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Aliases for MEGF8 Gene

Aliases for MEGF8 Gene

  • 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
  • Multiple Epidermal Growth Factor-Like Domains Protein 8 3
  • 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
  • Multiple EGF-Like-Domains 8 2
  • 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.

Additional gene information for MEGF8 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H041934 1.6 FANTOM5 Ensembl ENCODE 20.8 -390.0 -389956 2.6 HDGF PKNOX1 ZSCAN4 KLF17 YBX1 ZNF2 RAD21 ZEB1 GLIS2 ZNF366 MEGF8 CIC HNRNPUL1 ZNF526 GRIK5 RABAC1 ARHGEF1 ZNF574 DEDD2 LOC100505585
GH19H041499 1.3 Ensembl ENCODE 22.9 -824.7 -824746 2.5 SIN3A FEZF1 ZNF2 ELK1 ZNF302 FOS KLF7 ATF7 SP3 YY2 NUMBL CYP2G1P SNRPA HNRNPUL1 PCAT19 ZNF526 CCDC97 MEGF8 ENSG00000269843 ZNF574
GH19H042196 1.5 Ensembl ENCODE dbSUPER 15.5 -124.8 -124806 8.8 HDGF PKNOX1 ATF1 ARNT TCF12 ZNF121 ELK1 ZNF143 ATF7 RUNX3 ZNF526 ZNF574 MEGF8 HNRNPUL1 CCDC97 GRIK5 GSK3A LOC100505622 CIC PRR19
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000288487 91 1401 HDGF ARNT ARID4B SIN3A ZNF2 ZBTB7B YY1 ZNF143 SP3 SP5
ENSR00000109796 1091 201 CTCF

Genomic Locations for MEGF8 Gene

Genomic Locations for MEGF8 Gene
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

Post-translational modifications for MEGF8 Gene

  • Glycosylation at Asn50, Asn217, Asn1048, posLast=11151115, Asn1271, Asn2066, and posLast=22292229
  • 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

Gene Families for MEGF8 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for MEGF8 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for MEGF8 Gene

Function for MEGF8 Gene

Phenotypes From GWAS Catalog for MEGF8 Gene

Gene Ontology (GO) - Molecular Function for MEGF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 21078624
genes like me logo Genes that share ontologies with MEGF8: view
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

miRNA for MEGF8 Gene

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MEGF8 gene
Compartment Confidence
extracellular 5
nucleus 4
plasma membrane 3

Gene Ontology (GO) - Cellular Components for MEGF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with MEGF8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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:0007368 determination of left/right symmetry IEA --
GO:0010468 regulation of gene expression IEA,ISS --
GO:0030326 embryonic limb morphogenesis IEA,ISS --
GO:0030509 BMP signaling pathway ISS,IEA --
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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

NURSA nuclear receptor signaling pathways regulating expression of MEGF8 Gene:


SOURCE GeneReport for Unigene cluster for MEGF8 Gene:


Evidence on tissue expression from TISSUES for MEGF8 Gene

  • Nervous system(4.4)
  • Bone marrow(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MEGF8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
  • breast
  • chest wall
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • ureter
  • urinary bladder
  • uterus
  • vagina
  • vas deferens
  • vulva
  • digit
  • femur
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shin
  • thigh
  • tibia
  • toe
  • upper limb
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with MEGF8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
(Pan troglodytes)
Mammalia MEGF8 33 34
  • 98.04 (n)
(Canis familiaris)
Mammalia MEGF8 33 34
  • 89.87 (n)
(Bos Taurus)
Mammalia MEGF8 33 34
  • 88.87 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 88 (a)
-- 34
  • 68 (a)
(Mus musculus)
Mammalia Megf8 33 16 34
  • 87.88 (n)
(Rattus norvegicus)
Mammalia Megf8 33
  • 87.5 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 83 (a)
-- 34
  • 81 (a)
-- 34
  • 79 (a)
-- 34
  • 78 (a)
-- 34
  • 77 (a)
-- 34
  • 62 (a)
(Anolis carolinensis)
Reptilia MEGF8 34
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia megf8 33
  • 61.51 (n)
Str.17453 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15238 33
(Danio rerio)
Actinopterygii megf8 33 34
  • 60.15 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008185 33
  • 48.54 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7466 33 34
  • 47.63 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
Species where no ortholog for MEGF8 was found in the sources mined by GeneCards:
  • 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
rs397515427 Pathogenic, Carpenter syndrome 2 (CRPT2) [MIM:614976] 42,356,848(+) GCCCC(A/G)CTCCT reference, missense
rs397515428 Pathogenic, Carpenter syndrome 2 (CRPT2) [MIM:614976] 42,375,537(+) ACGGG(A/G)GTCCG reference, missense
VAR_069305 Carpenter syndrome 2 (CRPT2) [MIM:614976]
rs397514621 Pathogenic 42,336,904(+) GGGAG(C/T)GAGCC reference, stop-gained
rs147216997 Likely benign 42,375,910(+) TGGGC(C/T)GGGCG reference, missense

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

Variant ID Type Subtype PubMed ID
nsv833834 CNV loss 17160897
nsv526186 CNV gain 19592680
nsv522854 CNV gain 19592680
nsv520239 CNV loss 19592680
nsv1160627 CNV deletion 26073780
esv3574530 CNV gain 25503493
esv2422471 CNV deletion 17116639

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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: HGMD, 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 60
  2. Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. (PMID: 23063620) Twigg SR … Wilkie AO (American journal of human genetics 2012) 3 4 60
  3. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PMID: 16335952) Liu T … Smith RD (Journal of proteome research 2005) 3 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for MEGF8 Gene

Sources for MEGF8 Gene

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