Gene
TMEM106B
transmembrane protein 106B
- HGNC 22407↗(opens in a new tab)
- Ensembl gene ENSG00000106460↗(opens in a new tab)
- NCBI Gene 54664↗(opens in a new tab)
Summary
- Cytogenetic location
- 7p21.3
- Coordinates
- Chromosome 7: 12,211,294–12,243,367 (GRCh38)
- Exons
- 8 exons across 32.1 kb
- Protein
- 274 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- MGC33727, FLJ11273
- MANE Select transcript
- ENST00000396668.8NM_001134232.2
- 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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Get my Genome TestCurated reports relevant to this gene
Pelizaeus-Merzbacher Disease & Hypomyelinating Leukodystrophies
- Hypomyelinating leukodystrophy 16 (TMEM106B)Autosomal dominant
A rare inherited form of hypomyelinating leukodystrophy, in which myelin in the brain does not form normally, causing delayed development and movement problems.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
Broader groupings
Other Inherited Leukodystrophies
- Leukodystrophy (other and unspecified types)
One of 80 genes linked to it
Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.
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.
How TMEM106B 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 12.4 kb of the gene's 32.1 kb; 825 of those bases code for the protein.
How a genome test reads TMEM106B
1
position in TMEM106B 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 32.1 kb of TMEM106B, introns included, not only the 12.4 kb of exons.
Genes linked to the same conditions
- AARS1alanyl-tRNA synthetase 1Shares 1 condition
- AARS2alanyl-tRNA synthetase 2, mitochondrialShares 1 condition
- ABCD1ATP binding cassette subfamily D member 1Shares 1 condition
- ACER3alkaline ceramidase 3Shares 1 condition
- ADARadenosine deaminase RNA specificShares 1 condition
- AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1Shares 1 condition
- AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2Shares 1 condition
- ALDH3A2aldehyde dehydrogenase 3 family member A2Shares 1 condition
- ARSAarylsulfatase AShares 1 condition
- ASPAaspartoacylaseShares 1 condition
- ATP11AATPase phospholipid transporting 11AShares 1 condition
- CLCN2chloride voltage-gated channel 2Shares 1 condition
Traits linked to TMEM106B
The Human Phenotype Ontology lists these as features of the rare conditions TMEM106B can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Delayed CNS myelination
- Aggressive behavior
- Behavioral abnormality
- Brain degeneration
- Difficulty finding words
- Difficulty making arithmetical calculations
- Disinhibition
- Dysgraphia
Show 70 more traits
- Echoing another person's speech
- Emotional poverty
- Frontotemporal cerebral atrophy
- Frontotemporal dementia
- Grammar-specific speech disorder
- Hyperorality
- Inappropriate behavior
- Irritability
- Lack of insight
- Loss of speech
- Memory impairment
- Mental deterioration
- Perseverative thought
- Personality changes
- Poor speech
- Reading disability
- Repetitive movements
- Restlessness
- Restrictive behavior
- Spoken word recognition deficit
- Temporal cortical atrophy
- Visual agnosia
- Word-finding difficulty
- Abnormal brain FDG positron emission tomography
- Abnormal cerebral white matter morphology
- Abnormal speech pattern
- Abulia
- Anxiety
- Apraxia
- Brisk reflexes
- Compulsive hoarding
- Dementia
- Depression
- EEG with continuous slow activity
- Epilepsy
- Global developmental delay
- Inability to coordinate movements when walking
- Intention tremor
- Text blindness
- Underdevelopment of part of brain called corpus callosum
- Abnormal gait
- Abnormal lower motor neuron morphology
- Abnormal pyramidal sign
- Abnormality of extrapyramidal motor function
- Absent speech development
- Astrocytosis
- Choreoathetosis
- Delayed ability to walk
- Difficulty articulating speech
- Grand mal seizures
- Inability to speak
- Increased reflexes
- Intellectual disability
- Lack of coordination of movement
- Lack of feeling, emotion, interest
- Loss of expressive speech
- Muscle twitch
- Parkinsonism
- Psychosis
- Senile plaques
- Shuffled walk
- Stooped posture
- Upper motor neuron dysfunction
- Brain neoplasm
- Delayed speech and language development
- Dystonia
- Leukodystrophy
- Lewy bodies
- Neurofibrillary tangles
- Wide based walk
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.). TMEM106B gene: transmembrane protein 106B. Retrieved 16 October 2026, from https://dantelabs.com/genes/tmem106b
Dante Labs. TMEM106B gene: transmembrane protein 106B [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tmem106b
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