1. Gene
  2. TMEM127 - transmembrane protein 127 Gene

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

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