Gene Gene information from NCBI Gene database.
Entrez ID 55654
Gene name Transmembrane protein 127
Gene symbol TMEM127
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2q11.2
Summary 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.
20
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.
1084
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613403 26038 ENSG00000135956
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1523
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary cancer-predisposing syndrome Likely pathogenic; Pathogenic rs121908822, rs121908814, rs121908825, rs2104287651, rs1684398953, rs1684388744, rs587781773, rs121908830, rs727503490, rs2467265981, rs2467266399, rs2467285692, rs2467266690, rs2467284973, rs121908821
View all (26 more)
RCV002453425
RCV000566096
RCV001021845
RCV005493185
RCV006287556
RCV003303274
RCV000130014
RCV000164900
RCV005286030
RCV002323233
RCV002445819
RCV002353174
RCV002426462
RCV002428446
RCV002450518
RCV002446425
RCV003181668
RCV005505637
RCV003301477
RCV003301480
RCV004333281
RCV003380262
RCV003380270
RCV005752243
RCV004369462
RCV004474907
RCV004522231
RCV004522237
RCV004522241
RCV004522244
RCV004522247
RCV004522260
RCV000574362
RCV001021873
RCV001022916
RCV002404428
RCV000572543
RCV003162866
RCV003163212
RCV001015587
RCV001026387
RCV004030685
RCV005502970
RCV002436648
RCV005749753
Hereditary pheochromocytoma and paraganglioma Pathogenic; Likely pathogenic rs121908825, rs2104288018, rs2104307293, rs2104308495, rs2104308592, rs121908813, rs121908822, rs121908814, rs121908815, rs2104287651, rs2104308313, rs1684398953, rs1684388744, rs587781773, rs121908826
View all (43 more)
RCV001376818
RCV001379227
RCV001390789
RCV001382789
RCV001380763
RCV005359056
RCV000530563
RCV005089575
RCV003517136
RCV001985357
RCV002007180
RCV001999957
RCV001880923
RCV001229517
RCV002512592
RCV001381352
RCV003517124
RCV000152047
RCV003517432
RCV005098141
RCV002715304
RCV002736802
RCV002824988
RCV003028124
RCV005102880
RCV003633714
RCV003404769
RCV003517531
RCV003517526
RCV003517932
RCV003517113
RCV003634607
RCV003634736
RCV003634887
RCV003634879
RCV003634966
RCV003635081
RCV003828082
RCV003853460
RCV003862440
RCV005100601
RCV005100602
RCV000556401
RCV001215668
RCV000699788
RCV000536742
RCV000535843
RCV000545315
RCV000549267
RCV001056017
RCV000639344
RCV000690695
RCV000697217
RCV000692290
RCV000698368
RCV000807821
RCV002551958
RCV001068692
RCV001055349
RCV001035532
RCV001062786
RCV001221200
RCV001226729
RCV001246329
Inherited phaeochromocytoma and paraganglioma excluding NF1 Pathogenic rs121908816 RCV006443444
Lymphoma Pathogenic rs121908821 RCV005931936
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Conflicting classifications of pathogenicity; Uncertain significance rs760633411, rs1472610237 RCV000760995
RCV005912383
Acute promyelocytic leukemia Uncertain significance rs992633976 RCV000761105
Hereditary cancer Conflicting classifications of pathogenicity rs764012422 RCV005231292
Uveal melanoma Uncertain significance rs762657413 RCV000761095
Associations from Text MiningDisease 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