TMEM39A (transmembrane protein 39A)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 55254 |
| Gene name | Transmembrane protein 39A |
| Gene symbol | TMEM39A |
| Synonyms (NCBI Gene) |
SUSR2
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| Chromosome | 3 |
| Chromosome location | 3q13.33 |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9NV64 | ||||||||||
| Protein name | Transmembrane protein 39A | ||||||||||
| Protein function | Regulates autophagy by controlling the spatial distribution and levels of the intracellular phosphatidylinositol 4-phosphate (PtdIns(4)P) pools (PubMed:31806350). Modulates (PtdIns(4)P) levels by regulating the ER-to-Golgi trafficking of the pho | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Up-regulated in brain tumor glioblastoma multiforme cells (at protein level). {ECO:0000269|PubMed:28133515}. | ||||||||||
| Sequence |
MPGGRRGPSRQQLSRSALPSLQTLVGGGCGNGTGLRNRNGSAIGLPVPPITALITPGPVR |
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| Sequence length | 488 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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Related Genes
Genes most often co-reported with TMEM39A across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to TMEM39A (see Related Genes above), that are NOT already directly curated for TMEM39A itself -- a lead worth checking, not a confirmed association.
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