Gene
TWIST2
twist family bHLH transcription factor 2
- HGNC 20670↗(opens in a new tab)
- Ensembl gene ENSG00000233608↗(opens in a new tab)
- NCBI Gene 117581↗(opens in a new tab)
Summary
- Cytogenetic location
- 2q37.3
- Coordinates
- Chromosome 2: 238,848,085–238,910,534 (GRCh38)
- Exons
- 2 exons across 62.5 kb
- Protein
- 160 amino acids
- Also known as
- DERMO1, Dermo-1, bHLHa39
- MANE Select transcript
- ENST00000612363.2NM_001271893.4
- 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 TWIST2 yet. The test sequences your whole genome, so your data includes it all the same.
How TWIST2 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 1.3 kb of the gene's 62.5 kb; 483 of those bases code for the protein.
How a genome test reads TWIST2
1
position in TWIST2 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 62.5 kb of TWIST2, introns included, not only the 1.3 kb of exons.
Traits linked to TWIST2
The Human Phenotype Ontology lists these as features of the rare conditions TWIST2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Bitemporal forceps marks
- Bulbous nose
- Fullness around the eyes
- Wide mouth
- Abnormality of the face
- Absent eyebrow
- Absent eyelashes
- Absent eyelids
Show 44 more traits
- Cheekbone underdevelopment
- Corners of eye widely separated
- Delayed eruption of teeth
- Depressed nasal bridge
- Dimple chin
- Distichiasis
- Downturned corners of mouth
- Everted eyelid
- Flat nose
- Full upper lip
- Low frontal hairline
- Nasal tip, upturned
- Sparse or absent eyebrows
- Sparse or absent eyelashes
- Underdeveloped tissue around nostril
- Wide nasal bridge
- Chin with horizontal crease
- Cryptophthalmos
- Decreased size of maxilla
- Decreased size of tooth
- Eye folds
- Highly arched eyebrow
- Limited hair on end of eyebrow
- Short philtrum
- Sparse lower eyelashes
- Wide nose
- Aplastic zygomatic arch
- Bad bite
- Decreased size of eyelid
- Decreased volume of lip
- Downward slanting of the opening between the eyelids
- Epiblepharon
- Failure of development of between one and six teeth
- Gum enlargement
- High palate
- Little lower jaw
- Short upper lip
- Sparse eyebrow
- Sparse eyelashes
- Velopharyngeal incompetence
- Widely spaced teeth
- Abnormal of nasal shape
- Absent lower eyelashes
- Big lower jaw
Abnormality of the ear
- Microtia, first degree
- Hearing impairment
- Small ears
- Low-set ears
- Narrow ear canal
- Abnormally shaped ears
- Absent ear canal
- Extra concha fold
Show 1 more trait
Abnormality of the genitourinary system
- Small labia majora
- Abnormal female external genitalia
- Abnormality of the upper urinary tract
- Ambiguous external genitalia
- Underdeveloped penis
- Undescended testes
- Scrotum surrounds penis
- Short penis
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.
- 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.). TWIST2 gene: twist family bHLH transcription factor 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/twist2
Dante Labs. TWIST2 gene: twist family bHLH transcription factor 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/twist2
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