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Gene

UBQLN2

ubiquilin 2

Summary

Cytogenetic location
Xp11.21
Coordinates
Chromosome X: 56,563,627–56,567,868 (GRCh38)
Exons
1 exon across 4.2 kb
Protein
624 amino acids
Also known as
Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2
MANE Select transcript
ENST00000338222.7NM_013444.4
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

  • Amyotrophic Lateral Sclerosis (ALS)

    • Amyotrophic Lateral Sclerosis

      A neurodegenerative disorder of upper and lower motor neurons, occurring in sporadic and familial forms.

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

      Tofersen (Qalsody, FDA 2023) for SOD1-ALS; ASO trials for C9orf72 and FUS; riluzole; edaravone; AMX0035 (sodium phenylbutyrate-taurursodiol); multidisciplinary ALS clinic care; respiratory support; genetic counseling for family members

How UBQLN2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome X, with a bracket where UBQLN2 sits. UBQLN2 and 3 genes near it on chromosome X, from 56,065,748 to 57,065,747.Chromosome XXp11.21p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2856.2 Mb56.4 Mb56.6 Mb56.8 Mb57 MbKLF8: 56,232,344–56,291,531, forward strandKLF8UBQLN2: 56,563,627–56,567,868, forward strandUBQLN2NBDY: 56,728,990–56,819,701, forward strandNBDYSPIN3: 56,818,298–56,995,827, reverse strandSPIN3Diagram of UBQLN2: one exon on the forward strand of chromosome XExon 1: 4 known disease-causing sitesExon 1: 56,563,627–56,567,868, 4,242 bases15′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 4.2 kb of the gene's 4.2 kb; 1,875 of those bases code for the protein.

How a genome test reads UBQLN2

4

positions in UBQLN2 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 4.2 kb of UBQLN2, introns included, not only the 4.2 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.). UBQLN2 gene: ubiquilin 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/ubqln2

Vancouver

Dante Labs. UBQLN2 gene: ubiquilin 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ubqln2

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