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Aliases for IMPG2 Gene

Aliases for IMPG2 Gene

  • Interphotoreceptor Matrix Proteoglycan 2 2 3
  • IPM200 3 4 6
  • Sialoprotein Associated With Cones And Rods Proteoglycan 3 4
  • Interphotoreceptor Matrix Proteoglycan Of 200 KDa 3 4
  • SPACRCAN 3 4
  • IPM 200 3 4
  • RP56 3 6
  • Interphotoreceptor Matrix Proteoglycan IPM 200 3
  • VMD5 3

External Ids for IMPG2 Gene

Summaries for IMPG2 Gene

Entrez Gene Summary for IMPG2 Gene

  • 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]

GeneCards Summary for IMPG2 Gene

IMPG2 (Interphotoreceptor Matrix Proteoglycan 2) is a Protein Coding gene. Diseases associated with IMPG2 include retinitis pigmentosa 56 and impg2-related retinitis pigmentosa. Among its related pathways are ERK Signaling and ERK Signaling. GO annotations related to this gene include heparin binding and hyaluronic acid binding. An important paralog of this gene is IMPG1.

UniProtKB/Swiss-Prot for IMPG2 Gene

  • Chondroitin sulfate- and hyaluronan-binding proteoglycan involved in the organization of interphotoreceptor matrix; may participate in the maturation and maintenance of the light-sensitive photoreceptor outer segment. Binds heparin.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IMPG2 Gene

Genomics for IMPG2 Gene

Genomic Location for IMPG2 Gene

Start:
101,222,546 bp from pter
End:
101,320,575 bp from pter
Size:
98,030 bases
Orientation:
Minus strand

Genomic View for IMPG2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IMPG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IMPG2 Gene

Regulatory Elements for IMPG2 Gene

Proteins for IMPG2 Gene

  • Protein details for IMPG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZV3-IMPG2_HUMAN
    Recommended name:
    Interphotoreceptor matrix proteoglycan 2
    Protein Accession:
    Q9BZV3
    Secondary Accessions:
    • A8MWT5
    • Q9UKD4
    • Q9UKK5

    Protein attributes for IMPG2 Gene

    Size:
    1241 amino acids
    Molecular mass:
    138621 Da
    Quaternary structure:
    No Data Available

neXtProt entry for IMPG2 Gene

Proteomics data for IMPG2 Gene at MOPED

Post-translational modifications for IMPG2 Gene

  • Highly glycosylated (N- and O-linked carbohydrates).
  • Glycosylation at Asn154, Thr190, Thr192, Asn301, Asn320, Asn370, Thr544, Thr556, Asn942, and Asn956

Other Protein References for IMPG2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for IMPG2 Gene

Domains for IMPG2 Gene

Protein Domains for IMPG2 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

IMPG2_HUMAN
Domain:
  • Contains 2 EGF-like domains.:
    • Q9BZV3
  • Contains 2 SEA domains.:
    • Q9BZV3
genes like me logo Genes that share domains with IMPG2: view

No data available for Gene Families for IMPG2 Gene

Function for IMPG2 Gene

Molecular function for IMPG2 Gene

UniProtKB/Swiss-Prot Function: Chondroitin sulfate- and hyaluronan-binding proteoglycan involved in the organization of interphotoreceptor matrix; may participate in the maturation and maintenance of the light-sensitive photoreceptor outer segment. Binds heparin.

Gene Ontology (GO) - Molecular Function for IMPG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent TAS 10702256
GO:0005515 protein binding --
GO:0005540 hyaluronic acid binding TAS 10702256
GO:0008201 heparin binding IEA --
genes like me logo Genes that share ontologies with IMPG2: view

Phenotypes for IMPG2 Gene

GenomeRNAi human phenotypes for IMPG2:
genes like me logo Genes that share phenotypes with IMPG2: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for IMPG2 Gene

Localization for IMPG2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IMPG2 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IMPG2 Gene COMPARTMENTS Subcellular localization image for IMPG2 gene
Compartment Confidence
extracellular 5
plasma membrane 3
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for IMPG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix TAS 10702256
GO:0016021 integral component of membrane IEA --
GO:0043235 receptor complex IDA 23382219
genes like me logo Genes that share ontologies with IMPG2: view

Pathways for IMPG2 Gene

genes like me logo Genes that share pathways with IMPG2: view

Pathways by source for IMPG2 Gene

Interacting Proteins for IMPG2 Gene

Selected Interacting proteins: Q9BZV3-IMPG2_HUMAN for IMPG2 Gene via I2D

Symbol External ID(s) Details
PPP2CA

Gene Ontology (GO) - Biological Process for IMPG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception TAS 10702256
genes like me logo Genes that share ontologies with IMPG2: view

Compounds for IMPG2 Gene

(1) HMDB Compounds for IMPG2 Gene

Compound Synonyms Cas Number PubMed IDs
Hyaluronan
  • hyaluronic acid
9004-61-9
genes like me logo Genes that share compounds with IMPG2: view

Transcripts for IMPG2 Gene

mRNA/cDNA for IMPG2 Gene

Unigene Clusters for IMPG2 Gene

Interphotoreceptor matrix proteoglycan 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for IMPG2 Gene

