Gene
SPOP
speckle type BTB/POZ protein
- HGNC 11254↗(opens in a new tab)
- Ensembl gene ENSG00000121067↗(opens in a new tab)
- NCBI Gene 8405↗(opens in a new tab)
Summary
- Cytogenetic location
- 17q21.33
- Coordinates
- Chromosome 17: 49,598,884–49,678,097 (GRCh38)
- Exons
- 10 exons across 79.2 kb
- Protein
- 374 amino acids
- Also known as
- TEF2, BTBD32
- MANE Select transcript
- ENST00000504102.6NM_001007228.2
- 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 SPOP yet. The test sequences your whole genome, so your data includes it all the same.
How SPOP 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 2.9 kb of the gene's 79.2 kb; 1,125 of those bases code for the protein.
How a genome test reads SPOP
10
positions in SPOP 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 79.2 kb of SPOP, introns included, not only the 2.9 kb of exons.
Traits linked to SPOP
The Human Phenotype Ontology lists these as features of the rare conditions SPOP can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Highly arched eyebrow
- Pointed chin
- Small head present at birth
- Smooth philtrum
- Broad head shape
- Bulbous nose
- Corners of eye widely separated
- Depressed nasal bridge
Show 23 more traits
- Downward slanting of the opening between the eyelids
- Eye folds
- Flattened bony protrusion above eyes
- Large forehead
- Long eyelashes
- Low frontal hairline
- Monobrow
- Narrow eyelid opening
- Narrow forehead
- Prominent area between the eyebrows
- Prominent nasal bridge
- Short nose
- Sparse eyebrow
- Both sided cleft lip
- Broad opening between the eyelids
- Decreased volume of lip
- Frontal bossing
- High palate
- Little lower jaw
- Nasal tip, upturned
- Prominent nose
- Right and left cleft palate
- Triangular face
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.). SPOP gene: speckle type BTB/POZ protein. Retrieved 17 October 2026, from https://dantelabs.com/genes/spop
Dante Labs. SPOP gene: speckle type BTB/POZ protein [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/spop
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