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Aliases for SH3TC2 Gene

Aliases for SH3TC2 Gene

  • SH3 Domain And Tetratricopeptide Repeats 2 2 3 5
  • SH3 Domain And Tetratricopeptide Repeats-Containing Protein 2 3
  • SH3 Domain And Tetratricopeptide Repeat-Containing Protein 2 3
  • KIAA1985 4
  • CMT4C 3
  • MNMN 3

External Ids for SH3TC2 Gene

Previous GeneCards Identifiers for SH3TC2 Gene

  • GC05M148365
  • GC05M143506
  • GC05M148303

Summaries for SH3TC2 Gene

Entrez Gene Summary for SH3TC2 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]

GeneCards Summary for SH3TC2 Gene

SH3TC2 (SH3 Domain And Tetratricopeptide Repeats 2) is a Protein Coding gene. Diseases associated with SH3TC2 include Charcot-Marie-Tooth Disease, Type 4C and Mononeuropathy Of The Median Nerve, Mild. An important paralog of this gene is SH3TC1.

Gene Wiki entry for SH3TC2 Gene

Additional gene information for SH3TC2 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SH3TC2 Gene

Genomics for SH3TC2 Gene

Regulatory Elements for SH3TC2 Gene

Enhancers for SH3TC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05H149133 1.7 FANTOM5 Ensembl ENCODE dbSUPER 21.2 -72.2 -72221 3.6 TBP FOXA2 RAD21 RFX5 YY1 EGR1 FOS EGR2 SMARCC1 USF2 SH3TC2 AFAP1L1 MIR584 SH3TC2-DT RNU6-732P ENSG00000248647 ENSG00000253406 ABLIM3 GC05M149117 RN7SKP145
GH05H149124 1.4 Ensembl ENCODE dbSUPER 23.4 -64.7 -64709 6.2 NFIB ZSCAN4 ZNF2 RAD21 ZNF143 FOS RCOR1 SMARCA5 ZNF654 GATAD2B SH3TC2 SH3TC2-DT MIR584 RNU6-732P AFAP1L1 ENSG00000248647 ENSG00000253406 ABLIM3 RN7SKP145 GC05M149117
GH05H149001 1.3 Ensembl ENCODE dbSUPER 22 +60.3 60348 2.3 GTF2F1 TBP SOX13 CTCF FOXA2 SAP130 JUN MAX FEZF1 RAD21 SH3TC2 RNU6-732P MIR584 SH3TC2-DT ADRB2 ENSG00000248647 ENSG00000253406 GC05M149010 GC05M148982
GH05H149060 1.4 Ensembl ENCODE dbSUPER 15.3 +0.8 827 4.6 PKNOX1 ATF1 NFIB ARID4B FOS RCOR1 SP5 CEBPB REST MIER2 SH3TC2 SH3TC2-DT ABLIM3 GC05M149060 MIR584 RNU6-732P
GH05H149140 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.7 -79.4 -79355 4.5 FOXA2 ARID4B SIN3A YY1 GLIS2 ZNF143 ATF7 SP3 SP5 REST ABLIM3 HMGXB3 FBXO38 ENSG00000251330 SH3TC2 ADRB2 GC05M149047
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SH3TC2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SH3TC2 Gene

Genomic Locations for SH3TC2 Gene
139,536 bases
Minus strand

Genomic View for SH3TC2 Gene

Genes around SH3TC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SH3TC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SH3TC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SH3TC2 Gene

Proteins for SH3TC2 Gene

  • Protein details for SH3TC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    SH3 domain and tetratricopeptide repeat-containing protein 2
    Protein Accession:
    Secondary Accessions:
    • B3KWE5
    • Q14CC0
    • Q14CF5
    • Q9H8I5

    Protein attributes for SH3TC2 Gene

    1288 amino acids
    Molecular mass:
    144777 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SH3TC2 Gene


neXtProt entry for SH3TC2 Gene

Post-translational modifications for SH3TC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SH3TC2 Gene

Domains & Families for SH3TC2 Gene

Gene Families for SH3TC2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for SH3TC2 Gene