No ASD Table

Relevant External Links for IMPG2 Gene

GeneLoc Exon Structure for
IMPG2
ECgene alternative splicing isoforms for
IMPG2

Expression for IMPG2 Gene

mRNA expression in normal human tissues for IMPG2 Gene

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for IMPG2 Gene

SOURCE GeneReport for Unigene cluster for IMPG2 Gene Hs.209249

mRNA Expression by UniProt/SwissProt for IMPG2 Gene

Q9BZV3-IMPG2_HUMAN
Tissue specificity: Expressed in the retina. Expressed by photoreceptors of the interphotoreceptor matrix (IPM) surrounding both rods and cones. IPM occupies the subretinal space between the apices of the retinal pigment epithelium and the neural retina. Detected in the pineal gland.
genes like me logo Genes that share expressions with IMPG2: view

Orthologs for IMPG2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IMPG2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IMPG2 36
  • 99.62 (n)
  • 99.6 (a)
IMPG2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IMPG2 36
  • 86.23 (n)
  • 79.22 (a)
IMPG2 37
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IMPG2 36
  • 87.48 (n)
  • 81.18 (a)
IMPG2 37
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Impg2 36
  • 81.52 (n)
  • 72.73 (a)
Impg2 16
Impg2 37
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IMPG2 37
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IMPG2 37
  • 51 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Impg2 36
  • 81.94 (n)
  • 73.85 (a)
chicken
(Gallus gallus)
Aves IMPG2 36
  • 63.39 (n)
  • 54.38 (a)
IMPG2 37
  • 39 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IMPG2 37
  • 44 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii IMPG2 (1 of 4) 37
  • 38 (a)
OneToMany
IMPG2 (2 of 4) 37
  • 32 (a)
OneToMany
IMPG2 (3 of 4) 37
  • 36 (a)
OneToMany
IMPG2 (4 of 4) 37
  • 66 (a)
OneToMany
Species with no ortholog for IMPG2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IMPG2 Gene

ENSEMBL:
Gene Tree for IMPG2 (if available)
TreeFam:
Gene Tree for IMPG2 (if available)

Paralogs for IMPG2 Gene

Paralogs for IMPG2 Gene

Selected SIMAP similar genes for IMPG2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with IMPG2: view

Variants for IMPG2 Gene

Sequence variations from dbSNP and Humsavar for IMPG2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs2329 -- 101,290,614(-) CAATG(C/G)ACTGA intron-variant
rs17487 -- 101,322,021(+) CCAAA(C/G)ATGTT upstream-variant-2KB
rs168362 -- 101,232,284(+) CCAGG(C/G)TGGAG intron-variant
rs348859 -- 101,236,748(+) ccctc(A/G)gtttc intron-variant
rs348860 -- 101,236,460(+) atcaa(C/T)gcaga intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IMPG2 Gene

Variant ID Type Subtype PubMed ID
nsv877222 CNV Gain 21882294
nsv508232 CNV Loss 20534489

Relevant External Links for IMPG2 Gene

HapMap Linkage Disequilibrium report
IMPG2
Human Gene Mutation Database (HGMD)
IMPG2
Locus Specific Mutation Databases (LSDB)
IMPG2

Disorders for IMPG2 Gene

(1) OMIM Diseases for IMPG2 Gene (607056)

UniProtKB/Swiss-Prot

IMPG2_HUMAN
  • Retinitis pigmentosa 56 (RP56) [MIM:613581]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:20673862}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Macular dystrophy, vitelliform, 5 (VMD5) [MIM:616152]: A form of macular dystrophy, a retinal disease in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea. Vitelliform macular dystrophies are characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. VMD5 features include late-onset moderate visual impairment and preservation of retinal pigment epithelium reflectivity. {ECO:0000269 PubMed:20673862, ECO:0000269 PubMed:25085631}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for IMPG2

Genetic Association Database (GAD)
IMPG2
Human Genome Epidemiology (HuGE) Navigator
IMPG2
genes like me logo Genes that share disorders with IMPG2: view

Publications for IMPG2 Gene

  1. SPACRCAN, a novel human interphotoreceptor matrix hyaluronan-binding proteoglycan synthesized by photoreceptors and pinealocytes. (PMID: 10702256) Acharya S. … Hollyfield J.G. (J. Biol. Chem. 2000) 3 4 23
  2. Organization of the human IMPG2 gene and its evaluation as a candidate gene in age-related macular degeneration and other retinal degenerative disorders. (PMID: 11726612) Kuehn M.H. … Hageman G.S. (Invest. Ophthalmol. Vis. Sci. 2001) 3 4 23
  3. Molecular characterization and genomic mapping of human IPM 200, a second member of a novel family of proteoglycans. (PMID: 10542133) Kuehn M.H. … Hageman G.S. (Mol. Cell Biol. Res. Commun. 1999) 2 3 4
  4. Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes. (PMID: 25085631) Meunier I. … Hamel C.P. (Ophthalmology 2014) 3 4
  5. Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. (PMID: 20673862) Bandah-Rozenfeld D. … den Hollander A.I. (Am. J. Hum. Genet. 2010) 3 4

Products for IMPG2 Gene

Sources for IMPG2 Gene

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