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Gene

MEGF8

multiple EGF like domains 8

Summary

Cytogenetic location
19q13.2
Coordinates
Chromosome 19: 42,325,635–42,378,765 (GRCh38)
Exons
42 exons across 53.1 kb
Protein
2,845 amino acids
Also known as
SBP1, FLJ22365
Previous symbols
EGFL4, C19orf49
MANE Select transcript
ENST00000251268.11NM_001271938.2
Locus type
gene with protein product

Reference genomeGRCh38

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

Curated report relevant to this gene

  • Syndromic Craniosynostosis

    • Conditions combining early skull suture closure with other features, including Apert, Crouzon, Pfeiffer, Muenke and Saethre-Chotzen syndromes, caused by genes such as FGFR2, FGFR3, FGFR1, TWIST1, TCF12 and ERF.

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

      Early diagnosis allows timely surgery and monitoring of head growth, vision and hearing; milder forms such as Muenke syndrome can go unrecognised in adults, which is relevant to family planning.

How MEGF8 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 19, with a bracket where MEGF8 sits. MEGF8 and 28 genes near it on chromosome 19, from 41,852,200 to 42,852,199.Chromosome 1919q13.2p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4342 Mb42.2 Mb42.4 Mb42.6 Mb42.8 MbDMRTC2: 41,844,743–41,852,333, forward strandDMRTC2RPS19: 41,859,848–41,872,931, forward strandRPS19CD79A: 41,877,104–41,881,372, forward strandCD79AARHGEF1: 41,883,063–41,930,150, forward strandARHGEF1ERFL: 41,907,704–41,928,449, reverse strandERFLRABAC1: 41,956,681–41,959,390, reverse strandRABAC1: 41,956,879–41,994,232, reverse strandATP1A3: 41,966,582–41,997,497, reverse strandATP1A3GRIK5: 41,998,315–42,070,240, reverse strandGRIK5ZNF574: 42,068,477–42,083,096, forward strandZNF574POU2F2: 42,086,110–42,196,585, reverse strandPOU2F2DEDD2: 42,198,593–42,220,140, reverse strand: 42,215,133–42,232,149, reverse strandZNF526: 42,216,774–42,231,887, forward strandZNF526GSK3A: 42,226,225–42,242,625, reverse strandGSK3A: 42,234,583–42,255,132, reverse strandERF: 42,247,569–42,255,172, reverse strandERFCIC: 42,268,508–42,295,801, forward strandCICPAFAH1B3: 42,297,023–42,303,546, reverse strandPAFAH1B3PRR19: 42,302,098–42,310,821, forward strandPRR19TMEM145: 42,313,299–42,325,064, forward strandTMEM145MEGF8: 42,325,635–42,378,765, forward strandMEGF8CNFN: 42,387,019–42,390,299, reverse strandCNFNLIPE: 42,401,497–42,427,388, reverse strandLIPECXCL17: 42,427,995–42,443,029, reverse strandCXCL17CEACAM1: 42,507,230–42,561,234, reverse strandCEACAM1CEACAM8: 42,580,243–42,595,055, reverse strandCEACAM8PSG3: 42,709,084–42,740,524, reverse strandPSG3PSG8: 42,752,686–42,765,711, reverse strandPSG8Diagram of MEGF8: 42 exons on the forward strand of chromosome 19Exon 1: 1 known disease-causing siteExon 2: 2 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 7: 1 known disease-causing siteExon 10: 2 known disease-causing sitesExon 12: 1 known disease-causing siteExon 17: 2 known disease-causing sitesExon 20: 1 known disease-causing siteExon 21: 1 known disease-causing siteExon 22: 1 known disease-causing siteExon 23: 1 known disease-causing siteExon 24: 1 known disease-causing siteExon 25: 1 known disease-causing siteExon 28: 1 known disease-causing siteExon 30: 1 known disease-causing siteExon 36: 1 known disease-causing siteExon 38: 2 known disease-causing sitesExon 40: 1 known disease-causing siteExon 42: 1 known disease-causing siteExon 1: 42,325,635–42,326,430, 796 basesExon 2: 42,333,605–42,333,768, 164 basesExon 3: 42,334,007–42,334,213, 207 basesExon 4: 42,335,035–42,335,215, 181 basesExon 5: 42,335,297–42,335,385, 89 basesExon 6: 42,335,931–42,336,346, 416 basesExon 7: 42,336,807–42,336,952, 146 basesExon 8: 42,337,084–42,337,206, 123 basesExon 9: 42,343,477–42,343,631, 155 basesExon 10: 42,343,954–42,344,073, 120 basesExon 11: 42,344,441–42,344,585, 145 basesExon 12: 42,344,670–42,344,833, 164 basesExon 13: 42,348,272–42,348,472, 201 basesExon 14: 42,349,499–42,349,699, 201 basesExon 15: 42,350,148–42,350,384, 237 basesExon 16: 42,351,216–42,351,334, 119 basesExon 17: 42,351,429–42,351,560, 132 basesExon 18: 42,351,648–42,351,761, 114 basesExon 19: 42,352,208–42,352,456, 249 basesExon 20: 42,352,928–42,353,127, 200 basesExon 21: 42,353,465–42,353,675, 211 basesExon 22: 42,353,775–42,354,024, 250 basesExon 23: 42,354,588–42,354,720, 133 basesExon 24: 42,355,758–42,356,005, 248 basesExon 25: 42,356,083–42,356,193, 111 basesExon 26: 42,356,335–42,356,453, 119 basesExon 27: 42,356,774–42,356,981, 208 basesExon 28: 42,357,404–42,357,584, 181 basesExon 29: 42,358,144–42,358,307, 164 basesExon 30: 42,358,787–42,358,954, 168 basesExon 31: 42,359,098–42,359,242, 145 basesExon 32: 42,360,775–42,361,006, 232 basesExon 33: 42,362,090–42,362,213, 124 basesExon 34: 42,362,384–42,362,597, 214 basesExon 35: 42,363,048–42,363,262, 215 basesExon 36: 42,368,455–42,368,662, 208 basesExon 37: 42,368,843–42,369,002, 160 basesExon 38: 42,369,531–42,369,723, 193 basesExon 39: 42,370,189–42,370,359, 171 basesExon 40: 42,370,701–42,370,831, 131 basesExon 41: 42,371,350–42,371,482, 133 basesExon 42: 42,375,507–42,378,765, 3,259 bases1510152025303540425′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 11.1 kb of the gene's 53.1 kb; 8,538 of those bases code for the protein.

How a genome test reads MEGF8

30

positions in MEGF8 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 53.1 kb of MEGF8, introns included, not only the 11.1 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.
  • 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.). MEGF8 gene: multiple EGF like domains 8. Retrieved 16 October 2026, from https://dantelabs.com/genes/megf8

Vancouver

Dante Labs. MEGF8 gene: multiple EGF like domains 8 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/megf8

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