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Gene

EBP

EBP cholestenol delta-isomerase

Summary

Cytogenetic location
Xp11.23
Coordinates
Chromosome X: 48,521,808–48,528,716 (GRCh38)
Exons
5 exons across 6.9 kb
Protein
230 amino acids
Also known as
D8D7I, CPX, CPXD, CHO2
Previous symbols
CDPX2
MANE Select transcript
ENST00000495186.6NM_006579.3
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 reports relevant to this gene

No Genome Test report reads EBP yet. The test sequences your whole genome, so your data includes it all the same.

How EBP is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where EBP sits. EBP and 28 genes near it on chromosome X, from 48,025,262 to 49,025,261.Chromosome XXp11.23p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2848.2 Mb48.4 Mb48.6 Mb48.8 Mb49 MbZNF630: 47,983,356–48,071,893, reverse strandZNF630SPACA5B: 48,130,626–48,132,620, forward strandSPACA5BSSX5: 48,186,220–48,196,797, reverse strandSSX5SSX1: 48,255,368–48,267,444, forward strandSSX1SSX3: 48,337,725–48,356,750, reverse strandSSX3SSX4: 48,383,516–48,393,347, forward strandSSX4SSX4B: 48,402,082–48,411,960, reverse strandSSX4BSLC38A5: 48,458,536–48,470,554, reverse strandSLC38A5FTSJ1: 48,476,021–48,486,364, forward strandFTSJ1PORCN: 48,508,574–48,520,814, forward strandPORCN: 48,521,806–48,545,469, forward strandEBP: 48,521,808–48,528,716, forward strandEBPTBC1D25: 48,539,623–48,562,613, forward strandTBC1D25RBM3: 48,574,056–48,581,162, forward strandRBM3WDR13: 48,589,838–48,608,869, forward strandWDR13WAS: 48,676,593–48,691,431, forward strandWASSUV39H1: 48,695,554–48,709,556, forward strandSUV39H1GLOD5: 48,761,744–48,773,648, forward strandGLOD5GATA1: 48,783,122–48,794,311, forward strandGATA1HDAC6: 48,801,372–48,824,986, forward strandHDAC6ERAS: 48,826,513–48,830,138, forward strandERASPCSK1N: 48,831,088–48,835,632, reverse strandPCSK1NTIMM17B: 48,880,274–48,898,143, reverse strandTIMM17BPQBP1: 48,890,197–48,903,640, forward strandPQBP1SLC35A2: 48,903,180–48,911,958, reverse strandSLC35A2PIM2: 48,913,172–48,919,546, reverse strandPIM2OTUD5: 48,922,024–48,958,390, reverse strandKCND1: 48,960,982–48,971,916, reverse strandKCND1GRIPAP1: 48,973,719–49,002,265, reverse strandGRIPAP1Diagram of EBP: 5 exons on the forward strand of chromosome XExon 2: 14 known disease-causing sitesExon 3: 10 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 5: 7 known disease-causing sitesExon 1: 48,521,808–48,521,907, 100 basesExon 2: 48,523,699–48,524,072, 374 basesExon 3: 48,526,989–48,527,025, 37 basesExon 4: 48,527,155–48,527,285, 131 basesExon 5: 48,528,234–48,528,716, 483 bases123455′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 6.9 kb; 693 of those bases code for the protein.

How a genome test reads EBP

40

positions in EBP 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 6.9 kb of EBP, 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.
  • 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.). EBP gene: EBP cholestenol delta-isomerase. Retrieved 16 October 2026, from https://dantelabs.com/genes/ebp

Vancouver

Dante Labs. EBP gene: EBP cholestenol delta-isomerase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ebp

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