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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 ATRNL1.

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
GH19G041934 1.7 FANTOM5 Ensembl ENCODE 31 -390.0 -389956 2.6 HDGF FOXA2 PKNOX1 ARID4B YBX1 ZNF2 YY1 GLIS2 ZNF207 ZNF143 MEGF8 GRIK5 RABAC1 ARHGEF1 ZNF574 DEDD2 LOC100505585
GH19G042276 1.8 FANTOM5 ENCODE dbSUPER 24.4 -43.7 -43696 11.1 CREB3L1 AGO1 YBX1 ZNF416 ZNF143 ZNF263 SP3 NFYC TBX21 ZFP41 MEGF8 ZNF574 ZNF526 GRIK5 DEDD2 CEACAM8 PAFAH1B3 TMEM145 CEACAM3 PRR19
GH19G041406 1.8 FANTOM5 Ensembl ENCODE dbSUPER 20.8 -916.9 -916870 4.3 HDGF FOXA2 AGO1 GLI4 ZNF48 ZBTB7B GLIS2 FOS ZNF202 YY2 TMEM91 NUMBL ATP5SL MEGF8 EXOSC5 TGFB1 GRIK5 B9D2 ERICH4 CCDC97
GH19G042267 1.9 FANTOM5 ENCODE dbSUPER 18 -54.7 -54722 6.9 MLX CREB3L1 FEZF1 YBX1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 ZNF526 DEDD2 MEGF8 CEACAM3 CIC PRR19 PAFAH1B3 GSK3A ZNF574 TMEM145
GH19G041499 1.3 Ensembl ENCODE 22.9 -824.7 -824746 2.5 SIN3A FEZF1 ZNF2 ELK1 ZNF302 KLF7 FOS SP3 YY2 REST NUMBL SNRPA PCAT19 ZNF526 CCDC97 MEGF8 ENSG00000269843 ZNF574 COQ8B CIC
- 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 CREB3L1 ARNT ARID4B SIN3A ZNF2 ZBTB7B YY1 ZNF143 KLF13
ENSR00000109796 1091 201

Genomic Location for MEGF8 Gene

Chromosome:
19
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

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=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

Post-translational modifications for MEGF8 Gene

  • Glycosylation at Asn50, Asn217, posLast=10481048, posLast=11151115, posLast=12711271, posLast=20662066, and Asn2229
  • 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

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

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

Function 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

CRISPR Products

miRNA for MEGF8 Gene

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

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
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 ISS,IEA --
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

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 ISS,IEA --
GO:0030509 BMP signaling pathway 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

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 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:

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
Organs:
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

Primer Products

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 34 35
  • 98.04 (n)
dog
(Canis familiaris)
Mammalia MEGF8 34 35
  • 89.87 (n)
cow
(Bos Taurus)
Mammalia MEGF8 34 35
  • 88.87 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 88 (a)
OneToMany
-- 35
  • 68 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Megf8 34 16 35
  • 87.88 (n)
rat
(Rattus norvegicus)
Mammalia Megf8 34
  • 87.5 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 83 (a)
OneToMany
-- 35
  • 81 (a)
OneToMany
-- 35
  • 79 (a)
OneToMany
-- 35
  • 78 (a)
OneToMany
-- 35
  • 77 (a)
OneToMany
-- 35
  • 62 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia MEGF8 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia megf8 34
  • 61.51 (n)
Str.17453 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.15238 34
zebrafish
(Danio rerio)
Actinopterygii megf8 34 35
  • 60.15 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008185 34
  • 48.54 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7466 34 35
  • 47.63 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

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
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)

Relevant External Links for MEGF8 Gene

Human Gene Mutation Database (HGMD)
MEGF8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MEGF8

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

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.

Relevant External Links for MEGF8

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 64
  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 64
  3. 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 64
  4. 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 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for MEGF8 Gene

Sources for MEGF8 Gene

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