TMEM127 - transmembrane protein 127 Gene

Homo sapiens

Gene ID: 55654 | Gene type: protein coding

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	Reference	Source
enables small GTPase binding	IDA IDA: Inferred from direct assay	24334765	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	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

Bioactive Molecules (1)

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

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