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FLASH GENE

Symbol

TRIM2

contributors: mct - updated : 08-02-2012

HGNC name	tripartite motif-containing 2
HGNC id	15974

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMT2R Charcot-Marie-Tooth disease, type 2R
Location	4q31.3      Physical location : 154.074.269 - 154.260.474
Synonym name	KIAA0517 protein
Synonym symbol(s)	KIAA0517, RNF86

DNA

TYPE	functioning gene
STRUCTURE	186.20 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_015271 12 - 6757 - 771 - 2011 20796172 NM_001130067 12 - 6792 - 744 - 2011 20796172

EXPRESSION

Type	ubiquitous

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 Digestive intestine large intestine colon     Endocrine neuroendocrine pituitary     highly Hearing/Equilibrium ear       highly Nervous brain limbic system hippocampus   highly Homo sapiens   nerve       highly Homo sapiens

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N-terminal RING zinc finger
	two B box domains (one type 1 and one type 2)
	a coiled-coil domain (RBCC) so called tripartite motif (TRIM)
	a FIL (filamin-type immunoglobulin) domain
	a NHL domain

HOMOLOGY

Homologene

FAMILY	C-VII TRIM family
	B box family, RBCC (TRIM family)

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,intermed filament
text	filaments

basic FUNCTION	ubiquitin-protein ligase, involved in cancerogenesis and the defense against viral infection
	important function of TRIM2 for axon outgrowth during development
	RING (really interesting new gene) domain-containing protein
	role for TRIM2 in mediating the p42/p44 MAPK-dependent ubiquitination of BCL2L11 in rapid ischemic tolerance

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	ion Zn2+

protein	binds to neurofilament light subunit (NF-L) and regulates NF-L ubiquitination
	binds to BCL2L11 when it is phosphorylated by p42/p44 MAPK

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMT2R

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

neurodegeneration in Trim2GT mutant mice is accompanied by axonal swelling and accumulation of NF-L