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Gene

KLHL40

kelch like family member 40

Summary

Cytogenetic location
3p22.1
Coordinates
Chromosome 3: 42,685,537–42,692,544 (GRCh38)
Exons
6 exons across 7 kb
Protein
621 amino acids
Also known as
SRYP, NEM8
Previous symbols
KBTBD5
MANE Select transcript
ENST00000287777.5NM_152393.4
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 report relevant to this gene

  • Congenital Myopathies

    • Nemaline myopathy

      A congenital myopathy defined by rod-shaped structures in muscle fibers, most often caused by NEB or ACTA1 variants.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong

How KLHL40 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 3, with a bracket where KLHL40 sits. KLHL40 and 20 genes near it on chromosome 3, from 42,189,041 to 43,189,040.Chromosome 33p22.1p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q2942.2 Mb42.4 Mb42.6 Mb42.8 Mb43 MbTRAK1: 42,013,624–42,225,890, forward strandTRAK1CCK: 42,257,823–42,266,190, reverse strandCCKLYZL4: 42,397,083–42,410,610, reverse strandLYZL4VIPR1: 42,489,299–42,537,696, forward strandVIPR1SEC22C: 42,546,350–42,601,300, reverse strandSEC22CSS18L2: 42,581,840–42,596,985, forward strandSS18L2NKTR: 42,600,471–42,648,742, forward strandNKTRZBTB47: 42,652,900–42,667,580, forward strandZBTB47KLHL40: 42,685,537–42,692,544, forward strandKLHL40HHATL: 42,692,661–42,703,260, reverse strandHHATLCCDC13: 42,704,119–42,773,290, reverse strandCCDC13: 42,705,756–42,804,518, reverse strandHIGD1A: 42,782,904–42,804,531, reverse strandHIGD1AACKR2: 42,804,586–42,888,801, forward strandACKR2: 42,809,446–43,055,871, forward strand: 42,809,483–42,942,792, forward strandCYP8B1: 42,855,944–42,875,920, reverse strandCYP8B1ZNF662: 42,905,941–42,919,334, forward strandZNF662KRABD1: 42,936,336–42,942,799, forward strandKRABD1GASK1A: 42,979,087–43,067,898, forward strandGASK1APOMGNT2: 43,079,229–43,106,098, reverse strandPOMGNT2Diagram of KLHL40: 6 exons on the forward strand of chromosome 3Exon 1: 23 known disease-causing sitesExon 2: 5 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 6: 1 known disease-causing siteExon 1: 42,685,537–42,686,770, 1,234 basesExon 2: 42,688,142–42,688,302, 161 basesExon 3: 42,688,610–42,688,717, 108 basesExon 4: 42,688,869–42,689,054, 186 basesExon 5: 42,690,859–42,691,005, 147 basesExon 6: 42,691,882–42,692,544, 663 bases1234565′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 2.5 kb of the gene's 7 kb; 1,866 of those bases code for the protein.

How a genome test reads KLHL40

43

positions in KLHL40 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 7 kb of KLHL40, introns included, not only the 2.5 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.
  • 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

APA

Dante Labs. (n.d.). KLHL40 gene: kelch like family member 40. Retrieved 16 October 2026, from https://dantelabs.com/genes/klhl40

Vancouver

Dante Labs. KLHL40 gene: kelch like family member 40 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/klhl40

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