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Aliases for MEGF8 Gene

Aliases for MEGF8 Gene

  • Multiple EGF Like Domains 8 2 3
  • Multiple EGF-Like-Domains 8 2 3 5
  • Epidermal Growth Factor-Like Protein 4 3 4
  • EGF-Like-Domain, Multiple 4 2 3
  • C19orf49 3 4
  • EGFL4 3 4
  • Hepatitis B Virus Pre-S2-Binding Protein 1 3
  • EGF-Like Domain-Containing Protein 4 3
  • Chromosome 19 Open Reading Frame 49 2
  • Multiple EGF-Like Domains Protein 8 4
  • HBV Pre S2 Binding Protein 1 2
  • HBV Pre-S2-Binding Protein 1 3
  • HBV Pre-S2 Binding Protein 1 3
  • EGF-Like Protein 4 4
  • KIAA0817 4
  • CRPT2 3
  • SBP1 3

External Ids for MEGF8 Gene

Previous HGNC Symbols for MEGF8 Gene

  • EGFL4
  • C19orf49

Previous GeneCards Identifiers for MEGF8 Gene

  • GC19P047521
  • GC19P042829
  • GC19P039259

Summaries for MEGF8 Gene

Entrez Gene Summary for MEGF8 Gene

  • The protein encoded by this gene is a single-pass type I membrane protein of unknown function that contains several EGF-like domains, Kelch repeats, and PSI domains. Defects in this gene are a cause of Carpenter syndrome 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

GeneCards Summary for MEGF8 Gene

MEGF8 (Multiple EGF Like Domains 8) is a Protein Coding gene. Diseases associated with MEGF8 include Carpenter Syndrome 2 and Carpenter Syndrome. GO annotations related to this gene include calcium ion binding and receptor activity. An important paralog of this gene is ATRN.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MEGF8 Gene

Genomics for MEGF8 Gene

Regulatory Elements for MEGF8 Gene

Enhancers for MEGF8 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MEGF8 on UCSC Golden Path with GeneCards custom track

Promoters for MEGF8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MEGF8 on UCSC Golden Path with GeneCards custom track

Genomic Location for MEGF8 Gene

42,325,609 bp from pter
42,378,769 bp from pter
53,161 bases
Plus strand

Genomic View for MEGF8 Gene

Genes around MEGF8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MEGF8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MEGF8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MEGF8 Gene

Proteins for MEGF8 Gene

  • Protein details for MEGF8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Multiple epidermal growth factor-like domains protein 8
    Protein Accession:
    Secondary Accessions:
    • A8KAY0
    • O75097

    Protein attributes for MEGF8 Gene

    2845 amino acids
    Molecular mass:
    303100 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAP35084.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAA32469.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for MEGF8 Gene


neXtProt entry for MEGF8 Gene

Proteomics data for MEGF8 Gene at MOPED

Post-translational modifications for MEGF8 Gene

  • Glycosylation at Asn 50, Asn 217, Asn 1048, Asn 1115, Asn 1271, Asn 2066, and Asn 2229
  • Modification sites at PhosphoSitePlus

Other Protein References for MEGF8 Gene

No data available for DME Specific Peptides for MEGF8 Gene

Domains & Families for MEGF8 Gene

Suggested Antigen Peptide Sequences for MEGF8 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 2 CUB domains.
  • Contains 12 Kelch repeats.
  • Contains 2 CUB domains.
  • Contains 5 EGF-like domains.
  • Contains 4 laminin EGF-like domains.
  • Contains 7 PSI domains.
  • Contains 12 Kelch repeats.
genes like me logo Genes that share domains with MEGF8: view

No data available for Gene Families for MEGF8 Gene

Function for MEGF8 Gene

genes like me logo Genes that share phenotypes with MEGF8: view

Human Phenotype Ontology for MEGF8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MEGF8 Gene

MGI Knock Outs for MEGF8:

Animal Model Products

  • Taconic Biosciences Mouse Models for MEGF8

miRNA for MEGF8 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for MEGF8 Gene

Localization for MEGF8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MEGF8 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

Jensen Localization Image for MEGF8 Gene COMPARTMENTS Subcellular localization image for MEGF8 gene
Compartment Confidence
extracellular 5
nucleus 4
plasma membrane 3

No data available for Gene Ontology (GO) - Cellular Components for MEGF8 Gene

Pathways & Interactions for MEGF8 Gene

SuperPathways for MEGF8 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MEGF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003143 embryonic heart tube morphogenesis ISS --
GO:0010468 regulation of gene expression IEA,ISS --
GO:0030509 BMP signaling pathway IEA,ISS --
GO:0042074 cell migration involved in gastrulation IMP 23063620
GO:0048704 embryonic skeletal system morphogenesis IEA,ISS --
genes like me logo Genes that share ontologies with MEGF8: view

No data available for Pathways by source and SIGNOR curated interactions for MEGF8 Gene

