TMEM127 - transmembrane protein 127 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55654

About TMEM127

Cytogenetic location: 2q11.2 Genomic coordinates (GRCh38): 2:96,248,514-96,265,997 (from NCBI)

This gene has 3 transcripts (splice variants), 203 orthologues and is associated with 59 phenotypes. Ubiquitous expression in heart (RPKM 15.7), esophagus (RPKM 13.6) and 25 other tissues.

Summary

This gene encodes a transmembrane protein with four 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 in protein trafficking between these structures. Mutations in this gene and several Other genes cause pheochromocytomas. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2022]

TMEM127 Products (4)

mRNA	Protein	Name
NM_001193304.3	NP_001180233.1	transmembrane protein 127 isoform 1
NM_001407282.1	NP_001394211.1	transmembrane protein 127 isoform 2
NM_001407283.1	NP_001394212.1	transmembrane protein 127 isoform 2
NM_017849.4	NP_060319.1	transmembrane protein 127 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables small GTPase binding	IDA IDA: Inferred from direct assay	24334765	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of TOR signaling	IMP IMP: Inferred from mutant phenotype	20154675	GOA
involved in negative regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	20154675	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	20154675	GOA
located in early endosome	IDA IDA: Inferred from direct assay	24334765	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	20154675	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
transmembrane protein 127

