Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55254
Gene name Gene Name - the full gene name approved by the HGNC.
Transmembrane protein 39A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TMEM39A
Synonyms (NCBI Gene) Gene synonyms aliases
SUSR2
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q13.33
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Biliary Cholangitis Primary biliary cholangitis N/A N/A GWAS
Systemic lupus erythematosus Systemic lupus erythematosus N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Hepatitis B Associate 39237981
Lupus Erythematosus Systemic Stimulate 22464253
Lupus Erythematosus Systemic Associate 22464253, 25890262, 28427360
Multiple Sclerosis Associate 20007504