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] See more...

Aliases for MEGF8 Gene

Aliases for MEGF8 Gene

  • Multiple EGF Like Domains 8 2 3 5
  • Multiple Epidermal Growth Factor-Like Domains Protein 8 3 4
  • 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
  • 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. Among its related pathways are Hedgehog signaling pathway (KEGG). Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is HSPG2.

UniProtKB/Swiss-Prot Summary for MEGF8 Gene

Additional gene information for MEGF8 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification 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
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J042323 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 518.9 0.0 -8 4.4 FOXK2 ZNF217 CTCF NRF1 TCF12 MYC POLR2G USF1 SP1 ZFX MEGF8 ZNF526 RPS19 TMEM145
GH19J042276 Promoter/Enhancer 2.4 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 24.4 -43.7 -43696 11.1 RXRA HNRNPK ZNF217 EP300 CTCF NRF1 TCF12 ZNF300 POLR2G SP1 ZNF526 ZNF574 MEGF8 CCDC97 GRIK5 DEDD2 CEACAM8 PAFAH1B3 TMEM145 CEACAM3
GH19J042267 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 18 -54.7 -54739 6.9 EP300 FOXK2 ZBTB40 ZNF217 SIN3A NRF1 TCF12 MYC POLR2G USF1 CIC piR-36065 ZNF526 ZNF574 DEDD2 MEGF8 CEACAM3 PAFAH1B3 PRR19 GSK3A
GH19J041376 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 20.8 -947.5 -947483 5.1 CTCF TCF12 ZNF300 POLR2G NCOR1 JUND ZIC2 ZBTB10 ZNF623 ZBTB26 TMEM91 MEGF8 CYP2G1P EXOSC5 SPTBN4 ZNF574 GRIK5 TGFB1 NUMBL CCDC97
GH19J041348 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 14.4 -973.9 -973933 7.1 RXRA HNRNPK CTCF ZSCAN5C TCF12 POLR2G SP1 PHF8 ZNF354C ZIC2 TMEM91 ENSG00000255730 TGFB1 ZNF574 ZNF526 HNRNPUL1 SNRPA CCDC97 ENSG00000269843 CYP2G1P
- 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MEGF8

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

Genomic Locations for MEGF8 Gene

Genomic Locations for MEGF8 Gene
chr19:42,325,609-42,378,769
(GRCh38/hg38)
Size:
53,161 bases
Orientation:
Plus strand
chr19:42,829,761-42,882,921
(GRCh37/hg19)
Size:
53,161 bases
Orientation:
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:
    Q7Z7M0-MEGF8_HUMAN
    Recommended name:
    Multiple epidermal growth factor-like domains protein 8
    Protein Accession:
    Q7Z7M0
    Secondary Accessions:
    • A8KAY0
    • O75097

    Protein attributes for MEGF8 Gene

    Size:
    2845 amino acids
    Molecular mass:
    303100 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAP35084.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAA32469.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for MEGF8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MEGF8 Gene

Post-translational modifications for MEGF8 Gene

  • Glycosylation at Asn50, Asn217, Asn421, Asn1048, Asn1115, Asn1201, Asn1271, Asn1600, Asn2066, and Asn2229
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • MEGF8_HUMAN (1959)

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

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

Protein Domains for MEGF8 Gene

Blocks:
  • Aspartic acid and asparagine hydroxylation site
  • CUB domain
  • Laminin-type EGF-like domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MEGF8 Gene

GenScript: Design optimal peptide antigens:
  • Epidermal growth factor-like protein 4 (MEGF8_HUMAN)
  • MEGF8 protein (Q05BT0_HUMAN)
genes like me logo Genes that share domains with MEGF8: view

No data available for Graphical View of Domain Structure and 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,IEA 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

COMPARTMENTS
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
nucleus 4
plasma membrane 3
extracellular 2
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MEGF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS,IEA --
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

PathCards logo

SuperPathways for MEGF8 Gene

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

Pathways by source for MEGF8 Gene

1 KEGG pathway for MEGF8 Gene

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:0009887 animal organ morphogenesis IBA 21873635
GO:0009888 tissue development IBA 21873635
GO:0010468 regulation of gene expression ISS,IEA --
genes like me logo Genes that share ontologies with MEGF8: view

No data available for 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

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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: -
SP3:
SP4:
SP5:

ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34a · 34b ^ 35 ^ 36 ^ 37 ^ 38a · 38b ^ 39 ^ 40a · 40b
SP1: -
SP2: -
SP3: - -
SP4:
SP5: -

Relevant External Links for MEGF8 Gene

GeneLoc Exon Structure for
MEGF8

Expression for MEGF8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MEGF8

SOURCE GeneReport for Unigene cluster for MEGF8 Gene:

Hs.132483

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
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
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
Thorax:
  • breast
  • chest wall
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • ureter
  • urinary bladder
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • digit
  • femur
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shin
  • thigh
  • tibia
  • toe
  • upper limb
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia MEGF8 31 30
  • 98.04 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MEGF8 31 30
  • 89.87 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MEGF8 31 30
  • 88.87 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 88 (a)
OneToMany
-- 31
  • 68 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Megf8 17 31 30
  • 87.88 (n)
rat
(Rattus norvegicus)
Mammalia Megf8 30
  • 87.5 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 83 (a)
OneToMany
-- 31
  • 81 (a)
OneToMany
-- 31
  • 79 (a)
OneToMany
-- 31
  • 78 (a)
OneToMany
-- 31
  • 77 (a)
OneToMany
-- 31
  • 62 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia MEGF8 31
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia megf8 30
  • 61.51 (n)
Str.17453 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.15238 30
zebrafish
(Danio rerio)
Actinopterygii megf8 31 30
  • 60.15 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008185 30
  • 48.54 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7466 31 30
  • 47.63 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 30 (a)
OneToOne
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

ENSEMBL:
Gene Tree for MEGF8 (if available)
TreeFam:
Gene Tree for MEGF8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MEGF8: view image

Paralogs for MEGF8 Gene

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

Variants for MEGF8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MEGF8 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
645690 Uncertain Significance: Carpenter syndrome 2 42,335,967(+) G/A MISSENSE_VARIANT
646497 Uncertain Significance: Carpenter syndrome 2 42,356,182(+) C/T MISSENSE_VARIANT
646982 Uncertain Significance: Carpenter syndrome 2 42,376,724(+) G/A SYNONYMOUS_VARIANT
647652 Uncertain Significance: Carpenter syndrome 2 42,376,046(+) G/T MISSENSE_VARIANT
649987 Uncertain Significance: Carpenter syndrome 2 42,356,865(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MEGF8 Gene

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)
MEGF8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MEGF8

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

(5) MalaCards diseases for MEGF8 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
carpenter syndrome 2
  • crpt2
carpenter syndrome 1
  • crpt1
umbilical hernia
  • hernia, umbilical
prostate small cell carcinoma
  • prostate oat cell carcinoma
apert syndrome
  • acrocephalosyndactyly, type i; acs1
- elite association - COSMIC cancer census association via MalaCards
Search MEGF8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MEGF8_HUMAN
  • 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 54
  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 54
  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 54
  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 54
  5. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 54

Products for MEGF8 Gene

Sources for MEGF8 Gene