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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome Likely pathogenic; Pathogenic rs752245649, rs2153138452, rs1412346108, rs1131692331 RCV001731146
RCV001807883
RCV002308498
RCV000496089
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 29935546, 36776048 Associate
★☆☆☆☆
Found in Text Mining only
Apraxia oculomotor Cogan type Apraxia Pubtator 37041080 Associate
★☆☆☆☆
Found in Text Mining only
BIRK-LANDAU-PEREZ SYNDROME Birk-Landau-Perez Syndrome ORPHANET_DG 28334855
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIRK-LANDAU-PEREZ SYNDROME Birk-Landau-Perez Syndrome GENOMICS_ENGLAND_DG 28334855
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 11906820
★☆☆☆☆
Found in Text Mining only
Choreoathetosis Choreoathetosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 30129075
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 36055981 Associate
★☆☆☆☆
Found in Text Mining only
Depressive Disorder Major depressive disorder Pubtator 32099098 Associate
★☆☆☆☆
Found in Text Mining only