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

Gene ID: 51162, updated on 5-Mar-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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Location:
9q34.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (136658856..136672678)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (148891837..148905658)
105.20220307 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 uncharacterized LOC101928612 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
  • 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 7 is a novel therapeutic target in mantle cell lymphoma. Goda C, et al. Exp Hematol, 2023 Jul. PMID 37209901
  2. EGFL7 drives the evolution of resistance to EGFR inhibitors in lung cancer by activating NOTCH signaling. Wang Y, et al. Cell Death Dis, 2022 Oct 29. PMID 36309484, Free PMC Article
  3. Impact of Activation of EGFL7 within Microenvironment of High Grade Ovarian Serous Carcinoma on Infiltration of CD4+ and CD8+ Lymphocytes. Sznurkowski JJ, et al. Medicina (Kaunas), 2022 Apr 24. PMID 35630004, Free PMC Article
  4. Serum epidermal growth factor-like domain 7 serves as a novel diagnostic marker for early hepatocellular carcinoma. Yang MY, et al. BMC Cancer, 2021 Jul 3. PMID 34217251, Free PMC Article
  5. An increase in elastogenic components in the placental villi of women with chronic venous disease during pregnancy is associated with decreased EGFL7 expression level. Ortega MA, et al. Mol Med Rep, 2021 Aug. PMID 34080027, Free PMC Article

See all (104) 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 anatomical structure development IBA
Inferred from Biological aspect of Ancestor
more info
  
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 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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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_2023_10

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

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