Gene
SEMA6B
semaphorin 6B
- HGNC 10739↗(opens in a new tab)
- Ensembl gene ENSG00000167680↗(opens in a new tab)
- NCBI Gene 10501↗(opens in a new tab)
Summary
- Cytogenetic location
- 19p13.3
- Coordinates
- Chromosome 19: 4,542,593–4,559,684 (GRCh38)
- Exons
- 17 exons across 17.1 kb
- Protein
- 888 amino acids
- Also known as
- semaZ, SEMA-VIB, SEM-SEMA-Z
- Previous symbols
- SEMAN
- MANE Select transcript
- ENST00000586582.6NM_032108.4
- 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.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
Intellectual Disability
One of 233 genes linked to it
- 1 GenCC submitter rates it definitive or strong
How SEMA6B 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 3.9 kb of the gene's 17.1 kb; 2,667 of those bases code for the protein.
How a genome test reads SEMA6B
13
positions in SEMA6B 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 17.1 kb of SEMA6B, introns included, not only the 3.9 kb of exons.
Genes linked to the same conditions
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 2 conditions
- ATP6AP2ATPase H+ transporting accessory protein 2Shares 2 conditions
- FGF13fibroblast growth factor 13Shares 2 conditions
- GRIN1glutamate ionotropic receptor NMDA type subunit 1Shares 2 conditions
- GRIN2Bglutamate ionotropic receptor NMDA type subunit 2BShares 2 conditions
- MECP2methyl-CpG binding protein 2Shares 2 conditions
- NACC1nucleus accumbens associated 1Shares 2 conditions
- NUS1NUS1 dehydrodolichyl diphosphate synthase subunitShares 2 conditions
- OTUD6BOTU deubiquitinase 6BShares 2 conditions
- PCDH19protocadherin 19Shares 2 conditions
- SCN2Asodium voltage-gated channel alpha subunit 2Shares 2 conditions
- ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3Shares 2 conditions
Traits linked to SEMA6B
The Human Phenotype Ontology lists these as features of the rare conditions SEMA6B can cause. Each trait's page lists the other genes linked to it.
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.). SEMA6B gene: semaphorin 6B. Retrieved 17 October 2026, from https://dantelabs.com/genes/sema6b
Dante Labs. SEMA6B gene: semaphorin 6B [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sema6b
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