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Gene

CD320

CD320 molecule

Summary

Cytogenetic location
19p13.2
Coordinates
Chromosome 19: 8,302,127–8,308,358 (GRCh38)
Exons
5 exons across 6.2 kb
Protein
282 amino acids
Inheritance
Autosomal recessive
Also known as
8D6, 8D6A, TCblR, TCN2R, sCD320, TCII-R
MANE Select transcript
ENST00000301458.10NM_016579.4
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 reports 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.

      • ClinGen rates the link definitive
      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

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

  • Methylmalonic & Propionic Acidemia

    • Methylmalonic AcidemiaAutosomal recessive

      Caused by variants in MMUT, MMAA, MMAB, MCEE and related cobalamin-processing genes, which can cause vomiting, poor feeding, metabolic crises, developmental problems and kidney disease.

      • ClinGen rates the link definitive
      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Knowing allows specialist dietary management, carnitine, vitamin B12 for responsive forms and an emergency plan, which reduces the risk of crises.

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 CD320 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 19, with a bracket where CD320 sits. CD320 and 27 genes near it on chromosome 19, from 7,805,243 to 8,805,242.Chromosome 1919p13.2p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.438 Mb8.2 Mb8.4 Mb8.6 Mb8.8 MbEVI5L: 7,830,182–7,864,980, forward strandEVI5LPRR36: 7,868,719–7,874,674, reverse strandPRR36LRRC8E: 7,888,500–7,902,021, forward strandMAP2K7: 7,903,823–7,914,480, forward strandTGFBR3L: 7,914,760–7,919,097, forward strandTGFBR3LSNAPC2: 7,920,314–7,923,250, forward strandSNAPC2CTXN1: 7,924,491–7,926,174, reverse strandCTXN1TIMM44: 7,926,715–7,943,773, reverse strandTIMM44ELAVL1: 7,958,573–8,006,062, reverse strandELAVL1CCL25: 8,052,293–8,062,665, forward strandCCL25FBN3: 8,065,402–8,149,693, reverse strandFBN3CERS4: 8,206,736–8,263,716, forward strandCERS4CD320: 8,302,127–8,308,358, reverse strandCD320RPS28: 8,307,760–8,323,567, forward strandRPS28: 8,308,283–8,321,379, reverse strandNDUFA7: 8,308,593–8,321,400, reverse strandNDUFA7KANK3: 8,322,582–8,343,281, reverse strandANGPTL4: 8,363,223–8,374,371, forward strandANGPTL4RAB11B: 8,389,981–8,405,875, forward strandRAB11BMARCHF2: 8,411,460–8,439,017, forward strandMARCHF2HNRNPM: 8,444,767–8,489,118, forward strandHNRNPMPRAM1: 8,490,056–8,502,656, reverse strandPRAM1ZNF414: 8,509,678–8,514,177, reverse strandZNF414MYO1F: 8,517,463–8,577,473, reverse strandMYO1FADAMTS10: 8,580,240–8,610,846, reverse strandADAMTS10NFILZ: 8,630,633–8,681,151, forward strandNFILZACTL9: 8,697,400–8,698,795, reverse strandACTL9OR2Z1: 8,721,634–8,732,160, forward strandOR2Z1Diagram of CD320: 5 exons on the reverse strand of chromosome 19Exon 2: 1 known disease-causing siteExon 5: 8,302,127–8,302,605, 479 basesExon 4: 8,302,777–8,302,980, 204 basesExon 3: 8,303,855–8,304,088, 234 basesExon 2: 8,305,031–8,305,156, 126 basesExon 1: 8,308,149–8,308,358, 210 bases543215′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 1.3 kb of the gene's 6.2 kb; 849 of those bases code for the protein.

How a genome test reads CD320

1

position in CD320 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 6.2 kb of CD320, introns included, not only the 1.3 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.). CD320 gene: CD320 molecule. Retrieved 16 October 2026, from https://dantelabs.com/genes/cd320

Vancouver

Dante Labs. CD320 gene: CD320 molecule [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cd320

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