Gene
TECPR2
tectonin beta-propeller repeat containing 2
- HGNC 19957(opens in a new tab)
- Ensembl gene ENSG00000196663(opens in a new tab)
- NCBI Gene 9895(opens in a new tab)
Summary
- Cytogenetic location
- 14q32.33
- Coordinates
- Chromosome 14: 102,362,941–102,502,477 (GRCh38)
- Exons
- 20 exons across 139.5 kb
- Protein
- 1,411 amino acids
- Inheritance
- Autosomal recessive
- Previous symbols
- KIAA0329
- MANE Select transcript
- ENST00000359520.12NM_014844.5
- 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
Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)
- Hereditary Sensory and Autonomic Neuropathy
A group of neuropathies, including familial dysautonomia (ELP1), HSAN1 (SPTLC1/SPTLC2), HSAN2 (WNK1, RETREG1) and congenital insensitivity to pain (NTRK1, SCN9A, PRDM12), most of which are recessive while HSAN1 is dominant.
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Protection against unnoticed injuries, burns and infections, management of autonomic symptoms, and carrier testing for relatives (familial dysautonomia is included in Ashkenazi Jewish carrier screening).
Hereditary Spastic Paraplegia
- Hereditary Spastic Paraplegia 49Autosomal recessive
Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene.
- 4 GenCC submitters rate it definitive or strong
- Hereditary Spastic Paraplegia (All Types)
One of 66 genes linked to it
Umbrella term covering all hereditary spastic paraplegias, including SPG4 (SPAST), the most common dominant form, and SPG5A, SPG6, SPG10, SPG18, SPG30 and SPG31.
- 4 GenCC submitters rate 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 TECPR2 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 8.7 kb of the gene's 139.5 kb; 4,236 of those bases code for the protein.
How a genome test reads TECPR2
124
positions in TECPR2 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 139.5 kb of TECPR2, introns included, not only the 8.7 kb of exons.
Traits linked to TECPR2
The Human Phenotype Ontology lists these as features of the rare conditions TECPR2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Absent reflexes
- Degeneration of cerebrum
- Global developmental delay
- Inability to coordinate movements when walking
- Intellectual disability
- Underdevelopment of part of brain called corpus callosum
- Difficulty articulating speech
- Grand mal seizures
Show 3 more traits
Abnormality of head or neck
- Abnormally small head
- Broad head shape
- Broad neck
- Decreased facial expressions
- Dental crowding
- Low frontal hairline
- Round face
- Short neck
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.). TECPR2 gene: tectonin beta-propeller repeat containing 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/tecpr2
Dante Labs. TECPR2 gene: tectonin beta-propeller repeat containing 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tecpr2
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