AtlasGene
TTC5
tetratricopeptide repeat domain 5
- HGNC 19274↗(opens in a new tab)
- Ensembl gene ENSG00000136319↗(opens in a new tab)
- NCBI Gene 91875↗(opens in a new tab)
Summary
- Cytogenetic location
- 14q11.2
- Coordinates
- Chromosome 14: 20,286,227–20,305,951 (GRCh38)
- Exons
- 10 exons across 19.7 kb
- Protein
- 440 amino acids
- Also known as
- Strap
- MANE Select transcript
- ENST00000258821.8NM_138376.3
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
AtlasThis page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/genes/ttc5.json"
page <- fromJSON(url)
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How TTC5 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 4.7 kb of the gene's 19.7 kb; 1,323 of those bases code for the protein.
Sequencing TTC5
6
positions in TTC5 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 19.7 kb of TTC5, introns included, not only the 4.7 kb of exons.
ClinVar pathogenic variants (6)
The TTC5 variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.
- Pathogenic/likely pathogenic 1
- Likely pathogenic 5
| Variant | Conditions | ClinVar classification | Review status |
|---|---|---|---|
| NM_138376.3(TTC5):c.787C>T (p.Arg263Ter) (opens in a new tab) | neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_138376.3(TTC5):c.79C>T (p.Arg27Ter) (opens in a new tab) | neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism | Likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_138376.3(TTC5):c.1225C>T (p.Arg409Ter) (opens in a new tab) | neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_138376.3(TTC5):c.742T>C (p.Ser248Pro) (opens in a new tab) | neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_138376.3(TTC5):c.631dup (p.Ala211fs) (opens in a new tab) | neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_138376.3(TTC5):c.139C>T (p.Gln47Ter) (opens in a new tab) | neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
Traits linked to TTC5
The Human Phenotype Ontology lists these as features of the rare conditions TTC5 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.
- 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 2026.10.18-8b139e39.
Cite this page
Dante Labs. (n.d.). TTC5 gene: tetratricopeptide repeat domain 5. Retrieved 18 October 2026, from https://dantelabs.com/genes/ttc5
Dante Labs. TTC5 gene: tetratricopeptide repeat domain 5 [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/ttc5
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