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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SH3TC2 Gene

protein-coding GIFtS: 53
GCID: GC05M148303

SH3 domain and tetratricopeptide repeats 2

Explore 20 diseases affiliated with
SH3TC2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
SH3 Domain And Tetratricopeptide Repeats 2¹ ²
KIAA1985¹ ³ ⁵
CMT4C¹ ²
MNMN² ⁵
SH3 Domain And Tetratricopeptide Repeat-Containing Protein 2²
SH3 Domain And Tetratricopeptide Repeats-Containing Protein 2²

External Ids:	HGNC: 29427¹	Entrez Gene: 79628²	Ensembl: ENSG00000169247⁷	OMIM: 608206⁵	UniProtKB: Q8TF17³

Export aliases for SH3TC2 gene to outside databases

Previous GC identifers: GC05M148365 GC05M143506

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SH3TC2:

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 Wiki entry for SH3TC2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_029289.11

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SH3TC2 gene promoter:
SREBP-1c Olf-1 LCR-F1 SREBP-1b PPAR-gamma1 SREBP-1a POU2F1 POU2F1a FOXO4 PPAR-gamma2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SH3TC2 promoter sequence

Search SABiosciences Chromatin IP Primers for SH3TC2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SH3TC2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q32 Ensembl cytogenetic band: 5q32 HGNC cytogenetic band: 5q32

SH3TC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SH3TC2 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05M148303: view genomic region (about GC identifiers)

Start:	148,303,202 bp from pter	End:	148,442,737 bp from pter
Size:	139,536 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: S3TC2_HUMAN, Q8TF17 (See protein sequence)

Recommended Name: SH3 domain and tetratricopeptide repeat-containing protein 2

Size: 1288 amino acids; 144777 Da

Secondary accessions: B3KWE5 Q14CF5 Q9H8I5

Alternative splicing: 4 isoforms: Q8TF17-1 Q8TF17-2 Q8TF17-3 Q8TF17-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SH3TC2: NX_Q8TF17

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8TF17

SH3TC2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_078853.2

ENSEMBL proteins:

ENSP00000425627 ENSP00000313025 ENSP00000421779 ENSP00000421092 ENSP00000423940

ENSP00000423660 ENSP00000421860 ENSP00000423111 ENSP00000421420 ENSP00000441427

ENSP00000377886

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	Uscn Proteins for SH3TC2

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	IEA	--
GO:0055037	recycling endosome	IEA	--

SH3TC2 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SH3TC2 for domains About GeneDecksing

4 InterPro domains/families:

IPR001440 TPR-1

IPR011990 TPR-like_helical

IPR001452 SH3_domain

IPR019734 TPR_repeat

Graphical View of Domain Structure for InterPro Entry Q8TF17

ProtoNet protein and cluster: Q8TF17

UniProtKB/Swiss-Prot: S3TC2_HUMAN, Q8TF17

Similarity: Contains 1 SH3 domain

Similarity: Contains 8 TPR repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SH3TC2
		8/112 QIAGEN miScript miRNA Assays for microRNAs that regulate SH3TC2 (see all 112):
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH3TC2

2 GenomeRNAi human phenotypes for SH3TC2:

Increased gamma-H2AX phosphory

Synthetic lethal with Ras

Animal Models:
3 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Sh3tc2):

behavior/neurological

nervous system

skeleton

SH3TC2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for SH3TC2

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for SH3TC2 (ENSP00000313025⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HDAC7	ENSP00000080059⁴	STRING: ENSP00000080059

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0032287	peripheral nervous system myelin maintenance	IEA	--

SH3TC2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SH3TC2
Search CenterWatch for drugs/clinical trials and news about SH3TC2 / S3TC2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SH3TC2 gene:

NM_024577.3

Unigene Cluster for SH3TC2:

SH3 domain and tetratricopeptide repeats 2

Hs.483784 [show with all ESTs]

Unigene Representative Sequence: NM_024577

17 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000504690(uc003lpp.1) ENST00000510350 ENST00000323829(uc010jgw.3 uc003lps.3 uc003lpt.3 uc010jgx.3 uc003lpu.3)

