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Gene

CABP4

calcium binding protein 4

Summary

Cytogenetic location
11q13.2
Coordinates
Chromosome 11: 67,455,354–67,461,752 (GRCh38)
Exons
6 exons across 6.4 kb
Protein
275 amino acids
Also known as
CSNB2B
MANE Select transcript
ENST00000325656.7NM_145200.5
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

  • Congenital Stationary Night Blindness

    • A group of mostly non-progressive retinal conditions, including Oguchi disease, caused by changes in genes such as NYX, CACNA1F, TRPM1, GRM6, GPR179 and SAG, often with nystagmus or short-sightedness.

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

      A genetic diagnosis explains the symptoms, helps distinguish the condition from progressive retinal diseases and informs family counselling.

How CABP4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 11, with a bracket where CABP4 sits. CABP4 and 29 genes near it on chromosome 11, from 66,958,553 to 67,958,552.Chromosome 1111q13.2p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2567 Mb67.2 Mb67.4 Mb67.6 Mb67.8 MbC11orf86: 66,975,272–66,977,009, forward strandC11orf86SYT12: 67,006,772–67,051,110, forward strandSYT12RHOD: 67,056,608–67,072,044, forward strandRHODKDM2A: 67,119,247–67,258,082, forward strandKDM2AGRK2: 67,266,351–67,286,562, forward strandGRK2ANKRD13D: 67,288,655–67,302,486, forward strandANKRD13DSSH3: 67,303,478–67,312,608, forward strandSSH3RAD9A: 67,317,871–67,398,412, forward strandRAD9APOLD4: 67,345,400–67,356,972, reverse strandPOLD4: 67,351,572–67,373,584, reverse strandCLCF1: 67,364,168–67,374,301, reverse strandCLCF1PPP1CA: 67,398,176–67,421,183, reverse strandTBC1D10C: 67,398,454–67,410,092, forward strandCARNS1: 67,414,968–67,425,613, forward strandRPS6KB2: 67,428,442–67,435,414, forward strandCORO1B: 67,435,510–67,443,828, reverse strandCORO1BPTPRCAP: 67,435,510–67,437,682, reverse strandGPR152: 67,451,301–67,452,729, reverse strandGPR152CABP4: 67,455,354–67,461,752, forward strandCABP4TMEM134: 67,461,710–67,469,291, reverse strandTMEM134AIP: 67,468,174–67,492,034, forward strandPITPNM1: 67,491,075–67,506,263, reverse strandCDK2AP2: 67,506,490–67,508,701, reverse strandCABP2: 67,518,912–67,524,517, reverse strandCABP2GSTP1: 67,583,523–67,592,110, forward strandGSTP1NDUFV1: 67,605,653–67,612,554, forward strandNDUFV1NUDT8: 67,627,937–67,630,112, reverse strandNUDT8TBX10: 67,631,303–67,639,767, reverse strandTBX10ACY3: 67,642,551–67,650,900, reverse strandACY3ALDH3B2: 67,662,155–67,681,224, reverse strandDiagram of CABP4: 6 exons on the forward strand of chromosome 11Exon 1: 5 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 5: 1 known disease-causing siteExon 1: 67,455,354–67,455,789, 436 basesExon 2: 67,456,188–67,456,218, 31 basesExon 3: 67,456,299–67,456,442, 144 basesExon 4: 67,457,573–67,457,682, 110 basesExon 5: 67,458,371–67,458,518, 148 basesExon 6: 67,458,631–67,461,752, 3,122 bases1234565′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 kb of the gene's 6.4 kb; 828 of those bases code for the protein.

How a genome test reads CABP4

9

positions in CABP4 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 6.4 kb of CABP4, introns included, not only the 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.). CABP4 gene: calcium binding protein 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/cabp4

Vancouver

Dante Labs. CABP4 gene: calcium binding protein 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cabp4

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