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Aliases for MEGF6 Gene

Aliases for MEGF6 Gene

  • Multiple EGF Like Domains 6 2 3 5
  • Epidermal Growth Factor-Like Protein 3 3 4
  • Multiple EGF-Like Domains Protein 6 3 4
  • EGF-Like-Domain, Multiple 3 2 3
  • EGF-Like Protein 3 3 4
  • EGFL3 3 4
  • Multiple Epidermal Growth Factor-Like Domains Protein 6 3
  • Multiple EGF-Like-Domains 6 2
  • KIAA0815 4

External Ids for MEGF6 Gene

Previous HGNC Symbols for MEGF6 Gene

  • EGFL3

Previous GeneCards Identifiers for MEGF6 Gene

  • GC01M003396
  • GC01M002699

Summaries for MEGF6 Gene

GeneCards Summary for MEGF6 Gene

MEGF6 (Multiple EGF Like Domains 6) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is MEGF11.

Additional gene information for MEGF6 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MEGF6 Gene

Genomics for MEGF6 Gene

GeneHancer (GH) Regulatory Elements for MEGF6 Gene

Promoters and enhancers for MEGF6 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
GH01I003623 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 -0.2 -190 3.1 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 E2F8 ZNF207 ZNF143 TPRG1L MEGF6 ENSG00000238260 WRAP73 ENSG00000272153 C1orf174 GC01M003596
GH01I003611 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 550.4 +13.3 13254 0.6 MXI1 KLF17 ZIC2 HIC1 ZNF335 ZFHX2 GLIS2 POLR2A ZBTB48 SCRT2 MEGF6 TPRG1L LOC105378607 ENSG00000238260 GC01M003596
GH01I003899 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.9 -275.7 -275717 2.7 CLOCK DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 NFYC C1orf174 LINC01134 PIR46444 PIR33659 TP73-AS1 WRAP73 ENSG00000272153 DFFB CEP104 MEGF6
GH01I003541 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 12.1 +79.1 79109 8.2 RING1 KLF1 USF1 ZNF449 KLF17 MAX ZIC2 ZBTB40 GLIS2 POLR2A LOC105378608 TP73-AS1 MEGF6 TPRG1L ENSG00000238260 ENSG00000225931 ARHGEF16 GC01M003505
GH01I003539 Enhancer 0.9 Ensembl ENCODE dbSUPER 17.4 +84.7 84734 2.4 MCM3 CBX1 POLR2A ZSCAN4 ZFP36 ZMYM3 ZIC2 MEGF6 C1orf174 MIR551A ENSG00000238260 TPRG1L LOC105378610 LOC105378608 GC01M003505
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MEGF6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MEGF6 gene promoter:

Genomic Locations for MEGF6 Gene

Genomic Locations for MEGF6 Gene
chr1:3,487,942-3,624,757
(GRCh38/hg38)
Size:
136,816 bases
Orientation:
Minus strand
chr1:3,404,506-3,528,059
(GRCh37/hg19)

Genomic View for MEGF6 Gene

Genes around MEGF6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MEGF6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MEGF6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MEGF6 Gene

Proteins for MEGF6 Gene

  • Protein details for MEGF6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75095-MEGF6_HUMAN
    Recommended name:
    Multiple epidermal growth factor-like domains protein 6
    Protein Accession:
    O75095
    Secondary Accessions:
    • Q4AC86
    • Q5VV39

    Protein attributes for MEGF6 Gene

    Size:
    1541 amino acids
    Molecular mass:
    161185 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA32467.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAE19678.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAE19678.1; Type=Frameshift; Positions=1522; Evidence={ECO:0000305};

    Alternative splice isoforms for MEGF6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MEGF6 Gene

Post-translational modifications for MEGF6 Gene

  • Glycosylation at posLast=252252 and posLast=739739

No data available for DME Specific Peptides for MEGF6 Gene

Domains & Families for MEGF6 Gene

Gene Families for MEGF6 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for MEGF6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MEGF6: view

No data available for UniProtKB/Swiss-Prot for MEGF6 Gene

Function for MEGF6 Gene

Phenotypes From GWAS Catalog for MEGF6 Gene

Gene Ontology (GO) - Molecular Function for MEGF6 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 MEGF6: view
genes like me logo Genes that share phenotypes with MEGF6: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MEGF6 Gene

Localization for MEGF6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MEGF6 Gene

Secreted.

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 MEGF6 gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytoskeleton 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (2)
  • Microtubules (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MEGF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with MEGF6: view

Pathways & Interactions for MEGF6 Gene

SuperPathways for MEGF6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MEGF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with MEGF6: view

No data available for Pathways by source and SIGNOR curated interactions for MEGF6 Gene

Drugs & Compounds for MEGF6 Gene

No Compound Related Data Available

Transcripts for MEGF6 Gene

Unigene Clusters for MEGF6 Gene

Multiple EGF-like-domains 6:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MEGF6 Gene

No ASD Table

Relevant External Links for MEGF6 Gene

GeneLoc Exon Structure for
MEGF6
ECgene alternative splicing isoforms for
MEGF6

Expression for MEGF6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MEGF6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MEGF6 Gene

This gene is overexpressed in Artery - Aorta (x6.0) and Artery - Coronary (x4.5).

Protein differential expression in normal tissues from HIPED for MEGF6 Gene

This gene is overexpressed in Gallbladder (32.4), Pancreas (22.4), and Fetal heart (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MEGF6 Gene



Protein tissue co-expression partners for MEGF6 Gene

NURSA nuclear receptor signaling pathways regulating expression of MEGF6 Gene:

MEGF6

SOURCE GeneReport for Unigene cluster for MEGF6 Gene:

Hs.593645

Evidence on tissue expression from TISSUES for MEGF6 Gene

  • Spleen(4.2)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with MEGF6: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MEGF6 Gene

Orthologs for MEGF6 Gene

This gene was present in the common ancestor of animals.

