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

Summary

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

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_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
Evaluation of the prognostic potential of EGFL7 in pilocytic astrocytomas.
Title: Evaluation of the prognostic potential of EGFL7 in pilocytic astrocytomas.
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.
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)

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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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 more info	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)

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
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

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
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
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

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

136658856..136672678

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
XM_017014795.1 → XP_016870284.1 epidermal growth factor-like protein 7 isoform X2
XM_047423453.1 → XP_047279409.1 epidermal growth factor-like protein 7 isoform X6
XM_017014796.1 → XP_016870285.1 epidermal growth factor-like protein 7 isoform X3
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
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
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
XM_047423452.1 → XP_047279408.1 epidermal growth factor-like protein 7 isoform X4
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

NC_060933.1 Alternate T2T-CHM13v2.0

Range

148891837..148905658

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054363071.1 → XP_054219046.1 epidermal growth factor-like protein 7 isoform X5
XM_054363070.1 → XP_054219045.1 epidermal growth factor-like protein 7 isoform X5
XM_054363066.1 → XP_054219041.1 epidermal growth factor-like protein 7 isoform X2
XM_054363074.1 → XP_054219049.1 epidermal growth factor-like protein 7 isoform X6
XM_054363067.1 → XP_054219042.1 epidermal growth factor-like protein 7 isoform X3
XM_054363072.1 → XP_054219047.1 epidermal growth factor-like protein 7 isoform X5
XM_054363073.1 → XP_054219048.1 epidermal growth factor-like protein 7 isoform X5
XM_054363065.1 → XP_054219040.1 epidermal growth factor-like protein 7 isoform X1

UniProtKB/Swiss-Prot

B3KRP0, M9VTX9, Q5M7Y5, Q5VUD5, Q96EG0, Q9UHF1
XM_054363068.1 → XP_054219043.1 epidermal growth factor-like protein 7 isoform X4
XM_054363069.1 → XP_054219044.1 epidermal growth factor-like protein 7 isoform X4