EGFL8 EGF like domain multiple 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EGFL8provided by HGNC
Official Full Name: EGF like domain multiple 8provided by HGNC
Primary source: HGNC:HGNC:13944
See related: Ensembl:ENSG00000241404 MIM:609897; AllianceGenome:HGNC:13944
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: NG3; C6orf8
Summary: Predicted to enable signaling receptor binding activity. Predicted to be active in cell surface and extracellular region. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in ovary (RPKM 13.7), skin (RPKM 12.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.32

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (32164595..32168281)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (32017785..32021472)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (32132372..32136058)

Chromosome 6 - NC_000006.12 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 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?

Whole-exome sequencing reveals a role of HTRA1 and EGFL8 in brain white matter hyperintensities.
Title: Whole-exome sequencing reveals a role of HTRA1 and EGFL8 in brain white matter hyperintensities.
Down-regulation of EGFL8 regulates migration, invasion and apoptosis of hepatocellular carcinoma through activating Notch signaling pathway.
Title: Down-regulation of EGFL8 regulates migration, invasion and apoptosis of hepatocellular carcinoma through activating Notch signaling pathway.
Schwann cell plasticity regulates neuroblastic tumor cell differentiation via epidermal growth factor-like protein 8.
Title: Schwann cell plasticity regulates neuroblastic tumor cell differentiation via epidermal growth factor-like protein 8.
The down-regulation of EGFL8 might be a novel biomarker for advanced gastric cancer.
Title: Down-regulation of EGFL8: a novel biomarker for advanced gastric cancer.
Reduced expression of EGFL8 is closely related to metastastic potential and poor prognosis of CRC, suggesting the down-regulation of EGFL8 as a novel prognostic biomarker for CRC patients.
Title: Down-regulation of EGFL8: a novel prognostic biomarker for patients with colorectal cancer.
Observational study of gene-disease association. (HuGE Navigator)
Title: Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu EBI GWAS Catalog EBI GWAS CatalogPubMed
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D8S2279 (e-PCR)
- UniSTS:473907

D6S1412 (e-PCR)
- UniSTS:37704

WI-11350 (e-PCR)
- UniSTS:81750

D15S1477 (e-PCR)
- UniSTS:474482

RH91426 (e-PCR)
- UniSTS:83571

D6S1154E (e-PCR)
- UniSTS:29826

RH124332 (e-PCR)
- UniSTS:161154

D11S3114 (e-PCR)
- UniSTS:152207

Readthrough PPT2-EGFL8

Readthrough gene: PPT2-EGFL8, Included gene: PPT2

Clone Names

FLJ44493, FLJ52513, FLJ75166, FLJ78536, FLJ97375, MGC44938, MGC59719

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
NOT involved_in in utero embryonic development	ISS Inferred from Sequence or Structural Similarity more info
involved_in vasculogenesis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extracellular region	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: epidermal growth factor-like protein 8

Names: EGF-like protein 8; VE-statin-2; vascular endothelial statin-2

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_030652.4 → NP_085155.1 epidermal growth factor-like protein 8 precursor

See identical proteins and their annotated locations for NP_085155.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shorter transcript but encodes the supported protein.

Source sequence(s)

AB190520, AL662884, BC035574, BC052591

Consensus CDS

CCDS4743.1

UniProtKB/Swiss-Prot

B0S884, G5E9Q0, Q5JP23, Q5SSX3, Q8IV30, Q99944

UniProtKB/TrEMBL

A0A1U9X7N3, A0A1U9X7N9

Related

ENSP00000333380.6, ENST00000333845.11

Conserved Domains (3) summary

pfam07546
Location:37 → 101

EMI; EMI domain

pfam14670
Location:155 → 183

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:119 → 182

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 ...

RNA

NR_037860.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate first 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 downstream ORF, as found in variant 1.

Source sequence(s)

AL662884, BC052591