• Gene id: 79628

Gene Summary

• Gene Symbol: SH3TC2   Gene   UCSC   Ensembl
• Aliases: CMT4C, MNMN
• Gene name: SH3 domain and tetratricopeptide repeats 2
• Alternate names: SH3 domain and tetratricopeptide repeat-containing protein 2, SH3 domain and tetratricopeptide repeats-containing protein 2,
• Gene location: 5q32 (149063061: 148982149)     Exons: 17     NC_000005.10
• Gene summary(Entrez): 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 g
• OMIM: 605086

Protein Summary

• Protein general information: Q8TF17  
  • Name: SH3 domain and tetratricopeptide repeat containing protein 2
  • Length: 1288  
  • Mass: 144777
  • Tissue specificity: Strongly expressed in brain and spinal cord. Expressed at equal level in spinal cord and sciatic nerve. Weakly expressed in striated muscle. {ECO
• Sequence:

  MGGCFCIPRERSLTRGPGKETPSKDPTVSSECIASSEYKEKCFLPQNINPDLTLSFCVKSRSRRCVNGPLQEAAR
  RRLWALENEDQEVRMLFKDLSARLVSIQSQRAQFLITFKTMEEIWKFSTYLNLGYVSMCLEHLLFDHKYWLNCIL
  VEDTEIQVSVDDKHLETIYLGLLIQEGHFFCRALCSVTPPAEKEGECLTLCKNELISVKMAEAGSELEGVSLVTG
  QRGLVLVSALEPLPLPFHQWFLKNYPGSCGLSRKRDWTGSYQIGRGRCKALTGYEPGEKDELNFYQGESIEIIGF
  VIPGLQWFIGKSTSSGQVGFVPTRNIDPDSYSPMSRNSAFLSDEERCSLLALGSDKQTECSSFLHTLARTDITSV
  YRLSGFESIQNPPNDLSASQPEGFKEVRPGRAWEEHQAVGSRQSSSSEDSSLEEELLSATSDSYRLPEPDDLDDP
  ELLMDLSTGQEEEAENFAPILAFLDHEGYADHFKSLYDFSFSFLTSSFYSFSEEDEFVAYLEASRKWAKKSHMTW
  AHARLCFLLGRLSIRKVKLSQARVYFEEAIHILNGAFEDLSLVATLYINLAAIYLKQRLRHKGSALLEKAGALLA
  CLPDRESSAKHELDVVAYVLRQGIVVGSSPLEARACFLAIRLLLSLGRHEEVLPFAERLQLLSGHPPASEAVASV
  LSFLYDKKYLPHLAVASVQQHGIQSAQGMSLPIWQVHLVLQNTTKLLGFPSPGWGEVSALACPMLRQALAACEEL
  ADRSTQRALCLILSKVYLEHRSPDGAIHYLSQALVLGQLLGEQESFESSLCLAWAYLLASQAKKALDVLEPLLCS
  LKETESLTQRGVIYNLLGLALQGEGRVNRAAKSYLRALNRAQEVGDVHNQAVAMANLGHLSLKSWAQHPARNYLL
  QAVRLYCELQASKETDMELVQVFLWLAQVLVSGHQLTHGLLCYEMALLFGLRHRHLKSQLQATKSLCHFYSSVSP
  NPEACITYHEHWLALAQQLRDREMEGRLLESLGQLYRNLNTARSLRRSLTCIKESLRIFIDLGETDKAAEAWLGA
  GRLHYLMQEDELVELCLQAAIQTALKSEEPLLALKLYEEAGDVFFNGTRHRHHAVEYYRAGAVPLARRLKAVRTE
  LRIFNKLTELQISLEGYEKALEFATLAARLSTVTGDQRQELVAFHRLATVYYSLHMYEMAEDCYLKTLSLCPPWL
  QSPKEALYYAKVYYRLGRLTFCQLKDAHDATEYFLLALAAAVLLGDEELQDTIRSRLDNICQSPLWHSRPSGCSS
  ERARWLSGGGLAL

• Structural information:
  • Protein Domains: (176..24-)
    (/note="SH3-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (268..33-)
    (/note="SH3-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR036028  IPR001452  IPR042772  IPR011990  IPR019734  
  • Prosite: PS50002
  • STRING: ENSP00000423660
• Other Databases: GeneCards:  SH3TC2  Malacards:  SH3TC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033157	regulation of intracellular protein transport	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:1901184	regulation of ERBB signaling pathway	IEA	biological process
GO:0032287	peripheral nervous system myelin maintenance	IEA	biological process
GO:0022011	myelination in peripheral nervous system	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0033157	regulation of intracellular protein transport	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:1901184	regulation of ERBB signaling pathway	IEA	biological process
GO:0032287	peripheral nervous system myelin maintenance	IEA	biological process
GO:0022011	myelination in peripheral nervous system	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Charcot-Marie-Tooth disease	KEGG:H00264
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881