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MEGF8 Gene

protein-coding   GIFtS: 51
GCID: GC19P042829

Multiple EGF-Like-Domains 8

(Previous names: EGF-like-domain, multiple 4, chromosome 19 open reading...)
(Previous symbols: EGFL4, C19orf49)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Multiple EGF-Like-Domains 81 2     SBP12
EGFL41 2 3 5     EGF-Like Domain-Containing Protein 42
C19orf491 2 3     HBV Pre-S2 Binding Protein 12
EGF-Like-Domain, Multiple 41 2     Multiple Epidermal Growth Factor-Like Domains Protein 82
Epidermal Growth Factor-Like Protein 42 3     KIAA08173
CRPT22 5     EGF-Like Protein 43
Chromosome 19 Open Reading Frame 491     Multiple EGF-Like Domains Protein 83
HBV Pre S2 Binding Protein 11     

External Ids:    HGNC: 32331   Entrez Gene: 19542   Ensembl: ENSG000001054297   OMIM: 6042675   UniProtKB: Q7Z7M03   

Export aliases for MEGF8 gene to outside databases

Previous GC identifers: GC19P047521 GC19P039259


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 structural molecule activity and calcium ion binding. An important paralog of this gene is ATRNL1.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the MEGF8 gene promoter:
         Bach1   STAT1   NF-1   Elk-1   AP-2gamma   STAT1alpha   HSF2   AP-2beta   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMEGF8 promoter sequence
   Search Chromatin IP Primers for MEGF8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MEGF8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q12   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.2

MEGF8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MEGF8 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P042829:  view genomic region     (about GC identifiers)

Start:
42,829,761 bp from pter      End:
42,882,921 bp from pter
Size:
53,161 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MEGF8_HUMAN, Q7Z7M0 (See protein sequence)
Recommended Name: Multiple epidermal growth factor-like domains protein 8 precursor  
Size: 2845 amino acids; 303100 Da
Sequence caution: Sequence=AAP35084.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAA32469.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A8KAY0 O75097
Alternative splicing: 2 isoforms:  Q7Z7M0-1   Q7Z7M0-2   

Explore the universe of human proteins at neXtProt for MEGF8: NX_Q7Z7M0

Explore proteomics data for MEGF8 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn50, Asn217, Asn1048, Asn1115, Asn1271, Asn2066, Asn2229
  • Modification sites at PhosphoSitePlus

  • See MEGF8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001258867.1  NP_001401.2  

    ENSEMBL proteins: 
     ENSP00000334219   ENSP00000251268   ENSP00000471370   ENSP00000470620   ENSP00000367313  

    MEGF8 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MEGF8

    MEGF8 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals MEGF8 Antibodies
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    MEGF8 Assay Products:

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    Cloud-Clone Corp. CLIAs for MEGF8


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 10):
     IPR002165 Plexin_repeat
     IPR000742 EG-like_dom
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS
     IPR002049 EGF_laminin

    Graphical View of Domain Structure for InterPro Entry Q7Z7M0

    ProtoNet protein and cluster: Q7Z7M0

    3 Blocks protein domains:
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB000859 CUB domain
    IPB002049 Laminin-type EGF-like domain


    UniProtKB/Swiss-Prot: MEGF8_HUMAN, Q7Z7M0
    Similarity: Contains 2 CUB domains
    Similarity: Contains 5 EGF-like domains
    Similarity: Contains 12 Kelch repeats
    Similarity: Contains 4 laminin EGF-like domains
    Similarity: Contains 7 PSI domains


    MEGF8 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity IEA--
    GO:0005198structural molecule activity ----
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI--
         
    MEGF8 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MEGF8:
     Decreased Wnt reporter activit 

         14 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Megf8):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     growth/size/body  hematopoietic system  immune system  limbs/digits/tail  liver/biliary system 
     muscle  nervous system  renal/urinary system  respiratory system 

    MEGF8 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MEGF8
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MEGF8
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MEGF8

    miRNA
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    miRTarBase miRNAs that target MEGF8:
    hsa-mir-193b-3p (MIRT041496), hsa-mir-484 (MIRT042296), hsa-mir-26b-5p (MIRT029661), hsa-mir-16-5p (MIRT051194), hsa-mir-615-3p (MIRT040080)

