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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 characteri... See more...
Aliases for SH3TC2 Gene
Aliases for SH3TC2 Gene
External Ids for SH3TC2 Gene
- HGNC: 29427
- NCBI Entrez Gene: 79628
- Ensembl: ENSG00000169247
- OMIM®: 608206
- UniProtKB/Swiss-Prot: Q8TF17
Previous GeneCards Identifiers for SH3TC2 Gene
- GC05M148365
- GC05M143506
- GC05M148303
Summaries 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.
Additional gene information for SH3TC2 Gene
- HGNC (29427)
- NCBI Entrez Gene (79628)
- Ensembl (ENSG00000169247)
- OMIM® (608206)
- UniProtKB/Swiss-Prot (Q8TF17)
- Open Targets Platform(ENSG00000169247)
- Monarch Initiative
- Search for SH3TC2 at DataMed
- Search for SH3TC2 at HumanCyc
No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SH3TC2 Gene
Genomics for SH3TC2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SH3TC2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SH3TC2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SH3TC2
- Top Transcription factor binding sites by QIAGEN in the SH3TC2 gene promoter:
-
- FOXO4
- LCR-F1
- Olf-1
- POU2F1
- POU2F1a
- PPAR-gamma1
- PPAR-gamma2
- SREBP-1a
- SREBP-1b
- SREBP-1c
Genomic Locations for SH3TC2 Gene
Latest Assembly
- chr5:148,923,639-149,063,163
- (GRCh38/hg38)
- Size:
- 139,525 bases
- Orientation:
- Minus strand
Previous Assembly
- chr5:148,361,713-148,442,625
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 80,913 bases
- Orientation:
- Minus strand
- chr5:148,303,202-148,442,726
- (GRCh37/hg19 by Ensembl)
- Size:
- 139,525 bases
- Orientation:
- Minus strand
Genomic View for SH3TC2 Gene
Genes around SH3TC2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q32 by HGNC
- 5q32 by Entrez Gene
- 5q32 by Ensembl
SH3TC2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- B3KWE5
- Q14CC0
- Q14CF5
- Q9H8I5
Protein attributes for SH3TC2 Gene
- Size:
- 1288 amino acids
- Molecular mass:
- 144777 Da
- Quaternary structure:
- No Data Available
Protein Expression for SH3TC2 Gene
Post-translational modifications for SH3TC2 Gene
Other Protein References for SH3TC2 Gene
Antibodies for research
- G Biosciences Immunotag™ SH3TC2 Antibody
- Novus Biologicals Antibodies for SH3TC2
- Invitrogen Antibodies for SH3TC2 (AFLGC-SH3TC2)
-
Biorbyt antibodies for SH3TC2
-
Boster Bio Antibodies for SH3TC2
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SH3TC2
- Origene Custom Protein Services for SH3TC2
- Novus Biologicals proteins for SH3TC2
Assay products for research
No data available for DME Specific Peptides for SH3TC2 Gene
Domains & Families for SH3TC2 Gene
Gene Families for SH3TC2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for SH3TC2 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SH3TC2 Gene
- GenScript: Design optimal peptide antigens:
-
- SH3 domain and tetratricopeptide repeats-containing protein 2 (S3TC2_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SH3TC2 Gene
Function for SH3TC2 Gene
Phenotypes From GWAS Catalog for SH3TC2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IEA | -- |
Phenotypes for SH3TC2 Gene
- MGI mutant phenotypes for SH3TC2:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for SH3TC2:
Animal Models for SH3TC2 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SH3TC2 - Starting at $85 >
