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Gene

CUBN

cubilin

Summary

Cytogenetic location
10p13
Coordinates
Chromosome 10: 16,823,966–17,129,811 (GRCh38)
Exons
67 exons across 305.8 kb
Protein
3,623 amino acids
Inheritance
Autosomal recessive
Also known as
IFCR, gp280
Previous symbols
MGA1
MANE Select transcript
ENST00000377833.10NM_001081.4
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

  • Homocystinuria & Cobalamin Disorders

    • Inborn Disorders of Cobalamin Metabolism and TransportAutosomal recessive

      Includes defects in vitamin B12 absorption and transport such as Imerslund-Gräsbeck syndrome (CUBN, AMN), intrinsic factor deficiency (CBLIF) and transcobalamin II deficiency (TCN2), as well as intracellular cobalamin processing defects, which can cause megaloblastic anaemia, nerve damage and failure to thrive.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing allows lifelong vitamin B12 injections or other cobalamin treatment, which can prevent anaemia and neurological damage.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How CUBN is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 10, with a bracket where CUBN sits. CUBN and 6 genes near it on chromosome 10, from 16,476,889 to 17,476,888.Chromosome 1010p13p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.316.6 Mb16.8 Mb17 Mb17.2 Mb17.4 MbPTER: 16,436,940–16,515,220, forward strandPTERC1QL3: 16,510,763–16,521,885, reverse strandC1QL3RSU1: 16,567,276–16,817,603, reverse strandRSU1CUBN: 16,823,966–17,129,811, reverse strandCUBNTRDMT1: 17,137,336–17,202,054, reverse strandTRDMT1VIM: 17,228,241–17,237,595, forward strandVIMST8SIA6: 17,315,416–17,454,681, reverse strandST8SIA6Diagram of CUBN: 67 exons on the reverse strand of chromosome 10Exon 66: 5 known disease-causing sitesExon 65: 2 known disease-causing sitesExon 64: 6 known disease-causing sitesExon 63: 2 known disease-causing sitesExon 62: 3 known disease-causing sitesExon 61: 1 known disease-causing siteExon 60: 5 known disease-causing sitesExon 59: 3 known disease-causing sitesExon 57: 1 known disease-causing siteExon 56: 1 known disease-causing siteExon 55: 4 known disease-causing sitesExon 54: 2 known disease-causing sitesExon 53: 2 known disease-causing sitesExon 52: 4 known disease-causing sitesExon 51: 4 known disease-causing sitesExon 50: 2 known disease-causing sitesExon 49: 1 known disease-causing siteExon 48: 3 known disease-causing sitesExon 47: 1 known disease-causing siteExon 46: 8 known disease-causing sitesExon 45: 6 known disease-causing sitesExon 44: 1 known disease-causing siteExon 43: 1 known disease-causing siteExon 42: 3 known disease-causing sitesExon 40: 2 known disease-causing sitesExon 39: 4 known disease-causing sitesExon 38: 1 known disease-causing siteExon 37: 5 known disease-causing sitesExon 36: 2 known disease-causing sitesExon 35: 1 known disease-causing siteExon 34: 2 known disease-causing sitesExon 33: 1 known disease-causing siteExon 32: 3 known disease-causing sitesExon 31: 2 known disease-causing sitesExon 30: 3 known disease-causing sitesExon 28: 3 known disease-causing sitesExon 27: 1 known disease-causing siteExon 26: 1 known disease-causing siteExon 25: 2 known disease-causing sitesExon 22: 2 known disease-causing sitesExon 21: 1 known disease-causing siteExon 20: 2 known disease-causing sitesExon 19: 5 known disease-causing sitesExon 18: 1 known disease-causing siteExon 17: 2 known disease-causing sitesExon 16: 1 known disease-causing siteExon 15: 2 known disease-causing sitesExon 13: 2 known disease-causing sitesExon 12: 2 known disease-causing sitesExon 9: 1 known