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FLASH GENE

Symbol

TMEM127

contributors: mct/npt/pgu - updated : 01-06-2010

HGNC name	transmembrane protein 127
HGNC id	26038

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	2q11.2      Physical location : 96.915.946 - 96.931.751
Synonym symbol(s)	FLJ20507, FLJ22257

DNA

TYPE	functioning gene
STRUCTURE	15.42 kb     4 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_017849 4 - 4223 NP_060319 - 238 - 2010 20154675

EXPRESSION

Type

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive intestine large intestine colon       intestine small intestine       Endocrine pancreas         Lymphoid/Immune spleen           thymus         Nervous brain         Reproductive female system placenta         male system prostate         male system testis       Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

PhosphoP

HOMOLOGY

interspecies	homolog to murine Tmem127 (98.7pc)
	homolog to rattus Tmem127 (99.2pc)

Homologene

FAMILY

CATEGORY

tumor suppressor

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome

basic FUNCTION	acting as a negative regulator of mTOR
	may participate in protein trafficking between endosomes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

negative regulator of MTOR (dynamically associates with the endomembrane system and colocalizes with perinuclear (activated) MTOR, suggesting a subcompartmental-specific effect)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral germinal mutation       truncating germline TMEM127 in approximately 30p100 of familial tumors and about 3p100 of sporadic-appearing pheochromocytomas tumoral germinal mutation       in multiple head and neck paraganglioma

Susceptibility

to pheochromocytoma

Variant & Polymorphism	truncating germline TMEM127 mutations in approximately 30p100 of familial tumors and about 3p100 of sporadic-appearing pheochromocytomas

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS