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Gene

C19orf12

chromosome 19 open reading frame 12

Summary

Cytogenetic location
19q12
Coordinates
Chromosome 19: 29,698,937–29,715,261 (GRCh38)
Exons
3 exons across 16.3 kb
Protein
141 amino acids
Also known as
MGC10922, DKFZP762D096, NBIA4, MPAN
Previous symbols
SPG43
MANE Select transcript
ENST00000323670.14NM_031448.6
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

  • Neurodegeneration with Brain Iron Accumulation (NBIA)

    • Neurodegeneration with Brain Iron Accumulation

      A group of disorders including PKAN (PANK2), PLAN (PLA2G6), MPAN (C19orf12), BPAN (WDR45), neuroferritinopathy (FTL) and aceruloplasminemia (CP), with mostly recessive inheritance.

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

      Symptom treatment for dystonia and parkinsonism, iron chelation for aceruloplasminemia, and carrier testing for relatives in recessive forms.

How C19orf12 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 19, with a bracket where C19orf12 sits. C19orf12 and 6 genes near it on chromosome 19, from 29,207,099 to 30,207,098.Chromosome 1919q12p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4329.4 Mb29.6 Mb29.8 Mb30 Mb30.2 MbUQCRFS1: 29,202,811–29,213,151, reverse strandUQCRFS1VSTM2B: 29,524,739–29,564,553, forward strandVSTM2BPOP4: 29,606,283–29,617,237, forward strandPOP4PLEKHF1: 29,665,398–29,675,497, forward strandPLEKHF1C19orf12: 29,698,937–29,715,261, reverse strandC19orf12CCNE1: 29,811,471–29,824,313, forward strandCCNE1URI1: 29,923,644–30,017,781, forward strandURI1Diagram of C19orf12: 3 exons on the reverse strand of chromosome 19Exon 3: 17 known disease-causing sitesExon 2: 7 known disease-causing sitesExon 3: 29,698,937–29,702,977, 4,041 basesExon 2: 29,708,254–29,708,423, 170 basesExon 1: 29,715,125–29,715,261, 137 bases3215′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 4.3 kb of the gene's 16.3 kb; 426 of those bases code for the protein.

How a genome test reads C19orf12

27

positions in C19orf12 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 16.3 kb of C19orf12, introns included, not only the 4.3 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.). C19orf12 gene: chromosome 19 open reading frame 12. Retrieved 17 October 2026, from https://dantelabs.com/genes/c19orf12

Vancouver

Dante Labs. C19orf12 gene: chromosome 19 open reading frame 12 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/c19orf12

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