ENST00000515229 ENST00000504517 ENST00000502274 ENST00000510779 ENST00000515425

ENST00000512049 ENST00000513604(uc003lpv.1 uc011dbz.1) ENST00000511307

ENST00000513340 ENST00000503071 ENST00000511949 ENST00000504091(uc003lpw.1)

ENST00000538184 ENST00000394358

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		8/112 QIAGEN miScript miRNA Assays for microRNAs that regulate SH3TC2 (see all 112):
		hsa-miR-576-3p hsa-miR-607 hsa-miR-3938 hsa-miR-631 hsa-miR-146a hsa-miR-605 hsa-miR-877* hsa-miR-3161

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Additional cDNA sequence:

AF086088.1 AK023641.1 AK092408.1 AK127050.1 AK127241.1 AK127442.1 AK128209.1 AK300420.1

AK309932.1 AY341075.1 BC113879.1 BC114486.1

10 DOTS entries:

DT.307356 DT.70104572 DT.91661178 DT.100754247 DT.100754249 DT.101982714 DT.91801423 DT.212092

DT.101976202 DT.40243531

24/113 AceView cDNA sequences (see all 113):

BI054444 AJ131725 CB141690 AJ519673 BM552239 Y12505 AJ278982 NM_199453

Y09586 Y13584 BX283793 AK124854 AI033298 BE302852 BC074755 CF147797

Y10437 BF509449 AJ011371 AK127050 BQ213149 AJ633645 Z48150 AJ278979

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for SH3TC2 (see all 8) About this scheme

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:																					-

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

ECgene alternative splicing isoforms for SH3TC2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SH3TC2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

SH3TC2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Extraembryonic endoderm-like cells (Generation of extrae...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SH3TC2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SH3TC2

SOURCE GeneReport for Unigene cluster: Hs.483784

UniProtKB/Swiss-Prot: S3TC2_HUMAN, Q8TF17

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

nerve. Weakly expressed in striated muscle

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for SH3TC2 gene from 4/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Sh3tc2^{1 , 5}	SH3 domain and tetratricopeptide repeats 2^{1, 5}	82.98(n)¹ 81.74(a)¹		18 (34.78 cM)⁵ 225608¹ NM_172628.2¹ NP_766216.2¹ 61953075⁵
chicken (Gallus gallus)	Aves	SH3TC2¹	SH3 domain and tetratricopeptide repeats 2	62.76(n) 55.15(a)		426627 XM_424256.3 XP_424256.3
lizard (Anolis carolinensis)	Reptilia	SH3TC2⁶	--	54(a)	1 ↔ 1	2(123140412-123163471)
zebrafish (Danio rerio)	Actinopterygii	sh3tc2¹	SH3 domain and tetratricopeptide repeats 2	51.69(n) 44.03(a)		100317983 XM_002664431.2 XP_002664477.2

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SH3TC2 gene

SH3TC1²

2 SIMAP similar genes for SH3TC2 using alignment to 9 protein entries: S3TC2_HUMAN (see all proteins):

SH3TC1 FLJ00164

SH3TC2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs80359890^1,2	C,F	pathogenic	156996933(-)	`CAGGTA/C/G/T TATTG`	4	N H D Y	mis¹		2		NA EU	5875
rs80338923^1,2	C	pathogenic	157011505(-)	`TGCCCA/GTCTCT`	2	H R	mis¹		0	--	--	--	--
rs80338925^1,2	C	pathogenic	157011888(-)	`TTGCCA/GAGCGC`	2	K E	mis¹		0	--	--	--	--
rs80338931^1,2	C,F	pathogenic	157012629(-)	`CTGTAC/TGACTC`	2	R *	stg¹		1		NA	4552
rs80338932^1,2	C	pathogenic	157012748(-)	`TGTTAT/GGAAAT`	2	/* /Y	stg¹		1		NA	4550
rs80338933^1,2	C,F	pathogenic	157012779(-)	`ATGTCA/C/G/T ATGCC`	4	R G *	syn¹ mis¹ stg¹		2		NA EU	5875
rs80338934^1,2	C	pathogenic	157029364(-)	`ACTACC/TGAGTA`	2	R *	stg¹		1		NA	4552
rs57729148^1,2		--	143507137(+)	`GCATTG/ATAGGA`	1	--	ut3¹		1		EA	120
rs6890482^1,2	C,F,H,	--	143507773(+)	`actgaC/Tgcagc`	1	--	ut3¹		4		NS EA	420
rs59731646^1,2	C,	--	143508087(+)	`GTTTTT/CCAAAT`	1	--	ut3¹		2		CSA WA	120

