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    EGFL7 EGF like domain multiple 7 [ Homo sapiens (human) ]

    Gene ID: 51162, updated on 28-Oct-2024

    Summary

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    Official Symbol
    EGFL7provided by HGNC
    Official Full Name
    EGF like domain multiple 7provided by HGNC
    Primary source
    HGNC:HGNC:20594
    See related
    Ensembl:ENSG00000172889 MIM:608582; AllianceGenome:HGNC:20594
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NEU1; ZNEU1; VE-STATIN
    Summary
    This gene encodes a secreted endothelial cell protein that contains two epidermal growth factor-like domains. The encoded protein may play a role in regulating vasculogenesis. This protein may be involved in the growth and proliferation of tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
    Expression
    Broad expression in placenta (RPKM 22.8), fat (RPKM 14.4) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EGFL7 in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (136658856..136672678)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (148891837..148905658)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139553308..139567130)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376325 Neighboring gene CRISPRi-validated cis-regulatory element chr9.4291 Neighboring gene uncharacterized LOC102724193 Neighboring gene lncRNA EGFL7 opposite strand Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139549554-139550178 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139563885-139564386 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139564387-139564886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139569227-139569726 Neighboring gene microRNA 126 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139573281-139573980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139573981-139574680 Neighboring gene 1-acylglycerol-3-phosphate O-acyltransferase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139576202-139577064 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139580514-139581375 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20537 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139591540-139592050 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139592051-139592559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139607687-139608611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29321 Neighboring gene cuticle collagen 2-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29322 Neighboring gene divergent protein kinase domain 1B Neighboring gene Sharpr-MPRA regulatory region 5701 Neighboring gene small nucleolar RNA host gene 7

    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 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. Epidermal growth factor-like domain 7 predicts response to first-line chemotherapy and bevacizumab in patients with metastatic colorectal cancer. Hansen TF, et al. Mol Cancer Ther, 2014 Sep. PMID 25140000
    2. Circulating mRNA for epidermal growth factor-like domain 7 (EGFL7) in maternal blood and early intrauterine growth restriction. A preliminary analysis. Zanello M, et al. Prenat Diagn, 2013 Feb. PMID 23280513
    3. Expression of Egfl7 correlates with low-grade invasive lesions in human breast cancer. Philippin-Lauridant G, et al. Int J Oncol, 2013 Apr. PMID 23404186
    4. The expression of Egfl7 in human normal tissues and epithelial tumors. Fan C, et al. Int J Biol Markers, 2013 Apr 23. PMID 23558933
    5. Decreased expression of the endothelial cell-derived factor EGFL7 in systemic sclerosis: potential contribution to impaired angiogenesis and vasculogenesis. Manetti M, et al. Arthritis Res Ther, 2013 Oct 25. PMID 24286167, Free PMC Article

    See all (106) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Low EGFL7 expression is associated with high lymph node spread and invasion of lymphatic vessels in colorectal cancer.
      Title: Low EGFL7 expression is associated with high lymph node spread and invasion of lymphatic vessels in colorectal cancer.
    2. Epidermal growth factor-like 7 is a novel therapeutic target in mantle cell lymphoma.
      Title: Epidermal growth factor-like 7 is a novel therapeutic target in mantle cell lymphoma.
    3. EGFL7 drives the evolution of resistance to EGFR inhibitors in lung cancer by activating NOTCH signaling.
      Title: EGFL7 drives the evolution of resistance to EGFR inhibitors in lung cancer by activating NOTCH signaling.
    4. Relation among EGFL7, ITGB3, and KLF2 and their clinical implication in multiple myeloma patients: a prospective study.
      Title: Relation among EGFL7, ITGB3, and KLF2 and their clinical implication in multiple myeloma patients: a prospective study.
    5. Impact of Activation of EGFL7 within Microenvironment of High Grade Ovarian Serous Carcinoma on Infiltration of CD4+ and CD8+ Lymphocytes.
      Title: Impact of Activation of EGFL7 within Microenvironment of High Grade Ovarian Serous Carcinoma on Infiltration of CD4+ and CD8+ Lymphocytes.
    6. EGF repeats of epidermal growth factorlike domain 7 promote endothelial cell activation and tumor escape from the immune system.
      Title: EGF repeats of epidermal growth factor‑like domain 7 promote endothelial cell activation and tumor escape from the immune system.
    7. Serum epidermal growth factor-like domain 7 serves as a novel diagnostic marker for early hepatocellular carcinoma.
      Title: Serum epidermal growth factor-like domain 7 serves as a novel diagnostic marker for early hepatocellular carcinoma.
    8. Evaluation of the prognostic potential of EGFL7 in pilocytic astrocytomas.
      Title: Evaluation of the prognostic potential of EGFL7 in pilocytic astrocytomas.
    9. An increase in elastogenic components in the placental villi of women with chronic venous disease during pregnancy is associated with decreased EGFL7 expression level.
      Title: An increase in elastogenic components in the placental villi of women with chronic venous disease during pregnancy is associated with decreased EGFL7 expression level.
    10. Proteomics identifies EGF-like domain multiple 7 as a potential therapeutic target for epidermal growth factor receptor-positive glioma.
      Title: Proteomics identifies EGF-like domain multiple 7 as a potential therapeutic target for epidermal growth factor receptor-positive glioma.
    Submit: New GeneRIF Correction See all GeneRIFs (71)

    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)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with EGFL7; predicted interaction to be relevant to viral egress at plasma membrane/extracellular matrix PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • MGC111117

