Homo sapiens Gene: SH3TC2

Summary
InnateDB Gene IDBG-52739.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol SH3TC2
Gene Name SH3 domain and tetratricopeptide repeats 2
Synonyms CMT4C; MNMN
Species Homo sapiens
Ensembl Gene ENSG00000169247
Encoded Proteins
IDBP-52741 SH3 domain and tetratricopeptide repeats 2
IDBP-241753 SH3 domain and tetratricopeptide repeats 2
IDBP-474243 SH3 domain and tetratricopeptide repeats 2
IDBP-475898 SH3 domain and tetratricopeptide repeats 2
IDBP-481227 SH3 domain and tetratricopeptide repeats 2
IDBP-476812 SH3 domain and tetratricopeptide repeats 2
IDBP-483351 SH3 domain and tetratricopeptide repeats 2
IDBP-484252 SH3 domain and tetratricopeptide repeats 2
IDBP-474605 SH3 domain and tetratricopeptide repeats 2
IDBP-480222 SH3 domain and tetratricopeptide repeats 2
IDBP-592835 SH3 domain and tetratricopeptide repeats 2
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 5: 148303202-148442726
Strand Reverse strand
Band q32
Transcripts
ENST00000323829  ENSP00000313025
ENST00000394358  ENSP00000377886
ENST00000504690  ENSP00000425627
ENST00000510350 
ENST00000515229 
ENST00000504517  ENSP00000421779
ENST00000502274  ENSP00000421092
ENST00000510779  ENSP00000423940
ENST00000515425  ENSP00000423660
ENST00000512049  ENSP00000421860
ENST00000513604  ENSP00000423111
ENST00000511307  ENSP00000421420
ENST00000513340 
ENST00000503071 
ENST00000511949 
ENST00000504091 
ENST00000538184  ENSP00000441427
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein‑Protein  0
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 1
[view]
RNA-RNA 0
DNA-RNA 0
 
Gene Ontology
Accession GO Term
Molecular Function
GO:0005515 protein binding
Biological Process
GO:0032287 peripheral nervous system myelin maintenance
Cellular Component
GO:0005886 plasma membrane
GO:0055037 recycling endosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000045629 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000017151 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q8TF17 
TrEMBL B3KXB9 C9JLC3 D6RA65 D6RFX2 E9PDF1 F5GYY0 H0Y8Q9 Q14CC0
UniProt Splice Variant
Entrez Gene 79628 
UniGene Hs.692108
RefSeq NM_024577 
HUGO 29427 
OMIM 608206
CCDS CCDS4293 
HPRD 10496
IMGT
EMBL AB075865 AC011364 AC116312 AF370410 AK023667 AK124854 AK127050 AK127248 AY341075 BC113879 BC114486 CH471062
GenPept AAI13880  AAI14487  AAQ15246  AAR03497  BAB14631  BAB85571  BAC86899  BAG54107  BAG54431  EAW61796 
ImmGen SH3TC2 (murine) 
RNA Seq Atlas 79628