HapMap Linkage Disequilibrium report for SH3TC2 (148303202 - 148442737 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for SH3TC2
5 Indels: 41571 59244 46787 40808 41375
Human Gene Mutation Database (HGMD): SH3TC2

Locus Specific Mutation Databases (LSDB): SH3TC2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SH3TC2

DNA2.0 Custom Variant and Variant Library Synthesis for SH3TC2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SH3TC2 for disorders           About GeneDecksing

OMIM gene information: 608206
OMIM disorders: 601596  613353
UniProtKB/Swiss-Prot: S3TC2_HUMAN, Q8TF17

Defects in SH3TC2 are the cause of Charcot-Marie-Tooth disease type 4C (CMT4C) [MIM:601596]. CMT4C is a

recessive form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system.

Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and

histopathology: primary peripheral demyelinating neuropathy and primary peripheral axonal neuropathy. Demyelinating

CMT 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

Defects in SH3TC2 are the cause of 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

20 diseases for SH3TC2: About MalaCards

charcot-marie-tooth disease type 4 charcot-marie-tooth disease charcot-marie-tooth neuropathy type 4 charcot-marie-tooth neuropathy

charcot-marie-tooth neuropathy type 4c tooth disease mononeuropathy of the median nerve, mild hereditary neuropathy with liability to pressure palsy

hereditary neuropathy with liability to pressure palsies mononeuropathy carpal tunnel syndrome motor peripheral neuropathy

hereditary neuropathies neuropathy peripheral neuropathy neurodegenerative disease

axonal neuropathy scoliosis polyneuropathy neuronitis

2 diseases from the University of Copenhagen DISEASES database for SH3TC2:

Neuropathy Myopathy

GeneTests: SH3TC2

Charcot-Marie-Tooth Neuropathy Type 4C

Charcot-Marie-Tooth Neuropathy Type 4

Human Genome Epidemiology (HuGE) Navigator: SH3TC2 (4 documents)

Export disorders for SH3TC2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SH3TC2 gene, integrated from 9 sources (see all 24):
(articles sorted by number of sources associating them with SH3TC2)

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Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. (PubMed id 14574644)^{1, 2, 3} Senderek J.... Zerres K. (2003)
Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)^{1, 2} Wan D....Gu J. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PubMed id 11853319)^{1, 2} Nagase T.... Ohara O. (2001)
Mistargeting of SH3TC2 away from the recycling endoso me causes Charcot-Marie-Tooth disease type 4C. (PubMed id 20028792)^{1, 9} Roberts R.C....Luzio J.P. (2010)
Missense mutations in the SH3TC2 protein causing Char cot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway. (PubMed id 19744956)^{1, 9} Lupo V....EspinA^s C. (2009)
The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy. (PubMed id 19272779)^{1, 9} Houlden H....Reilly M.M. (2009)
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster. (PubMed id 18511281)^{1, 9} Gosselin I....Brais B. (2008)
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. (PubMed id 17470135)^{1, 9} Claramunt R....Espinos C. (2007)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 79628	HGNC: 29427	AceView: HTR4andKIAA1985	Ensembl:ENSG00000169247	euGenes: HUgn79628
ECgene: SH3TC2	H-InvDB: SH3TC2

(According to HUGE)
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HUGE: KIAA1985

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SH3TC2	Pharmacogenomics, SNPs, Pathways
Inherited peripheral neuropathies mutation db	http://www.molgen.ua.ac.be/CMTMutations/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SH3TC2

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SH3 domain and tetratricopeptide repeats 2

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SH3 domain and tetratricopeptide repeats 2

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