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FLASH GENE

Symbol

SH3TC2

contributors: mct/npt/pgu - updated : 18-02-2013

HGNC name	SH3 domain and tetratricopeptide repeats 2
HGNC id	29427

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

widely

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 Hearing/Equilibrium ear inner cochlea   highly Nervous brain diencephalon hypothalamus       spinal cord         Reproductive female system placenta     highly Visual eye retina

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly Nervous peripherous       Homo sapiens Adult

cells

System Cell Pubmed Species Stage Rna symbol Nervous Schawnn cell Homo sapiens Adult

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two N-terminal Src homology 3 (SH3) domains
	ten tetratricopeptide repeat (TPR) motifs arranged in tandem arrays

HOMOLOGY

interspecies

ortholog to murine Sh3tc2

Homologene

FAMILY

CATEGORY

adaptor

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
text	localizes to the plasma membrane and to the perinuclear endocytic recycling compartment

basic FUNCTION	playing a role in myelination and in the integrity of the node of Ranvier, a morphological phenotype that can be used as an additional CMT4C diagnostic marker
	influences transferrin receptor dynamics, consistent with a functional role on the endocytic recycling pathway
	essential role for the SH3TC2 gene in peripheral nerve myelination

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacts preferentially with the GTP-bound form of RAB11, identifying SH3TC2 as a novel RAB11 effector
	interacts with the small guanosine triphosphatase RAB11A, regulating the recycling of internalized membranes and receptors back to the cell surface (SH3TC2/RAB11A interaction is relevant for peripheral nerve pathophysiology and place endosomal recycling on the list of cellular mechanisms involved in Schwann cell myelination)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMT4C

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Sh3tc2(DeltaEx1/DeltaEx1) mice demonstrated that these animals represent a valid model of CMT4C neuropathy and allowed us to unveil the Sh3tc2 function in the myelination process and in the node of Ranvier integrity