    Block miRNA regulation of human, mouse, rat MEGF8 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MEGF8 (see all 19):
    hsa-miR-146b-3p hsa-miR-125a-5p hsa-miR-4251 hsa-miR-219-5p hsa-miR-125b hsa-miR-580 hsa-miR-3153 hsa-miR-515-3p
    SwitchGear 3'UTR luciferase reporter plasmidMEGF8 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for MEGF8
    Predesigned siRNA for gene silencing in human, mouse, rat MEGF8

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for MEGF8 (see all 5)
    OriGene ORF clones in mouse, rat for MEGF8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MEGF8 (NM_001410)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MEGF8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MEGF8

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for MEGF8 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MEGF8


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MEGF8_HUMAN, Q7Z7M0: Membrane; Single-pass type I membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    extracellular2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005634nucleus ISS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    MEGF8 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MEGF8
    Interactions:

        Search GeneGlobe Interaction Network for MEGF8

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    Selected Interacting proteins for MEGF8 (Q7Z7M01, 2, 3 ENSP000003342194) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GFI1BQ5VTD92, 3, ENSP000003447824MINT-2858454 I2D: score=3 STRING: ENSP00000344782
    ATXN7O152651, 3EBI-947617,EBI-708350 I2D: score=1 
    CACNA1AO005551, 3EBI-947617,EBI-766279 I2D: score=1 
    ENSG00000204490P013753I2D: score=1 
    ENSG00000206439P013753I2D: score=1 
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    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003143embryonic heart tube morphogenesis ISS--
    GO:0007275multicellular organismal development ----
    GO:0008150biological_process ----
    GO:0010468regulation of gene expression ISS--
    GO:0030326embryonic limb morphogenesis ISS--

    MEGF8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MEGF8



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MEGF8 gene (3 alternative transcripts): 
    NM_001271938.1  NM_001410.2  NM_178121.2  

    Unigene Cluster for MEGF8:

    Multiple EGF-like-domains 8
    Hs.132483  [show with all ESTs]
    Unigene Representative Sequence: NM_001271938
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000334370(uc002otl.4 uc002otm.4 uc002otn.4) ENST00000251268
    ENST00000593840 ENST00000598762 ENST00000593647 ENST00000599787 ENST00000378073

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MEGF8 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MEGF8 (see all 19):
    hsa-miR-146b-3p hsa-miR-125a-5p hsa-miR-4251 hsa-miR-219-5p hsa-miR-125b hsa-miR-580 hsa-miR-3153 hsa-miR-515-3p
    SwitchGear 3'UTR luciferase reporter plasmidMEGF8 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MEGF8
    Predesigned siRNA for gene silencing in human, mouse, rat MEGF8
    Clone
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    OriGene clones in human, mouse for MEGF8 (see all 5)
    OriGene ORF clones in mouse, rat for MEGF8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MEGF8 (NM_001410)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MEGF8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MEGF8
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for MEGF8
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MEGF8
      QuantiTect SYBR Green Assays in human, mouse, rat MEGF8
      QuantiFast Probe-based Assays in human, mouse, rat MEGF8

    Additional mRNA sequence: 

    AB011541.2 AF497566.1 AK026018.1 AY280362.1 BC033228.1 BC093649.1 BC111942.1 BC153880.1 

    7 DOTS entries:

    DT.408972  DT.205275  DT.99980582  DT.99982925  DT.100652341  DT.91710985  DT.92421872 

    Selected AceView cDNA sequences (see all 133):

    BM705530 NM_178121 AF497566 BF941059 AI536592 BG760846 AK026018 CD514271 
    AV751780 BQ060741 BC033228 BQ929439 AI378645 AY280362 AI291205 CB163431 
    BQ054453 BQ061459 CB122799 BQ059804 BU554097 AA311518 AI452819 BG106784 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for MEGF8    About this scheme

    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:                                                                                                  -               


    ECgene alternative splicing isoforms for MEGF8

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MEGF8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAGAGGTGG
    MEGF8 Expression
    About this image

    MEGF8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MEGF8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.132483
        Custom PCR Arrays for MEGF8
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MEGF8

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for MEGF8 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Megf81 , 5 multiple EGF-like-domains 81, 5 87.88(n)1
    95.52(a)1
      7 (13.75 cM)5
    2698781  NM_001160400.11  NP_001153872.11 
     253171645 
    lizard
    (Anolis carolinensis)
    Reptilia MEGF86
    multiple EGF-like-domains 8
    66(a)
    1 ↔ 1
    GL344259.1(29549-37528)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.152382 Xenopus laevis transcribed sequence with weak similarity more 76.64(n)    BI443358.1 
    zebrafish
    (Danio rerio)
    Actinopterygii megf81 multiple EGF-like-domains 8 60.15(n)
    58.81(a)
      791154  XM_005158031.1  XP_005158088.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG74661 CG7466 47.63(n)
    37.91(a)
      34099  NM_135336.3  NP_609180.2 


