Gene Gene information from NCBI Gene database.
Entrez ID 10463
Gene name Solute carrier family 30 member 9
Gene symbol SLC30A9
Synonyms (NCBI Gene)
BILAPESC4orf1GAC63HUELZNT9
Chromosome 4
Chromosome location 4p13
SNPs SNP information provided by dbSNP.
1
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.
337
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604604 1329 ENSG00000014824
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
18
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome Likely pathogenic; Pathogenic rs752245649, rs2153138452, rs1412346108, rs1131692331 RCV001731146
RCV001807883
RCV002308498
RCV000496089
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
See cases Uncertain significance rs577403817 RCV002252442
SLC30A9-related disorder Benign; Likely benign rs16853872, rs115329927, rs368704320 RCV003974070
RCV003973820
RCV003964050
Associations from Text MiningDisease 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