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    IMPG2 interphotoreceptor matrix proteoglycan 2 [ Homo sapiens (human) ]

    Gene ID: 50939, updated on 17-Jun-2019

    Summary

    Official Symbol
    IMPG2provided by HGNC
    Official Full Name
    interphotoreceptor matrix proteoglycan 2provided by HGNC
    Primary source
    HGNC:HGNC:18362
    See related
    Ensembl:ENSG00000081148 MIM:607056
    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
    RP56; VMD5; IPM200; SPACRCAN
    Summary
    The protein encoded by this gene binds chondroitin sulfate and hyaluronan and is a proteoglycan. The encoded protein plays a role in the organization of the interphotoreceptor matrix and may promote the growth and maintenance of the light-sensitive photoreceptor outer segment. Defects in this gene are a cause of retinitis pigmentosa type 56 and maculopathy, IMPG2-related.[provided by RefSeq, Mar 2011]
    Expression
    Low expression observed in reference dataset See more
    Orthologs

    Genomic context

    See IMPG2 in Genome Data Viewer
    Location:
    3q12.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (101222546..101320575, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (100941390..101039419, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ABI family member 3 binding protein Neighboring gene RNA, U6 small nuclear 865, pseudogene Neighboring gene ACTR3 pseudogene 3 Neighboring gene SUMO specific peptidase 7 Neighboring gene zinc finger protein 90 pseudogene 1 Neighboring gene family with sequence similarity 136 member A pseudogene

    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?

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    extracellular matrix structural constituent TAS
    Traceable Author Statement
    more info
    PubMed 
    heparin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    hyaluronic acid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    hyaluronic acid binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    visual perception TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular matrix TAS
    Traceable Author Statement
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    interphotoreceptor matrix IEA
    Inferred from Electronic Annotation
    more info
     
    receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    interphotoreceptor matrix proteoglycan 2
    Names
    IPM 200
    interphotoreceptor matrix proteoglycan IPM 200
    interphotoreceptor matrix proteoglycan of 200 kDa
    sialoprotein associated with cones and rods proteoglycan

    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_028284.1 RefSeqGene

      Range
      5001..103030
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_016247.4NP_057331.2  interphotoreceptor matrix proteoglycan 2 precursor

      See identical proteins and their annotated locations for NP_057331.2

      Status: REVIEWED

      Source sequence(s)
      AB593127, AC093008, BM671068, BX953286
      Consensus CDS
      CCDS2940.1
      UniProtKB/Swiss-Prot
      Q9BZV3
      UniProtKB/TrEMBL
      F1T0J3
      Related
      ENSP00000193391.6, ENST00000193391.8
      Conserved Domains (2) summary
      smart00200
      Location:8931015
      SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
      cl02507
      Location:240349
      SEA; SEA 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_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      101222546..101320575 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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