SH3TC2

Protein identityUniProt · HPA

UniProt accession

Q8TF17

Gene

SH3TC2

Ensembl

ENSG00000169247

Chromosome

5

Canonical length

1288 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Cytosol

Quaternary structure

Homodimer

OverviewNCBI Gene

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. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1288 residues, UniProt reviewed canonical sequence.

>Q8TF17|SH3TC2
     1  MGGCFCIPRE RSLTRGPGKE TPSKDPTVSS ECIASSEYKE KCFLPQNINP DLTLSFCVKS
    61  RSRRCVNGPL QEAARRRLWA LENEDQEVRM LFKDLSARLV SIQSQRAQFL ITFKTMEEIW
   121  KFSTYLNLGY VSMCLEHLLF DHKYWLNCIL VEDTEIQVSV DDKHLETIYL GLLIQEGHFF
   181  CRALCSVTPP AEKEGECLTL CKNELISVKM AEAGSELEGV SLVTGQRGLV LVSALEPLPL
   241  PFHQWFLKNY PGSCGLSRKR DWTGSYQIGR GRCKALTGYE PGEKDELNFY QGESIEIIGF
   301  VIPGLQWFIG KSTSSGQVGF VPTRNIDPDS YSPMSRNSAF LSDEERCSLL ALGSDKQTEC
   361  SSFLHTLART DITSVYRLSG FESIQNPPND LSASQPEGFK EVRPGRAWEE HQAVGSRQSS
   421  SSEDSSLEEE LLSATSDSYR LPEPDDLDDP ELLMDLSTGQ EEEAENFAPI LAFLDHEGYA
   481  DHFKSLYDFS FSFLTSSFYS FSEEDEFVAY LEASRKWAKK SHMTWAHARL CFLLGRLSIR
   541  KVKLSQARVY FEEAIHILNG AFEDLSLVAT LYINLAAIYL KQRLRHKGSA LLEKAGALLA
   601  CLPDRESSAK HELDVVAYVL RQGIVVGSSP LEARACFLAI RLLLSLGRHE EVLPFAERLQ
   661  LLSGHPPASE AVASVLSFLY DKKYLPHLAV ASVQQHGIQS AQGMSLPIWQ VHLVLQNTTK
   721  LLGFPSPGWG EVSALACPML RQALAACEEL ADRSTQRALC LILSKVYLEH RSPDGAIHYL
   781  SQALVLGQLL GEQESFESSL CLAWAYLLAS QAKKALDVLE PLLCSLKETE SLTQRGVIYN
   841  LLGLALQGEG RVNRAAKSYL RALNRAQEVG DVHNQAVAMA NLGHLSLKSW AQHPARNYLL
   901  QAVRLYCELQ ASKETDMELV QVFLWLAQVL VSGHQLTHGL LCYEMALLFG LRHRHLKSQL
   961  QATKSLCHFY SSVSPNPEAC ITYHEHWLAL AQQLRDREME GRLLESLGQL YRNLNTARSL
  1021  RRSLTCIKES LRIFIDLGET DKAAEAWLGA GRLHYLMQED ELVELCLQAA IQTALKSEEP
  1081  LLALKLYEEA GDVFFNGTRH RHHAVEYYRA GAVPLARRLK AVRTELRIFN KLTELQISLE
  1141  GYEKALEFAT LAARLSTVTG DQRQELVAFH RLATVYYSLH MYEMAEDCYL KTLSLCPPWL
  1201  QSPKEALYYA KVYYRLGRLT FCQLKDAHDA TEYFLLALAA AVLLGDEELQ DTIRSRLDNI
  1261  CQSPLWHSRP SGCSSERARW LSGGGLAL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SH3TC2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

4.5 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SH3TC2.

Disease | AllUniProt

Conditions SH3TC2 is implicated in, by any mechanism.

• Charcot-Marie-Tooth disease, demyelinating, type 4C (CMT4C) MIM:601596
• Mononeuropathy of the median nerve mild (MNMN) MIM:613353

Disease | GeneticClinVar

166 pathogenic / likely-pathogenic of 1,876 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Charcot-Marie-Tooth disease type 4
• Charcot-Marie-Tooth disease type 4C
• Susceptibility to mononeuropathy of the median nerve, mild
• Charcot-Marie-Tooth disease
• Inborn genetic diseases

Disease | ImmuneIEDB

Conditions an epitope on SH3TC2 was assayed in.

• human immunodeficiency virus infectious disease T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.81

gnomAD pLI

0

gnomAD missense Z

-0.71

DepMap mean gene effect

0.03

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• peripheral nervous system myelin maintenance
• regulation of endocytic recycling
• regulation of intracellular protein transport
• regulation of ERBB signaling pathway

Cellular components

• plasma membrane
• recycling endosome

Protein domainsUniProt · Pfam · InterPro

• SH3 domain
• Tetratricopeptide-like helical domain superfamily
• Tetratricopeptide repeat
• SH3-like domain superfamily
• SH3 domain and tetratricopeptide repeat-containing protein SH3TC1/SH3TC2
• SH3 domain

KeywordsUniProt

• Cell membrane
• Charcot-Marie-Tooth disease
• Endosome
• Lipoprotein
• Membrane
• Myristate
• Neurodegeneration
• Neuropathy
• Repeat
• SH3 domain
• TPR repeat

InteractionsUniProt · HPA

Protein binding partners of SH3TC2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• RAB11A