Gene
WFS1
wolframin ER transmembrane glycoprotein
- HGNC 12762(opens in a new tab)
- Ensembl gene ENSG00000109501(opens in a new tab)
- NCBI Gene 7466(opens in a new tab)
Summary
- Cytogenetic location
- 4p16.1
- Coordinates
- Chromosome 4: 6,269,850–6,303,265 (GRCh38)
- Exons
- 8 exons across 33.4 kb
- Protein
- 890 amino acids
- Inheritance
- Autosomal dominant Autosomal recessive
- Also known as
- DIDMOAD, WFS
- Previous symbols
- DFNA6, DFNA14, DFNA38
- MANE Select transcript
- ENST00000226760.5NM_006005.3
- 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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Hearing Loss and Deafness
- Autosomal Dominant Nonsyndromic Hearing LossAutosomal dominant
Autosomal dominant form of nonsyndromic deafness.
- 2 GenCC submitters rate it definitive or strong
- Nonsyndromic Genetic Hearing Loss
One of 97 genes linked to it
Inherited hearing loss without other medical features, including the common recessive forms caused by GJB2, OTOF, SLC26A4, STRC and many other genes, as well as dominant, X-linked and mitochondrial forms.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Knowing the genetic cause can guide hearing support and cochlear implant decisions, gene-therapy trial eligibility (for example OTOF) and family counselling.
Hereditary Congenital & Juvenile Cataract
- Early-Onset Non-Syndromic Cataract
Cataract that appears at birth or early in life without other features, caused by changes in lens genes such as the crystallins (CRYAA, CRYBB2, CRYGD and others), GJA3, GJA8 and MIP.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Early detection and surgery in children help prevent permanent vision loss from amblyopia, and family members can be offered eye checks.
Wolfram Syndrome & WFS1 Spectrum
- Wolfram-like syndromeAutosomal dominant
A milder, dominantly inherited WFS1 disorder with hearing loss, optic atrophy and sometimes diabetes.
- ClinGen rates the link definitive
- 6 GenCC submitters rate it definitive or strong
- Wolfram syndromeAutosomal recessive
Progressive childhood-onset diabetes and optic atrophy, often with diabetes insipidus, hearing loss and neurological features (WFS1, CISD2).
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Diagnosis guides diabetes care and allows planned eye, hearing, urinary and neurological follow-up.
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
- 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 WFS1 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 3.6 kb of the gene's 33.4 kb; 2,673 of those bases code for the protein.
How a genome test reads WFS1
194
positions in WFS1 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 33.4 kb of WFS1, introns included, not only the 3.6 kb of exons.
Traits linked to WFS1
The Human Phenotype Ontology lists these as features of the rare conditions WFS1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Anxiety
- Autism spectrum disorder
- Dementia
- Depression
- Extreme thirst
- Psychosis
- Ataxia
- Difficulty articulating speech
Show 13 more traits
- Epilepsy
- Peripheral axonal neuropathy
- Progressive cerebellar ataxia
- Tremor
- Abnormal autonomic nervous system physiology
- Behavioral abnormality
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Difficulty sleeping
- Hallucinations
- Intellectual disability
- Loss of developmental milestones
- Peripheral neuropathy
- Degeneration of cerebrum
Abnormality of the genitourinary system
- Hydronephrosis
- Abnormality of the upper urinary tract
- Dull burning sensation with urination
- Frequent urinary tract infections
- Kidney damage
- Urinary tract abnormalities
- Hydroureter
- Lack of bladder control due to nervous system injury
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.). WFS1 gene: wolframin ER transmembrane glycoprotein. Retrieved 16 October 2026, from https://dantelabs.com/genes/wfs1
Dante Labs. WFS1 gene: wolframin ER transmembrane glycoprotein [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/wfs1
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