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    MEGF6 multiple EGF like domains 6 [ Homo sapiens (human) ]

    Gene ID: 1953, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MEGF6provided by HGNC
    Official Full Name
    multiple EGF like domains 6provided by HGNC
    Primary source
    HGNC:HGNC:3232
    See related
    Ensembl:ENSG00000162591 MIM:604266; AllianceGenome:HGNC:3232
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EGFL3
    Summary
    Predicted to enable calcium ion binding activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in skin (RPKM 15.1), lung (RPKM 6.0) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MEGF6 in Genome Data Viewer
    Location:
    1p36.32
    Exon count:
    42
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (3487951..3624786, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (2994964..3134506, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (3404515..3528072, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene PR/SET domain 16 Neighboring gene uncharacterized LOC105378604 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:3229262-3230461 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:3231799-3232358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3235695-3236196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3236197-3236696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3237397-3238015 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3246879-3247556 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3255514-3256329 Neighboring gene VISTA enhancer hs1912 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:3268668-3269642 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3269643-3270616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:3272921-3273812 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:3273813-3274702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3277409-3277908 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:3285513-3286094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3303704-3304204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3304205-3304705 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3307961-3308462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3311898-3312581 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3312582-3313264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3320127-3320627 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:3325025-3325602 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:3331680-3332376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:3332377-3333072 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3337228-3337728 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:3350015-3350524 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3357159-3357921 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:3369311-3370063 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3373825-3374576 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7120 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:3388131-3388756 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:3400495-3401329 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:3399659-3400494 Neighboring gene Rho guanine nucleotide exchange factor 16 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 119 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 120 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:3408184-3408709 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:3408710-3409234 Neighboring gene MEGF6 intron CAGE-defined mid-level expression enhancer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3439723-3440262 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3445841-3446528 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:3447217-3447902 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3449965-3450651 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:3459643-3460294 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:3460295-3460948 Neighboring gene MPRA-validated peak19 silencer Neighboring gene uncharacterized LOC105378608 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:3463961-3464599 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3493527-3494026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3506712-3507277 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3507278-3507842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3508323-3509002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3513146-3514042 Neighboring gene microRNA 551a Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:3529609-3530355 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:3530356-3531101 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3535070-3535978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 60 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 121 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:3541953-3542615 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:3557544-3558044 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:3558876-3559121 Neighboring gene tumor protein p63 regulated 1 like Neighboring gene WD repeat containing, antisense to TP73

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. MEGF6 Promotes the Epithelial-to-Mesenchymal Transition via the TGFβ/SMAD Signaling Pathway in Colorectal Cancer Metastasis. Hu H, et al. Cell Physiol Biochem, 2018. PMID 29719292
    2. A role for the MEGF6 gene in predisposition to osteoporosis. Teerlink CC, et al. Ann Hum Genet, 2021 Mar. PMID 33026655, Free PMC Article
    3. Microfibril-associated glycoprotein-2 interacts with fibrillin-1 and fibrillin-2 suggesting a role for MAGP-2 in elastic fiber assembly. Penner AS, et al. J Biol Chem, 2002 Sep 20. PMID 12122015
    4. Identification of high-molecular-weight proteins with multiple EGF-like motifs by motif-trap screening. Nakayama M, et al. Genomics, 1998 Jul 1. PMID 9693030
    5. Regulation of epidermal growth factor receptor trafficking by lysine deacetylase HDAC6. Deribe YL, et al. Sci Signal, 2009 Dec 22. PMID 20029029

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A role for the MEGF6 gene in predisposition to osteoporosis.
      Title: A role for the MEGF6 gene in predisposition to osteoporosis.
    2. MEGF6 accelerated Colorectal Cancer cell growth and inhibited apoptosis, and promoted Colorectal Cancer metastasis by inducing the Epithelial-to-Mesenchymal Transition.
      Title: MEGF6 Promotes the Epithelial-to-Mesenchymal Transition via the TGFβ/SMAD Signaling Pathway in Colorectal Cancer Metastasis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0815

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    multiple epidermal growth factor-like domains protein 6
    Names
    EGF-like protein 3
    EGF-like-domain, multiple 3
    epidermal growth factor-like protein 3
    multiple EGF-like domains protein 6

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001409.4 → NP_001400.3  multiple epidermal growth factor-like domains protein 6 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001400.3

      Status: VALIDATED

      Source sequence(s)
      AB011539, AB231860, AL512413, AL513320, BM984873, BU501408
      Consensus CDS
      CCDS41237.1
      UniProtKB/Swiss-Prot
      O75095, Q4AC86, Q5VV39
      Related
      ENSP00000348982.4, ENST00000356575.9
      Conserved Domains (3) summary
      pfam07546
      Location:46 → 114
      EMI; EMI domain
      pfam14670
      Location:335 → 370
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:153 → 199
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    2. NM_001410718.1 → NP_001397647.1  multiple epidermal growth factor-like domains protein 6 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AL512413, AL513320
      Consensus CDS
      CCDS90845.1
      UniProtKB/TrEMBL
      A0A8V8TL19
      Related
      ENSP00000513108.1, ENST00000697102.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      3487951..3624786 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017000533.3 → XP_016856022.1  multiple epidermal growth factor-like domains protein 6 isoform X2

