Gene
SETD5
SET domain containing 5
- HGNC 25566↗(opens in a new tab)
- Ensembl gene ENSG00000168137↗(opens in a new tab)
- NCBI Gene 55209↗(opens in a new tab)
Summary
- Cytogenetic location
- 3p25.3
- Coordinates
- Chromosome 3: 9,397,615–9,478,154 (GRCh38)
- Exons
- 23 exons across 80.5 kb
- Protein
- 1,442 amino acids
- Also known as
- FLJ10707, SETD5A
- MANE Select transcript
- ENST00000402198.7NM_001080517.3
- 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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Intellectual Disability
One of 233 genes linked to it
- 3 GenCC submitters rate it definitive or strong
How SETD5 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 6.9 kb of the gene's 80.5 kb; 4,329 of those bases code for the protein.
How a genome test reads SETD5
147
positions in SETD5 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 80.5 kb of SETD5, introns included, not only the 6.9 kb of exons.
Genes linked to the same conditions
- ACSL4acyl-CoA synthetase long chain family member 4Shares 1 condition
- ADKadenosine kinaseShares 1 condition
- ADNPactivity dependent neuroprotector homeoboxShares 1 condition
- AFF2ALF transcription elongation factor 2Shares 1 condition
- AHDC1AT-hook DNA binding motif containing 1Shares 1 condition
- ALKBH8alkB homolog 8, tRNA methyltransferaseShares 1 condition
- ANK3ankyrin 3Shares 1 condition
- ANKRD11ankyrin repeat domain 11Shares 1 condition
- AP1S2adaptor related protein complex 1 subunit sigma 2Shares 1 condition
- AP2M1adaptor related protein complex 2 subunit mu 1Shares 1 condition
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 1 condition
- ARID1AAT-rich interaction domain 1AShares 1 condition
Traits linked to SETD5
The Human Phenotype Ontology lists these as features of the rare conditions SETD5 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Bulbous nose
- Downturned corners of mouth
- Long philtrum
- Low frontal hairline
- Wide nasal bridge
- Corners of eye widely separated
- Little lower jaw
- Abnormally small head
Show 19 more traits
- Broad head shape
- Cleft palate
- Dental crowding
- Depressed nasal bridge
- Drooling
- Eye folds
- High palate
- Monobrow
- Nasal tip, upturned
- Thin red part of the upper lip
- Upward slanting of the opening between the eyelids
- Decreased volume of lip
- Downward slanting of the opening between the eyelids
- High forehead
- Narrow opening between the eyelids
- Pit in front of the ear
- Short neck
- Triangular face
- Smooth philtrum
Abnormality of the nervous system
- Delayed ability to walk
- Global developmental delay
- Intellectual disability
- Cognitive impairment
- Delayed speech and language development
- Autism spectrum disorder
- Obsessive compulsive behavior
- Epilepsy
Show 1 more trait
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.
- 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
Dante Labs. (n.d.). SETD5 gene: SET domain containing 5. Retrieved 17 October 2026, from https://dantelabs.com/genes/setd5
Dante Labs. SETD5 gene: SET domain containing 5 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/setd5
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