Format

Send to:

Choose Destination

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

Gene ID: 25975, updated on 15-Jun-2019

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
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

Genomic context

See EGFL6 in Genome Data Viewer
Location:
Xp22.2
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (13569575..13633575)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (13587694..13651694)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1203 Neighboring gene uncharacterized LOC105373137 Neighboring gene glutathione peroxidase pseudogene 1 Neighboring gene ribosomal protein L30 pseudogene 15 Neighboring gene microRNA 6086 Neighboring gene RN7SK pseudogene 20 Neighboring gene uncharacterized LOC107985657 Neighboring gene uncharacterized LOC107985656 Neighboring gene transcription elongation factor A N-terminal and central domain containing

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 FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp564P2063

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
integrin binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell-substrate adhesion IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
basement membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular space TAS
Traceable Author Statement
more info
PubMed 
membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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
    5001..69001
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001167890.2NP_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:403545
    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:174207
    EGF_CA; Calcium-binding EGF-like domain
    pfam00629
    Location:403546
    MAM; MAM domain, meprin/A5/mu
    pfam12947
    Location:223258
    EGF_3; EGF domain
  2. NM_015507.4NP_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
    Q8IUX8
    Related
    ENSP00000355126.1, ENST00000361306.6
    Conserved Domains (3) summary
    cd06263
    Location:402544
    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:174207
    EGF_CA; Calcium-binding EGF-like domain
    pfam12947
    Location:223258
    EGF_3; EGF domain

RefSeqs of Annotated Genomes: Homo sapiens 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_000023.11 Reference GRCh38.p13 Primary Assembly

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