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Gene

SIX5

SIX homeobox 5

Summary

Cytogenetic location
19q13.32
Coordinates
Chromosome 19: 45,764,785–45,769,252 (GRCh38)
Exons
3 exons across 4.5 kb
Protein
739 amino acids
Inheritance
Autosomal dominant
Previous symbols
DMAHP
MANE Select transcript
ENST00000317578.7NM_175875.5
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

  • Branchio-Oto-Renal Spectrum Disorder

    • Autosomal dominant

      A dominant condition, mainly caused by changes in EYA1, SIX1 or SIX5, that causes conductive, sensorineural or mixed hearing loss, ear malformations, neck cysts or pits and, in some people, kidney anomalies.

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

      Knowing about it prompts hearing assessment and kidney ultrasound surveillance, and informs family counselling.

  • Congenital Anomalies of the Kidney and Urinary Tract

    • Branchio-Oto-Renal SyndromeAutosomal dominant

      A condition caused by EYA1 or SIX1 variants affecting the neck, ears and hearing, and kidneys.

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

      Knowing prompts hearing assessment and kidney imaging.

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 SIX5 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 19, with a bracket where SIX5 sits. SIX5 and 35 genes near it on chromosome 19, from 45,267,019 to 46,267,018.Chromosome 1919q13.32p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4345.4 Mb45.6 Mb45.8 Mb46 Mb46.2 MbMARK4: 45,079,288–45,305,284, forward strandMARK4CKM: 45,306,411–45,323,372, reverse strandCKMKLC3: 45,333,434–45,351,537, forward strandKLC3ERCC2: 45,349,773–45,370,918, reverse strandERCC2PPP1R13L: 45,379,634–45,406,367, reverse strandPPP1R13LPOLR1G: 45,406,644–45,410,737, forward strandPOLR1GERCC1: 45,407,333–45,479,055, reverse strandERCC1FOSB: 45,467,989–45,475,179, forward strandFOSBRTN2: 45,485,292–45,497,055, reverse strandRTN2PPM1N: 45,488,777–45,503,129, forward strandPPM1NVASP: 45,506,579–45,527,839, forward strandVASPOPA3: 45,527,767–45,602,212, reverse strandOPA3GPR4: 45,588,565–45,602,556, reverse strandGPR4EML2: 45,606,994–45,645,617, reverse strandEML2GIPR: 45,668,207–45,683,722, forward strandGIPRSNRPD2: 45,677,907–45,692,569, reverse strandSNRPD2QPCTL: 45,692,403–45,703,989, forward strandQPCTLFBXO46: 45,710,624–45,730,931, reverse strandFBXO46MEIOSIN: 45,733,439–45,764,541, forward strandMEIOSINSIX5: 45,764,785–45,769,252, reverse strandSIX5DMPK: 45,769,709–45,782,794, reverse strandDMPK: 45,779,437–45,785,973, reverse strandDMWD: 45,782,944–45,792,949, reverse strandRSPH6A: 45,795,713–45,815,308, reverse strandSYMPK: 45,815,410–45,866,862, reverse strandSYMPKFOXA3: 45,863,989–45,873,798, forward strandFOXA3IRF2BP1: 45,883,608–45,886,141, reverse strandIRF2BP1MYPOP: 45,890,020–45,902,808, reverse strandMYPOPNANOS2: 45,913,214–45,914,778, reverse strandNANOS2NOVA2: 45,933,734–45,974,044, reverse strandNOVA2CCDC61: 45,995,444–46,021,318, forward strandCCDC61PGLYRP1: 46,019,153–46,023,367, reverse strandPGLYRP1IGFL4: 46,039,182–46,077,118, reverse strandIGFL4IGFL2: 46,079,126–46,161,298, forward strandIGFL2IGFL3: 46,120,067–46,124,698, reverse strandIGFL3IGFL1: 46,229,732–46,231,243, forward strandIGFL1Diagram of SIX5: 3 exons on the reverse strand of chromosome 19Exon 1: 1 known disease-causing siteExon 3: 45,764,785–45,766,111, 1,327 basesExon 2: 45,766,350–45,767,155, 806 basesExon 1: 45,768,042–45,769,252, 1,211 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 3.3 kb of the gene's 4.5 kb; 2,220 of those bases code for the protein.

How a genome test reads SIX5

1

position in SIX5 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 4.5 kb of SIX5, introns included, not only the 3.3 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.). SIX5 gene: SIX homeobox 5. Retrieved 16 October 2026, from https://dantelabs.com/genes/six5

Vancouver

Dante Labs. SIX5 gene: SIX homeobox 5 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/six5

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