    ENSEMBL Gene Tree for MEGF8 (if available)
    TreeFam Gene Tree for MEGF8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MEGF8 gene
    ATRNL12  ATRN2  

    MEGF8 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MEGF8 (see all 1304)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0693064
    Carpenter syndrome 2 (CRPT2)4--see VAR_0693062 R H mis40--------
    VAR_0693054
    Carpenter syndrome 2 (CRPT2)4--see VAR_0693052 G R mis40--------
    VAR_0693074
    Carpenter syndrome 2 (CRPT2)4--see VAR_0693072 S G mis40--------
    rs2012323451,2
    --39297297(+) GGCTTA/GCGATC 2 -- int10--------
    rs1118420001,2
    C,F--42841963(+) TCTTTC/TCTTTT 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs564093691,2
    C--42843119(+) TAGATA/-GGATT 2 -- int12Minor allele frequency- -:0.25NA CSA 4
    rs1125079821,2
    F--42845004(+) TGGTAC/GAGTTG 2 -- int11Minor allele frequency- G:0.00CSA 1
    rs664953491,2
    C--42859408(+) CCGGC-/ATATATA 2 -- int10--------
    rs756892351,2
    C--42863558(+) CTTCC-/TTTTTT 2 -- int11Minor allele frequency- T:0.00CSA 2
    rs799152951,2
    C--42872560(+) TATTTC/-CCCAT 2 -- int11Minor allele frequency- -:0.50CSA 2

    HapMap Linkage Disequilibrium report for MEGF8 (42829761 - 42882921 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for MEGF8:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422471CNV Deletion17116639
    nsv520239CNV Loss19592680
    nsv911782CNV Loss21882294
    nsv833834CNV Loss17160897
    nsv911785CNV Loss21882294
    nsv522854CNV Gain19592680
    nsv526186CNV Gain19592680

    Human Gene Mutation Database (HGMD): MEGF8
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MEGF8
    DNA2.0 Custom Variant and Variant Library Synthesis for MEGF8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 604267   
    OMIM disorders: 614976  
    UniProtKB/Swiss-Prot: MEGF8_HUMAN, Q7Z7M0
  • 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. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 12 diseases for MEGF8:    About MalaCards
    carpenter syndrome 2    carpenter syndrome    dextrocardia    situs inversus
    intrahepatic cholangiocarcinoma    cholangiocarcinoma    ataxia    hepatitis b
    hepatitis    multiple myeloma    myeloma    malaria

    2 diseases from the University of Copenhagen DISEASES database for MEGF8:
    Dextrocardia     Situs inversus

    MEGF8 for disorders           About GeneDecksing


    Export disorders for MEGF8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MEGF8 gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with MEGF8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of high-molecular-weight proteins with multiple EGF- like motifs by motif-trap screening. (PubMed id 9693030)1, 2, 3 Nakayama M.... Ohara O. (Genomics 1998)
    2. Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. (PubMed id 23063620)1, 2 Twigg S.R.... Wilkie A.O. (Am. J. Hum. Genet. 2012)
    3. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (J. Proteome Res. 2005)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    6. Proteomic identification of common SCF ubiquitin ligase FBXO6-interacting glycoproteins in three kinds of cells. (PubMed id 22268729)1 Liu B....Wang L.S. (J. Proteome Res. 2012)
    7. Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. (PubMed id 21078624)1 Kahle J.J....Zoghbi H.Y. (Hum. Mol. Genet. 2011)
    8. Large-scale proteomics and phosphoproteomics of urinary exosomes. (PubMed id 19056867)1 Gonzales P.A....Knepper M.A. (J. Am. Soc. Nephrol. 2009)
    9. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PubMed id 16712791)1 Wang A.G....Kim N.S. (Biochem. Biophys. Res. Commun. 2006)
    10. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1 Lim J.... Zoghbi H.Y. (Cell 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1954 HGNC: 3233 AceView: EGFL4andSBP1 Ensembl:ENSG00000105429 euGenes: HUgn1954
    ECgene: MEGF8 H-InvDB: MEGF8

    (According to HUGE)
    About This Section

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    HUGE: KIAA0817

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MEGF8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for MEGF8 gene:
    Search GeneIP for patents involving MEGF8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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