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

Gene ID: 80864, updated on 1-Jun-2020

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
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
Expression
Ubiquitous expression in ovary (RPKM 13.7), skin (RPKM 12.8) and 25 other tissues See more
Orthologs

Genomic context

See EGFL8 in Genome Data Viewer
Location:
6p21.32
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (32164595..32168281)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (32132382..32136062)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr6.1802 Neighboring gene uncharacterized LOC100507547 Neighboring gene proline rich transmembrane protein 1 Neighboring gene PPT2-EGFL8 readthrough (NMD candidate) Neighboring gene palmitoyl-protein thioesterase 2 Neighboring gene 1-acylglycerol-3-phosphate O-acyltransferase 1 Neighboring gene microRNA 6721 Neighboring gene microRNA 6833 Neighboring gene ring finger protein 5

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
NHGRI GWA Catalog
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
NHGRI GWA Catalog
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough PPT2-EGFL8

Readthrough gene: PPT2-EGFL8, Included gene: PPT2

Homology

Clone Names

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
anatomical structure development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT in utero embryonic development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular region IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
epidermal growth factor-like protein 8
Names
EGF-like protein 8
VE-statin-2
vascular endothelial statin-2

NCBI Reference Sequences (RefSeq)

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_030652.4NP_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
    Q99944
    UniProtKB/TrEMBL
    A0A1U9X7N9
    Related
    ENSP00000333380.6, ENST00000333845.11
    Conserved Domains (3) summary
    pfam07546
    Location:37101
    EMI; EMI domain
    pfam14670
    Location:155183
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:119182
    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

  1. 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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    32164595..32168281
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_167244.2 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    3497196..3500883
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    3602947..3606633
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

    Range
    3469579..3473262
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

    Range
    3506616..3510302
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

    Range
    3387796..3391482
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p13 ALT_REF_LOCI_7

    Range
    3480801..3484488
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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