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Gene

RBP4

retinol binding protein 4

Summary

Cytogenetic location
10q23.33
Coordinates
Chromosome 10: 93,591,694–93,601,235 (GRCh38)
Exons
6 exons across 9.5 kb
Protein
201 amino acids
MANE Select transcript
ENST00000371464.8NM_006744.4
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

  • Microphthalmia, Anophthalmia & Coloboma

    • Isolated Anophthalmia, Microphthalmia & Coloboma

      Eye malformations without other features, including nanophthalmos, caused by changes in genes such as VSX2, RAX, MFRP, PRSS56 and others.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      People with nanophthalmos (often MFRP or PRSS56) have a raised risk of angle-closure glaucoma and need regular eye checks; a genetic diagnosis also informs recurrence risk.

How RBP4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 10, with a bracket where RBP4 sits. RBP4 and 8 genes near it on chromosome 10, from 93,096,465 to 94,096,464.Chromosome 1010q23.33p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.393.2 Mb93.4 Mb93.6 Mb93.8 Mb94 MbMYOF: 93,306,429–93,482,334, reverse strandMYOFCEP55: 93,496,577–93,529,096, forward strandCEP55FFAR4: 93,566,653–93,605,840, forward strandFFAR4RBP4: 93,591,694–93,601,235, reverse strandRBP4PDE6C: 93,612,533–93,666,010, forward strandPDE6CFRA10AC1: 93,667,126–93,703,294, reverse strandFRA10AC1LGI1: 93,757,840–93,806,272, forward strandLGI1SLC35G1: 93,893,918–93,956,062, forward strandSLC35G1PLCE1: 93,993,807–94,332,823, forward strandPLCE1Diagram of RBP4: 6 exons on the reverse strand of chromosome 10Exon 5: 2 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 3: 1 known disease-causing siteExon 6: 93,591,694–93,592,112, 419 basesExon 5: 93,593,823–93,594,035, 213 basesExon 4: 93,600,393–93,600,499, 107 basesExon 3: 93,600,667–93,600,803, 137 basesExon 2: 93,600,918–93,601,046, 129 basesExon 1: 93,601,171–93,601,235, 65 bases6543215′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 1.1 kb of the gene's 9.5 kb; 606 of those bases code for the protein.

How a genome test reads RBP4

6

positions in RBP4 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 9.5 kb of RBP4, introns included, not only the 1.1 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.). RBP4 gene: retinol binding protein 4. Retrieved 16 October 2026, from https://dantelabs.com/genes/rbp4

Vancouver

Dante Labs. RBP4 gene: retinol binding protein 4 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/rbp4

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