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Gene

INVS

inversin

Summary

Cytogenetic location
9q31.1
Coordinates
Chromosome 9: 100,099,243–100,302,175 (GRCh38)
Exons
17 exons across 202.9 kb
Protein
1,065 amino acids
Inheritance
Autosomal recessive
Previous symbols
NPHP2
MANE Select transcript
ENST00000262457.7NM_014425.5
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

  • Nephronophthisis and Senior-Løken Syndrome

    • NephronophthisisAutosomal recessive

      A recessively inherited kidney disease, caused by variants in NPHP1 and other cilia genes, in which progressive tubulointerstitial scarring leads to kidney failure, typically in the first three decades of life.

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

      Knowing allows regular kidney function monitoring, timely planning for dialysis or transplantation, and carrier testing for relatives.

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 INVS is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 9, with a bracket where INVS sits. INVS and 8 genes near it on chromosome 9, from 99,700,709 to 100,700,708.Chromosome 99q31.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.399.8 Mb100 Mb100.2 Mb100.4 Mb100.6 MbNR4A3: 99,821,847–99,866,891, forward strandNR4A3STX17: 99,906,654–99,974,534, forward strandSTX17ERP44: 99,978,911–100,099,052, reverse strandERP44INVS: 100,099,243–100,302,175, forward strandINVSTEX10: 100,301,780–100,352,957, reverse strandTEX10MSANTD3: 100,426,693–100,471,524, forward strandMSANTD3MSANTD3-TMEFF1: 100,442,271–100,577,636, forward strandMSANTD3-TMEFF1TMEFF1: 100,473,084–100,577,636, forward strandTMEFF1CAVIN4: 100,578,033–100,590,017, forward strandCAVIN4Diagram of INVS: 17 exons on the forward strand of chromosome 9Exon 2: 1 known disease-causing siteExon 3: 4 known disease-causing sitesExon 4: 8 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 6: 8 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 8: 3 known disease-causing sitesExon 9: 5 known disease-causing sitesExon 10: 7 known disease-causing sitesExon 11: 4 known disease-causing sitesExon 12: 7 known disease-causing sitesExon 13: 10 known disease-causing sitesExon 14: 21 known disease-causing sitesExon 15: 11 known disease-causing sitesExon 16: 1 known disease-causing siteExon 17: 1 known disease-causing siteExon 1: 100,099,243–100,099,416, 174 basesExon 2: 100,104,498–100,104,627, 130 basesExon 3: 100,126,383–100,126,549, 167 basesExon 4: 100,226,062–100,226,235, 174 basesExon 5: 100,229,660–100,229,827, 168 basesExon 6: 100,240,060–100,240,240, 181 basesExon 7: 100,242,570–100,242,679, 110 basesExon 8: 100,246,616–100,246,787, 172 basesExon 9: 100,252,283–100,252,438, 156 basesExon 10: 100,252,907–100,253,136, 230 basesExon 11: 100,264,822–100,264,928, 107 basesExon 12: 100,272,864–100,273,076, 213 basesExon 13: 100,284,320–100,284,603, 284 basesExon 14: 100,292,326–100,293,043, 718 basesExon 15: 100,296,917–100,297,146, 230 basesExon 16: 100,297,936–100,298,010, 75 basesExon 17: 100,300,568–100,302,175, 1,608 bases110175′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 4.9 kb of the gene's 202.9 kb; 3,198 of those bases code for the protein.

How a genome test reads INVS

112

positions in INVS 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 202.9 kb of INVS, introns included, not only the 4.9 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.). INVS gene: inversin. Retrieved 16 October 2026, from https://dantelabs.com/genes/invs

Vancouver

Dante Labs. INVS gene: inversin [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/invs

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