- * SH3TC2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SH3TC2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SH3TC2
-
Santa Cruz Biotechnology (SCBT) CRISPR for SH3TC2
miRNA for SH3TC2 Gene
- miRTarBase miRNAs that target SH3TC2
-
- hsa-miR-335-5p (MIRT017312)
- hsa-miR-1-3p (MIRT023599)
- hsa-miR-6869-5p (MIRT444372)
- hsa-miR-6858-5p (MIRT444373)
- hsa-miR-4689 (MIRT444374)
- hsa-miR-3915 (MIRT444375)
- hsa-miR-1224-5p (MIRT444376)
- hsa-miR-496 (MIRT444377)
- hsa-miR-4784 (MIRT444378)
- hsa-miR-3150b-3p (MIRT444379)
- hsa-miR-380-3p (MIRT444380)
- hsa-miR-411-3p (MIRT444381)
- hsa-miR-379-3p (MIRT444382)
- hsa-miR-4495 (MIRT444383)
- hsa-miR-6888-5p (MIRT444384)
- hsa-miR-4697-3p (MIRT468097)
- hsa-miR-6801-5p (MIRT468098)
- hsa-miR-6883-5p (MIRT468099)
- hsa-miR-6785-5p (MIRT468100)
- hsa-miR-4728-5p (MIRT468101)
- hsa-miR-149-3p (MIRT468102)
- hsa-miR-6739-5p (MIRT468103)
- hsa-miR-6733-5p (MIRT468104)
- hsa-miR-6124 (MIRT468105)
- hsa-miR-3153 (MIRT468106)
- hsa-miR-194-3p (MIRT468107)
- hsa-miR-5693 (MIRT468108)
- hsa-miR-6718-5p (MIRT468109)
- hsa-miR-203b-5p (MIRT468110)
- hsa-miR-4756-5p (MIRT468111)
- hsa-miR-4739 (MIRT468112)
- hsa-miR-1321 (MIRT468113)
- hsa-miR-4659b-3p (MIRT526327)
- hsa-miR-4659a-3p (MIRT526328)
- hsa-miR-6875-3p (MIRT526329)
- hsa-miR-5006-3p (MIRT526330)
- hsa-miR-4755-5p (MIRT526331)
- hsa-miR-4452 (MIRT526332)
- hsa-miR-3678-3p (MIRT526333)
- hsa-miR-6868-3p (MIRT526334)
- hsa-miR-183-3p (MIRT526335)
- hsa-miR-2467-3p (MIRT526336)
- hsa-miR-623 (MIRT526337)
- hsa-miR-1909-5p (MIRT526338)
- hsa-miR-6780b-3p (MIRT526339)
- hsa-miR-4780 (MIRT526340)
- hsa-miR-3938 (MIRT526341)
- hsa-miR-3174 (MIRT526342)
- hsa-miR-335-3p (MIRT616353)
- hsa-miR-30e-3p (MIRT616354)
- hsa-miR-30d-3p (MIRT616355)
- hsa-miR-30a-3p (MIRT616356)
- hsa-miR-3942-3p (MIRT616357)
- hsa-miR-5100 (MIRT616358)
- hsa-miR-10b-3p (MIRT616359)
- hsa-miR-510-3p (MIRT622262)
- hsa-miR-6873-3p (MIRT622263)
- hsa-miR-3156-3p (MIRT622264)
- hsa-miR-4653-5p (MIRT622265)
- hsa-miR-3921 (MIRT622266)
- hsa-miR-301b-5p (MIRT622267)
- hsa-miR-301a-5p (MIRT622268)
- hsa-miR-146a-3p (MIRT622269)
- hsa-miR-7110-3p (MIRT622270)
- hsa-miR-532-3p (MIRT622271)
- hsa-miR-4301 (MIRT622272)
- hsa-miR-6777-3p (MIRT622273)
- hsa-miR-4639-3p (MIRT622274)
- hsa-miR-574-5p (MIRT622275)
- hsa-miR-4455 (MIRT622276)
- hsa-miR-8061 (MIRT622277)
- hsa-miR-4760-5p (MIRT622278)
- hsa-miR-4677-5p (MIRT622279)
- hsa-miR-22-5p (MIRT622280)
- hsa-miR-2116-5p (MIRT622281)
- hsa-miR-124-5p (MIRT622282)
- hsa-miR-6867-5p (MIRT622283)
- hsa-miR-5694 (MIRT625215)
- hsa-miR-383-5p (MIRT625216)
- hsa-miR-190a-3p (MIRT625217)
- hsa-miR-5011-5p (MIRT625218)
- hsa-miR-4789-3p (MIRT625219)
- hsa-miR-5580-3p (MIRT628576)
- hsa-miR-8485 (MIRT628577)
- hsa-miR-3646 (MIRT628578)
- hsa-miR-3662 (MIRT628579)
- hsa-miR-1305 (MIRT712800)
- hsa-miR-607 (MIRT712801)
- hsa-miR-4715-3p (MIRT712802)
- hsa-miR-3064-3p (MIRT712803)
- hsa-miR-3671 (MIRT712804)
- hsa-miR-8068 (MIRT712805)
- hsa-miR-1282 (MIRT712806)
- hsa-miR-5707 (MIRT712807)
- hsa-miR-132-3p (MIRT762538)
- hsa-miR-212-3p (MIRT763824)
- hsa-miR-4725-5p (MIRT771641)
- hsa-miR-5009-3p (MIRT772964)
- hsa-miR-545-5p (MIRT774027)
- hsa-miR-5692a (MIRT775018)
- hsa-miR-577 (MIRT775289)
- hsa-miR-6808-3p (MIRT779638)
- hsa-miR-6818-5p (MIRT779844)
- hsa-miR-7973 (MIRT782270)
- hsa-miR-1296-5p (MIRT783649)
- hsa-miR-2909 (MIRT784372)
