Gene
TBX3
T-box transcription factor 3
- HGNC 11602↗(opens in a new tab)
- Ensembl gene ENSG00000135111↗(opens in a new tab)
- NCBI Gene 6926↗(opens in a new tab)
Summary
- Cytogenetic location
- 12q24.21
- Coordinates
- Chromosome 12: 114,670,255–114,684,175 (GRCh38)
- Exons
- 7 exons across 13.9 kb
- Protein
- 723 amino acids
- Also known as
- TBX3-ISO, XHL
- Previous symbols
- UMS
- MANE Select transcript
- ENST00000349155.7NM_005996.4
- 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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No Genome Test report reads TBX3 yet. The test sequences your whole genome, so your data includes it all the same.
How TBX3 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 13.9 kb; 2,172 of those bases code for the protein.
How a genome test reads TBX3
23
positions in TBX3 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 13.9 kb of TBX3, introns included, not only the 4.7 kb of exons.
Traits linked to TBX3
The Human Phenotype Ontology lists these as features of the rare conditions TBX3 can cause. Each trait's page lists the other genes linked to it.
Abnormality of limbs
- Abnormalities of the fingers
- Absence/underdevelopment of inner forearm bone
- Abnormality of the wrist
- Absent 3rd long bone of hand
- Absent 4th long bone of hand
- Absent 5th long bone of hand
- Absent little finger
- Absent middle finger
Show 19 more traits
- Absent ring finger
- Aplasia of the ulna
- Elbow flexion contracture
- Short 5th finger
- Abnormal humerus morphology
- Abnormal morphology of the radius
- Abnormal shape of long bones of hand
- Absent hand
- Aplasia of the pectoralis major muscle
- Extra little finger
- Permanent flexion of the finger
- Short outermost finger bone
- Deformed radius
- Missing outer large bone of forearm
- Short 4th toe
- Short humerus
- Short little toe
- Underdeveloped inner large forearm bone
- Underdeveloped outer large forearm bone
Abnormality of the genitourinary system
- Short penis
- Abnormality of the uterus
- Decreased fertility
- Heart shaped uterus
- Smaller than typical growth of scrotum
- Underdeveloped penis
- Undescended testes
- Small kidneys
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.
- 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.). TBX3 gene: T-box transcription factor 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/tbx3
Dante Labs. TBX3 gene: T-box transcription factor 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tbx3
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