Orthologs for MEGF6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MEGF6 33
  • 97.71 (n)
cow
(Bos Taurus)
Mammalia MEGF6 33 34
  • 83.7 (n)
dog
(Canis familiaris)
Mammalia MEGF6 33 34
  • 83.39 (n)
mouse
(Mus musculus)
Mammalia Megf6 33 16 34
  • 75.17 (n)
rat
(Rattus norvegicus)
Mammalia Megf6 33
  • 74.88 (n)
oppossum
(Monodelphis domestica)
Mammalia MEGF6 34
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 37 (a)
ManyToMany
chicken
(Gallus gallus)
Aves MEGF6 33 34
  • 65.96 (n)
lizard
(Anolis carolinensis)
Reptilia MEGF6 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia megf6 33
  • 59.54 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC557764 33
  • 58.73 (n)
megf6a 34
  • 55 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13668 33
worm
(Caenorhabditis elegans)
Secernentea CELE_Y64G10A.7 33
  • 47.5 (n)
Y64G10A.7 34
  • 38 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
OneToOne
Species where no ortholog for MEGF6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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)

Evolution for MEGF6 Gene

ENSEMBL:
Gene Tree for MEGF6 (if available)
TreeFam:
Gene Tree for MEGF6 (if available)

Paralogs for MEGF6 Gene

Paralogs for MEGF6 Gene

(11) SIMAP similar genes for MEGF6 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for MEGF6 Gene

genes like me logo Genes that share paralogs with MEGF6: view

Variants for MEGF6 Gene

Sequence variations from dbSNP and Humsavar for MEGF6 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000004876 -- 3,503,696(-) TGTATGTGTGTATGTGTGT/TGTATGTGTGT intron_variant
rs1000011796 -- 3,584,688(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000065158 -- 3,524,431(-) T/C intron_variant
rs1000080764 -- 3,487,938(-) A/G downstream_transcript_variant
rs1000112118 -- 3,590,839(-) A/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MEGF6 Gene

Variant ID Type Subtype PubMed ID
nsv951959 CNV deletion 24416366
nsv830203 CNV loss 17160897
nsv825253 CNV loss 20364138
nsv818444 CNV loss 17921354
nsv818333 CNV loss 17921354
nsv545127 CNV loss 21841781
nsv545126 CNV loss 21841781
nsv545125 CNV loss 21841781
nsv545124 CNV loss 21841781
nsv519082 CNV gain 19592680
nsv474159 CNV novel sequence insertion 20440878
nsv470687 CNV loss 18288195
nsv299 CNV insertion 18451855
nsv160986 CNV deletion 16902084
nsv160621 CNV deletion 16902084
nsv160325 CNV insertion 16902084
nsv1153001 CNV insertion 26484159
nsv1146093 CNV insertion 26484159
nsv1142742 CNV deletion 24896259
nsv1142741 CNV deletion 24896259
nsv1140736 CNV deletion 24896259
nsv1140403 CNV tandem duplication 24896259
nsv1140107 CNV insertion 24896259
nsv1135753 CNV deletion 24896259
nsv1132824 CNV insertion 24896259
nsv1132823 CNV insertion 24896259
nsv1128585 CNV duplication 24896259
nsv1120184 CNV tandem duplication 24896259
nsv1075038 CNV deletion 25765185
nsv10494 CNV loss 18304495
nsv1012423 CNV gain 25217958
nsv1009360 CNV gain 25217958
nsv1004180 CNV gain 25217958
esv3893545 CNV loss 25118596
esv3585045 CNV gain 21293372
esv3585044 CNV gain 21293372
esv3585043 CNV loss 21293372
esv3585042 CNV gain 21293372
esv3563648 CNV deletion 23714750
esv3563537 CNV deletion 23714750
esv3417230 CNV duplication 20981092
esv3413189 CNV duplication 20981092
esv3352832 CNV duplication 20981092
esv28730 CNV loss 19812545
esv2862902 CNV duplication 24192839
esv2758915 CNV gain 17122850
esv2672292 CNV deletion 23128226
esv2470115 CNV loss 19546169
esv1645766 CNV deletion 17803354
esv1595391 CNV insertion 17803354
esv1491138 CNV insertion 17803354
esv1072885 CNV insertion 17803354
esv1062679 CNV deletion 17803354
esv1003247 CNV insertion 20482838
dgv7n67 CNV gain 20364138
dgv26e59 CNV duplication 20981092

Variation tolerance for MEGF6 Gene

Residual Variation Intolerance Score: 99.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.40; 98.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MEGF6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MEGF6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MEGF6 Gene

Disorders for MEGF6 Gene

Additional Disease Information for MEGF6

No disorders were found for MEGF6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MEGF6 Gene

Publications for MEGF6 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. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  3. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PMID: 12168954) Nakajima D … Nagase T (DNA research : an international journal for rapid publication of reports on genes and genomes 2002) 3 4 58
  4. Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. (PMID: 21078624) Kahle JJ … Zoghbi HY (Human molecular genetics 2011) 3 58
  5. Regulation of epidermal growth factor receptor trafficking by lysine deacetylase HDAC6. (PMID: 20029029) Deribe YL … Dikic I (Science signaling 2009) 3 58

Products for MEGF6 Gene

Sources for MEGF6 Gene

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