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Gene

IMPG2

interphotoreceptor matrix proteoglycan 2

Summary

Cytogenetic location
3q12.3
Coordinates
Chromosome 3: 101,222,546–101,320,575 (GRCh38)
Exons
19 exons across 98 kb
Protein
1,241 amino acids
Inheritance
Autosomal recessive
Also known as
IPM200, RP56, SPACRCAN
MANE Select transcript
ENST00000193391.8NM_016247.4
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 report relevant to this gene

  • Retinitis Pigmentosa

    • IMPG2-Related Recessive RetinopathyAutosomal recessive

      A retinal dystrophy caused by changes in the IMPG2 gene.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong

    • One of 77 genes linked to it

      A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.

      • 3 GenCC submitters rate it definitive or strong

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 IMPG2 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 IMPG2 sits. IMPG2 and 9 genes near it on chromosome 3, from 100,771,561 to 101,771,560.Chromosome 33q12.3p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q29100.8 Mb101 Mb101.2 Mb101.4 Mb101.6 MbTFG: 100,709,295–100,793,279, forward strandTFGABI3BP: 100,749,155–100,993,517, reverse strandABI3BPIMPG2: 101,222,546–101,320,575, reverse strandIMPG2SENP7: 101,324,205–101,513,241, reverse strandSENP7TRMT10C: 101,561,834–101,566,446, forward strandTRMT10CPCNP: 101,574,083–101,594,510, forward strandPCNPZBTB11: 101,648,889–101,677,135, reverse strandZBTB11RPL24: 101,677,660–101,686,825, reverse strandRPL24: 101,686,827–101,713,301, forward strandCEP97: 101,724,534–101,770,562, forward strandCEP97Diagram of IMPG2: 19 exons on the reverse strand of chromosome 3Exon 17: 2 known disease-causing sitesExon 16: 2 known disease-causing sitesExon 15: 8 known disease-causing sitesExon 14: 2 known disease-causing sitesExon 13: 12 known disease-causing sitesExon 12: 4 known disease-causing sitesExon 10: 2 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 6: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 3: 5 known disease-causing sitesExon 2: 5 known disease-causing sitesExon 1: 1 known disease-causing siteExon 19: 101,222,546–101,226,981, 4,436 basesExon 18: 101,228,797–101,228,876, 80 basesExon 17: 101,229,380–101,229,590, 211 basesExon 16: 101,230,957–101,231,145, 189 basesExon 15: 101,232,781–101,232,991, 211 basesExon 14: 101,242,688–101,242,907, 220 basesExon 13: 101,243,529–101,244,787, 1,259 basesExon 12: 101,245,802–101,246,105, 304 basesExon 11: 101,253,696–101,253,781, 86 basesExon 10: 101,257,529–101,257,773, 245 basesExon 9: 101,267,511–101,267,531, 21 basesExon 8: 101,269,515–101,269,573, 59 basesExon 7: 101,273,581–101,273,742, 162 basesExon 6: 101,275,663–101,275,745, 83 basesExon 5: 101,276,664–101,276,713, 50 basesExon 4: 101,291,479–101,291,510, 32 basesExon 3: 101,304,146–101,304,312, 167 basesExon 2: 101,319,584–101,319,832, 249 basesExon 1: 101,320,288–101,320,575, 288 bases191510515′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 8.4 kb of the gene's 98 kb; 3,726 of those bases code for the protein.

How a genome test reads IMPG2

58

positions in IMPG2 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 98 kb of IMPG2, introns included, not only the 8.4 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.). IMPG2 gene: interphotoreceptor matrix proteoglycan 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/impg2

Vancouver

Dante Labs. IMPG2 gene: interphotoreceptor matrix proteoglycan 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/impg2

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