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

Gene ID: 25975, updated on 5-Mar-2024

Summary

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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
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Genomic context

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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_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905248 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20666 Neighboring gene glutathione peroxidase pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chrX:13432009-13432590 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:13446525-13447042 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29438 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29439 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29440 Neighboring gene ribosomal protein L30 pseudogene 15 Neighboring gene microRNA 6086 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:13630114-13630666 Neighboring gene RN7SK pseudogene 20 Neighboring gene NANOG hESC enhancer GRCh37_chrX:13638269-13638787 Neighboring gene uncharacterized LOC107985657 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:13671061-13671372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29442 Neighboring gene uncharacterized LOC107985656 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:13687079-13688278 Neighboring gene transcription elongation factor A N-terminal and central domain containing

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Transcriptome Analyses of Adipose Tissue Samples Identify EGFL6 as a Candidate Gene Involved in Obesity-Related Adipose Tissue Dysfunction in Children. Landgraf K, et al. Int J Mol Sci, 2022 Apr 14. PMID 35457174, Free PMC Article
  2. EGFL6 promotes cell proliferation in colorectal cancer via regulation of the WNT/β-catenin pathway. Zhang QW, et al. Mol Carcinog, 2019 Jun. PMID 30693973
  3. EGFL6 promotes breast cancer by simultaneously enhancing cancer cell metastasis and stimulating tumor angiogenesis. An J, et al. Oncogene, 2019 Mar. PMID 30455428, Free PMC Article
  4. Validation of EGFL6 expression as a prognostic marker in patients with lung adenocarcinoma in Taiwan: a retrospective study. Chang CC, et al. BMJ Open, 2018 Jun 22. PMID 29934389, Free PMC Article
  5. High Level of Plasma EGFL6 Is Associated with Clinicopathological Characteristics in Patients with Oral Squamous Cell Carcinoma. Chuang CY, et al. Int J Med Sci, 2017. PMID 28539817, Free PMC Article

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. It is an oncogene in CRC oncogenesis and development.
    Title: Identification of genes with universally upregulated or downregulated expressions in colorectal cancer.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp564P2063

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

  1. NG_015963.1 RefSeqGene

    Range
    5027..69001
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

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

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    13569601..13633575
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    13151011..13214962
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IUX8.1 GenPept UniProtKB/Swiss-Prot:Q8IUX8

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