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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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
View all (40 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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
View all (59 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inherited phaeochromocytoma and paraganglioma excluding NF1 Pathogenic rs121908816 RCV006443444
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphoma Pathogenic rs121908821 RCV005931936
★★★★☆
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
Acute myeloid leukemia Conflicting classifications of pathogenicity; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute promyelocytic leukemia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLEAR CELL PAPILLARY RENAL CELL CARCINOMA Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hereditary cancer Conflicting classifications of pathogenicity 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
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 20154675, 20923864, 21156949, 21447639, 21613359, 21784903, 22183643, 22419703, 22541004, 23551308, 23652672, 24334765, 24466223, 25389632, 26960314
View all (4 more)
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma HPO_DG
★☆☆☆☆
Found in Text Mining only
Aniridia Aniridia HPO_DG
★☆☆☆☆
Found in Text Mining only
Capillary hemangioma of retina Capillary Hemangioma Of Retina HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinoid tumor of intestine Carcinoid Tumor Of Intestine GENOMICS_ENGLAND_DG
★☆☆☆☆
Found in Text Mining only
Carcinoma of Endocrine Gland Endocrine Gland cancer GENOMICS_ENGLAND_DG
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 32575117 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Neuroendocrine Carcinoma GENOMICS_ENGLAND_DG
★☆☆☆☆
Found in Text Mining only
Clear cell renal carcinoma Renal Carcinoma Orphanet
★☆☆☆☆
Found in Text Mining only
Conductive hearing loss Hearing Loss HPO_DG
★☆☆☆☆
Found in Text Mining only