Gene
TMEM63B
transmembrane protein 63B
- HGNC 17735↗(opens in a new tab)
- Ensembl gene ENSG00000137216↗(opens in a new tab)
- NCBI Gene 55362↗(opens in a new tab)
Summary
- Cytogenetic location
- 6p21.1
- Coordinates
- Chromosome 6: 44,127,554–44,155,519 (GRCh38)
- Exons
- 24 exons across 28 kb
- Protein
- 832 amino acids
- Also known as
- DKFZp434P0531, dJ421H19.2
- Previous symbols
- C6orf110
- MANE Select transcript
- ENST00000323267.11NM_018426.3
- 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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Epilepsy (Full Panel)
- Epilepsy
One of 171 genes linked to it
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
- 1 GenCC submitter rates it definitive or strong
How TMEM63B 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 3.3 kb of the gene's 28 kb; 2,499 of those bases code for the protein.
How a genome test reads TMEM63B
2
positions in TMEM63B 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 28 kb of TMEM63B, introns included, not only the 3.3 kb of exons.
Genes linked to the same conditions
- AARS1alanyl-tRNA synthetase 1Shares 1 condition
- ABAT4-aminobutyrate aminotransferaseShares 1 condition
- ACTL6Bactin like 6BShares 1 condition
- ADAM22ADAM metallopeptidase domain 22Shares 1 condition
- ALDH7A1aldehyde dehydrogenase 7 family member A1Shares 1 condition
- ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunitShares 1 condition
- AP3B2adaptor related protein complex 3 subunit beta 2Shares 1 condition
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 1 condition
- ARV1ARV1 fatty acid homeostasis modulatorShares 1 condition
- ARXaristaless related homeoboxShares 1 condition
- ATP1A2ATPase Na+/K+ transporting subunit alpha 2Shares 1 condition
- ATP1A3ATPase Na+/K+ transporting subunit alpha 3Shares 1 condition
Traits linked to TMEM63B
The Human Phenotype Ontology lists these as features of the rare conditions TMEM63B can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormal CNS myelination
- Ataxia
- Autism spectrum disorder
- Bilateral tonic-clonic seizure with focal onset
- Colpocephaly
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Degeneration of cerebellum
- Delayed CNS myelination
Show 24 more traits
- Difficulty articulating speech
- Disorder of involuntary muscle movements
- EEG abnormality
- Epileptic spasm
- Extra-axial cerebrospinal fluid accumulation
- Febrile seizure (within the age range of 3 months to 6 years)
- Focal impaired awareness seizure
- Generalized tonic seizure
- Grand mal seizures
- Inability to coordinate movements when walking
- Infantile spasms
- Lateral ventricle dilatation
- Limb dystonia
- Moderate global developmental delay
- Myoclonic seizure
- Profound global developmental delay
- Pseudobulbar signs
- Reduced cerebral white matter volume
- Repeated seizures without recovery between them
- Seizure affecting one half of brain
- Severe global developmental delay
- Tetraparesis
- Thin corpus callosum
- Tremor
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.). TMEM63B gene: transmembrane protein 63B. Retrieved 17 October 2026, from https://dantelabs.com/genes/tmem63b
Dante Labs. TMEM63B gene: transmembrane protein 63B [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tmem63b
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