SH3 Domain and Tetratricopeptide Repeat Domain 2

Alternative Names

  • SH3TC2
  • KIAA1985
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OMIM Number

608206

NCBI Gene ID

79628

Uniprot ID

Q8TF17

Length

80,913 bases

No. of Exons

17

No. of isoforms

5

Protein Name

SH3 domain and tetratricopeptide repeat-containing protein 2

Molecular Mass

144,777 Da

Amino Acid Count

1288

Genomic Location

chr5:148,982,150-149,063,062

Gene Map Locus
5q32

Description

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. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_024577.4:c.2238dupSaudi ArabiaNC_000005.10:g.149027495dupLikely PathogenicCharcot-Marie-Tooth Disease, Demyelinating,Type 4CNG_007947.2:g.40681dup; NM_024577.4:c.2238dup; NP_078853.2:p.Cys747LeufsTer2
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