Related Diseases

Diseases	Alias
Pheochromocytoma	Pheochromocytoma, Susceptibility To Phaeochromocytoma Adrenal Gland Chromaffin Paraganglioma Adrenal Gland Chromaffinoma Adrenal Gland Paraganglioma Adrenal Gland Pheochromocytoma Chromaffin Paraganglioma Of The Adrenal Gland Intraadrenal Paraganglioma PCC Chromaffin Cell Tumor Medullary Chromaffinoma Medullary Paraganglioma Pheochromoblastoma Pheochromocytomas Chromaffin Cell Neoplasm Pheochromocytoma, Malignant
Hereditary Paraganglioma-Pheochromocytoma Syndromes	Hereditary Pheochromocytoma-Paraganglioma Hereditary Paraganglioma-Pheochromocytoma Familial Pheochromocytoma-Paraganglioma Paragangliomas 2 Paragangliomas 3 Paragangliomas 4 Sdhx-Related Paraganglioma-Pheochromocytoma Familial Paraganglioma Syndrome Familial Paraganglioma-Pheochromocytoma Syndromes Fpgl Fpgl/Pheo Paragangliomas 1 Paraganglioma
Inherited Cancer-Predisposing Syndrome	Hereditary Cancer-Predisposing Syndrome
Bap1 Tumor Predisposition Syndrome	Bap1-Related Tumor Predisposition Syndrome Common Syndrome Bap1 Cancer Syndrome Bap1-Tpds Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms Tumor Predisposition Syndrome Tumor Susceptibility Linked To Germline Bap1 Mutations Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms Tumor Predisposition
Clear Cell Papillary Renal Cell Carcinoma
Persistent Generalized Lymphadenopathy	Pgl Persistant Generalized Lymphadenopathy
Malignant Pheochromocytoma	Pheochromocytoma, Malignant
Adrenal Medulla Cancer	Adrenal Medulla Neoplasm Adrenal Medulla Tumor Malignant Neoplasm Of Adrenal Medulla Malignant Tumor Of The Adrenal Medulla Adrenal Medulla Carcinoma Neoplasm Of Adrenal Medulla
Paraganglioma	Chemodectoma Glomus Body Tumor Paragangliomas Carotid Body Paraganglioma Extra-Adrenal Paraganglioma
Esophagus Leiomyoma	Leiomyoma Of Esophagus
Extra-Adrenal Pheochromocytoma	Pheochromocytoma, Extra-Adrenal
Multiple Endocrine Neoplasia, Type Iib	Multiple Endocrine Neoplasia Type 2b MEN2B Wagenmann-Froboese Syndrome Multiple Endocrine Neoplasia Iib Mucosal Neuroma Syndrome Multiple Endocrine Neoplasia, Type 3 Multiple Endocrine Neoplasia, Type 2b Men Iib Neuromata, Mucosal, With Endocrine Tumors Multiple Endocrine Neoplasia, Type Iii, Formerly Men3, Formerly Men Type Iib Men 2b Multiple Endocrine Neoplasia Type 3 Multiple Neoplasia 2b Neoplasia, Endocrine, Multiple, Type Iib
Lymph Node Disease	Abnormality Of The Lymph Nodes Disorder Of Lymph Node
Retinal Hemangioblastoma	Capillary Hemangioma Of Retina
Multiple Endocrine Neoplasia, Type Iia	Multiple Endocrine Neoplasia Type 2a Sipple Syndrome Multiple Endocrine Neoplasia Type 2 MEN2A Men2 Ptc Syndrome Multiple Endocrine Neoplasia, Type 2 Multiple Endocrine Neoplasia Iia Men 2a Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma Multiple Endocrine Neoplasia, Type 2a Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma Multiple Endocrine Neoplasia Ii Men2 Syndrome Men-2a Syndrome Multiple Neoplasia 2a Multiple Neoplasia Type 2
Paraganglioma And Gastric Stromal Sarcoma	Carney-Stratakis Syndrome Paraganglioma And Gastrointestinal Stromal Tumor Carney Dyad Carney-Stratakis Dyad Of Paraganglioma And Gastric Stromal Sarcoma Paraganglioma And Gist Carney-Stratakis Dyad Gist-Paraganglioma Dyad PGGSS Paraganglioma, Gastric Stromal Sarcoma Gastrointestinal Stromal Tumors
Duodenal Somatostatinoma	Duodenal Delta Cell Somatostatin Producing Tumor Duodenal Somatostatin-Producing Neuroendocrine Tumor
Peripheral Nervous System Benign Neoplasm
Autonomic Nervous System Benign Neoplasm
Endocrine Organ Benign Neoplasm
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Disease Vhl Vhl Syndrome VHLS Von Hippel-Lindau Syndrome, Modifier Of Hippel Lindau Syndrome Angiomatosis Retinae Cerebelloretinal Angiomatosis, Familial Hippel-Lindau Disease Familial Cerebelloretinal Angiomatosis Lindau Disease VHLD
Multiple Mucosal Neuroma
Thyroid Gland Cancer	Thyroid Gland Carcinoma Malignant Neoplasm Of Thyroid Gland Malignant Tumour Of Thyroid Gland Thyroid Neoplasm Thyroid Neoplasms Neoplasm Of Thyroid Gland Thyroid Gland Neoplasm Head And Neck Cancer, Thyroid Neoplasm Of The Thyroid Gland Cancer Of The Thyroid Primary Malignant Neoplasm Of Thyroglossal Duct Malignant Neoplasm Of Thyroglossal Duct Primary Malignant Neoplasm Of Thyroid Gland Thyroglossal Duct Cancer Toxic Goitre Malignant Tumour Cancerous Goitre
Cardiovascular Organ Benign Neoplasm
Neurofibromatosis, Type I	Von Recklinghausen Disease Neurofibromatosis 1 Neurofibromatosis, Type 1 NF1 Neurofibromatosis, Peripheral Type Neurofibromatosis Type I Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion Familial Spinal Neurofibromatosis Fsnf Peripheral Neurofibromatosis Von Recklinghausen'S Neurofibromatosis Von Recklinghausen Disease Due To Nf1 Mutation Or Intragenic Deletion Neurofibromatosis Peripheral Type Von Recklinghausen Syndrome Neurofibromatosis Type 1 Von Recklinghausen Neuropathy Nf1 - [Neurofibromatosis Type 1] Recklinghausen Disease
Gastrointestinal Stromal Tumor	GIST Gastrointestinal Stromal Tumors Gastrointestinal Stromal Sarcoma Gastrointestinal Stromal Tumor, Familial Gant Gastrointestinal Stromal Tumour Stromal Tumor Of Gastrointestinal Tract Stromal Tumour Of Gastrointestinal Tract Gastrointestinal Stromal Neoplasm Paraganglioma And Gastric Stromal Sarcoma Plexosarcoma

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14660	TMEM127 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TMEM127	VGNC	VGNC:47461
Mus musculus	TMEM127	MGD	MGI:1916720
Felis catus	TMEM127	VGNC	VGNC:66265
Macaca mulatta	TMEM127	VGNC	VGNC:106234
Bos taurus	TMEM127	VGNC	VGNC:35960
Rattus norvegicus	TMEM127	RGD	RGD:1309744
Others	TMEM127	NCBI