Drugs & Compounds for MEGF8 Gene

No Compound Related Data Available

Transcripts for MEGF8 Gene

Unigene Clusters for MEGF8 Gene

Multiple EGF-like-domains 8:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MEGF8 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1: - -
SP2: -

ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34a · 34b ^ 35 ^ 36 ^ 37 ^ 38a · 38b ^ 39 ^ 40a · 40b
SP1: -
SP2: -
SP3: - -
SP5: -

Relevant External Links for MEGF8 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MEGF8 Gene

mRNA expression in normal human tissues for MEGF8 Gene

Protein differential expression in normal tissues from HIPED for MEGF8 Gene

This gene is overexpressed in Serum (39.0), Vitreous humor (12.6), and Urine (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MEGF8 Gene

SOURCE GeneReport for Unigene cluster for MEGF8 Gene Hs.132483

genes like me logo Genes that share expression patterns with MEGF8: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for MEGF8 Gene

Orthologs for MEGF8 Gene

This gene was present in the common ancestor of animals.

Orthologs for MEGF8 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia MEGF8 35
  • 88.87 (n)
  • 93.61 (a)
MEGF8 36
  • 86 (a)
(Canis familiaris)
Mammalia MEGF8 35
  • 89.87 (n)
  • 95.57 (a)
MEGF8 36
  • 94 (a)
(Mus musculus)
Mammalia Megf8 35
  • 87.88 (n)
  • 95.52 (a)
Megf8 16
Megf8 36
  • 94 (a)
(Pan troglodytes)
Mammalia MEGF8 35
  • 98.04 (n)
  • 97.87 (a)
MEGF8 36
  • 97 (a)
(Rattus norvegicus)
Mammalia Megf8 35
  • 87.5 (n)
  • 95.52 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 68 (a)
-- 36
  • 88 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 83 (a)
-- 36
  • 62 (a)
-- 36
  • 77 (a)
-- 36
  • 79 (a)
-- 36
  • 78 (a)
-- 36
  • 81 (a)
(Anolis carolinensis)
Reptilia MEGF8 36
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia megf8 35
  • 61.51 (n)
  • 61.98 (a)
Str.17453 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.15238 35
(Danio rerio)
Actinopterygii megf8 35
  • 60.15 (n)
  • 58.81 (a)
megf8 36
  • 54 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008185 35
  • 48.54 (n)
  • 38.24 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7466 35
  • 47.63 (n)
  • 37.91 (a)
CG7466 36
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
Species with no ortholog for MEGF8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MEGF8 Gene

Gene Tree for MEGF8 (if available)
Gene Tree for MEGF8 (if available)

Paralogs for MEGF8 Gene

Paralogs for MEGF8 Gene

genes like me logo Genes that share paralogs with MEGF8: view

Variants for MEGF8 Gene

Sequence variations from dbSNP and Humsavar for MEGF8 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_069305 Carpenter syndrome 2 (CRPT2)
VAR_069306 Carpenter syndrome 2 (CRPT2)
VAR_069307 Carpenter syndrome 2 (CRPT2)
rs851291 -- 42,341,899(-) TGCAG(A/G)TATAA intron-variant
rs851292 -- 42,340,723(-) gctac(C/T)gcact intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MEGF8 Gene

Variant ID Type Subtype PubMed ID
nsv522854 CNV Gain 19592680
nsv520239 CNV Loss 19592680
nsv911782 CNV Loss 21882294
nsv526186 CNV Gain 19592680
esv2422471 CNV Deletion 17116639
nsv833834 CNV Loss 17160897
nsv911785 CNV Loss 21882294

Variation tolerance for MEGF8 Gene

Residual Variation Intolerance Score: 4.12% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.62; 65.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MEGF8 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MEGF8 Gene

Disorders for MEGF8 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MEGF8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
carpenter syndrome 2
  • crpt2
carpenter syndrome
  • acrocephalopolysyndactyly type ii
umbilical hernia
  • hernia, umbilical
- elite association - COSMIC cancer census association via MalaCards
Search MEGF8 in MalaCards View complete list of genes associated with diseases


  • Carpenter syndrome 2 (CRPT2) [MIM:614976]: An autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease. {ECO:0000269 PubMed:23063620}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MEGF8

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with MEGF8: view

No data available for Genatlas for MEGF8 Gene

Publications for MEGF8 Gene

  1. Identification of high-molecular-weight proteins with multiple EGF- like motifs by motif-trap screening. (PMID: 9693030) Nakayama M. … Ohara O. (Genomics 1998) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3
  4. In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine. (PMID: 23533145) Principe S. … Drake R.R. (Proteomics 2013) 3
  5. Proteomic identification of common SCF ubiquitin ligase FBXO6-interacting glycoproteins in three kinds of cells. (PMID: 22268729) Liu B. … Wang L.S. (J. Proteome Res. 2012) 3

Products for MEGF8 Gene

Sources for MEGF8 Gene