SH3TC2

SH3 domain and tetratricopeptide repeats-containing protein 2 is a protein that in humans is encoded by the SH3TC2 gene.^[5][6] It is believed to be expressed in the Schwann cells that wrap the myelin sheath around nerves.

SH3TC2
Identifiers
Aliases	SH3TC2, CMT4C, MNMN, SH3 domain and tetratricopeptide repeats 2
External IDs	OMIM: 608206; MGI: 2444417; HomoloGene: 11596; GeneCards: SH3TC2; OMA:SH3TC2 - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q32 Start 148,923,639 bp[1] End 149,063,163 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18|18 E1 Start 62,086,146 bp[2] End 62,157,473 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in corpus callosum sural nerve C1 segment internal globus pallidus placenta gonad right testis apex of heart optic nerve left testis Top expressed in otic vesicle right kidney sciatic nerve urothelium renal corpuscle transitional epithelium of urinary bladder vestibular membrane of cochlear duct Gonadal ridge human kidney vestibular labyrinth More reference expression data BioGPS More reference expression data
Orthologs Species Human Mouse Entrez 79628 225608 Ensembl ENSG00000169247 ENSMUSG00000045629 UniProt Q8TF17 Q80VA5 RefSeq (mRNA) NM_024577 NM_172628 RefSeq (protein) NP_078853 NP_766216 Location (UCSC) Chr 5: 148.92 – 149.06 Mb Chr 18: 62.09 – 62.16 Mb PubMed search [3] [4]
Wikidata
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Function

This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule.^[6]

The mouse version (orthologue) of SH3TC2 is believed to be expressed in Schwann cells. The tagged protein localizes to the plasma membrane and to the perinuclear endocytic recycling compartment. Mice lacking Sh3tc2 have an abnormal organization of the node of Ranvier consistent with the idea that the protein might have a role in myelination or in axon – glial cell interactions.^[7][8]

Clinical significance

Mutations in SH3TC2 are known to cause the following conditions:

• Charcot-Marie-Tooth disease type 4C, an autosomal recessive childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons;^[6]
• Mononeuropathy of the median nerve (MNMN) at the wrist.^[9]