Gene
TSPEAR
thrombospondin type laminin G domain and EAR repeats
- HGNC 1268(opens in a new tab)
- Ensembl gene ENSG00000175894(opens in a new tab)
- NCBI Gene 54084(opens in a new tab)
Summary
- Cytogenetic location
- 21q22.3
- Coordinates
- Chromosome 21: 44,497,893–44,711,572 (GRCh38)
- Exons
- 12 exons across 213.7 kb
- Protein
- 669 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- MGC11251, TSP-EAR
- Previous symbols
- C21orf29, DFNB98
- MANE Select transcript
- ENST00000323084.9NM_144991.3
- 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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Get my Genome TestCurated reports relevant to this gene
Ectodermal Dysplasias
- Ectodermal dysplasia 14, hair/tooth typeAutosomal recessive
A TSPEAR disorder with missing teeth and sparse hair, sometimes with reduced sweating.
- 3 GenCC submitters rate it definitive or strong
Hypodontia and Anodontia
- Tooth Agenesis (Hypodontia)
- 1 GenCC submitter rates it definitive or strong
Inheritance
- 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 TSPEAR 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 kb of the gene's 213.7 kb; 2,010 of those bases code for the protein.
How a genome test reads TSPEAR
28
positions in TSPEAR 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 213.7 kb of TSPEAR, introns included, not only the 4 kb of exons.
Traits linked to TSPEAR
The Human Phenotype Ontology lists these as features of the rare conditions TSPEAR can cause. Each trait's page lists the other genes linked to it.
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.). TSPEAR gene: thrombospondin type laminin G domain and EAR repeats. Retrieved 17 October 2026, from https://dantelabs.com/genes/tspear
Dante Labs. TSPEAR gene: thrombospondin type laminin G domain and EAR repeats [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tspear
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