Skip to content
Use your HSA or FSA funds

Gene

EVC2

EvC ciliary complex subunit 2

Summary

Cytogenetic location
4p16.2
Coordinates
Chromosome 4: 5,562,439–5,708,559 (GRCh38)
Exons
22 exons across 146.1 kb
Protein
1,308 amino acids
Inheritance
Autosomal dominant Autosomal recessive
Also known as
LBN
MANE Select transcript
ENST00000344408.10NM_147127.5
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

  • Ellis-van Creveld Syndrome and Cranioectodermal Dysplasia

    • Ellis-van Creveld syndromeAutosomal recessive

      An EVC/EVC2 disorder with short limbs, extra fingers, small chest, nail and tooth abnormalities, and heart defects in over half of affected people.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
      What knowing changes

      A heart assessment is advised at diagnosis.

    • Weyers acrofacial dysostosisAutosomal dominant

      A milder EVC/EVC2 condition with nail, tooth and finger differences.

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

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How EVC2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 4, with a bracket where EVC2 sits. EVC2 and 6 genes near it on chromosome 4, from 5,135,499 to 6,135,498.Chromosome 44p16.2p16.3p16.2p16.1p15.33p15.32p15.31p15.2p15.1p14p13p12p11q11q12q13.1q13.2q13.3q21.1q21.21q21.22q21.23q21.3q22.1q22.2q22.3q23q24q25q26q27q28.1q28.2q28.3q31.1q31.21q31.22q31.23q31.3q32.1q32.2q32.3q33q34.1q34.2q34.3q35.1q35.25.2 Mb5.4 Mb5.6 Mb5.8 Mb6 MbSTK32B: 5,051,400–5,500,994, forward strandSTK32BEVC2: 5,562,439–5,708,559, reverse strandEVC2EVC: 5,711,172–5,814,305, forward strandEVCCRMP1: 5,748,084–5,893,086, reverse strandCRMP1C4orf50: 5,897,373–6,200,596, reverse strandC4orf50JAKMIP1: 6,026,199–6,200,596, reverse strandJAKMIP1: 6,064,977–6,070,162, reverse strandDiagram of EVC2: 22 exons on the reverse strand of chromosome 4Exon 22: 6 known disease-causing sitesExon 21: 7 known disease-causing sitesExon 20: 14 known disease-causing sitesExon 19: 4 known disease-causing sitesExon 18: 17 known disease-causing sitesExon 17: 24 known disease-causing sitesExon 16: 8 known disease-causing sitesExon 15: 18 known disease-causing sitesExon 14: 37 known disease-causing sitesExon 13: 15 known disease-causing sitesExon 12: 16 known disease-causing sitesExon 11: 17 known disease-causing sitesExon 10: 22 known disease-causing sitesExon 9: 10 known disease-causing sitesExon 8: 9 known disease-causing sitesExon 7: 7 known disease-causing sitesExon 6: 10 known disease-causing sitesExon 5: 13 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 3: 14 known disease-causing sitesExon 2: 4 known disease-causing sitesExon 1: 22 known disease-causing sitesExon 22: 5,562,439–5,563,115, 677 basesExon 21: 5,565,258–5,565,359, 102 basesExon 20: 5,568,444–5,568,640, 197 basesExon 19: 5,574,685–5,574,772, 88 basesExon 18: 5,576,240–5,576,454, 215 basesExon 17: 5,584,623–5,584,850, 228 basesExon 16: 5,615,422–5,615,544, 123 basesExon 15: 5,618,478–5,618,682, 205 basesExon 14: 5,622,537–5,622,991, 455 basesExon 13: 5,625,749–5,625,908, 160 basesExon 12: 5,628,559–5,628,734, 176 basesExon 11: 5,631,793–5,632,032, 240 basesExon 10: 5,640,514–5,640,838, 325 basesExon 9: 5,663,107–5,663,246, 140 basesExon 8: 5,665,515–5,665,649, 135 basesExon 7: 5,681,260–5,681,313, 54 basesExon 6: 5,685,370–5,685,479, 110 basesExon 5: 5,689,157–5,689,343, 187 basesExon 4: 5,691,265–5,691,333, 69 basesExon 3: 5,694,335–5,694,501, 167 basesExon 2: 5,697,593–5,697,647, 55 basesExon 1: 5,708,286–5,708,559, 274 bases22201816141210864215′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 4.4 kb of the gene's 146.1 kb; 3,927 of those bases code for the protein.

How a genome test reads EVC2

351

positions in EVC2 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 146.1 kb of EVC2, introns included, not only the 4.4 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.). EVC2 gene: EvC ciliary complex subunit 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/evc2

Vancouver

Dante Labs. EVC2 gene: EvC ciliary complex subunit 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/evc2

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test