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Gene

CHN1

chimerin 1

Summary

Cytogenetic location
2q31.1
Coordinates
Chromosome 2: 174,798,809–175,005,381 (GRCh38)
Exons
13 exons across 206.6 kb
Protein
459 amino acids
Inheritance
Autosomal dominant
Also known as
RhoGAP2, ARHGAP2, n-chimerin
Previous symbols
CHN, DURS2
MANE Select transcript
ENST00000409900.9NM_001822.7
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

  • Congenital Cranial Dysinnervation Disorders

    • Duane Retraction SyndromeAutosomal dominant

      A condition in which sideways eye movement is limited and the eye retracts on certain movements; inherited forms are caused by changes in genes such as CHN1 and MAFB.

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

      Knowing the cause informs recurrence risk and helps check for associated features in syndromic forms.

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 CHN1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where CHN1 sits. CHN1 and 6 genes near it on chromosome 2, from 174,402,095 to 175,402,094.Chromosome 22q31.1p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3174.6 Mb174.8 Mb175 Mb175.2 Mb175.4 MbSCRN3: 174,395,724–174,432,340, forward strandSCRN3GPR155: 174,431,571–174,487,150, reverse strandGPR155WIPF1: 174,559,563–174,682,916, reverse strandWIPF1CHRNA1: 174,747,592–174,787,935, reverse strandCHRNA1CHN1: 174,798,809–175,005,381, reverse strandCHN1ATF2: 175,072,250–175,168,382, reverse strandATF2ATP5MC3: 175,172,968–175,181,764, reverse strandATP5MC3Diagram of CHN1: 13 exons on the reverse strand of chromosome 2Exon 8: 2 known disease-causing sitesExon 6: 1 known disease-causing siteExon 13: 174,798,809–174,800,287, 1,479 basesExon 12: 174,801,707–174,801,812, 106 basesExon 11: 174,808,905–174,809,042, 138 basesExon 10: 174,811,511–174,811,588, 78 basesExon 9: 174,812,309–174,812,482, 174 basesExon 8: 174,824,434–174,824,518, 85 basesExon 7: 174,846,880–174,846,957, 78 basesExon 6: 174,877,840–174,878,128, 289 basesExon 5: 174,915,058–174,915,171, 114 basesExon 4: 174,918,534–174,918,565, 32 basesExon 3: 174,944,888–174,944,943, 56 basesExon 2: 174,952,164–174,952,202, 39 basesExon 1: 175,004,894–175,005,381, 488 bases1310515′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 3.2 kb of the gene's 206.6 kb; 1,380 of those bases code for the protein.

How a genome test reads CHN1

3

positions in CHN1 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 206.6 kb of CHN1, introns included, not only the 3.2 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.). CHN1 gene: chimerin 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/chn1

Vancouver

Dante Labs. CHN1 gene: chimerin 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/chn1

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