Gene
TXNDC15
thioredoxin domain containing 15
- HGNC 20652(opens in a new tab)
- Ensembl gene ENSG00000113621(opens in a new tab)
- NCBI Gene 79770(opens in a new tab)
Summary
- Cytogenetic location
- 5q31.1
- Coordinates
- Chromosome 5: 134,874,371–134,901,635 (GRCh38)
- Exons
- 5 exons across 27.3 kb
- Protein
- 360 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- TMX5, FLJ22625, 2310047H23Rik
- Previous symbols
- C5orf14
- MANE Select transcript
- ENST00000358387.9NM_024715.4
- 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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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 TXNDC15 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 3.1 kb of the gene's 27.3 kb; 1,083 of those bases code for the protein.
How a genome test reads TXNDC15
3
positions in TXNDC15 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 27.3 kb of TXNDC15, introns included, not only the 3.1 kb of exons.
Traits linked to TXNDC15
The Human Phenotype Ontology lists these as features of the rare conditions TXNDC15 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Abnormal chorioretinal morphology
- Abnormally small eyeball
- Absent/small iris
- Clouding of the lens of the eye
- Cornea of eye less than 10mm in diameter
- Hardening of skin and connective tissue
- Optic atrophy
- Wide-set eyes
Show 1 more trait
Abnormality of the genitourinary system
- Polycystic kidney dysplasia
- Multicystic kidney dysplasia
- Absent uterus
- Ambiguous external genitalia
- Undescended testes
- Double ureter
- Male pseudohermaphroditism
- True hermaphroditism
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.). TXNDC15 gene: thioredoxin domain containing 15. Retrieved 16 October 2026, from https://dantelabs.com/genes/txndc15
Dante Labs. TXNDC15 gene: thioredoxin domain containing 15 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/txndc15
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