Suggested Antigen Peptide Sequences for SH3TC2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SH3TC2: view

No data available for UniProtKB/Swiss-Prot for SH3TC2 Gene

Function for SH3TC2 Gene

Phenotypes From GWAS Catalog for SH3TC2 Gene

genes like me logo Genes that share phenotypes with SH3TC2: view

Human Phenotype Ontology for SH3TC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SH3TC2 Gene

MGI Knock Outs for SH3TC2:

miRNA for SH3TC2 Gene

miRTarBase miRNAs that target SH3TC2

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for SH3TC2 Gene

Localization for SH3TC2 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SH3TC2 gene
Compartment Confidence
nucleus 3
cytosol 3
plasma membrane 2
endosome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SH3TC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0031410 cytoplasmic vesicle IEA --
GO:0055037 recycling endosome IEA --
genes like me logo Genes that share ontologies with SH3TC2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for SH3TC2 Gene

Pathways & Interactions for SH3TC2 Gene

SuperPathways for SH3TC2 Gene

No Data Available

Interacting Proteins for SH3TC2 Gene

Gene Ontology (GO) - Biological Process for SH3TC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022011 myelination in peripheral nervous system IEA --
GO:0032287 peripheral nervous system myelin maintenance IEA --
GO:0033157 regulation of intracellular protein transport IEA --
GO:1901184 regulation of ERBB signaling pathway IEA --
genes like me logo Genes that share ontologies with SH3TC2: view

No data available for Pathways by source and SIGNOR curated interactions for SH3TC2 Gene

Drugs & Compounds for SH3TC2 Gene

No Compound Related Data Available

Transcripts for SH3TC2 Gene

Unigene Clusters for SH3TC2 Gene

SH3 domain and tetratricopeptide repeats 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SH3TC2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a ·
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - -
SP5: -
SP6: - -

ExUns: 17b · 17c ^ 18a · 18b · 18c ^ 19
SP2: - - -
SP4: -

Relevant External Links for SH3TC2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SH3TC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SH3TC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SH3TC2 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x8.2), Brain - Substantia nigra (x5.1), and Nerve - Tibial (x4.5).

Protein differential expression in normal tissues from HIPED for SH3TC2 Gene

This gene is overexpressed in Heart (32.5), Bone (21.7), and Peripheral blood mononuclear cells (14.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SH3TC2 Gene

Protein tissue co-expression partners for SH3TC2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SH3TC2 Gene:


SOURCE GeneReport for Unigene cluster for SH3TC2 Gene:


mRNA Expression by UniProt/SwissProt for SH3TC2 Gene:

Tissue specificity: Strongly expressed in brain and spinal cord. Expressed at equal level in spinal cord and sciatic nerve. Weakly expressed in striated muscle.

Evidence on tissue expression from TISSUES for SH3TC2 Gene

  • Nervous system(4.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SH3TC2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • mouth
  • tongue
  • lung
  • rib
  • rib cage
  • pelvis
  • arm
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • upper limb
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with SH3TC2: view

Orthologs for SH3TC2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SH3TC2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SH3TC2 33 34
  • 99.56 (n)
(Bos Taurus)
Mammalia SH3TC2 33 34
  • 88.38 (n)
(Canis familiaris)
Mammalia SH3TC2 33 34
  • 88.33 (n)
(Rattus norvegicus)
Mammalia Sh3tc2 33
  • 83.06 (n)
(Mus musculus)
Mammalia Sh3tc2 33 16 34
  • 82.96 (n)
(Monodelphis domestica)
Mammalia SH3TC2 34
  • 62 (a)
(Ornithorhynchus anatinus)
Mammalia SH3TC2 34
  • 44 (a)
(Gallus gallus)
Aves SH3TC2 33 34
  • 63.48 (n)
(Anolis carolinensis)
Reptilia SH3TC2 34
  • 51 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sh3tc2 33
  • 54.47 (n)
(Danio rerio)
Actinopterygii sh3tc2 33 34 34
  • 51.53 (n)
Species where no ortholog for SH3TC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SH3TC2 Gene

