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:0005789 Component Endoplasmic reticulum membrane IBA 21873635
GO:0005789 Component Endoplasmic reticulum membrane IDA 31806350
GO:0006914 Process Autophagy IEA
GO:0016020 Component Membrane IBA 21873635
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Multiple sclerosis Multiple Sclerosis rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039
View all (4 more)
21833088
Unknown
Disease term Disease name Evidence References Source
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Biliary Cholangitis Biliary Cholangitis GWAS
Associations from Text Mining
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