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Gene

KLHL7

kelch like family member 7

Summary

Cytogenetic location
7p15.3
Coordinates
Chromosome 7: 23,105,785–23,177,914 (GRCh38)
Exons
11 exons across 72.1 kb
Protein
586 amino acids
Also known as
KLHL6, SBBI26, RP42
MANE Select transcript
ENST00000339077.10NM_001031710.3
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

  • Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)

    • Hereditary Sensory and Autonomic Neuropathy

      A group of neuropathies, including familial dysautonomia (ELP1), HSAN1 (SPTLC1/SPTLC2), HSAN2 (WNK1, RETREG1) and congenital insensitivity to pain (NTRK1, SCN9A, PRDM12), most of which are recessive while HSAN1 is dominant.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Protection against unnoticed injuries, burns and infections, management of autonomic symptoms, and carrier testing for relatives (familial dysautonomia is included in Ashkenazi Jewish carrier screening).

Broader groupings

  • Retinitis Pigmentosa

    • One of 77 genes linked to it

      A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.

      • 3 GenCC submitters rate it definitive or strong

How KLHL7 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where KLHL7 sits. KLHL7 and 10 genes near it on chromosome 7, from 22,641,850 to 23,641,849.Chromosome 77p15.3p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.322.8 Mb23 Mb23.2 Mb23.4 Mb23.6 MbSTEAP1B: 22,416,932–22,727,789, reverse strandSTEAP1BIL6: 22,725,884–22,732,002, forward strandIL6TOMM7: 22,812,628–22,822,891, reverse strandTOMM7HYCC1: 22,889,371–23,014,148, reverse strandHYCC1KLHL7: 23,105,785–23,177,914, forward strandKLHL7NUP42: 23,181,804–23,201,011, forward strandNUP42GPNMB: 23,235,967–23,275,111, forward strandGPNMBMALSU1: 23,298,739–23,311,729, forward strandMALSU1IGF2BP3: 23,308,571–23,470,833, reverse strandIGF2BP3TRA2A: 23,504,780–23,532,041, reverse strandTRA2ACCDC126: 23,597,374–23,644,714, forward strandCCDC126Diagram of KLHL7: 11 exons on the forward strand of chromosome 7Exon 3: 1 known disease-causing siteExon 4: 2 known disease-causing sitesExon 5: 5 known disease-causing sitesExon 6: 1 known disease-causing siteExon 7: 2 known disease-causing sitesExon 8: 4 known disease-causing sitesExon 9: 3 known disease-causing sitesExon 1: 23,105,785–23,106,146, 362 basesExon 2: 23,123,777–23,123,879, 103 basesExon 3: 23,124,688–23,124,781, 94 basesExon 4: 23,125,048–23,125,172, 125 basesExon 5: 23,140,769–23,140,944, 176 basesExon 6: 23,143,851–23,144,025, 175 basesExon 7: 23,152,067–23,152,209, 143 basesExon 8: 23,165,698–23,165,938, 241 basesExon 9: 23,167,836–23,168,037, 202 basesExon 10: 23,172,948–23,173,045, 98 basesExon 11: 23,174,015–23,177,914, 3,900 bases1246810115′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 5.6 kb of the gene's 72.1 kb; 1,761 of those bases code for the protein.

How a genome test reads KLHL7

21

positions in KLHL7 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 72.1 kb of KLHL7, introns included, not only the 5.6 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.). KLHL7 gene: kelch like family member 7. Retrieved 16 October 2026, from https://dantelabs.com/genes/klhl7

Vancouver

Dante Labs. KLHL7 gene: kelch like family member 7 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/klhl7

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