Gene Gene information from NCBI Gene database.
Entrez ID 9528
Gene name Transmembrane protein 59
Gene symbol TMEM59
Synonyms (NCBI Gene)
C1orf8DCF1HSPC001PRO195UNQ169
Chromosome 1
Chromosome location 1p32.3
Summary This gene encodes a protein shown to regulate autophagy in response to bacterial infection. This protein may also regulate the retention of amyloid precursor protein (APP) in the Golgi apparatus through its control of APP glycosylation. Overexpression of
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs776119905 C>A,G,T Risk-factor Genic downstream transcript variant, 3 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
545
miRTarBase ID miRNA Experiments Reference
MIRT005138 hsa-miR-30a-5p pSILAC 18668040
MIRT005138 hsa-miR-30a-5p Proteomics;Other 18668040
MIRT045645 hsa-miR-149-5p CLASH 23622248
MIRT052744 hsa-miR-1260b CLASH 23622248
MIRT663007 hsa-miR-6808-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0000137 Component Golgi cis cisterna IDA 20427278
GO:0000138 Component Golgi trans cisterna IDA 20427278
GO:0000139 Component Golgi membrane IEA
GO:0004175 Function Endopeptidase activity IEA
GO:0005515 Function Protein binding IPI 23376921
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617084 1239 ENSG00000116209
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BXS4
Protein name Transmembrane protein 59 (Liver membrane-bound protein)
Protein function Acts as a regulator of autophagy in response to S.aureus infection by promoting activation of LC3 (MAP1LC3A, MAP1LC3B or MAP1LC3C). Acts by interacting with ATG16L1, leading to promote a functional complex between LC3 and ATG16L1 and promoting L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12280 BSMAP 72 256 Brain specific membrane anchored protein Family
Sequence
MAAPKGSLWVRTQLGLPPLLLLTMALAGGSGTASAEAFDSVLGDTASCHRACQLTYPLHT
YPKEEELYACQRGCRLFSICQFVDDGIDLNRTKLECESACTEAYSQSDEQYACHLGCQNQ
LPFAELRQEQLMSLMPKMHLLFPLTLVRSFWSDMMDSAQSFITSSWTFYLQADDGKIVIF
QSKPEIQYAPHLEQEPTNLRESSLSKMSYLQMRNSQAHRNFLEDGESDGFLRCLSLNSGW
ILTTTLVLSVMVLLWI
CCATVATAVEQYVPSEKLSIYGDLEFMNEQKLNRYPASSLVVVR
SKTEDHEEAGPLPTKVNLAHSEI
Sequence length 323
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
ESTROGEN RESISTANCE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Estrogen resistance syndrome risk factor ClinVar
★★☆☆☆
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
Alzheimer Disease Alzheimer disease Pubtator 22451312 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 22451312
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 31531752
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 31531752
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 17543375 Associate
★☆☆☆☆
Found in Text Mining only
Central Nervous System Diseases Central nervous system disease Pubtator 34799992 Associate
★☆☆☆☆
Found in Text Mining only
ESTROGEN RESISTANCE Estrogen Resistance CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Glioblastoma Glioblastoma BEFREE 30001801
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 34799992 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 30001801
★☆☆☆☆
Found in Text Mining only