EGFL6 EGF like domain multiple 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EGFL6provided by HGNC
Official Full Name: EGF like domain multiple 6provided by HGNC
Primary source: HGNC:HGNC:3235
See related: Ensembl:ENSG00000198759 MIM:300239; AllianceGenome:HGNC:3235
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: W80; MAEG
Summary: This gene encodes a member of the epidermal growth factor (EGF) repeat superfamily. Members of this superfamily are characterized by the presence of EGF-like repeats and are often involved in the regulation of cell cycle, proliferation, and developmental processes. The gene product contains a signal peptide, suggesting that it is secreted; an EGF repeat region consisting of 4 complete EGF-like repeats and 1 partial EGF-like repeat, 3 of which have a calcium-binding consensus sequence; an arg-gly-asp integrin association motif; and a MAM domain, which is believed to have an adhesive function. This gene is expressed early during development, and its expression has been detected in lung and meningioma tumors. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward placenta (RPKM 287.0) See more
Orthologs: mouse all
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Genomic context

Location:: Xp22.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (13569601..13633575)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (13151011..13214962)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (13587720..13651694)

Chromosome X - NC_000023.11 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?

Transcriptome Analyses of Adipose Tissue Samples Identify EGFL6 as a Candidate Gene Involved in Obesity-Related Adipose Tissue Dysfunction in Children.
Title: Transcriptome Analyses of Adipose Tissue Samples Identify EGFL6 as a Candidate Gene Involved in Obesity-Related Adipose Tissue Dysfunction in Children.
Epidermal growth factor-like domain protein 6 recombinant protein facilitates osteogenic differentiation in adipose stem cells via bone morphogenetic protein 2/recombinant mothers against decapentaplegic homolog 4 signaling pathway.
Title: Epidermal growth factor-like domain protein 6 recombinant protein facilitates osteogenic differentiation in adipose stem cells via bone morphogenetic protein 2/recombinant mothers against decapentaplegic homolog 4 signaling pathway.
Upregulation of miR126 inhibits podocyte injury in sepsis via EGFL6/DKC1 signaling pathway.
Title: Upregulation of miR‑126 inhibits podocyte injury in sepsis via EGFL6/DKC1 signaling pathway.
Thalidomide targets EGFL6 to inhibit EGFL6/PAX6 axis-driven angiogenesis in small bowel vascular malformation.
Title: Thalidomide targets EGFL6 to inhibit EGFL6/PAX6 axis-driven angiogenesis in small bowel vascular malformation.
It is an oncogene in CRC oncogenesis and development.
Title: Identification of genes with universally upregulated or downregulated expressions in colorectal cancer.
In summary, we provided evidence that EGFL6 was highly expressed in nasopharyngeal carcinoma (NPC), and was associated with migration and growth of NPC cells.
Title: Elevated EGFL6 modulates cell metastasis and growth via AKT pathway in nasopharyngeal carcinoma.
Results showed that EGFL6 may play an important role in the adenomacarcinoma process, and high expression predicted poor survival in colorectal cancer (CRC) patients. These findings provide evidence for EGFL6 is a novel inducer of proliferation in CRC, partially through the activation of beta-catenin via the WNT pathway. As a secreted protein, EGFL6 induces its function via secreted proteins targeting CRC cells.
Title: EGFL6 promotes cell proliferation in colorectal cancer via regulation of the WNT/β-catenin pathway.
High EGFL6 expression may serve as a marker for poor prognosis of lung adenocarcinoma, especially in younger patients.
Title: Validation of EGFL6 expression as a prognostic marker in patients with lung adenocarcinoma in Taiwan: a retrospective study.
EGFL6 promotes breast cancer by simultaneously enhancing cancer cell metastasis and stimulating tumor angiogenesis
Title: EGFL6 promotes breast cancer by simultaneously enhancing cancer cell metastasis and stimulating tumor angiogenesis.
In conclusion, our results suggest that plasma level of EGFL6 may be useful to assess disease progression, and especially advanced T status and higher TNM stage in patients with oral squamous cell carcinoma.
Title: High Level of Plasma EGFL6 Is Associated with Clinicopathological Characteristics in Patients with Oral Squamous Cell Carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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

EBI GWAS Catalog

Description
A genome-wide association study of brain lesion distribution in multiple sclerosis. 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

SHGC-110611 (e-PCR)
- UniSTS:167937

DXS7938 (e-PCR)
- UniSTS:98867

DXS7936 (e-PCR)
- UniSTS:98869

L77196 (e-PCR)
- UniSTS:23623

STS-W80818 (e-PCR)
- UniSTS:80265

DXS1526 (e-PCR)
- UniSTS:99532

L77195 (e-PCR)
- UniSTS:50142

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables integrin binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

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
involved_in extracellular matrix organization	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell-substrate adhesion	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in basement membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular space	TAS Traceable Author Statement more info	PubMed
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 repeat-containing protein 6; EGF-like protein 6; MAM and EGF domain containing; 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.

Genomic

NG_015963.1 RefSeqGene

Range

5027..69001

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001167890.2 → NP_001161362.1 epidermal growth factor-like protein 6 isoform 2 precursor

See identical proteins and their annotated locations for NP_001161362.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the coding region, compared to variant 1. It encodes isoform 2 which is 1 aa longer than isoform 1.

Source sequence(s)

AJ245671, DA534733, DC380958

Consensus CDS

CCDS55370.1

UniProtKB/Swiss-Prot

Q8IUX8

Related

ENSP00000369976.3, ENST00000380602.3

Conserved Domains (4) summary

cd06263
Location:403 → 545

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:174 → 207

EGF_CA; Calcium-binding EGF-like domain

pfam00629
Location:403 → 546

MAM; MAM domain, meprin/A5/mu

pfam12947
Location:223 → 258

EGF_3; EGF domain
NM_015507.4 → NP_056322.2 epidermal growth factor-like protein 6 isoform 1 precursor

See identical proteins and their annotated locations for NP_056322.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform.

Source sequence(s)

BC038587, DA534733, DC380958

Consensus CDS

CCDS14155.1

UniProtKB/Swiss-Prot

B2RCB1, Q6UXJ1, Q8IUX8, Q8NBV0, Q8WYG3, Q9NY67, Q9NZL7, Q9UFK6

Related

ENSP00000355126.1, ENST00000361306.6

Conserved Domains (3) summary

cd06263
Location:402 → 544

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:174 → 207

EGF_CA; Calcium-binding EGF-like domain

pfam12947
Location:223 → 258

EGF_3; EGF domain