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Gene

UBE2A

ubiquitin conjugating enzyme E2 A

Summary

Cytogenetic location
Xq24
Coordinates
Chromosome X: 119,574,563–119,584,423 (GRCh38)
Exons
6 exons across 9.9 kb
Protein
152 amino acids
Also known as
UBC2, HHR6A, RAD6A, HR6A
MANE Select transcript
ENST00000371558.7NM_003336.4
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

    • Intellectual Disability

      • One of 233 genes linked to it

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

    How UBE2A is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    Chromosome X, with a bracket where UBE2A sits. UBE2A and 16 genes near it on chromosome X, from 119,079,493 to 120,079,492.Chromosome XXq24p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q28119.2 Mb119.4 Mb119.6 Mb119.8 Mb120 MbKIAA1210: 119,078,635–119,150,579, reverse strandKIAA1210PGRMC1: 119,236,226–119,244,468, forward strandPGRMC1SLC25A43: 119,399,295–119,454,478, forward strandSLC25A43SLC25A5: 119,468,395–119,472,949, forward strandSLC25A5STEEP1: 119,535,669–119,565,417, reverse strandSTEEP1UBE2A: 119,574,563–119,584,423, forward strandUBE2ANKRF: 119,588,337–119,606,463, reverse strandNKRFSEPTIN6: 119,615,724–119,694,346, reverse strandSEPTIN6RPL39: 119,756,748–119,792,074, reverse strandRPL39SOWAHD: 119,758,588–119,760,202, forward strandSOWAHDUPF3B: 119,832,664–119,853,083, reverse strandUPF3BRNF113A: 119,870,475–119,871,733, reverse strandRNF113ANDUFA1: 119,871,437–119,878,147, forward strandNDUFA1AKAP14: 119,895,837–119,920,720, forward strandAKAP14NKAP: 119,920,672–119,943,781, reverse strandNKAPRHOXF1P3: 119,942,834–119,992,838, forward strandRHOXF1P3RHOXF2B: 120,072,264–120,077,748, reverse strandRHOXF2BDiagram of UBE2A: 6 exons on the forward strand of chromosome XExon 1: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 1: 119,574,563–119,574,755, 193 basesExon 2: 119,574,901–119,574,981, 81 basesExon 3: 119,575,375–119,575,400, 26 basesExon 4: 119,581,507–119,581,596, 90 basesExon 5: 119,582,588–119,582,676, 89 basesExon 6: 119,583,127–119,584,423, 1,297 bases1234565′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 1.8 kb of the gene's 9.9 kb; 459 of those bases code for the protein.

    Sequencing UBE2A

    2Low

    How hard UBE2A is to sequence with short reads, out of 100

    • Mappability0%
    • Homology0%
    • Repeats2%
    • GC content15%
    • Reference coverage0%

    10

    positions in UBE2A 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 9.9 kb of UBE2A, introns included, not only the 1.8 kb of exons.

    Genes linked to the same conditions

    Traits linked to UBE2A

    The Human Phenotype Ontology lists these as features of the rare conditions UBE2A can cause. Each trait's page lists the other genes linked to it.

    External links

    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 2026-10-17: 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 Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.17-8666dff2.

    Cite this page

    APA

    Dante Labs. (n.d.). UBE2A gene: ubiquitin conjugating enzyme E2 A. Retrieved 17 October 2026, from https://dantelabs.com/genes/ube2a

    Vancouver

    Dante Labs. UBE2A gene: ubiquitin conjugating enzyme E2 A [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ube2a

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