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Gene

COPB2

coat protein complex I subunit beta 2

Summary

Cytogenetic location
3q23
Coordinates
Chromosome 3: 139,357,406–139,389,647 (GRCh38)
Exons
22 exons across 32.2 kb
Protein
906 amino acids
Inheritance
Autosomal dominant
Also known as
beta'-COP, betaprime-COP
MANE Select transcript
ENST00000333188.10NM_004766.3
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

  • Monogenic Early-Onset Osteoporosis

    • Childhood- or juvenile-onset osteoporosis with developmental delay (COPB2-related)Autosomal dominant

      Osteoporosis with fractures beginning in childhood, together with developmental delay, caused by COPB2 variants.

      • 2 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How COPB2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 3, with a bracket where COPB2 sits. COPB2 and 9 genes near it on chromosome 3, from 138,873,527 to 139,873,526.Chromosome 33q23p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q29139 Mb139.2 Mb139.4 Mb139.6 Mb139.8 MbFOXL2: 138,944,224–138,947,137, reverse strandFOXL2FOXL2NB: 138,947,177–138,953,990, forward strandFOXL2NBPRR23A: 139,003,962–139,006,268, reverse strandPRR23AMRPS22: 139,005,806–139,360,497, forward strandMRPS22PRR23B: 139,019,031–139,020,926, reverse strandPRR23BPRR23C: 139,042,102–139,044,892, reverse strandPRR23CCOPB2: 139,357,406–139,389,647, reverse strandCOPB2RBP2: 139,452,884–139,480,767, reverse strandRBP2RBP1: 139,517,434–139,540,396, reverse strandRBP1NMNAT3: 139,558,696–139,678,017, reverse strandNMNAT3Diagram of COPB2: 22 exons on the reverse strand of chromosome 3Exon 14: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 22: 139,357,406–139,357,958, 553 basesExon 21: 139,358,200–139,358,271, 72 basesExon 20: 139,358,744–139,358,812, 69 basesExon 19: 139,358,998–139,359,178, 181 basesExon 18: 139,359,270–139,359,362, 93 basesExon 17: 139,361,081–139,361,295, 215 basesExon 16: 139,362,407–139,362,517, 111 basesExon 15: 139,366,568–139,366,775, 208 basesExon 14: 139,367,015–139,367,145, 131 basesExon 13: 139,368,145–139,368,288, 144 basesExon 12: 139,369,261–139,369,367, 107 basesExon 11: 139,369,456–139,369,544, 89 basesExon 10: 139,371,723–139,371,833, 111 basesExon 9: 139,373,213–139,373,412, 200 basesExon 8: 139,373,666–139,373,808, 143 basesExon 7: 139,374,489–139,374,588, 100 basesExon 6: 139,375,468–139,375,614, 147 basesExon 5: 139,378,041–139,378,189, 149 basesExon 4: 139,379,047–139,379,173, 127 basesExon 3: 139,379,380–139,379,466, 87 basesExon 2: 139,383,298–139,383,435, 138 basesExon 1: 139,389,548–139,389,647, 100 bases22201510515′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 3.3 kb of the gene's 32.2 kb; 2,721 of those bases code for the protein.

How a genome test reads COPB2

5

positions in COPB2 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 32.2 kb of COPB2, introns included, not only the 3.3 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.). COPB2 gene: coat protein complex I subunit beta 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/copb2

Vancouver

Dante Labs. COPB2 gene: coat protein complex I subunit beta 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/copb2

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