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Gene

SH3TC2

SH3 domain and tetratricopeptide repeats 2

Summary

Cytogenetic location
5q32
Coordinates
Chromosome 5: 148,982,150–149,063,062 (GRCh38)
Exons
17 exons across 80.9 kb
Protein
1,288 amino acids
Also known as
KIAA1985, CMT4C
MANE Select transcript
ENST00000515425.6NM_024577.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Charcot-Marie-Tooth Disease

      • One of 62 genes linked to it

        A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.

        • ClinGen rates the link definitive
        • 3 GenCC submitters rate it definitive or strong
        What knowing changes

        Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features

    How SH3TC2 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 5, with a bracket where SH3TC2 sits. SH3TC2 and 8 genes near it on chromosome 5, from 148,522,606 to 149,522,605.Chromosome 55q32p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.3148.6 Mb148.8 Mb149 Mb149.2 Mb149.4 MbHTR4: 148,446,042–148,677,235, reverse strandHTR4ADRB2: 148,826,611–148,828,623, forward strandADRB2SH3TC2: 148,982,150–149,063,062, reverse strandSH3TC2ABLIM3: 149,141,362–149,260,542, forward strandABLIM3AFAP1L1: 149,271,786–149,343,637, forward strandAFAP1L1GRPEL2: 149,344,995–149,356,029, forward strandGRPEL2PCYOX1L: 149,357,998–149,369,653, forward strandPCYOX1LIL17B: 149,371,324–149,404,202, reverse strandIL17BCSNK1A1: 149,492,982–149,551,577, reverse strandCSNK1A1Diagram of SH3TC2: 17 exons on the reverse strand of chromosome 5Exon 16: 8 known disease-causing sitesExon 15: 5 known disease-causing sitesExon 14: 5 known disease-causing sitesExon 13: 5 known disease-causing sitesExon 12: 4 known disease-causing sitesExon 11: 65 known disease-causing sitesExon 9: 3 known disease-causing sitesExon 8: 9 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 6: 5 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 1: 2 known disease-causing sitesExon 17: 148,982,150–149,004,902, 22,753 basesExon 16: 149,006,881–149,007,077, 197 basesExon 15: 149,008,851–149,009,001, 151 basesExon 14: 149,010,270–149,010,392, 123 basesExon 13: 149,012,584–149,012,734, 151 basesExon 12: 149,026,572–149,026,752, 181 basesExon 11: 149,026,860–149,028,554, 1,695 basesExon 10: 149,028,677–149,028,718, 42 basesExon 9: 149,031,554–149,031,687, 134 basesExon 8: 149,038,295–149,038,490, 196 basesExon 7: 149,040,604–149,040,677, 74 basesExon 6: 149,041,416–149,041,617, 202 basesExon 5: 149,042,694–149,042,837, 144 basesExon 4: 149,044,533–149,044,638, 106 basesExon 3: 149,047,862–149,047,989, 128 basesExon 2: 149,052,142–149,052,240, 99 basesExon 1: 149,062,971–149,063,062, 92 bases1716141210864215′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 26.5 kb of the gene's 80.9 kb; 3,867 of those bases code for the protein.

    How a genome test reads SH3TC2

    149

    positions in SH3TC2 where ClinVar classes a change as pathogenic or likely pathogenic

    None of them falls in a region short reads find hard.

    A whole genome covers all 80.9 kb of SH3TC2, introns included, not only the 26.5 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). SH3TC2 gene: SH3 domain and tetratricopeptide repeats 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/sh3tc2

    Vancouver

    Dante Labs. SH3TC2 gene: SH3 domain and tetratricopeptide repeats 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/sh3tc2

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