFGSFSNMVPCSHPYIGT
LSQVKLYSTNVQKEGQGSQTLRVEKVPSFETAEGIGTELKAPLKQEPLQVRVKAVLKKRE
YGSKYTQNNFITGVRAINEFCLKSSDLEQLRKIRRRSPHEDTESFTVYLRSDVEAKSLEV
WGSPEALAREKKLRKEAEIEYRERLFRNQKILREYRDFLGNTKPRSRTASVFFKGPGKVV
MVAICINGLNCFFKFLAWIYTGSASMFSEAIHSLSDTCNQGLLALGISKSVQTPDPSHPY
GFSNMRYISSLISGVGIFMMGAGLSWYHGVMGLLHPQPIESLLWAYCILAGSLVSEGATL
LVAVNELRRNARAKGMSFYKYVMESRDPSTNVILLEDTAAVLGVIIAATCMGLTSITGNP
LYDSLGSLGVGTLLGMVSAFLIYTNTEALL
GRSIQPEQVQRLTELLENDPSVRAIHDVKA
TDLGLGKVRFKAEVDFDGRVVTRSYLEKQDFDQMLQEIQEVKTPEELETFMLKHGENIID
TLGAEVDRLEKELKKRNPEVRHVDLEIL
Sequence length 568
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Psychomotor Regression-Oculomotor Apraxia-Movement Disorder-Nephropathy Syndrome psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome rs1131692331 N/A
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
Neuroticism Neuroticism N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 35049094
Alzheimer Disease Associate 29935546, 36776048
Anorchia Associate 37041080
Apraxia oculomotor Cogan type Associate 37041080
Birk Barel Mental Retardation Dysmorphism Syndrome Associate 37041080
Colorectal Neoplasms Associate 36055981
Depressive Disorder Associate 32099098
Heredodegenerative Disorders Nervous System Associate 37041080
Hyperkinesis Associate 37041080
Kidney Diseases Associate 37041080