Gene
SPEN
spen family transcriptional repressor
- HGNC 17575↗(opens in a new tab)
- Ensembl gene ENSG00000065526↗(opens in a new tab)
- NCBI Gene 23013↗(opens in a new tab)
Summary
- Cytogenetic location
- 1p36.21-p36.13
- Coordinates
- Chromosome 1: 15,847,707–15,940,456 (GRCh38)
- Exons
- 15 exons across 92.8 kb
- Protein
- 3,664 amino acids
- Also known as
- KIAA0929, MINT, SHARP, RBM15C
- MANE Select transcript
- ENST00000375759.8NM_015001.3
- Locus type
- gene with protein product
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads SPEN yet. The test sequences your whole genome, so your data includes it all the same.
How SPEN 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 12.4 kb of the gene's 92.8 kb; 10,995 of those bases code for the protein.
How a genome test reads SPEN
50
positions in SPEN 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 92.8 kb of SPEN, introns included, not only the 12.4 kb of exons.
Traits linked to SPEN
The Human Phenotype Ontology lists these as features of the rare conditions SPEN can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Horizontal eyebrow
- Long philtrum
- Midface retrusion
- Pointed chin
- Wide nasal bridge
- Abnormality of the eyebrow
- Abnormally small head
- Broad head shape
Show 37 more traits
- Delayed cranial suture closure
- Depressed nasal bridge
- Eye folds
- Flat nose
- Narrow mouth
- Abnormality of the neck
- Broad opening between the eyelids
- Bulbous nose
- Coarse facial features
- Dental crowding
- Downward slanting of the opening between the eyelids
- Drooling
- Frontal bossing
- Full lips
- Fullness around the eyes
- High frontal hairline
- High palate
- High, narrow palate
- Highly arched eyebrow
- Little lower jaw
- Long eyebrows
- Long eyelashes
- Long face
- Low frontal hairline
- Monobrow
- Narrow eyelid opening
- Narrow forehead
- Nasal tip, upturned
- Oval face
- Prominent nasal bridge
- Prominent nasal tip
- Receding chin
- Short philtrum
- Thick eyebrow
- Thin red part of the upper lip
- Upward slanting of the opening between the eyelids
- Wide mouth
Abnormality of the nervous system
- Global developmental delay
- Intellectual disability
- Abnormal gait
- Abnormal speech pattern
- Absent speech development
- Agenesis of corpus callosum
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Delayed speech and language development
Show 22 more traits
- EEG abnormality
- Poor speech
- Ventriculomegaly
- Abnormality of balance
- Aggressive behavior
- Autism
- Autism spectrum disorder
- Behavioral abnormality
- Epilepsy
- Repetitive movements
- Self-injurious behavior
- Ataxia
- Attention deficit
- Cancer of early nerve cells
- Cranial nerve paralysis
- Gray matter heterotopia
- Impulsivity
- Increased appetite
- Motor delay
- Paralysis or weakness of one side of body
- Poor eye contact
- Tremor
Abnormality of the cardiovascular system
- Abnormal cardiovascular system morphology
- Abnormal cardiac septum morphology
- Abnormal heart valve morphology
- Abnormality of the spleen
- Aortic arch aneurysm
- Hole in heart wall separating two lower heart chambers
- Patent ductus arteriosus
- Spider veins
Show 3 more traits
Abnormality of the eye
- Deeply set eye
- Abnormality of vision
- Cross-eyed
- Severe farsightedness
- Absent pigmentation in the eye
- Clouding of the lens of the eye
- Involuntary, rapid, rhythmic eye movements
- Optic atrophy
Show 2 more traits
Abnormality of the musculoskeletal system
- Low muscle tone
- 11 pairs of ribs
- Abnormal formation of the hip
- Cleft ribs
- Hunched back
- Joint stiffness
- Muscle tissue disease
- Narrow spinal canal
Show 2 more traits
Abnormality of limbs
- Permanent flexion of the finger
- Short fingers or toes
- Short foot
- Curvature of little finger
- Dropped arches
- Duplication of bones of the toes
- High-arched foot
- Left and right leg differ in length or width
Show 1 more trait
Abnormality of the digestive system
- Acid reflux
- Constipation
- Feeding difficulties in infancy
- Poor swallowing
- Abnormality of the anus
- Abnormality of the intestine
- Abnormality of the liver
- Annular pancreas
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.
- 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.). SPEN gene: spen family transcriptional repressor. Retrieved 17 October 2026, from https://dantelabs.com/genes/spen
Dante Labs. SPEN gene: spen family transcriptional repressor [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/spen
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