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Gene

ELP4

elongator acetyltransferase complex subunit 4

Summary

Cytogenetic location
11p13
Coordinates
Chromosome 11: 31,509,767–31,790,324 (GRCh38)
Exons
10 exons across 280.6 kb
Protein
424 amino acids
Inheritance
Autosomal dominant
Also known as
PAXNEB
Previous symbols
C11orf19
MANE Select transcript
ENST00000640961.2NM_019040.5
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 reports relevant to this gene

  • Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & Aniridia

    • AniridiaAutosomal dominant

      A dominant condition, usually caused by changes in or deletions of PAX6, in which the iris is partly or completely absent, often with reduced vision and nystagmus.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Regular monitoring for glaucoma, cataract and corneal changes is recommended; when a deletion also includes the nearby WT1 gene, children need screening for Wilms tumour.

  • Kidney Cancer

    • Primary or metastatic malignant neoplasm involving the kidney.

      • 1 GenCC submitter rates it definitive or strong

  • Urinary and Renal System Tumour

    • Urinary System Neoplasm

      A benign or malignant, primary or metastatic neoplasm involving the urinary system.

      • 1 GenCC submitter rates it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How ELP4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Stretches short reads find hard
Chromosome 11, with a bracket where ELP4 sits. ELP4 and 6 genes near it on chromosome 11, from 31,150,046 to 32,150,045.Chromosome 1111p13p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2531.2 Mb31.4 Mb31.6 Mb31.8 Mb32 MbDCDC1: 30,830,369–31,369,810, reverse strandDCDC1DNAJC24: 31,369,799–31,432,835, forward strandDNAJC24IMMP1L: 31,432,399–31,509,656, reverse strandIMMP1LELP4: 31,509,767–31,790,324, forward strandELP4PAX6: 31,784,779–31,817,967, reverse strandPAX6: 31,812,391–32,104,665, forward strandRCN1: 32,090,968–32,107,639, forward strandRCN1Diagram of ELP4: 10 exons on the forward strand of chromosome 11Exon 1: 31,509,767–31,510,007, 241 basesExon 2: 31,520,056–31,520,091, 36 basesExon 3: 31,539,662–31,539,783, 122 basesExon 4: 31,594,770–31,594,901, 132 basesExon 5: 31,603,768–31,603,907, 140 basesExon 6: 31,627,110–31,627,194, 85 basesExon 7: 31,632,217–31,632,405, 189 basesExon 8: 31,647,741–31,647,849, 109 basesExon 9: 31,650,115–31,650,221, 107 basesExon 10: 31,783,393–31,790,324, 6,932 bases12468105′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 8.1 kb of the gene's 280.6 kb; 1,275 of those bases code for the protein.

How a genome test reads ELP4

1

position in ELP4 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 280.6 kb of ELP4, introns included, not only the 8.1 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.). ELP4 gene: elongator acetyltransferase complex subunit 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/elp4

Vancouver

Dante Labs. ELP4 gene: elongator acetyltransferase complex subunit 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/elp4

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