Gene
TCTN3
tectonic family member 3
- HGNC 24519↗(opens in a new tab)
- Ensembl gene ENSG00000119977↗(opens in a new tab)
- NCBI Gene 26123↗(opens in a new tab)
Summary
- Cytogenetic location
- 10q24.1
- Coordinates
- Chromosome 10: 95,663,401–95,693,927 (GRCh38)
- Exons
- 14 exons across 30.5 kb
- Protein
- 607 amino acids
- Also known as
- DKFZP564D116, TECT3, JBTS18
- Previous symbols
- C10orf61
- MANE Select transcript
- ENST00000371217.10NM_015631.6
- 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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Joubert Syndrome And Related Disorders
- Joubert Syndrome
A ciliopathy defined by a malformation of the cerebellum and brainstem (the molar tooth sign), with low muscle tone, developmental delay and abnormal eye movements, sometimes with kidney, liver or eye involvement.
- 2 GenCC submitters rate it definitive or strong
How TCTN3 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 2.5 kb of the gene's 30.5 kb; 1,824 of those bases code for the protein.
How a genome test reads TCTN3
55
positions in TCTN3 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 30.5 kb of TCTN3, introns included, not only the 2.5 kb of exons.
Genes linked to the same conditions
- AHI1Abelson helper integration site 1Shares 1 condition
- ARL13BARF like GTPase 13BShares 1 condition
- ARL3ARF like GTPase 3Shares 1 condition
- ARMC9armadillo repeat containing 9Shares 1 condition
- B9D1B9 domain containing 1Shares 1 condition
- B9D2B9 domain containing 2Shares 1 condition
- CC2D2Acoiled-coil and C2 domain containing 2AShares 1 condition
- CEP104centrosomal protein 104Shares 1 condition
- CEP120centrosomal protein 120Shares 1 condition
- CEP290centrosomal protein 290Shares 1 condition
- CEP41centrosomal protein 41Shares 1 condition
- CPLANE1ciliogenesis and planar polarity effector complex subunit 1Shares 1 condition
Traits linked to TCTN3
The Human Phenotype Ontology lists these as features of the rare conditions TCTN3 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Abnormal oral frenulum morphology
- Abnormality of lining of mouth
- Abnormality of the gums
- Abnormality of the tongue
- Abnormally small head
- Aplasia/Hypoplasia of the mandible
- Blockage of the rear opening of the nasal cavity
- Central cleft upper lip
Show 33 more traits
- Cleft of the mouth
- Encephalocele
- Flat nose
- Little lower jaw
- Oral synechia
- Receding chin
- Short nose
- Wide nose
- Bifid uvula
- Brain tissue sticks out through back of skull
- Broad nasal tip
- Bumpy tongue
- Cleft palate
- Decreased width of the skull
- Eye folds
- Frontal bossing
- Full cheeks
- Hamartoma of tongue
- High palate
- High, narrow palate
- Long face
- Sloping forehead
- Submucous cleft hard palate
- Tongue nodules
- Aplasia/Hypoplasia of the tongue
- Dandy-Walker malformation
- Grooved tongue
- Highly arched eyebrow
- Midline notch of upper alveolar ridge
- Nasal tip, upturned
- Prominent nasal bridge
- Short philtrum
- Accessory oral frenulum
Abnormality of limbs
- Absent/small shankbone
- Extra little finger
- Extra thumb
- Extra toe attached near the little toe
- Finger syndactyly
- Outward bow-leggedness
- Postaxial polydactyly
- Smaller or shorter than typical limbs
Show 18 more traits
- Curvature of finger
- Permanent flexion of the finger
- Preaxial polydactyly
- Short fingers or toes
- Split hand
- Talipes
- Trident pelvis
- Webbed fingers or toes
- Bowing of the long bones
- Club feet
- Duplication of bones of the toes
- Extra finger
- Mesoaxial polydactyly
- Y-shaped central long bones of hand
- Curvature of digit
- Fused toes
- Short finger
- Short shinbone
Abnormality of the nervous system
- Ataxia
- Cerebellar vermis hypoplasia
- Global developmental delay
- Intellectual disability
- Specific learning disability
- Abnormal gait
- Cerebral cortical hemiatrophy
- Decrease in size of the outer layer of the brain due to loss of brain cells
Show 17 more traits
- Hypoplasia of olfactory tract
- Lobar holoprosencephaly
- Molar tooth sign on MRI
- Subcortical cerebral atrophy
- Abnormality of neuronal migration
- Agenesis of cerebellar vermis
- Agenesis of corpus callosum
- Anencephaly
- Aplasia/Hypoplasia of the corpus callosum
- Arrhinencephaly
- Epilepsy
- Hypothalamic hamartoma
- More grooves in brain
- Too much cerebrospinal fluid in the brain
- Tremor
- Cavity within brain
- Degeneration of cerebrum
Abnormality of the digestive system
- Excessive buildup of connective tissue and scarring of liver at birth
- Feeding difficulties
- Feeding difficulties in infancy
- Intrahepatic biliary atresia
- Abnormal connection between rectum and vagina
- Absent anus
- Cystic liver disease
- Enlarged colon lacking nerve cells
Show 3 more traits
Abnormality of the musculoskeletal system
- Abnormal shape of joints
- Joint dislocation
- Low muscle tone
- Generalized decreased muscle tone
- Abnormal vertebral body morphology
- Kyphoscoliosis
- Permanent flexion of the finger or toe
- Scoliosis
Show 2 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.). TCTN3 gene: tectonic family member 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/tctn3
Dante Labs. TCTN3 gene: tectonic family member 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tctn3
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