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

    Gene ID: 25975, updated on 9-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EGFL6 in Genome Data Viewer
    Location:
    Xp22.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (13569601..13633575)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (13151011..13214962)
    RS_2024_09 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

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001167890.2NP_001161362.1  epidermal growth factor-like protein 6 isoform 2 precursor

      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

      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: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: GCF_000001405.40-RS_2024_08

    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)