    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 
    enables signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in blood vessel development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within negative regulation of Notch signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of endothelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in vasculogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vasculogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in collagen-containing extracellular matrix HDA PubMed 
    is_active_in extracellular region IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    epidermal growth factor-like protein 7
    Names
    EGF-like protein 7
    NOTCH4-like protein
    multiple EGF-like domains protein 7
    multiple epidermal growth factor-like domains protein 7
    vascular endothelial statin

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_016215.5 → NP_057299.1  epidermal growth factor-like protein 7 precursor

      See identical proteins and their annotated locations for NP_057299.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL512735, AL590226, AY358902, BI770335
      Consensus CDS
      CCDS7002.1
      UniProtKB/Swiss-Prot
      B3KRP0, M9VTX9, Q5M7Y5, Q5VUD5, Q96EG0, Q9UHF1
      Related
      ENSP00000307843.7, ENST00000308874.12
      Conserved Domains (3) summary
      cd00054
      Location:110 → 135
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07546
      Location:29 → 93
      EMI; EMI domain
      pfam14670
      Location:141 → 176
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    2. NM_201446.3 → NP_958854.1  epidermal growth factor-like protein 7 precursor

      See identical proteins and their annotated locations for NP_958854.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL512735, AL590226, BC012377, BM919940
      Consensus CDS
      CCDS7002.1
      UniProtKB/Swiss-Prot
      B3KRP0, M9VTX9, Q5M7Y5, Q5VUD5, Q96EG0, Q9UHF1
      Related
      ENSP00000360763.3, ENST00000371698.3
      Conserved Domains (3) summary
      cd00054
      Location:110 → 135
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07546
      Location:29 → 93
      EMI; EMI domain
      pfam14670
      Location:141 → 176
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    RNA

    1. NR_045110.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL590226, BC088371, BI770335

    2. NR_045111.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has an alternate 5' exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL512735, AL590226, AY358903, BI770335

    3. NR_046367.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF186111, AK091964, AL512735, AL590226, CB047042

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      136658856..136672678
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017014799.1 → XP_016870288.1  epidermal growth factor-like protein 7 isoform X5

      Conserved Domains (2) summary
      cd00054
      Location:52 → 77
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam14670
      Location:83 → 118
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    2. XM_017014798.1 → XP_016870287.1  epidermal growth factor-like protein 7 isoform X5

      Conserved Domains (2) summary
      cd00054
      Location:52 → 77
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam14670
      Location:83 → 118
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    3. XM_017014795.1 → XP_016870284.1  epidermal growth factor-like protein 7 isoform X2

    4. XM_047423453.1 → XP_047279409.1  epidermal growth factor-like protein 7 isoform X6

    5. XM_017014796.1 → XP_016870285.1  epidermal growth factor-like protein 7 isoform X3

    6. XM_011518767.1 → XP_011517069.1  epidermal growth factor-like protein 7 isoform X5

      See identical proteins and their annotated locations for XP_011517069.1

      Conserved Domains (2) summary
      cd00054
      Location:52 → 77
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam14670
      Location:83 → 118
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    7. XM_011518768.1 → XP_011517070.1  epidermal growth factor-like protein 7 isoform X5

      See identical proteins and their annotated locations for XP_011517070.1

      Conserved Domains (2) summary
      cd00054
      Location:52 → 77
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam14670
      Location:83 → 118
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    8. XM_047423451.1 → XP_047279407.1  epidermal growth factor-like protein 7 isoform X1

      UniProtKB/Swiss-Prot
      B3KRP0, M9VTX9, Q5M7Y5, Q5VUD5, Q96EG0, Q9UHF1
      Related
      ENSP00000385639.3, ENST00000406555.7

    9. XM_047423452.1 → XP_047279408.1  epidermal growth factor-like protein 7 isoform X4

    10. XM_006717141.4 → XP_006717204.1  epidermal growth factor-like protein 7 isoform X4

      Conserved Domains (2) summary
      cd00054
      Location:110 → 135
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07546
      Location:40 → 93
      EMI; EMI domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      148891837..148905658
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363071.1 → XP_054219046.1  epidermal growth factor-like protein 7 isoform X5

    2. XM_054363070.1 → XP_054219045.1  epidermal growth factor-like protein 7 isoform X5

    3. XM_054363066.1 → XP_054219041.1  epidermal growth factor-like protein 7 isoform X2

    4. XM_054363074.1 → XP_054219049.1  epidermal growth factor-like protein 7 isoform X6

    5. XM_054363067.1 → XP_054219042.1  epidermal growth factor-like protein 7 isoform X3

    6. XM_054363072.1 → XP_054219047.1  epidermal growth factor-like protein 7 isoform X5

    7. XM_054363073.1 → XP_054219048.1  epidermal growth factor-like protein 7 isoform X5

    8. XM_054363065.1 → XP_054219040.1  epidermal growth factor-like protein 7 isoform X1

      UniProtKB/Swiss-Prot
      B3KRP0, M9VTX9, Q5M7Y5, Q5VUD5, Q96EG0, Q9UHF1

    9. XM_054363068.1 → XP_054219043.1  epidermal growth factor-like protein 7 isoform X4

    10. XM_054363069.1 → XP_054219044.1  epidermal growth factor-like protein 7 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UHF1.3 GenPept UniProtKB/Swiss-Prot:Q9UHF1

    Gene LinkOut

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