- hsa-miR-3179 (MIRT784744)
- hsa-miR-3936 (MIRT785469)
- hsa-miR-4436b-3p (MIRT785870)
- hsa-miR-452-3p (MIRT786097)
- hsa-miR-4632-5p (MIRT786237)
- hsa-miR-4738-3p (MIRT786580)
- hsa-miR-4761-3p (MIRT786644)
- hsa-miR-4766-5p (MIRT786663)
- hsa-miR-6735-5p (MIRT788498)
- hsa-miR-6870-3p (MIRT789237)
- hsa-miR-6879-5p (MIRT789279)
- hsa-miR-7154-5p (MIRT789439)
- hsa-miR-7843-5p (MIRT789556)
- hsa-miR-8060 (MIRT789771)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SH3TC2
- Browse OriGene Inhibitory RNA Products For SH3TC2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SH3TC2
Clone products for research
- Applied Biological Materials (abm): Clones for SH3TC2 - Starting at $45 >
- * SH3TC2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for SH3TC2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SH3TC2
Cell Lines for research
-
Horizon Cell Lines for SH3TC2
No data available for Molecular function , Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SH3TC2 Gene
Localization for SH3TC2 Gene
| Compartment | Confidence |
|---|---|
| plasma membrane | 3 |
| nucleus | 3 |
| cytosol | 3 |
| endosome | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0031410 | cytoplasmic vesicle | IEA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for SH3TC2 Gene
Pathways & Interactions 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 | -- |
No data available for Pathways by source and SIGNOR curated interactions for SH3TC2 Gene
Transcripts for SH3TC2 Gene
mRNA/cDNA for SH3TC2 Gene
- 1 REFSEQ mRNAs :
- 19 NCBI additional mRNA sequence :
- 21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000323829 7324 nts (view in UCSC)
- ENST00000502274 5474 nts (view in UCSC)
- ENST00000503071 570 nts (view in UCSC)
- ENST00000504091 4522 nts (view in UCSC)
- ENST00000504517 4153 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SH3TC2 - Starting at $85 >
- * SH3TC2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SH3TC2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SH3TC2
-
Santa Cruz Biotechnology (SCBT) CRISPR for SH3TC2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SH3TC2
- Browse OriGene Inhibitory RNA Products For SH3TC2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SH3TC2
Clone products for research
- Applied Biological Materials (abm): Clones for SH3TC2 - Starting at $45 >
- * SH3TC2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for SH3TC2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SH3TC2
| 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
Expression for SH3TC2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Bone (Muscoskeletal System)
-
Blood (Hematopoietic System)
- Proerythroblasts Hematopoietic Bone Marrow
-
Testis (Reproductive System)
- Pre-Sertoli Cells Testis Cord
-
Brain (Nervous System)
- Myelinating Oligodendrocyte Cells Forebrain White Matter
-
Glial Cells
- Myelinating Oligodendrocyte Cells Forebrain White Matter
-
Adipose (Muscoskeletal System)
- Mesenchymal Stem Cells Subcutaneous White Adipose
-
Mesenchymal Stem Cells
- Mesenchymal Stem Cells Subcutaneous White Adipose
-
Placenta (Extraembryonic Tissues)
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).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SH3TC2
SOURCE GeneReport for Unigene cluster for SH3TC2 Gene:
Hs.483784mRNA 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.
