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
  • EGFL4 3 4 6
  • Epidermal Growth Factor-Like Protein 4 3 4
  • EGF-Like-Domain, Multiple 4 2 3
  • C19orf49 3 4
  • CRPT2 3 6
  • 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
  • EGF-Like Protein 4 4
  • KIAA0817 4
  • 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 structural molecule 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

Genomic Location for MEGF8 Gene

Start:
42,325,609 bp from pter
End:
42,378,769 bp from pter
Size:
53,161 bases
Orientation:
Plus strand

Genomic View for MEGF8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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=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

    UniProtKB/Swiss-Prot:

neXtProt entry for MEGF8 Gene

Proteomics data for MEGF8 Gene at MOPED

Post-translational modifications for MEGF8 Gene

  • Glycosylation at Asn50, Asn217, Asn1048, Asn1115, Asn1271, Asn2066, and Asn2229
  • Modification sites at PhosphoSitePlus

Other Protein References for MEGF8 Gene

No data available for DME Specific Peptides for MEGF8 Gene

Domains for MEGF8 Gene

Suggested Antigen Peptide Sequences for MEGF8 Gene

Graphical View of Domain Structure for InterPro Entry

Q7Z7M0

UniProtKB/Swiss-Prot:

MEGF8_HUMAN :
  • Q7Z7M0
Domain:
  • Contains 2 CUB domains.
  • Contains 5 EGF-like domains.
  • Contains 4 laminin EGF-like domains.
  • Contains 7 PSI domains.
Similarity:
  • 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

Gene Ontology (GO) - Molecular Function for MEGF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity IEA --
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

miRNA for MEGF8 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for MEGF8 Gene COMPARTMENTS Subcellular localization image for MEGF8 gene
Compartment Confidence
plasma membrane 3
extracellular 2

Gene Ontology (GO) - Cellular Components for MEGF8 Gene

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

Pathways 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:0007275 multicellular organismal development --
GO:0010468 regulation of gene expression ISS --
GO:0030326 embryonic limb morphogenesis ISS --
GO:0030509 BMP signaling pathway ISS --
genes like me logo Genes that share ontologies with MEGF8: view

No data available for Pathways by source for MEGF8 Gene

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: -
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
ECgene alternative splicing isoforms for
MEGF8

Expression for MEGF8 Gene

mRNA expression in normal human tissues for MEGF8 Gene

Integrated Proteomics: protein expression 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 expressions with MEGF8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues 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 35
  • 98.04 (n)
  • 97.87 (a)
MEGF8 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MEGF8 35
  • 88.87 (n)
  • 93.61 (a)
MEGF8 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MEGF8 35
  • 89.87 (n)
  • 95.57 (a)
MEGF8 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Megf8 35
  • 87.88 (n)
  • 95.52 (a)
Megf8 16
Megf8 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 68 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 83 (a)
OneToMany
-- 36
  • 62 (a)
OneToMany
-- 36
  • 77 (a)
OneToMany
-- 36
  • 79 (a)
OneToMany
-- 36
  • 78 (a)
OneToMany
-- 36
  • 81 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Megf8 35
  • 87.5 (n)
  • 95.52 (a)
lizard
(Anolis carolinensis)
Reptilia MEGF8 36
  • 66 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15238 35
tropical clawed frog
(Silurana tropicalis)
Amphibia megf8 35
  • 61.51 (n)
  • 61.98 (a)
Str.17453 35
zebrafish
(Danio rerio)
Actinopterygii megf8 35
  • 60.15 (n)
  • 58.81 (a)
megf8 36
  • 54 (a)
OneToOne
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)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
OneToOne
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

ENSEMBL:
Gene Tree for MEGF8 (if available)
TreeFam:
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 MAF
rs851291 -- 42,341,899(-) TGCAG(A/G)TATAA intron-variant
rs851292 -- 42,340,723(-) gctac(C/T)gcact intron-variant
rs851293 -- 42,339,013(-) ctact(A/G)aaaat intron-variant
rs851294 -- 42,373,240(-) tggta(C/T)gtgcc intron-variant
rs851295 -- 42,372,470(-) GCGGG(G/T)AGGTG 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

Relevant External Links for MEGF8 Gene

HapMap Linkage Disequilibrium report
MEGF8
Human Gene Mutation Database (HGMD)
MEGF8

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

Disorders for MEGF8 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for MEGF8 Gene including...

Search for MEGF8 Gene in MalaCards »

(1) OMIM Diseases for MEGF8 Gene (604267)

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.

(2) University of Copenhagen DISEASES for MEGF8 Gene

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

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
  2. Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. (PMID: 23063620) Twigg S.R. … Wilkie A.O. (Am. J. Hum. Genet. 2012) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PMID: 16335952) Liu T. … Smith R.D. (J. Proteome Res. 2005) 3 4
  5. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PMID: 16712791) Wang A.G. … Kim N.S. (Biochem. Biophys. Res. Commun. 2006) 3

Products for MEGF8 Gene

Sources for MEGF8 Gene

Back to Top

Content