Gene
SPTBN2
spectrin beta, non-erythrocytic 2
- HGNC 11276(opens in a new tab)
- Ensembl gene ENSG00000173898(opens in a new tab)
- NCBI Gene 6712(opens in a new tab)
Summary
- Cytogenetic location
- 11q13.2
- Coordinates
- Chromosome 11: 66,682,497–66,729,216 (GRCh38)
- Exons
- 38 exons across 46.7 kb
- Protein
- 2,390 amino acids
- Inheritance
- Autosomal dominant Autosomal recessive
- Previous symbols
- SCA5
- MANE Select transcript
- ENST00000533211.6NM_006946.4
- 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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Get my Genome TestCurated reports relevant to this gene
Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)
- Autosomal Dominant Cerebellar AtaxiaAutosomal dominant
A group of dominantly inherited ataxias, including SCA1, SCA2, SCA3 (Machado-Joseph disease), SCA6, SCA7, SCA17, SCA27B and DRPLA, caused by repeat expansions or point variants in genes such as ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 and FGF14.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Genetic counselling and presymptomatic testing for relatives, physiotherapy and symptom management; some forms, such as SCA27B, may respond to specific medication.
Broader groupings
Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)
- Autosomal Recessive Cerebellar AtaxiaAutosomal recessive
One of 57 genes linked to it
A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Ataxia with vitamin E deficiency (TTPA) is treatable with vitamin E supplements; other forms are managed with physiotherapy and symptom care, and relatives can be offered carrier testing.
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.
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How SPTBN2 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 11.1 kb of the gene's 46.7 kb; 7,173 of those bases code for the protein.
How a genome test reads SPTBN2
32
positions in SPTBN2 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 46.7 kb of SPTBN2, introns included, not only the 11.1 kb of exons.
Traits linked to SPTBN2
The Human Phenotype Ontology lists these as features of the rare conditions SPTBN2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Ataxia
- Degeneration of cerebellum
- Delayed speech and language development
- Difficulty articulating speech
- Difficulty performing quick and alternating movements
- Global developmental delay
- Increased reflexes
- Intention tremor
Show 17 more traits
- Lack of coordination of movement
- Motor delay
- Small cerebellum
- Unsteady walk
- Wide based walk
- Abnormal gait
- Incoordination
- Progressive cerebellar ataxia
- Slurred speech
- Instability or lack of coordination of central trunk muscles
- Intellectual disability, mild
- Progressive gait ataxia
- Cognitive impairment
- Impaired vibratory sensation
- Inability to coordinate movements when walking
- Limb ataxia
- Upper motor neuron dysfunction
Abnormality of the eye
- Cross-eyed
- Horizontal jerk nystagmus
- Hypometric saccades
- Involuntary, rapid, rhythmic eye movements
- Jerky ocular pursuit movements
- Rotary nystagmus
- Double vision
- Horizontal nystagmus
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.
- 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.). SPTBN2 gene: spectrin beta, non-erythrocytic 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/sptbn2
Dante Labs. SPTBN2 gene: spectrin beta, non-erythrocytic 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/sptbn2
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