Gene Tree for SH3TC2 (if available)
Gene Tree for SH3TC2 (if available)

Paralogs for SH3TC2 Gene

Paralogs for SH3TC2 Gene

(2) SIMAP similar genes for SH3TC2 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with SH3TC2: view

Variants for SH3TC2 Gene

Sequence variations from dbSNP and Humsavar for SH3TC2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs80338925 Pathogenic, Charcot-Marie-Tooth disease 4C (CMT4C) [MIM:601596] 149,027,763(-) TTGCC(A/G)AGCGC reference, missense
rs80338926 Pathogenic, Charcot-Marie-Tooth disease 4C (CMT4C) [MIM:601596] 149,027,760(-) CCGAG(C/T)GCCTG reference, missense
rs80359890 Pathogenic, Mononeuropathy of the median nerve mild (MNMN) [MIM:613353] 149,042,718(+) CAGGT(A/G)TATTG reference, missense
rs863224454 Charcot-Marie-Tooth disease 4C (CMT4C) [MIM:601596]
rs200728983 Pathogenic 149,007,044(+) CCAGG(A/C/T)GGTGA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SH3TC2 Gene

Variant ID Type Subtype PubMed ID
nsv955858 CNV deletion 24416366
nsv830517 CNV gain 17160897
nsv819535 CNV gain 19587683
nsv508383 CNV deletion 20534489
nsv329604 CNV deletion 16902084
nsv1149180 CNV deletion 26484159
nsv1140578 CNV deletion 24896259
nsv1073922 CNV deletion 25765185
esv4454 CNV loss 18987735
esv4129 CNV loss 18987735
esv3566797 CNV deletion 23714750
esv2730902 CNV deletion 23290073
esv2730901 CNV deletion 23290073
esv2730900 CNV deletion 23290073
esv2674393 CNV deletion 23128226
esv1942686 CNV deletion 18987734
dgv3189n106 CNV deletion 24896259

Variation tolerance for SH3TC2 Gene

Residual Variation Intolerance Score: 79.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.77; 73.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SH3TC2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SH3TC2 Gene

Disorders for SH3TC2 Gene

MalaCards: The human disease database

(15) MalaCards diseases for SH3TC2 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, type 4c
  • charcot-marie-tooth disease type 4c
mononeuropathy of the median nerve, mild
  • mononeuropathy of the median nerve mild
neuropathy, congenital hypomyelinating
  • dejerine-sottas disease
congenital hypomyelination neuropathy
  • charcot-marie-tooth disease type 4e
charcot-marie-tooth disease
  • charcot marie tooth muscular atrophy
- elite association - COSMIC cancer census association via MalaCards


  • Charcot-Marie-Tooth disease 4C (CMT4C) [MIM:601596]: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4C is characterized by onset in childhood, early-onset scoliosis and a distinct Schwann cell pathology. {ECO:0000269 PubMed:14574644}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mononeuropathy of the median nerve mild (MNMN) [MIM:613353]: A disease characterized by median nerve mononeuropathy at the wrist. The clinical presentation ranges from a mild phenotype, consistent with carpal tunnel syndrome, to a severe median nerve mononeuropathy at the wrist associated with evidence of a more widespread axonal polyneuropathy. The latter phenotype is similar to that of patients with hereditary neuropathy with liability to pressure palsies. {ECO:0000269 PubMed:20220177}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SH3TC2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SH3TC2: view

No data available for Genatlas for SH3TC2 Gene

Publications for SH3TC2 Gene

  1. Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. (PMID: 14574644) Senderek J … Zerres K (American journal of human genetics 2003) 2 3 4 60
  2. Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C. (PMID: 20028792) Roberts RC … Luzio JP (Human molecular genetics 2010) 3 22 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 45 60
  5. The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy. (PMID: 19272779) Houlden H … Reilly MM (Neuromuscular disorders : NMD 2009) 3 22 60

Products for SH3TC2 Gene

Sources for SH3TC2 Gene

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