Gene
SUZ12
SUZ12 polycomb repressive complex 2 subunit
- HGNC 17101↗(opens in a new tab)
- Ensembl gene ENSG00000178691↗(opens in a new tab)
- NCBI Gene 23512↗(opens in a new tab)
Summary
- Cytogenetic location
- 17q11.2
- Coordinates
- Chromosome 17: 31,937,007–32,001,038 (GRCh38)
- Exons
- 16 exons across 64 kb
- Protein
- 739 amino acids
- Also known as
- JJAZ1, KIAA0160, CHET9
- MANE Select transcript
- ENST00000322652.10NM_015355.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads SUZ12 yet. The test sequences your whole genome, so your data includes it all the same.
How SUZ12 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 4.5 kb of the gene's 64 kb; 2,220 of those bases code for the protein.
How a genome test reads SUZ12
16
positions in SUZ12 where ClinVar classes a change as pathogenic or likely pathogenic
5 of them (31%) fall in regions short reads find hard.
- Low mappability (4 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
- Segmental duplications (5 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
A whole genome covers all 64 kb of SUZ12, introns included, not only the 4.5 kb of exons.
Traits linked to SUZ12
The Human Phenotype Ontology lists these as features of the rare conditions SUZ12 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Big calvaria
- Broad forehead
- Little lower jaw
- Long philtrum
- Receding chin
- Deep philtrum
- Downward slanting of the opening between the eyelids
- Prominent brow
Show 4 more traits
Abnormality of limbs
- Abnormality of the wide portion of a long bone
- Broad foot
- Broad thumb
- Large hands
- Permanent flexion of the finger
- Club feet
- Finger syndactyly
- Gap between 1st and 2nd toes
Show 3 more traits
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). SUZ12 gene: SUZ12 polycomb repressive complex 2 subunit. Retrieved 17 October 2026, from https://dantelabs.com/genes/suz12
Dante Labs. SUZ12 gene: SUZ12 polycomb repressive complex 2 subunit [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/suz12
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