Skip to content
Use your HSA or FSA funds

Gene

SZT2

SZT2 subunit of KICSTOR complex

Summary

Cytogenetic location
1p34.2
Coordinates
Chromosome 1: 43,389,899–43,454,247 (GRCh38)
Exons
72 exons across 64.3 kb
Protein
3,432 amino acids
Also known as
FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A, KICS1
Previous symbols
C1orf84, KIAA0467
MANE Select transcript
ENST00000634258.3NM_001365999.1
Locus type
gene with protein product

Reference genomeGRCh38

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

Curated report relevant to this gene

    • Epilepsy (Full Panel)

      • Epilepsy

        One of 171 genes linked to it

        A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.

        • ClinGen rates the link definitive
        • 6 GenCC submitters rate it definitive or strong

    How SZT2 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 1, with a bracket where SZT2 sits. SZT2 and 16 genes near it on chromosome 1, from 42,922,073 to 43,922,072.Chromosome 11p34.2p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4443 Mb43.2 Mb43.4 Mb43.6 Mb43.8 MbSLC2A1: 42,925,353–42,958,904, reverse strandSLC2A1CFAP144: 43,145,153–43,156,396, forward strandCFAP144EBNA1BP2: 43,162,085–43,270,936, reverse strandEBNA1BP2CFAP57: 43,172,326–43,254,358, forward strandCFAP57TMEM125: 43,269,976–43,274,007, forward strandTMEM125C1orf210: 43,281,271–43,285,908, reverse strandC1orf210TIE1: 43,300,958–43,325,215, forward strandTIE1MPL: 43,337,808–43,354,466, forward strandMPLCDC20: 43,358,907–43,363,212, forward strandCDC20ELOVL1: 43,363,141–43,368,075, reverse strandELOVL1MED8: 43,383,906–43,389,823, reverse strandMED8SZT2: 43,389,899–43,454,247, forward strandSZT2HYI: 43,450,597–43,453,999, reverse strandHYIPTPRF: 43,525,086–43,626,579, forward strandPTPRFKDM4A: 43,649,256–43,705,518, forward strandKDM4A: 43,650,149–43,931,014, forward strandST3GAL3: 43,705,824–43,931,167, forward strandST3GAL3Diagram of SZT2: 72 exons on the forward strand of chromosome 1Exon 3: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 16: 1 known disease-causing siteExon 26: 1 known disease-causing siteExon 30: 1 known disease-causing siteExon 32: 2 known disease-causing sitesExon 37: 1 known disease-causing siteExon 38: 1 known disease-causing siteExon 40: 1 known disease-causing siteExon 41: 1 known disease-causing siteExon 42: 1 known disease-causing siteExon 43: 2 known disease-causing sitesExon 50: 1 known disease-causing siteExon 51: 2 known disease-causing sitesExon 53: 1 known disease-causing siteExon 55: 1 known disease-causing siteExon 58: 1 known disease-causing siteExon 61: 2 known disease-causing sitesExon 62: 2 known disease-causing sitesExon 65: 1 known disease-causing siteExon 66: 1 known disease-causing siteExon 68: 1 known disease-causing siteExon 69: 2 known disease-causing sitesExon 1: 43,389,899–43,389,995, 97 basesExon 2: 43,403,177–43,403,302, 126 basesExon 3: 43,403,601–43,403,774, 174 basesExon 4: 43,404,380–43,404,550, 171 basesExon 5: 43,415,082–43,415,213, 132 basesExon 6: 43,415,960–43,416,101, 142 basesExon 7: 43,416,535–43,416,641, 107 basesExon 8: 43,419,734–43,419,944, 211 basesExon 9: 43,420,153–43,420,323, 171 basesExon 10: 43,420,749–43,420,983, 235 basesExon 11: 