disease-causing siteExon 8: 2 known disease-causing sitesExon 7: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 67: 16,823,966–16,825,082, 1,117 basesExon 66: 16,828,805–16,829,040, 236 basesExon 65: 16,831,252–16,831,417, 166 basesExon 64: 16,835,014–16,835,195, 182 basesExon 63: 16,836,235–16,836,382, 148 basesExon 62: 16,840,330–16,840,535, 206 basesExon 61: 16,840,885–16,841,047, 163 basesExon 60: 16,851,235–16,851,443, 209 basesExon 59: 16,869,636–16,869,853, 218 basesExon 58: 16,874,374–16,874,503, 130 basesExon 57: 16,876,897–16,877,097, 201 basesExon 56: 16,888,417–16,888,566, 150 basesExon 55: 16,890,371–16,890,527, 157 basesExon 54: 16,898,996–16,899,183, 188 basesExon 53: 16,900,625–16,900,850, 226 basesExon 52: 16,901,338–16,901,459, 122 basesExon 51: 16,903,966–16,904,115, 150 basesExon 50: 16,906,203–16,906,409, 207 basesExon 49: 16,907,508–16,907,679, 172 basesExon 48: 16,913,811–16,913,992, 182 basesExon 47: 16,915,032–16,915,172, 141 basesExon 46: 16,915,821–16,916,030, 210 basesExon 45: 16,918,622–16,918,800, 179 basesExon 44: 16,919,963–16,920,137, 175 basesExon 43: 16,925,241–16,925,424, 184 basesExon 42: 16,925,584–16,925,774, 191 basesExon 41: 16,928,157–16,928,303, 147 basesExon 40: 16,933,087–16,933,284, 198 basesExon 39: 16,937,592–16,937,784, 193 basesExon 38: 16,938,963–16,939,147, 185 basesExon 37: 16,940,032–16,940,237, 206 basesExon 36: 16,947,235–16,947,367, 133 basesExon 35: 16,948,478–16,948,606, 129 basesExon 34: 16,950,001–16,950,111, 111 basesExon 33: 16,952,276–16,952,389, 114 basesExon 32: 16,954,389–16,954,548, 160 basesExon 31: 16,982,484–16,982,653, 170 basesExon 30: 16,984,105–16,984,279, 175 basesExon 29: 16,990,334–16,990,515, 182 basesExon 28: 17,019,833–17,019,983, 151 basesExon 27: 17,041,033–17,041,220, 188 basesExon 26: 17,043,827–17,043,983, 157 basesExon 25: 17,045,007–17,045,188, 182 basesExon 24: 17,045,934–17,046,094, 161 basesExon 23: 17,047,414–17,047,603, 190 basesExon 22: 17,065,508–17,065,638, 131 basesExon 21: 17,068,064–17,068,280, 217 basesExon 20: 17,068,605–17,068,770, 166 basesExon 19: 17,071,426–17,071,604, 179 basesExon 18: 17,071,827–17,071,971, 145 basesExon 17: 17,084,271–17,084,461, 191 basesExon 16: 17,085,597–17,085,759, 163 basesExon 15: 17,088,164–17,088,345, 182 basesExon 14: 17,100,005–17,100,239, 235 basesExon 13: 17,103,125–17,103,237, 113 basesExon 12: 17,104,419–17,104,605, 187 basesExon 11: 17,105,457–17,105,575, 119 basesExon 10: 17,109,640–17,109,735, 96 basesExon 9: 17,110,919–17,111,050, 132 basesExon 8: 17,114,027–17,114,189, 163 basesExon 7: 17,115,471–17,115,597, 127 basesExon 6: 17,122,795–17,122,898, 104 basesExon 5: 17,123,588–17,123,689, 102 basesExon 4: 17,126,761–17,126,799, 39 basesExon 3: 17,127,829–17,127,924, 96 basesExon 2: 17,129,121–17,129,250, 130 basesExon 1: 17,129,644–17,129,811, 168 bases6760504030201015′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 11.9 kb of the gene's 305.8 kb; 10,872 of those bases code for the protein.

How a genome test reads CUBN

178

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

55 of them (31%) fall in regions short reads find hard.

  • Low mappability (2 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (55 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 305.8 kb of CUBN, introns included, not only the 11.9 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.). CUBN gene: cubilin. Retrieved 16 October 2026, from https://dantelabs.com/genes/cubn

Vancouver

Dante Labs. CUBN gene: cubilin [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cubn

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