Gene
TMEM237
transmembrane protein 237
- HGNC 14432(opens in a new tab)
- Ensembl gene ENSG00000155755(opens in a new tab)
- NCBI Gene 65062(opens in a new tab)
Summary
- Cytogenetic location
- 2q33.1
- Coordinates
- Chromosome 2: 201,620,186–201,643,503 (GRCh38)
- Exons
- 13 exons across 23.3 kb
- Protein
- 408 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- JBTS14
- Previous symbols
- ALS2CR4
- MANE Select transcript
- ENST00000409883.7NM_001044385.3
- 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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Joubert Syndrome And Related Disorders
- Autosomal recessive
Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
- Joubert Syndrome
A ciliopathy defined by a malformation of the cerebellum and brainstem (the molar tooth sign), with low muscle tone, developmental delay and abnormal eye movements, sometimes with kidney, liver or eye involvement.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
Broader groupings
Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)
- Autosomal Recessive Cerebellar AtaxiaAutosomal recessive
One of 57 genes linked to it
A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Ataxia with vitamin E deficiency (TTPA) is treatable with vitamin E supplements; other forms are managed with physiotherapy and symptom care, and relatives can be offered carrier testing.
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 TMEM237 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 5.4 kb of the gene's 23.3 kb; 1,227 of those bases code for the protein.
How a genome test reads TMEM237
35
positions in TMEM237 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 23.3 kb of TMEM237, introns included, not only the 5.4 kb of exons.
Traits linked to TMEM237
The Human Phenotype Ontology lists these as features of the rare conditions TMEM237 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Abnormally small head
- Encephalocele
- Cleft palate
- Decreased width of the skull
- Flat nose
- Full cheeks
- Little lower jaw
- Long face
Show 15 more traits
Abnormality of the nervous system
- Ataxia
- Cerebellar vermis hypoplasia
- Global developmental delay
- Intellectual disability
- Molar tooth sign on MRI
- Abnormal gait
- Autism spectrum disorder
- Behavioral abnormality
Show 15 more traits
- Lobar holoprosencephaly
- Too much cerebrospinal fluid in the brain
- Abnormality of neuronal migration
- Agenesis of cerebellar vermis
- Agenesis of corpus callosum
- Anencephaly
- Aplasia/Hypoplasia of the corpus callosum
- Epilepsy
- Meningocele
- More grooves in brain
- Small brainstem
- Tremor
- Underdevelopment of part of brain called corpus callosum
- Intellectual disability, severe
- Irritability
Abnormality of the eye
- Breakdown of light-sensitive cells in back of eye
- Involuntary, rapid, rhythmic eye movements
- Oculomotor apraxia
- Abnormal chorioretinal morphology
- Abnormally small eyeball
- Absent/small iris
- Birth defect that causes a hole in the innermost layer at the back of the eye
- Blindness
Show 14 more traits
Abnormality of the genitourinary system
- Cystic kidney disease
- Kidney damage
- Multicystic kidney dysplasia
- Ambiguous external genitalia
- Undescended testes
- Double ureter
- Male pseudohermaphroditism
- Renal failure
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.
- 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.). TMEM237 gene: transmembrane protein 237. Retrieved 17 October 2026, from https://dantelabs.com/genes/tmem237
Dante Labs. TMEM237 gene: transmembrane protein 237 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tmem237
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