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Gene

NDP

norrin cystine knot growth factor NDP

Summary

Cytogenetic location
Xp11.3
Coordinates
Chromosome X: 43,948,776–43,973,390 (GRCh38)
Exons
3 exons across 24.6 kb
Protein
133 amino acids
Inheritance
X-linked recessive
Also known as
norrin
Previous symbols
EVR2
MANE Select transcript
ENST00000642620.1NM_000266.4
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

  • Vitreoretinopathy

    • Norrie DiseaseX-linked recessive

      A rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
    • Vitreoretinal Degeneration
      • 2 GenCC submitters rate it definitive or strong

Inheritance

X-linked recessive
The change is on the X chromosome, so one copy affects males, who have one X, while females with one are usually carriers. A carrier mother passes it on to each child with a one-in-two chance.

How NDP is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome X, with a bracket where NDP sits. NDP and 3 genes near it on chromosome X, from 43,461,083 to 44,461,082.Chromosome XXp11.3p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2843.6 Mb43.8 Mb44 Mb44.2 Mb44.4 MbMAOA: 43,654,907–43,746,821, forward strandMAOAMAOB: 43,766,400–43,882,568, reverse strandMAOBNDP: 43,948,776–43,973,390, reverse strandNDPEFHC2: 44,145,243–44,343,850, reverse strandEFHC2Diagram of NDP: 3 exons on the reverse strand of chromosome XExon 3: 14 known disease-causing sitesExon 2: 9 known disease-causing sitesExon 3: 43,948,776–43,950,026, 1,251 basesExon 2: 43,958,472–43,958,852, 381 basesExon 1: 43,973,304–43,973,390, 87 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 1.7 kb of the gene's 24.6 kb; 402 of those bases code for the protein.

How a genome test reads NDP

23

positions in NDP 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 24.6 kb of NDP, introns included, not only the 1.7 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.). NDP gene: norrin cystine knot growth factor NDP. Retrieved 16 October 2026, from https://dantelabs.com/genes/ndp

Vancouver

Dante Labs. NDP gene: norrin cystine knot growth factor NDP [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ndp

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