Egfl6 EGF-like-domain, multiple 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Egfl6provided by MGI
Official Full Name: EGF-like-domain, multiple 6provided by MGI
Primary source: MGI:MGI:1858599
See related: Ensembl:ENSMUSG00000000402 AllianceGenome:MGI:1858599
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Maeg
Summary: Predicted to enable calcium ion binding activity. Acts upstream of or within extracellular matrix organization and positive regulation of cell-substrate adhesion. Located in basement membrane. Is expressed in several structures, including alimentary system; genitourinary system; limb; lung; and skin. Orthologous to human EGFL6 (EGF like domain multiple 6). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in limb E14.5 (RPKM 27.0), lung adult (RPKM 9.7) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: X F5; X 77.66 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (165306003..165368712, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (166523007..166585716, complement)

Chromosome X - NC_000086.8 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Osteoblast-derived EGFL6 couples angiogenesis to osteogenesis during bone repair.
Title: Osteoblast-derived EGFL6 couples angiogenesis to osteogenesis during bone repair.
EGFL6 expression in hair follicle central isthmus is dependent on the presence of terminal Schwann cells.
Title: EGFL6 expression in hair follicle central isthmus is dependent on the presence of terminal Schwann cells.
EGLF6 mediates a paracrine mechanism of cross-talk between vascular endothelial cells and osteoblasts
Title: EGFL6 promotes endothelial cell migration and angiogenesis through the activation of extracellular signal-regulated kinase.
MAEG may play a role as a mediator regulating epithelial-mesenchymal interaction through binding to RGD-binding integrins including alpha8beta1 during hair follicle development.
Title: Expression of MAEG, a novel basement membrane protein, in mouse hair follicle morphogenesis.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4) 1 citation
Gene trapped (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Egfl6 (e-PCR), detects polymorphism
- UniSTS:164906

px-50c7 (e-PCR)
- UniSTS:257877

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within extracellular matrix organization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of cell-substrate adhesion	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in basement membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: epidermal growth factor-like protein 6

Names: EGF-like protein 6; MAM and EGF domains-containing gene protein

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_019397.3 → NP_062270.1 epidermal growth factor-like protein 6 precursor

See identical proteins and their annotated locations for NP_062270.1

Status: VALIDATED

Source sequence(s)

AL672174

Consensus CDS

CCDS30528.1

UniProtKB/Swiss-Prot

Q8BPM8, Q9JJZ5

Related

ENSMUSP00000000412.3, ENSMUST00000000412.3

Conserved Domains (5) summary

cd06263
Location:399 → 541

MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...

smart00179
Location:172 → 205

EGF_CA; Calcium-binding EGF-like domain

pfam00629
Location:399 → 542

MAM; MAM domain, meprin/A5/mu

pfam12947
Location:221 → 256

EGF_3; EGF domain

cl00057
Location:86 → 127

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 ...