U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

SH3TC2 SH3 domain and tetratricopeptide repeats 2 [ Homo sapiens (human) ]

Gene ID: 79628, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
SH3TC2provided by HGNC
Official Full Name
SH3 domain and tetratricopeptide repeats 2provided by HGNC
Primary source
HGNC:HGNC:29427
See related
Ensembl:ENSG00000169247 MIM:608206; AllianceGenome:HGNC:29427
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MNMN; CMT4C
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]
Expression
Biased expression in testis (RPKM 1.4), brain (RPKM 0.6) and 6 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
5q32
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (148982150..149063062, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (149516997..149597907, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (148361713..148442625, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986462 Neighboring gene 5-hydroxytryptamine receptor 4 Neighboring gene NANOG hESC enhancer GRCh37_chr5:148099086-148099657 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23365 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23366 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23368 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23369 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16491 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16492 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:148206489-148207074 Neighboring gene adrenoceptor beta 2 Neighboring gene MPRA-validated peak5531 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:148289701-148290900 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82030 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:148335980-148336552 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:148349629-148350210 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:148358305-148358824 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:148363540-148364739 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82036 Neighboring gene Sharpr-MPRA regulatory region 10809 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:148452563-148453762 Neighboring gene RNA, U6 small nuclear 732, pseudogene Neighboring gene SH3TC2 divergent transcript Neighboring gene microRNA 584 Neighboring gene RN7SK pseudogene 145

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Screening for SH3TC2 variants in Charcot-Marie-Tooth disease in a cohort of Chinese patients. Sun B, et al. Acta Neurol Belg, 2022 Oct. PMID 33587240
  2. Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants. Lerat J, et al. J Neurol Sci, 2019 Nov 15. PMID 31634715
  3. Compound heterozygous mutations of SH3TC2 in Charcot-Marie-Tooth disease type 4C patients. Lee AJ, et al. J Hum Genet, 2019 Sep. PMID 31227790
  4. Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot-Marie-Tooth disease reveals a varied and unusual phenotypic spectrum. Kontogeorgiou Z, et al. J Peripher Nerv Syst, 2019 Mar. PMID 30653784
  5. Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges. Jerath NU, et al. Muscle Nerve, 2018 May. PMID 28981955, Free PMC Article

See all (38) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Characterisation of Patients with SH3TC2 Associated Neuropathy in an Indian Cohort.
    Title: Characterisation of Patients with SH3TC2 Associated Neuropathy in an Indian Cohort.
  2. Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy.
    Title: Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy.
  3. Screening for SH3TC2 variants in Charcot-Marie-Tooth disease in a cohort of Chinese patients.
    Title: Screening for SH3TC2 variants in Charcot-Marie-Tooth disease in a cohort of Chinese patients.
  4. Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants.
    Title: Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants.
  5. Mutations in SH3TC2 are responsible for 26% of Greek patients with suspected CMT4C.
    Title: Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot-Marie-Tooth disease reveals a varied and unusual phenotypic spectrum.
  6. Compound heterozygous mutations of SH3TC2 in Charcot-Marie-Tooth disease type 4C patients.
    Title: Compound heterozygous mutations of SH3TC2 in Charcot-Marie-Tooth disease type 4C patients.
  7. This present clinical and physiologic features of 5 patients with CMT4C caused by biallelic private mutations of SH3TC2.
    Title: Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges.
  8. SH3TC2, PMP2, and BSCL2 pathogenic variants might be rare in Chinese Charcot-Marie-Tooth (CMT) patients.
    Title: Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth.
  9. In this series of undiagnosed CMT4 patients, SH3TC2 mutation frequency is 30%, confirming that CMT4C may be the most common AR-CMT type.
    Title: Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).
  10. Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive demyelinating form of CMT characterized clinically by early onset and severe spinal deformities, and is caused by mutations in SH3TC2.
    Title: Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C.
Submit: New GeneRIF Correction See all GeneRIFs (27)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

General gene information

Go to the top of the page Help

Markers

Potential readthrough

Included gene: HTR4

Homology

Clone Names

  • FLJ13605, KIAA1985

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in peripheral nervous system myelin maintenance IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of ERBB signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
SH3 domain and tetratricopeptide repeat-containing protein 2
Names
SH3 domain and tetratricopeptide repeats-containing protein 2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007947.2 RefSeqGene

    Range
    5001..86025
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_269

mRNA and Protein(s)

  1. NM_024577.4 → NP_078853.2  SH3 domain and tetratricopeptide repeat-containing protein 2

    See identical proteins and their annotated locations for NP_078853.2

    Status: REVIEWED

    Source sequence(s)
    AC011364, AC116312, AF086088, AY341075
    Consensus CDS
    CCDS4293.1
    UniProtKB/Swiss-Prot
    B3KWE5, Q14CC0, Q14CF5, Q8TF17, Q9H8I5
    UniProtKB/TrEMBL
    A0A514TP98, E9PDF1
    Related
    ENSP00000423660.1, ENST00000515425.6
    Conserved Domains (5) summary
    sd00006
    Location:1127 → 1154
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:834 → 906
    TPR_12; Tetratricopeptide repeat
    pfam00515
    Location:1168 → 1197
    TPR_1; Tetratricopeptide repeat
    pfam17874
    Location:811 → 1048
    TPR_MalT; MalT-like TPR region
    cl17036
    Location:272 → 326
    SH3; Src Homology 3 domain superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    148982150..149063062 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    149516997..149597907 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TF17.2 GenPept UniProtKB/Swiss-Prot:Q8TF17

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous