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Aliases for MEGF9 Gene

Aliases for MEGF9 Gene

  • Multiple EGF Like Domains 9 2 3 5
  • Epidermal Growth Factor-Like Protein 5 3 4
  • EGF-Like-Domain, Multiple 5 2 3
  • EGFL5 3 4
  • Multiple Epidermal Growth Factor-Like Domains Protein 9 3
  • Multiple EGF-Like Domains Protein 9 4
  • Multiple EGF-Like-Domains 9 2
  • EGF-Like Protein 5 4
  • KIAA0818 4

External Ids for MEGF9 Gene

Previous HGNC Symbols for MEGF9 Gene

  • EGFL5

Previous GeneCards Identifiers for MEGF9 Gene

  • GC09M122402
  • GC09M123363
  • GC09M092980

Summaries for MEGF9 Gene

GeneCards Summary for MEGF9 Gene

MEGF9 (Multiple EGF Like Domains 9) is a Protein Coding gene. Diseases associated with MEGF9 include Smoldering Myeloma. An important paralog of this gene is USH2A.

Additional gene information for MEGF9 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 MEGF9 Gene

Genomics for MEGF9 Gene

GeneHancer (GH) Regulatory Elements for MEGF9 Gene

Promoters and enhancers for MEGF9 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
GH09I120709 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 555.4 +1.6 1597 6.9 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF143 MEGF9 CUTALP CNTRL PSMD5 FBXW2 PIR45570
GH09I120734 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.8 -21.1 -21114 2.4 ELF3 FOXA2 ARID4B DNMT3B RAD21 RARA ETS1 RFX5 YY1 RCOR1 CUTALP MEGF9 TRAF1 PSMD5 AHCYP2 PIR59216
GH09I120783 Enhancer 1.2 FANTOM5 Ensembl ENCODE 12.5 -69.4 -69410 1 ELF3 SOX13 MXI1 PKNOX1 FOXA2 MAX CEBPG RFX5 RCOR1 CREM MEGF9 TRAF1 FBXW2 PIR59216 AHCYP2
GH09I120474 Enhancer 0.9 FANTOM5 Ensembl ENCODE 14 +239.2 239196 1.8 ATF4 CEBPB ATF7 CEBPG MEGF9 FBXW2 PIR42824 GC09P120416 CDK5RAP2
GH09I120619 Enhancer 0.9 ENCODE dbSUPER 12 +94.5 94549 0.2 CTCF ZBTB40 RAD21 RFX5 CC2D1A ZNF316 SMC3 ZNF143 DEK GATAD2A MEGF9 CDK5RAP2 CUTALP PIR45570
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MEGF9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MEGF9 gene promoter:

Genomic Locations for MEGF9 Gene

Genomic Locations for MEGF9 Gene
chr9:120,600,813-120,714,487
(GRCh38/hg38)
Size:
113,675 bases
Orientation:
Minus strand
chr9:123,363,091-123,476,765
(GRCh37/hg19)

Genomic View for MEGF9 Gene

Genes around MEGF9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MEGF9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MEGF9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MEGF9 Gene

Proteins for MEGF9 Gene

  • Protein details for MEGF9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H1U4-MEGF9_HUMAN
    Recommended name:
    Multiple epidermal growth factor-like domains protein 9
    Protein Accession:
    Q9H1U4
    Secondary Accessions:
    • B7Z315
    • O75098

    Protein attributes for MEGF9 Gene

    Size:
    602 amino acids
    Molecular mass:
    62984 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ88736.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

neXtProt entry for MEGF9 Gene

Post-translational modifications for MEGF9 Gene

  • Glycosylation at posLast=4040, posLast=6464, isoforms=182, posLast=205205, isoforms=218, posLast=245245, isoforms=267, isoforms=305, isoforms=428, isoforms=468, posLast=481481, and posLast=500500

Other Protein References for MEGF9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MEGF9 Gene

Domains & Families for MEGF9 Gene

Gene Families for MEGF9 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for MEGF9 Gene

Suggested Antigen Peptide Sequences for MEGF9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MEGF9: view

No data available for UniProtKB/Swiss-Prot for MEGF9 Gene

Function for MEGF9 Gene

Phenotypes From GWAS Catalog for MEGF9 Gene

Phenotypes for MEGF9 Gene

GenomeRNAi human phenotypes for MEGF9:
genes like me logo Genes that share phenotypes with MEGF9: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MEGF9 Gene

Localization for MEGF9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MEGF9 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 MEGF9 gene
Compartment Confidence
extracellular 3
plasma membrane 2
nucleus 2
cytosol 2
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MEGF9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005604 basement membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MEGF9: view

Pathways & Interactions for MEGF9 Gene

SuperPathways for MEGF9 Gene

No Data Available

Interacting Proteins for MEGF9 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 22)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000363040%0d%0a9606.ENSP00000318635%0d%0a9606.ENSP00000291592%0d%0a9606.ENSP00000252999%0d%0a9606.ENSP00000400365%0d%0a9606.ENSP00000258341%0d%0a
Selected Interacting proteins: Q9H1U4-MEGF9_HUMAN ENSP00000363040 for MEGF9 Gene via IID STRING

Gene Ontology (GO) - Biological Process for MEGF9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with MEGF9: view

No data available for Pathways by source and SIGNOR curated interactions for MEGF9 Gene

Drugs & Compounds for MEGF9 Gene

No Compound Related Data Available

Transcripts for MEGF9 Gene

mRNA/cDNA for MEGF9 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(165) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MEGF9 Gene

Multiple EGF-like-domains 9:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MEGF9 Gene

No ASD Table

Relevant External Links for MEGF9 Gene

GeneLoc Exon Structure for
MEGF9
ECgene alternative splicing isoforms for
MEGF9

Expression for MEGF9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MEGF9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MEGF9 Gene

This gene is overexpressed in Whole Blood (x8.4).

Protein differential expression in normal tissues from HIPED for MEGF9 Gene

This gene is overexpressed in Serum (28.3), Adrenal (22.1), and Monocytes (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MEGF9 Gene



NURSA nuclear receptor signaling pathways regulating expression of MEGF9 Gene:

MEGF9

SOURCE GeneReport for Unigene cluster for MEGF9 Gene:

Hs.744903

Evidence on tissue expression from TISSUES for MEGF9 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with MEGF9: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MEGF9 Gene

Orthologs for MEGF9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MEGF9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MEGF9 33 34
  • 99.11 (n)
dog
(Canis familiaris)
Mammalia MEGF9 33
  • 90.63 (n)
cow
(Bos Taurus)
Mammalia MEGF9 33 34
  • 88.03 (n)
mouse
(Mus musculus)
Mammalia Megf9 33 16 34
  • 84.87 (n)
rat
(Rattus norvegicus)
Mammalia Megf9 33
  • 84.76 (n)
oppossum
(Monodelphis domestica)
Mammalia MEGF9 34
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MEGF9 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves MEGF9 34
  • 70 (a)
OneToOne
LOC100858115 33
  • 67.77 (n)
lizard
(Anolis carolinensis)
Reptilia MEGF9 34
  • 51 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC560805 33
  • 58.4 (n)
MEGF9 34
  • 39 (a)
OneToOne
Species where no ortholog for MEGF9 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MEGF9 Gene

ENSEMBL:
Gene Tree for MEGF9 (if available)
TreeFam:
Gene Tree for MEGF9 (if available)

Paralogs for MEGF9 Gene

Paralogs for MEGF9 Gene

(2) SIMAP similar genes for MEGF9 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MEGF9: view

Variants for MEGF9 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for MEGF9 Gene

MEGF9_HUMAN-Q9H1U4
The poly-Ala stretch (positions 24 to 31) may be polymorphic and varies from 6 to 8 Ala residues.

Sequence variations from dbSNP and Humsavar for MEGF9 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000093419 -- 120,629,607(-) C/A intron_variant
rs1000098140 -- 120,650,545(-) A/G intron_variant
rs1000112513 -- 120,627,938(-) T/C intron_variant
rs1000147236 -- 120,624,668(-) A/T intron_variant
rs1000177129 -- 120,647,609(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MEGF9 Gene

Variant ID Type Subtype PubMed ID
nsv950934 CNV duplication 24416366
nsv831711 CNV gain 17160897
nsv7434 OTHER inversion 18451855
nsv526071 CNV loss 19592680
nsv1151199 CNV insertion 26484159
nsv1045180 CNV loss 25217958
esv3621655 CNV loss 21293372
esv3349976 CNV insertion 20981092
esv33143 CNV loss 17666407
esv2294531 CNV deletion 18987734

Variation tolerance for MEGF9 Gene

Residual Variation Intolerance Score: 54.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.38; 42.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MEGF9 Gene

Human Gene Mutation Database (HGMD)
MEGF9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MEGF9

Disorders for MEGF9 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MEGF9 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
smoldering myeloma
- elite association - COSMIC cancer census association via MalaCards
Search MEGF9 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MEGF9

genes like me logo Genes that share disorders with MEGF9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MEGF9 Gene

Publications for MEGF9 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. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 58
  4. miR-125b acts as a tumor suppressor in breast tumorigenesis via its novel direct targets ENPEP, CK2-α, CCNJ, and MEGF9. (PMID: 24098452) Feliciano A … Lleonart ME (PloS one 2013) 3 58
  5. Genome-wide association of lipid-lowering response to statins in combined study populations. (PMID: 20339536) Barber MJ … Krauss RM (PloS one 2010) 3 58

Products for MEGF9 Gene

Sources for MEGF9 Gene

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