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Gene

TTC7A

tetratricopeptide repeat domain 7A

Summary

Cytogenetic location
2p21
Coordinates
Chromosome 2: 46,941,224–47,076,123 (GRCh38)
Exons
20 exons across 134.9 kb
Protein
858 amino acids
Inheritance
Autosomal recessive
Also known as
KIAA1140
Previous symbols
TTC7
MANE Select transcript
ENST00000319190.11NM_020458.4
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 report relevant to this gene

  • Congenital Intestinal Atresia & Short Bowel

    • Multiple intestinal atresiaAutosomal recessive

      Multiple blockages along the intestine present at birth, caused by TTC7A variants and often accompanied by combined immunodeficiency and very-early-onset inflammatory bowel disease.

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

      Knowing the cause prompts immune evaluation, which affects decisions about stem cell or intestinal transplant.

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 TTC7A is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where TTC7A sits. TTC7A and 11 genes near it on chromosome 2, from 46,508,674 to 47,508,673.Chromosome 22p21p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.346.6 Mb46.8 Mb47 Mb47.2 Mb47.4 MbATP6V1E2: 46,490,750–46,543,287, reverse strandATP6V1E2RHOQ: 46,541,806–46,602,046, forward strandRHOQPIGF: 46,580,937–46,617,067, reverse strandPIGFCRIPT: 46,616,416–46,685,037, forward strandCRIPTSOCS5: 46,698,423–46,781,466, forward strandSOCS5MCFD2: 46,895,793–46,941,855, reverse strandMCFD2TTC7A: 46,941,224–47,076,123, forward strandTTC7ASTPG4: 47,045,538–47,155,308, reverse strandSTPG4: 47,065,941–47,176,511, reverse strandCALM2: 47,160,084–47,176,921, reverse strandCALM2EPCAM: 47,345,158–47,387,601, forward strandEPCAMMSH2: 47,403,067–47,663,146, forward strandMSH2Diagram of TTC7A: 20 exons on the forward strand of chromosome 2Exon 1: 2 known disease-causing sitesExon 2: 7 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 8: 3 known disease-causing sitesExon 9: 3 known disease-causing sitesExon 10: 4 known disease-causing sitesExon 11: 2 known disease-causing sitesExon 12: 3 known disease-causing sitesExon 13: 1 known disease-causing siteExon 14: 5 known disease-causing sitesExon 15: 2 known disease-causing sitesExon 16: 2 known disease-causing sitesExon 18: 4 known disease-causing sitesExon 19: 4 known disease-causing sitesExon 20: 9 known disease-causing sitesExon 1: 46,941,224–46,941,725, 502 basesExon 2: 46,950,363–46,950,526, 164 basesExon 3: 46,956,839–46,957,007, 169 basesExon 4: 46,974,973–46,975,103, 131 basesExon 5: 46,978,792–46,978,907, 116 basesExon 6: 46,993,450–46,993,528, 79 basesExon 7: 46,994,357–46,994,514, 158 basesExon 8: 46,995,136–46,995,199, 64 basesExon 9: 47,005,922–47,006,059, 138 basesExon 10: 47,006,641–47,006,724, 84 basesExon 11: 47,011,331–47,011,435, 105 basesExon 12: 47,021,862–47,021,979, 118 basesExon 13: 47,023,408–47,023,465, 58 basesExon 14: 47,024,287–47,024,359, 73 basesExon 15: 47,029,224–47,029,384, 161 basesExon 16: 47,046,315–47,046,431, 117 basesExon 17: 47,049,949–47,050,046, 98 basesExon 18: 47,051,746–47,051,880, 135 basesExon 19: 47,060,769–47,060,971, 203 basesExon 20: 47,073,702–47,076,123, 2,422 bases151015205′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 5.1 kb of the gene's 134.9 kb; 2,577 of those bases code for the protein.

How a genome test reads TTC7A

76

positions in TTC7A 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 134.9 kb of TTC7A, introns included, not only the 5.1 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.). TTC7A gene: tetratricopeptide repeat domain 7A. Retrieved 16 October 2026, from https://dantelabs.com/genes/ttc7a

Vancouver

Dante Labs. TTC7A gene: tetratricopeptide repeat domain 7A [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ttc7a

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