Gene Gene information from NCBI Gene database.
Entrez ID 55254
Gene name Transmembrane protein 39A
Gene symbol TMEM39A
Synonyms (NCBI Gene)
SUSR2
Chromosome 3
Chromosome location 3q13.33
miRNA miRNA information provided by mirtarbase database.
82
miRTarBase ID miRNA Experiments Reference
MIRT052363 hsa-let-7a-5p CLASH 23622248
MIRT1436969 hsa-miR-1185 CLIP-seq
MIRT1436970 hsa-miR-299-3p CLIP-seq
MIRT1436971 hsa-miR-3166 CLIP-seq
MIRT1436972 hsa-miR-3605-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 31806350, 31849860
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
GO:0005789 Component Endoplasmic reticulum membrane IDA 31806350
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF10271 Tmp39 42 477 Putative transmembrane protein Family
Tissue specificity TISSUE SPECIFICITY: Up-regulated in brain tumor glioblastoma multiforme cells (at protein level). {ECO:0000269|PubMed:28133515}.
Sequence
Sequence length 488
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
BILIARY LIVER CIRRHOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS 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
Autoimmune Diseases Autoimmune Diseases BEFREE 22194214, 31553233, 31806350
★☆☆☆☆
Found in Text Mining only
Hepatitis B Hepatitis b Pubtator 39237981 Associate
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus Systemic Systemic lupus erythematosus Pubtator 22464253 Stimulate
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus Systemic Systemic lupus erythematosus Pubtator 22464253, 25890262, 28427360 Associate
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus, Systemic Lupus Erythematosus BEFREE 22464253, 25890262, 28427360
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus, Systemic Lupus Erythematosus GWASCAT_DG 28714469
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Multiple Sclerosis Multiple Sclerosis BEFREE 20007504, 22194214
★☆☆☆☆
Found in Text Mining only
Multiple Sclerosis Multiple sclerosis Pubtator 20007504 Associate
★☆☆☆☆
Found in Text Mining only
Multiple Sclerosis Multiple Sclerosis GWASDB_DG 21833088
★☆☆☆☆
Found in Text Mining only