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Gene

EFHC1

EF-hand domain containing 1

Summary

Cytogenetic location
6p12.2
Coordinates
Chromosome 6: 52,420,342–52,497,198 (GRCh38)
Exons
11 exons across 76.9 kb
Protein
640 amino acids
Also known as
FLJ10466, RIB72, POC9
Previous symbols
EJM1, EJM
MANE Select transcript
ENST00000371068.11NM_018100.4
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 reports relevant to this gene

No Genome Test report reads EFHC1 yet. The test sequences your whole genome, so your data includes it all the same.

How EFHC1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 6, with a bracket where EFHC1 sits. EFHC1 and 11 genes near it on chromosome 6, from 51,958,770 to 52,958,769.Chromosome 66p12.2p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q2752 Mb52.2 Mb52.4 Mb52.6 Mb52.8 MbPKHD1: 51,615,299–52,087,618, reverse strandPKHD1IL17A: 52,186,375–52,190,638, forward strandIL17AIL17F: 52,236,681–52,245,689, reverse strandIL17FMCM3: 52,264,009–52,284,881, reverse strandMCM3PAQR8: 52,361,421–52,407,777, forward strandPAQR8EFHC1: 52,420,342–52,497,198, forward strandEFHC1TRAM2: 52,497,408–52,577,316, reverse strandTRAM2TMEM14A: 52,671,072–52,686,592, forward strandTMEM14AGSTA2: 52,747,975–52,763,525, reverse strandGSTA2GSTA1: 52,791,118–52,804,021, reverse strandGSTA1GSTA5: 52,831,655–52,840,843, reverse strandGSTA5GSTA3: 52,896,639–52,909,701, reverse strandGSTA3Diagram of EFHC1: 11 exons on the forward strand of chromosome 6Exon 9: 1 known disease-causing siteExon 1: 52,420,342–52,420,473, 132 basesExon 2: 52,423,946–52,424,167, 222 basesExon 3: 52,438,304–52,438,591, 288 basesExon 4: 52,452,688–52,452,837, 150 basesExon 5: 52,454,095–52,454,287, 193 basesExon 6: 52,464,895–52,465,115, 221 basesExon 7: 52,469,333–52,469,473, 141 basesExon 8: 52,479,037–52,479,250, 214 basesExon 9: 52,479,640–52,479,787, 148 basesExon 10: 52,490,140–52,490,350, 211 basesExon 11: 52,492,270–52,497,198, 4,929 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 6.8 kb of the gene's 76.9 kb; 1,923 of those bases code for the protein.

How a genome test reads EFHC1

1

position in EFHC1 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 76.9 kb of EFHC1, introns included, not only the 6.8 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.). EFHC1 gene: EF-hand domain containing 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/efhc1

Vancouver

Dante Labs. EFHC1 gene: EF-hand domain containing 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/efhc1

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