Gene
BORCS8
BLOC-1 related complex subunit 8
- HGNC 37247↗(opens in a new tab)
- Ensembl gene ENSG00000254901↗(opens in a new tab)
- NCBI Gene 729991↗(opens in a new tab)
Summary
- Cytogenetic location
- 19p13.11
- Coordinates
- Chromosome 19: 19,176,906–19,192,152 (GRCh38)
- Exons
- 6 exons across 15.2 kb
- Protein
- 119 amino acids
- Previous symbols
- MEF2BNB
- MANE Select transcript
- ENST00000462790.8NM_001145784.2
- 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
No Genome Test report reads BORCS8 yet. The test sequences your whole genome, so your data includes it all the same.
How BORCS8 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 kb of the gene's 15.2 kb; 360 of those bases code for the protein.
How a genome test reads BORCS8
1
position in BORCS8 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 15.2 kb of BORCS8, introns included, not only the 1 kb of exons.
Traits linked to BORCS8
The Human Phenotype Ontology lists these as features of the rare conditions BORCS8 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Development of small head that was not present at birth
- Enlarged cisterna magna
- Full upper lip
- Highly arched eyebrow
- Broad nasal tip
- Bulbous nose
- Full lips
- Full lower lip
Show 25 more traits
- Long face
- Monobrow
- Narrow forehead
- Nasal tip, upturned
- Thick eyebrow
- Upward slanting of the opening between the eyelids
- Weakness of facial musculature
- Broad chin
- Coarse facial features
- Decreased facial muscle tone
- Depressed nasal bridge
- Downward slanting of the opening between the eyelids
- Eye folds
- Flared nostrils
- High frontal hairline
- Long eyelashes
- Low hanging columella
- Midface retrusion
- Narrow face
- Prominent brow
- Prominent nasal bridge
- Protruding tongue
- Sparse scalp hair
- Tall chin
- Tented mouth
Abnormality of the nervous system
- Absent speech development
- Babinski sign
- Brisk reflexes
- CNS hypomyelination
- Degeneration of cerebellum
- Degeneration of cerebrum
- Delayed ability to sit
- Delayed speech and language development
Show 16 more traits
- Generalized tonic seizure
- Global developmental delay
- Hypoplasia of the pons
- Impaired use of nonverbal behaviors
- Inability to walk by childhood/adolescence
- IQ less than 20
- Myoclonic seizure
- Paralysis
- Seizure affecting one half of brain
- T2 hypointense thalamus
- Thin corpus callosum
- Dystonia
- Epilepsy
- Jerking
- Loss of developmental milestones
- Optic nerve glioma
Abnormality of limbs
- Absent knee jerk reflex
- Finger joint contracture
- Knee contracture
- Broad thumb
- Foot crease
- Long fingers
- Long toe
- Overlapping toe
Show 1 more trait
Abnormality of the musculoskeletal system
- Diffuse skeletal muscle wasting
- Low muscle tone in trunk
- Lower limb spasticity
- Muscle weakness
- Appendicular hypotonia
- Generalized decreased muscle tone
- Involuntary muscle stiffness, contraction, or spasm
- Osteoporosis
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.). BORCS8 gene: BLOC-1 related complex subunit 8. Retrieved 17 October 2026, from https://dantelabs.com/genes/borcs8
Dante Labs. BORCS8 gene: BLOC-1 related complex subunit 8 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/borcs8
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