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Aliases for SH3TC2 Gene

Aliases for SH3TC2 Gene

  • SH3 Domain And Tetratricopeptide Repeats 2 2 3
  • KIAA1985 4 6
  • MNMN 3 6
  • SH3 Domain And Tetratricopeptide Repeats-Containing Protein 2 3
  • SH3 Domain And Tetratricopeptide Repeat-Containing Protein 2 3
  • CMT4C 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

No data available for 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

Genomic Location for SH3TC2 Gene

Start:
148,923,639 bp from pter
End:
149,063,174 bp from pter
Size:
139,536 bases
Orientation:
Minus strand

Genomic View for SH3TC2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q8TF17-S3TC2_HUMAN
    Recommended name:
    SH3 domain and tetratricopeptide repeat-containing protein 2
    Protein Accession:
    Q8TF17
    Secondary Accessions:
    • B3KWE5
    • Q14CC0
    • Q14CF5
    • Q9H8I5

    Protein attributes for SH3TC2 Gene

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

    Alternative splice isoforms for SH3TC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SH3TC2 Gene

Proteomics data for SH3TC2 Gene at MOPED

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 for SH3TC2 Gene

Gene Families for SH3TC2 Gene

HGNC:
  • TTC :Tetratricopeptide (TTC) repeat domain containing

Protein Domains for SH3TC2 Gene

Suggested Antigen Peptide Sequences for SH3TC2 Gene

Graphical View of Domain Structure for InterPro Entry

Q8TF17

UniProtKB/Swiss-Prot:

S3TC2_HUMAN :
  • Q8TF17
Domain:
  • Contains 1 SH3 domain.
Similarity:
  • Contains 8 TPR repeats.
genes like me logo Genes that share domains with SH3TC2: view

Function for SH3TC2 Gene

Gene Ontology (GO) - Molecular Function for SH3TC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with SH3TC2: view

Phenotypes for SH3TC2 Gene

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

Animal Model Products

CRISPR Products

miRNA for SH3TC2 Gene

miRTarBase miRNAs that target SH3TC2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SH3TC2

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SH3TC2 Gene

Localization for SH3TC2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SH3TC2 Gene COMPARTMENTS Subcellular localization image for SH3TC2 gene
Compartment Confidence
cytosol 3
endosome 2
nucleus 2
plasma membrane 2
cytoskeleton 1

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 for SH3TC2 Gene

SuperPathways for SH3TC2 Gene

No Data Available

Interacting Proteins for SH3TC2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000423660%0d%0a9606.ENSP00000080059%0d%0a
Selected Interacting proteins: ENSP00000423660 for SH3TC2 Gene via STRING

Symbol External ID(s) Details
HDAC7

Gene Ontology (GO) - Biological Process for SH3TC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008219 cell death --
GO:0022011 myelination in peripheral nervous system --
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 for SH3TC2 Gene

Transcripts for SH3TC2 Gene

Unigene Clusters for SH3TC2 Gene

SH3 domain and tetratricopeptide repeats 2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SH3TC2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for SH3TC2

Flow Cytometry 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: - -
SP7:
SP8:

ExUns: 17b · 17c ^ 18a · 18b · 18c ^ 19
SP1:
SP2: - - -
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:

Relevant External Links for SH3TC2 Gene

GeneLoc Exon Structure for
SH3TC2
ECgene alternative splicing isoforms for
SH3TC2

Expression for SH3TC2 Gene

mRNA expression in normal human tissues 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) (8.2), Brain - Substantia nigra (5.1), and Nerve - Tibial (4.5).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for SH3TC2 Gene

SOURCE GeneReport for Unigene cluster for SH3TC2 Gene Hs.483784

mRNA Expression by UniProt/SwissProt for SH3TC2 Gene

Q8TF17-S3TC2_HUMAN
Tissue specificity: Strongly expressed in brain and spinal cord. Expressed at equal level in spinal cord and sciatic nerve. Weakly expressed in striated muscle.
genes like me logo Genes that share expressions with SH3TC2: view

In Situ Assay Products

Orthologs for SH3TC2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SH3TC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SH3TC2 35
  • 99.56 (n)
  • 99.61 (a)
SH3TC2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SH3TC2 35
  • 88.38 (n)
  • 87.66 (a)
SH3TC2 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SH3TC2 35
  • 88.33 (n)
  • 87.24 (a)
SH3TC2 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sh3tc2 35
  • 82.96 (n)
  • 81.66 (a)
Sh3tc2 16
Sh3tc2 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SH3TC2 36
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SH3TC2 36
  • 44 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sh3tc2 35
  • 83.06 (n)
  • 81.35 (a)
chicken
(Gallus gallus)
Aves SH3TC2 35
  • 63.48 (n)
  • 55.63 (a)
SH3TC2 36
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SH3TC2 36
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sh3tc2 35
  • 54.47 (n)
  • 46.85 (a)
zebrafish
(Danio rerio)
Actinopterygii sh3tc2 35
  • 51.53 (n)
  • 43.57 (a)
sh3tc2 36
  • 36 (a)
OneToMany
sh3tc2 36
  • 38 (a)
OneToMany
Species with no ortholog for SH3TC2:
  • 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

ENSEMBL:
Gene Tree for SH3TC2 (if available)
TreeFam:
Gene Tree for SH3TC2 (if available)

Paralogs for SH3TC2 Gene

Paralogs for SH3TC2 Gene

Selected 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 MAF
rs28173 -- 149,044,010(-) GCAGC(A/G)TCAGT intron-variant
rs36042 -- 149,060,219(-) AAAAA(A/C)TTCTA intron-variant
rs36066 -- 149,040,208(-) TTCCC(C/T)TAGAG intron-variant
rs36067 -- 149,037,990(-) CCCAC(A/C)CTGTC intron-variant
rs36068 -- 149,037,949(-) CACAC(A/G)GGGAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv508383 CNV Loss 20534489
nsv830517 CNV Gain 17160897
nsv819535 CNV Gain 19587683
esv2730900 CNV Deletion 23290073
esv4129 CNV Deletion 18987735
nsv329604 CNV Loss 16902084
esv2730901 CNV Deletion 23290073
esv1942686 CNV Deletion 18987734
esv4454 CNV Deletion 18987735
esv2730902 CNV Deletion 23290073
esv2674393 CNV Deletion 23128226

Relevant External Links for SH3TC2 Gene

HapMap Linkage Disequilibrium report
SH3TC2
Human Gene Mutation Database (HGMD)
SH3TC2
Locus Specific Mutation Databases (LSDB)
SH3TC2

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

Disorders for SH3TC2 Gene

(2) OMIM Diseases for SH3TC2 Gene (608206)

UniProtKB/Swiss-Prot

S3TC2_HUMAN
  • 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.

(2) University of Copenhagen DISEASES for SH3TC2 Gene

Relevant External Links for SH3TC2

GeneTests
SH3TC2
GeneReviews
SH3TC2
Genetic Association Database (GAD)
SH3TC2
Human Genome Epidemiology (HuGE) Navigator
SH3TC2
genes like me logo Genes that share disorders with SH3TC2: view

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. (Am. J. Hum. Genet. 2003) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D. … Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4
  5. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 48

Products for SH3TC2 Gene

Sources for SH3TC2 Gene

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