Free for academic non-profit institutions. Other users need a Commercial license

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
  • Multiple EGF-Like Domains Protein 8 4
  • Chromosome 19 Open Reading Frame 49 2
  • HBV Pre-S2-Binding Protein 1 3
  • HBV Pre-S2 Binding Protein 1 3
  • HBV Pre S2 Binding Protein 1 2
  • 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 1. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is ATRN.

UniProtKB/Swiss-Prot for MEGF8 Gene

  • Acts as a negative regulator of hedgehog signaling.

Additional gene information for MEGF8 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MEGF8 Gene

Genomics for MEGF8 Gene

GeneHancer (GH) Regulatory Elements for MEGF8 Gene

Promoters and enhancers for MEGF8 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J042324 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 669 +0.2 216 2 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B ZNF213 MEGF8 ZNF574 ZNF526 TMEM145 GC19M042311
GH19J042323 Enhancer 0.5 ENCODE 650.7 -1.9 -1945 0.2 SP1 USF1 POLR2A MAX SIN3A USF2 EZH2 MEGF8 GC19M042311 TMEM145
GH19J042276 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE dbSUPER 24.4 -43.7 -43696 11.1 YBX1 E2F8 ZNF416 ZNF143 SP3 NFYC ZFP41 SSRP1 ZNF610 GLIS1 ZNF526 ZNF574 CCDC97 MEGF8 CEACAMP1 CEACAMP10 CIC PSG6 GRIK5 DEDD2
GH19J042267 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 18 -54.7 -54721 6.9 MLX FEZF1 YBX1 YY1 SLC30A9 E2F8 ZNF143 ZNF548 SP3 NFYC CIC PIR59110 ZNF526 ZNF574 CCDC97 DEDD2 MEGF8 CEACAM3 PRR19 PAFAH1B3
GH19J041348 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 14.4 -974.0 -973996 6.9 HDGF PKNOX1 ZFP64 ARID4B SIN3A YBX1 DMAP1 IRF4 YY1 ZNF213 TMEM91 ENSG00000255730 TGFB1 ZNF526 SNRPA ZNF574 HNRNPUL1 CCDC97 ENSG00000269843 COQ8B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MEGF8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MEGF8 gene promoter:
  • AP-2gamma
  • Elk-1
  • HSF2
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • Bach1
  • NF-1
  • STAT1
  • STAT1alpha

Genomic Locations for MEGF8 Gene

Genomic Locations for MEGF8 Gene
53,161 bases
Plus strand
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 isoforms=22229, isoforms=22066, posLast=12711271, posLast=11151115, isoforms=21048, isoforms=2217, and isoforms=250
  • 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

Molecular function for MEGF8 Gene

UniProtKB/Swiss-Prot Function:
Acts as a negative regulator of hedgehog signaling.

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

  • Taconic Biosciences Mouse Models for MEGF8

miRNA for MEGF8 Gene

Clone Products

No data available for 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 HDA 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

mRNA/cDNA 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 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 34 33
  • 98.04 (n)
(Canis familiaris)
Mammalia MEGF8 34 33
  • 89.87 (n)
(Bos Taurus)
Mammalia MEGF8 34 33
  • 88.87 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 88 (a)
-- 34
  • 68 (a)
(Mus musculus)
Mammalia Megf8 16 34 33
  • 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 34 33
  • 60.15 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008185 33
  • 48.54 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7466 34 33
  • 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)
Evolutionary constrained regions (ECRs) for MEGF8: view image

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 Variation AA Info Type
rs10411498 benign, Carpenter syndrome 2 42,352,925(+) C/T intron_variant
rs10425783 benign, Carpenter syndrome 2 42,368,937(+) G/A coding_sequence_variant, synonymous_variant
rs112167630 benign, Carpenter syndrome 2 42,370,749(+) G/A coding_sequence_variant, missense_variant
rs112519292 benign, Carpenter syndrome 2 42,369,011(+) G/A/C intron_variant
rs115335139 benign, Carpenter syndrome 2 42,353,010(+) C/T coding_sequence_variant, synonymous_variant

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

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

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)

Additional Variant Information for MEGF8 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
carpenter syndrome 2
  • crpt2
carpenter syndrome 1
  • crpt1
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.

Additional Disease Information for MEGF8

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 58
  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 58
  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 58
  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 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for MEGF8 Gene

Sources for MEGF8 Gene

Loading form....