43,421,174–43,421,303, 130 basesExon 12: 43,422,083–43,422,225, 143 basesExon 13: 43,422,480–43,422,632, 153 basesExon 14: 43,422,769–43,422,883, 115 basesExon 15: 43,423,099–43,423,316, 218 basesExon 16: 43,424,217–43,424,432, 216 basesExon 17: 43,424,784–43,424,862, 79 basesExon 18: 43,425,113–43,425,207, 95 basesExon 19: 43,425,474–43,425,642, 169 basesExon 20: 43,425,835–43,425,949, 115 basesExon 21: 43,426,038–43,426,151, 114 basesExon 22: 43,426,368–43,426,538, 171 basesExon 23: 43,426,715–43,426,809, 95 basesExon 24: 43,427,056–43,427,179, 124 basesExon 25: 43,427,281–43,427,445, 165 basesExon 26: 43,427,530–43,427,734, 205 basesExon 27: 43,428,003–43,428,118, 116 basesExon 28: 43,428,240–43,428,486, 247 basesExon 29: 43,429,703–43,429,844, 142 basesExon 30: 43,430,011–43,430,103, 93 basesExon 31: 43,430,311–43,430,389, 79 basesExon 32: 43,430,496–43,430,789, 294 basesExon 33: 43,430,949–43,431,090, 142 basesExon 34: 43,431,265–43,431,372, 108 basesExon 35: 43,431,460–43,431,523, 64 basesExon 36: 43,431,716–43,431,901, 186 basesExon 37: 43,432,272–43,432,439, 168 basesExon 38: 43,432,517–43,432,604, 88 basesExon 39: 43,432,728–43,432,799, 72 basesExon 40: 43,432,989–43,433,190, 202 basesExon 41: 43,434,386–43,434,485, 100 basesExon 42: 43,435,200–43,435,329, 130 basesExon 43: 43,437,171–43,437,323, 153 basesExon 44: 43,437,406–43,437,508, 103 basesExon 45: 43,437,595–43,437,700, 106 basesExon 46: 43,437,791–43,437,902, 112 basesExon 47: 43,438,699–43,438,817, 119 basesExon 48: 43,438,929–43,439,093, 165 basesExon 49: 43,439,358–43,439,442, 85 basesExon 50: 43,439,605–43,439,769, 165 basesExon 51: 43,439,881–43,440,048, 168 basesExon 52: 43,440,453–43,440,586, 134 basesExon 53: 43,441,214–43,441,380, 167 basesExon 54: 43,441,504–43,441,601, 98 basesExon 55: 43,441,686–43,441,818, 133 basesExon 56: 43,442,000–43,442,130, 131 basesExon 57: 43,442,268–43,442,368, 101 basesExon 58: 43,442,442–43,442,618, 177 basesExon 59: 43,442,819–43,443,086, 268 basesExon 60: 43,443,188–43,443,267, 80 basesExon 61: 43,443,352–43,443,477, 126 basesExon 62: 43,443,597–43,443,796, 200 basesExon 63: 43,445,894–43,445,984, 91 basesExon 64: 43,446,179–43,446,259, 81 basesExon 65: 43,446,342–43,446,416, 75 basesExon 66: 43,446,955–43,447,168, 214 basesExon 67: 43,447,545–43,447,698, 154 basesExon 68: 43,447,849–43,447,971, 123 basesExon 69: 43,448,079–43,448,484, 406 basesExon 70: 43,448,612–43,448,728, 117 basesExon 71: 43,450,103–43,450,171, 69 basesExon 72: 43,450,337–43,454,247, 3,911 bases110203040506070725′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 14.1 kb of the gene's 64.3 kb; 10,299 of those bases code for the protein.

    How a genome test reads SZT2

    37

    positions in SZT2 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 64.3 kb of SZT2, introns included, not only the 14.1 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.). SZT2 gene: SZT2 subunit of KICSTOR complex. Retrieved 16 October 2026, from https://dantelabs.com/genes/szt2

    Vancouver

    Dante Labs. SZT2 gene: SZT2 subunit of KICSTOR complex [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/szt2

    One test. A lifetime of answers.

    From $449Free shipping · Results in 6–8 weeks

    Get my Genome Test