Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55654
Gene name Gene Name - the full gene name approved by the HGNC.
Transmembrane protein 127
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TMEM127
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a transmembrane protein with 3 predicted transmembrane domains. The protein is associated with a subpopulation of vesicular organelles corresponding to early endosomal structures, with the Golgi, and with lysosomes, and may participate i
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121908821 C>A,G Likely-pathogenic, pathogenic, risk-factor Splice acceptor variant
rs121908822 TCTG>- Likely-pathogenic, pathogenic 5 prime UTR variant, frameshift variant, coding sequence variant
rs121908823 C>T Conflicting-interpretations-of-pathogenicity, benign, likely-benign 5 prime UTR variant, coding sequence variant, missense variant
rs121908824 G>A,C,T Likely-pathogenic, uncertain-significance, likely-benign Synonymous variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121908825 C>A Likely-pathogenic, pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020187 hsa-miR-130b-3p Sequencing 20371350
MIRT027949 hsa-miR-93-5p Sequencing 20371350
MIRT044180 hsa-miR-99b-5p CLASH 23622248
MIRT039082 hsa-miR-769-3p CLASH 23622248
MIRT698363 hsa-miR-548c-3p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IDA 20154675
GO:0005737 Component Cytoplasm IEA
GO:0005769 Component Early endosome IDA 24334765
GO:0005886 Component Plasma membrane IDA 20154675
GO:0005886 Component Plasma membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613403 26038 ENSG00000135956
Protein
UniProt ID O75204
Protein name Transmembrane protein 127
Protein function Controls cell proliferation acting as a negative regulator of TOR signaling pathway mediated by mTORC1. May act as a tumor suppressor.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:20154675}.
Sequence
MYAPGGAGLPGGRRRRSPGGSALPKQPERSLASALPGALSITALCTALAEPAWLHIHGGT
CSRQELGVSDVLGYVHPDLLKDFCMNPQTVLLLRVIAAFCFLGILCSLSAFLLDVFGPKH
PALKITRRYAFAHILTVLQCATVIGFSYWASELILAQQQQHKKYHGSQVYVTFAVSFYLV
AGAGGASILATAANLLRHYPTEEEEQALELLSEMEENEPYPAEYEVINQFQPPPAYTP
Sequence length 238
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)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hereditary Pheochromocytoma-Paraganglioma hereditary pheochromocytoma-paraganglioma rs121908816, rs1558752379, rs121908830, rs1553436874, rs121908826, rs1558752468, rs121908821, rs780133289, rs1573969322, rs121908815, rs121908813, rs1573977924, rs587781773, rs1553437737, rs1684148846
View all (11 more)
N/A
Pheochromocytoma pheochromocytoma rs121908829, rs1558752379, rs121908821, rs121908831, rs121908815, rs121908813, rs780133289, rs121908822, rs587781773, rs121908814, rs121908826, rs886039439, rs121908825, rs121908816, rs121908830
View all (1 more)
N/A
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
acute myeloid leukemia Acute myeloid leukemia N/A N/A ClinVar
Diabetes Type 2 diabetes (adjusted for BMI) N/A N/A GWAS
hereditary cancer Hereditary cancer N/A N/A ClinVar
ovarian cancer Ovarian cancer N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adrenal Gland Neoplasms Associate 21156949
Carcinoma Renal Cell Associate 32575117
Frontotemporal Dementia Associate 21156949
Ganglioneuroma Associate 32508744
GATA2 Deficiency Associate 32321919
Leukemia Associate 37557169
Mesothelioma Associate 37556141
Mesothelioma Malignant Associate 30113886
Multiple Endocrine Neoplasia Type 1 Associate 23778871
Neoplasms Inhibit 20154675