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    EYS eyes shut homolog [ Homo sapiens (human) ]

    Gene ID: 346007, updated on 5-Jan-2022

    Summary

    Official Symbol
    EYSprovided by HGNC
    Official Full Name
    eyes shut homologprovided by HGNC
    Primary source
    HGNC:HGNC:21555
    See related
    Ensembl:ENSG00000188107 MIM:612424
    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
    RP25; SPAM; EGFL10; EGFL11; C6orf178; C6orf179; C6orf180; bA74E24.1; dJ22I17.2; bA166P24.2; bA307F22.3; dJ1018A4.2; dJ303F19.1
    Summary
    The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See EYS in Genome Data Viewer
    Location:
    6q12
    Exon count:
    46
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (63719980..65707226, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (64429876..66417119, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 1413 Neighboring gene ribosomal protein L9 pseudogene 18 Neighboring gene platelet activating factor acetylhydrolase 1b regulatory subunit 1 pseudogene Neighboring gene PHD finger protein 3 Neighboring gene uncharacterized LOC105377836 Neighboring gene uncharacterized LOC107986608 Neighboring gene glucosaminyl (N-acetyl) transferase 1 pseudogene 4 Neighboring gene S-phase cancer associated transcript 8 Neighboring gene Sharpr-MPRA regulatory region 10142 Neighboring gene Sharpr-MPRA regulatory region 6473 Neighboring gene transmembrane protein 98 pseudogene Neighboring gene heterogeneous nuclear ribonucleoprotein D pseudogene 2 Neighboring gene uncharacterized LOC105377837 Neighboring gene uncharacterized LOC107986607 Neighboring gene zinc finger CCCH-type domain-containing-like Neighboring gene SLC25A51 pseudogene 1 Neighboring gene ADH5 pseudogene 4

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Retinitis pigmentosa 25 Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
    EBI GWAS Catalog
    Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
    EBI GWAS Catalog
    Identification of a melanoma susceptibility locus and somatic mutation in TET2.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog
    Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA0663

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables molecular_function ND
    No biological Data available
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in interphotoreceptor matrix IEA
    Inferred from Electronic Annotation
    more info
     
    located_in microtubule organizing center IEA
    Inferred from Electronic Annotation
    more info
     
    located_in photoreceptor outer segment IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    protein eyes shut homolog
    Names
    EGF-like-domain, multiple 10
    EGF-like-domain, multiple 11
    epidermal growth factor-like protein 10
    epidermal growth factor-like protein 11
    protein spacemaker homolog

    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_023443.2 RefSeqGene

      Range
      5000..1992246
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001142800.2NP_001136272.1  protein eyes shut homolog isoform 1 precursor

      See identical proteins and their annotated locations for NP_001136272.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AL450319, BX537914, FJ416331
      Consensus CDS
      CCDS47445.1
      UniProtKB/Swiss-Prot
      Q5T1H1
      Related
      ENSP00000424243.1, ENST00000503581.6
      Conserved Domains (5) summary
      smart00282
      Location:27192856
      LamG; Laminin G domain
      cd00054
      Location:11611197
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:21492315
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam02210
      Location:24612582
      Laminin_G_2; Laminin G domain
      pfam06247
      Location:195283
      Plasmod_Pvs28; Plasmodium ookinete surface protein Pvs28
    2. NM_001142801.2NP_001136273.1  protein eyes shut homolog isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks several 3' exons but contains an alternate 3' terminal exon, and it thus differs in its 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a substantially shorter and unique C-terminus, compared to isoform 1.
      Source sequence(s)
      AL365217, AL450319, BX537914, FJ416331
      Consensus CDS
      CCDS47446.1
      UniProtKB/Swiss-Prot
      Q5T1H1
      Related
      ENSP00000377042.2, ENST00000393380.6
      Conserved Domains (1) summary
      pfam06247
      Location:195283
      Plasmod_Pvs28; Plasmodium ookinete surface protein Pvs28
    3. NM_001292009.2NP_001278938.1  protein eyes shut homolog isoform 4 precursor

      See identical proteins and their annotated locations for NP_001278938.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) includes an additional in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (4) that is longer than isoform 1.
      Source sequence(s)
      AL450319, FJ416331, FM209056
      Consensus CDS
      CCDS78156.1
      UniProtKB/Swiss-Prot
      Q5T1H1
      Related
      ENSP00000359655.3, ENST00000370621.7
      Conserved Domains (5) summary
      smart00282
      Location:27402877
      LamG; Laminin G domain
      cd00054
      Location:11611197
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:21492315
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam02210
      Location:24612582
      Laminin_G_2; Laminin G domain
      pfam06247
      Location:195283
      Plasmod_Pvs28; Plasmodium ookinete surface protein Pvs28
    4. NM_198283.2NP_938024.1  protein eyes shut homolog isoform 3 precursor

      See identical proteins and their annotated locations for NP_938024.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks several exons but contains alternate 5' and 3' exon structure, and it thus differs in its 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (3) has a substantially shorter and unique C-terminus, compared to isoform 1.
      Source sequence(s)
      AL365217, AY358133
      Consensus CDS
      CCDS4967.1
      UniProtKB/Swiss-Prot
      Q5T1H1
      Related
      ENSP00000341818.5, ENST00000342421.9
      Conserved Domains (1) summary
      pfam06247
      Location:195283
      Plasmod_Pvs28; Plasmodium ookinete surface protein Pvs28

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      63719980..65707226 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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