    2. XM_011540886.3 → XP_011539188.1  multiple epidermal growth factor-like domains protein 6 isoform X1

      Conserved Domains (3) summary
      pfam07546
      Location:108 → 176
      EMI; EMI domain
      pfam14670
      Location:397 → 432
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:215 → 261
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    3. XM_047448229.1 → XP_047304185.1  multiple epidermal growth factor-like domains protein 6 isoform X10

    4. XM_047448217.1 → XP_047304173.1  multiple epidermal growth factor-like domains protein 6 isoform X6

    5. XM_047448220.1 → XP_047304176.1  multiple epidermal growth factor-like domains protein 6 isoform X7

    6. XM_047448204.1 → XP_047304160.1  multiple epidermal growth factor-like domains protein 6 isoform X3

    7. XM_047448232.1 → XP_047304188.1  multiple epidermal growth factor-like domains protein 6 isoform X11

    8. XM_047448228.1 → XP_047304184.1  multiple epidermal growth factor-like domains protein 6 isoform X9

    9. XM_047448221.1 → XP_047304177.1  multiple epidermal growth factor-like domains protein 6 isoform X8

    10. XM_047448205.1 → XP_047304161.1  multiple epidermal growth factor-like domains protein 6 isoform X4

    11. XM_047448215.1 → XP_047304171.1  multiple epidermal growth factor-like domains protein 6 isoform X5

    12. XM_047448251.1 → XP_047304207.1  multiple epidermal growth factor-like domains protein 6 isoform X19

    13. XM_047448242.1 → XP_047304198.1  multiple epidermal growth factor-like domains protein 6 isoform X16

    14. XM_011540887.3 → XP_011539189.1  multiple epidermal growth factor-like domains protein 6 isoform X12

      Conserved Domains (2) summary
      pfam14670
      Location:189 → 224
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:134 → 176
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    15. XM_047448255.1 → XP_047304211.1  multiple epidermal growth factor-like domains protein 6 isoform X20

    16. XM_047448245.1 → XP_047304201.1  multiple epidermal growth factor-like domains protein 6 isoform X17

      Related
      ENSP00000294599.4, ENST00000294599.8

    17. XM_047448238.1 → XP_047304194.1  multiple epidermal growth factor-like domains protein 6 isoform X13

    18. XM_047448247.1 → XP_047304203.1  multiple epidermal growth factor-like domains protein 6 isoform X18

    19. XM_047448239.1 → XP_047304195.1  multiple epidermal growth factor-like domains protein 6 isoform X14

    20. XM_047448256.1 → XP_047304212.1  multiple epidermal growth factor-like domains protein 6 isoform X21

    21. XM_011540888.4 → XP_011539190.1  multiple epidermal growth factor-like domains protein 6 isoform X15

      Conserved Domains (3) summary
      pfam07546
      Location:108 → 176
      EMI; EMI domain
      pfam14670
      Location:397 → 432
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:215 → 261
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      2994964..3134506 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334838.1 → XP_054190813.1  multiple epidermal growth factor-like domains protein 6 isoform X2

    2. XM_054334837.1 → XP_054190812.1  multiple epidermal growth factor-like domains protein 6 isoform X1

    3. XM_054334846.1 → XP_054190821.1  multiple epidermal growth factor-like domains protein 6 isoform X10

    4. XM_054334842.1 → XP_054190817.1  multiple epidermal growth factor-like domains protein 6 isoform X6

    5. XM_054334843.1 → XP_054190818.1  multiple epidermal growth factor-like domains protein 6 isoform X7

    6. XM_054334839.1 → XP_054190814.1  multiple epidermal growth factor-like domains protein 6 isoform X3

    7. XM_054334847.1 → XP_054190822.1  multiple epidermal growth factor-like domains protein 6 isoform X11

    8. XM_054334845.1 → XP_054190820.1  multiple epidermal growth factor-like domains protein 6 isoform X9

    9. XM_054334844.1 → XP_054190819.1  multiple epidermal growth factor-like domains protein 6 isoform X8

    10. XM_054334840.1 → XP_054190815.1  multiple epidermal growth factor-like domains protein 6 isoform X4

    11. XM_054334841.1 → XP_054190816.1  multiple epidermal growth factor-like domains protein 6 isoform X5

    12. XM_054334850.1 → XP_054190825.1  multiple epidermal growth factor-like domains protein 6 isoform X14

    13. XM_054334855.1 → XP_054190830.1  multiple epidermal growth factor-like domains protein 6 isoform X19

    14. XM_054334852.1 → XP_054190827.1  multiple epidermal growth factor-like domains protein 6 isoform X16

    15. XM_054334848.1 → XP_054190823.1  multiple epidermal growth factor-like domains protein 6 isoform X12

    16. XM_054334856.1 → XP_054190831.1  multiple epidermal growth factor-like domains protein 6 isoform X20

    17. XM_054334853.1 → XP_054190828.1  multiple epidermal growth factor-like domains protein 6 isoform X17

    18. XM_054334849.1 → XP_054190824.1  multiple epidermal growth factor-like domains protein 6 isoform X13

    19. XM_054334854.1 → XP_054190829.1  multiple epidermal growth factor-like domains protein 6 isoform X18

    20. XM_054334857.1 → XP_054190832.1  multiple epidermal growth factor-like domains protein 6 isoform X21

    21. XM_054334851.1 → XP_054190826.1  multiple epidermal growth factor-like domains protein 6 isoform X15

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75095.4 GenPept UniProtKB/Swiss-Prot:O75095

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