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

Gene ID: 50939, updated on 31-May-2018
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; Vega:OTTHUMG00000159091
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
See IMPG2 in Genome Data Viewer
Location:
3q12.3
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
extracellular matrix structural constituent TAS
Traceable Author Statement
more info
PubMed 
heparin binding IEA
Inferred from Electronic Annotation
more info
 
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 
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

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_016247.3NP_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, OTTHUMP00000214052, ENST00000193391.7, OTTHUMT00000353256
    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 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

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