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Gene

OBSL1

obscurin like cytoskeletal adaptor 1

Summary

Cytogenetic location
2q35
Coordinates
Chromosome 2: 219,550,728–219,571,539 (GRCh38)
Exons
21 exons across 20.8 kb
Protein
1,896 amino acids
Also known as
KIAA0657
MANE Select transcript
ENST00000404537.6NM_015311.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

No Genome Test report reads OBSL1 yet. The test sequences your whole genome, so your data includes it all the same.

How OBSL1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 2, with a bracket where OBSL1 sits. OBSL1 and 29 genes near it on chromosome 2, from 219,061,134 to 220,061,133.Chromosome 22q35p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3219.2 Mb219.4 Mb219.6 Mb219.8 Mb220 MbNHEJ1: 219,069,355–219,160,869, reverse strand: 219,075,329–219,170,827, reverse strandSLC23A3: 219,161,465–219,170,095, reverse strandSLC23A3CNPPD1: 219,170,704–219,182,664, reverse strandCNPPD1RETREG2: 219,176,225–219,185,917, forward strandRETREG2ZFAND2B: 219,195,237–219,209,651, forward strandABCB6: 219,209,765–219,219,012, reverse strand: 219,209,772–219,222,738, reverse strandATG9A: 219,219,380–219,230,383, reverse strandANKZF1: 219,229,769–219,236,679, forward strandGLB1L: 219,236,598–219,245,478, reverse strandSTK16: 219,245,212–219,250,339, forward strandTUBA4A: 219,249,710–219,277,902, reverse strandTUBA4ATUBA4B: 219,253,243–219,272,197, forward strandTUBA4BDNAJB2: 219,279,308–219,286,900, forward strandDNAJB2PTPRN: 219,289,623–219,309,648, reverse strandPTPRNRESP18: 219,327,407–219,335,552, reverse strandRESP18DNPEP: 219,360,090–219,400,022, reverse strandDNPEPDES: 219,417,474–219,426,740, forward strandDESSPEG: 219,434,471–219,493,629, forward strandSPEG: 219,491,867–219,498,244, forward strandSPEGNB: 219,496,129–219,498,287, forward strandGMPPA: 219,498,618–219,513,898, forward strandGMPPAASIC4: 219,514,170–219,538,772, forward strandCHPF: 219,538,949–219,543,818, reverse strandCHPFTMEM198: 219,543,130–219,550,595, forward strandTMEM198OBSL1: 219,550,728–219,571,539, reverse strandOBSL1INHA: 219,569,162–219,575,711, forward strandINHASTK11IP: 219,595,805–219,616,452, forward strandSTK11IPSLC4A3: 219,627,011–219,641,982, forward strandSLC4A3Diagram of OBSL1: 21 exons on the reverse strand of chromosome 2Exon 20: 2 known disease-causing sitesExon 19: 1 known disease-causing siteExon 18: 2 known disease-causing sitesExon 15: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 11: 3 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 6: 5 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 3: 1 known disease-causing siteExon 2: 4 known disease-causing sitesExon 1: 13 known disease-causing sitesExon 21: 219,550,728–219,550,842, 115 basesExon 20: 219,551,529–219,551,798, 270 basesExon 19: 219,552,112–219,552,216, 105 basesExon 18: 219,552,536–219,552,697, 162 basesExon 17: 219,552,868–219,553,024, 157 basesExon 16: 219,553,574–219,553,686, 113 basesExon 15: 219,554,474–219,554,740, 267 basesExon 14: 219,556,020–219,556,292, 273 basesExon 13: 219,556,454–219,556,723, 270 basesExon 12: 219,557,343–219,557,618, 276 basesExon 11: 219,557,823–219,558,110, 288 basesExon 10: 219,558,184–219,558,459, 276 basesExon 9: 219,559,225–219,559,497, 273 basesExon 8: 219,562,402–219,562,674, 273 basesExon 7: 219,563,355–219,563,627, 273 basesExon 6: 219,565,242–219,565,514, 273 basesExon 5: 219,566,830–219,567,126, 297 basesExon 4: 219,567,273–219,567,575, 303 basesExon 3: 219,567,718–219,567,969, 252 basesExon 2: 219,568,055–219,568,324, 270 basesExon 1: 219,570,221–219,571,539, 1,319 bases21201816141210864215′3′

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 6.1 kb of the gene's 20.8 kb; 5,691 of those bases code for the protein.

How a genome test reads OBSL1

52

positions in OBSL1 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 20.8 kb of OBSL1, introns included, not only the 6.1 kb of exons.

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

APA

Dante Labs. (n.d.). OBSL1 gene: obscurin like cytoskeletal adaptor 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/obsl1

Vancouver

Dante Labs. OBSL1 gene: obscurin like cytoskeletal adaptor 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/obsl1

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