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Gene

TCTN2

tectonic family member 2

Summary

Cytogenetic location
12q24.31
Coordinates
Chromosome 12: 123,671,113–123,708,399 (GRCh38)
Exons
18 exons across 37.3 kb
Protein
697 amino acids
Inheritance
Autosomal recessive
Also known as
FLJ12975, TECT2, MKS8, JBTS24
Previous symbols
C12orf38
MANE Select transcript
ENST00000303372.7NM_024809.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • 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.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong

  • Meckel Syndrome

    • Autosomal recessive

      A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

      • 2 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 TCTN2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where TCTN2 sits. TCTN2 and 17 genes near it on chromosome 12, from 123,189,756 to 124,189,755.Chromosome 1212q24.31p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.33123.2 Mb123.4 Mb123.6 Mb123.8 Mb124 MbMPHOSPH9: 123,152,320–123,244,014, reverse strandMPHOSPH9MTRFR: 123,232,142–123,258,079, forward strandMTRFRCDK2AP1: 123,250,112–123,272,334, reverse strandCDK2AP1SBNO1: 123,289,109–123,365,220, reverse strandSBNO1KMT5A: 123,384,087–123,409,353, forward strandKMT5ARILPL2: 123,409,258–123,436,756, reverse strandRILPL2SNRNP35: 123,458,078–123,473,154, forward strandSNRNP35RILPL1: 123,467,802–123,534,417, reverse strandRILPL1TMED2: 123,584,514–123,598,582, forward strandTMED2DDX55: 123,602,073–123,620,943, forward strandDDX55EIF2B1: 123,620,406–123,633,766, reverse strandEIF2B1GTF2H3: 123,633,739–123,662,604, forward strandGTF2H3TCTN2: 123,671,113–123,708,399, forward strandTCTN2ATP6V0A2: 123,712,334–123,761,760, forward strandATP6V0A2DNAH10: 123,761,878–123,935,720, forward strandDNAH10CCDC92: 123,918,660–123,974,253, reverse strandCCDC92ZNF664: 123,971,745–124,015,445, forward strandZNF664RFLNA: 123,973,241–124,316,024, forward strandRFLNADiagram of TCTN2: 18 exons on the forward strand of chromosome 12Exon 1: 3 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 6: 6 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 8: 4 known disease-causing sitesExon 10: 3 known disease-causing sitesExon 11: 5 known disease-causing sitesExon 12: 4 known disease-causing sitesExon 13: 3 known disease-causing sitesExon 14: 2 known disease-causing sitesExon 15: 4 known disease-causing sitesExon 16: 8 known disease-causing sitesExon 17: 1 known disease-causing siteExon 1: 123,671,113–123,671,322, 210 basesExon 2: 123,671,507–123,671,614, 108 basesExon 3: 123,672,056–123,672,132, 77 basesExon 4: 123,673,615–123,673,810, 196 basesExon 5: 123,679,189–123,679,289, 101 basesExon 6: 123,686,836–123,687,035, 200 basesExon 7: 123,688,051–123,688,177, 127 basesExon 8: 123,690,533–123,690,674, 142 basesExon 9: 123,692,658–123,692,723, 66 basesExon 10: 123,694,842–123,694,976, 135 basesExon 11: 123,695,220–123,695,297, 78 basesExon 12: 123,696,415–123,696,495, 81 basesExon 13: 123,697,087–123,697,198, 112 basesExon 14: 123,699,704–123,699,810, 107 basesExon 15: 123,704,532–123,704,688, 157 basesExon 16: 123,706,726–123,706,851, 126 basesExon 17: 123,706,985–123,707,073, 89 basesExon 18: 123,707,604–123,708,399, 796 bases151015185′3′

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 2.9 kb of the gene's 37.3 kb; 2,094 of those bases code for the protein.

How a genome test reads TCTN2

68

positions in TCTN2 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 37.3 kb of TCTN2, introns included, not only the 2.9 kb of exons.

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

APA

Dante Labs. (n.d.). TCTN2 gene: tectonic family member 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/tctn2

Vancouver

Dante Labs. TCTN2 gene: tectonic family member 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tctn2

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