Evidence on tissue expression from TISSUES for SH3TC2 Gene
- Nervous system(4.8)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SH3TC2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- eye
- face
- head
- mouth
- tongue
Thorax:
- lung
- rib
- rib cage
Pelvis:
- pelvis
Limb:
- arm
- foot
- forearm
- hand
- lower limb
- shin
- thigh
- upper limb
General:
- peripheral nerve
- peripheral nervous system
- spinal column
- spinal cord
- vertebrae
Primer products for research
-
OriGene qPCR primer pairs for SH3TC2
Gene Expression Assays for research
Orthologs for SH3TC2 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SH3TC2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SH3TC2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SH3TC2 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Sh3tc2 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Sh3tc2 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SH3TC2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SH3TC2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SH3TC2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SH3TC2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sh3tc2 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | sh3tc2 30 31 31 |
|
OneToMany |
- Species where no ortholog for SH3TC2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for SH3TC2: view image
Paralogs for SH3TC2 Gene
Variants for SH3TC2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SH3TC2 Gene
| SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 833911 | Conflicting Interpretations: Charcot-Marie-Tooth disease type 4; not provided | 149,026,989(-) |
T/A NM_024577.4(SH3TC2):c.2743A>T (p.Thr915Ser) |
MISSENSE | |
| 836169 | Uncertain Significance: Charcot-Marie-Tooth disease type 4 | 149,010,292(-) |
T/C NM_024577.4(SH3TC2):c.3305A>G (p.His1102Arg) |
MISSENSE | |
| 837335 | Uncertain Significance: Charcot-Marie-Tooth disease type 4 | 149,026,731(-) |
G/A NM_024577.4(SH3TC2):c.2894C>T (p.Ser965Phe) |
MISSENSE | |
| 838810 | Uncertain Significance: Charcot-Marie-Tooth disease type 4 | 149,038,463(-) |
C/A NM_024577.4(SH3TC2):c.833G>T (p.Gly278Val) |
MISSENSE | |
| 840555 | Uncertain Significance: Charcot-Marie-Tooth disease type 4 | 149,038,370(-) |
A/G NM_024577.4(SH3TC2):c.926T>C (p.Ile309Thr) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv3189n106 | CNV | deletion | 24896259 |
| esv1942686 | CNV | deletion | 18987734 |
| esv2674393 | CNV | deletion | 23128226 |
| esv2730900 | CNV | deletion | 23290073 |
| esv2730901 | CNV | deletion | 23290073 |
| esv2730902 | CNV | deletion | 23290073 |
| esv3566797 | CNV | deletion | 23714750 |
| esv4129 | CNV | loss | 18987735 |
| esv4454 | CNV | loss | 18987735 |
| nsv1073922 | CNV | deletion | 25765185 |
| nsv1140578 | CNV | deletion | 24896259 |
| nsv1149180 | CNV | deletion | 26484159 |
| nsv329604 | CNV | deletion | 16902084 |
| nsv508383 | CNV | deletion | 20534489 |
| nsv819535 | CNV | gain | 19587683 |
| nsv830517 | CNV | gain | 17160897 |
| nsv955858 | CNV | deletion | 24416366 |
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)
Additional Variant Information for SH3TC2 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SH3TC2 Gene
Disorders for SH3TC2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| charcot-marie-tooth disease, type 4c |
|
|
| mononeuropathy of the median nerve, mild |
|
|
| neuropathy, congenital hypomyelinating, 1, autosomal recessive |
|
|
| charcot-marie-tooth disease |
|
|
| mononeuropathy |
|
|
Search SH3TC2 in MalaCards
View complete list of genes associated with diseases
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 variants 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 variants affecting the gene represented in this entry.
Additional Disease Information for SH3TC2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for SH3TC2 Gene
Publications for SH3TC2 Gene
- 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 74
- 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 23 74
- Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster. (PMID: 18511281) Gosselin I … Brais B (Neuromuscular disorders : NMD 2008) 3 23 74
- Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. (PMID: 20220177) Lupski JR … Gibbs RA (The New England journal of medicine 2010) 4 74
- 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 23
ExternalLinks
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