Gene
OBSCN
obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
- HGNC 15719↗(opens in a new tab)
- Ensembl gene ENSG00000154358↗(opens in a new tab)
- NCBI Gene 84033↗(opens in a new tab)
Summary
- Cytogenetic location
- 1q42.13
- Coordinates
- Chromosome 1: 228,208,044–228,378,876 (GRCh38)
- Exons
- 116 exons across 170.8 kb
- Protein
- 8,925 amino acids
- Also known as
- KIAA1556, UNC89, KIAA1639, ARHGEF30
- MANE Select transcript
- ENST00000680850.1NM_001386125.1
- Locus type
- gene with protein product
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads OBSCN yet. The test sequences your whole genome, so your data includes it all the same.
How OBSCN 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 27 kb of the gene's 170.8 kb; 26,778 of those bases code for the protein.
How a genome test reads OBSCN
18
positions in OBSCN 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 170.8 kb of OBSCN, introns included, not only the 27 kb of exons.
Traits linked to OBSCN
The Human Phenotype Ontology lists these as features of the rare conditions OBSCN 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.
- 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.). OBSCN gene: obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF. Retrieved 17 October 2026, from https://dantelabs.com/genes/obscn
Dante Labs. OBSCN gene: obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/obscn
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