Gene Gene information from NCBI Gene database.
Entrez ID 252839
Gene name Transmembrane protein 9
Gene symbol TMEM9
Synonyms (NCBI Gene)
DERM4TMEM9A
Chromosome 1
Chromosome location 1q32.1
miRNA miRNA information provided by mirtarbase database.
288
miRTarBase ID miRNA Experiments Reference
MIRT050914 hsa-miR-17-5p CLASH 23622248
MIRT046083 hsa-miR-125b-5p CLASH 23622248
MIRT1439637 hsa-miR-1226 CLIP-seq
MIRT1439638 hsa-miR-136 CLIP-seq
MIRT1439639 hsa-miR-2277-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 30374053, 32296183, 33961781
GO:0005764 Component Lysosome IDA 12359240
GO:0005764 Component Lysosome IEA
GO:0005765 Component Lysosomal membrane IDA 30374053
GO:0005765 Component Lysosomal membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616877 18823 ENSG00000116857
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P0T7
Protein name Proton-transporting V-type ATPase complex assembly regulator TMEM9 (v-ATPase assembly regulator TMEM9) (Dermal papilla-derived protein 4) (Transmembrane protein 9) (Protein TMEM9)
Protein function Transmembrane protein that binds to and facilitates the assembly of lysosomal proton-transporting V-type ATPase (v-ATPase), resulting in enhanced lysosomal acidification and trafficking (PubMed:30374053). By bringing the v-ATPase accessory prote
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05434 Tmemb_9 41 182 TMEM9 Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in adrenal gland, thyroid gland, testis, ovary and prostate (PubMed:12359240). Moderate expression in trachea, spinal cord, stomach, colon, small intestine and spleen (PubMed:12359240, PubMed:30374053). Low expression
Sequence
Sequence length 183
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
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
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenomatous Polyposis Coli Inhibit 36596527
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 36596527
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 31210410
★☆☆☆☆
Found in Text Mining only
Lung Injury Associate 32459537
★☆☆☆☆
Found in Text Mining only
Muscular Diseases Associate 35543701
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 36596527
★☆☆☆☆
Found in Text Mining only