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Aliases for IMPG2 Gene

Aliases for IMPG2 Gene

  • Interphotoreceptor Matrix Proteoglycan 2 2 3 5
  • Sialoprotein Associated With Cones And Rods Proteoglycan 3 4
  • Interphotoreceptor Matrix Proteoglycan Of 200 KDa 3 4
  • SPACRCAN 3 4
  • IPM 200 3 4
  • IPM200 3 4
  • Interphotoreceptor Matrix Proteoglycan IPM 200 3
  • RP56 3
  • VMD5 3

External Ids for IMPG2 Gene

Previous GeneCards Identifiers for IMPG2 Gene

  • GC03M097598
  • GC03M100372
  • GC03M102226
  • GC03M102266
  • GC03M102428
  • GC03M100944
  • GC03M098313

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 Macular Dystrophy, Vitelliform, 5 and Retinitis Pigmentosa 56. Among its related pathways are Phospholipase-C Pathway 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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IMPG2 Gene

Genomics for IMPG2 Gene

Regulatory Elements for IMPG2 Gene

Enhancers for IMPG2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G101529 1.3 ENCODE dbSUPER 7.3 -210.9 -210878 4.3 ATF1 ARNT TCF12 ZNF766 ELK1 GATA2 FOS KLF13 CAVIN1 NCOA1 SENP7 TRMT10C IMPG2 PDCL3P4 FAM172BP
GH03G101560 1.1 ENCODE 5.8 -241.5 -241488 2.3 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CBX5 ZNF143 SENP7 NXPE3 RPL24 ZBTB11-AS1 IMPG2 PDCL3P4 TRMT10C PCNP
GH03G102155 1.5 FANTOM5 Ensembl ENCODE dbSUPER 4.1 -836.8 -836758 3.3 FOXA2 JUN HLF JUNB ZNF644 JUND EED NR2F6 ETV6 PRDM10 ZPLD1 IMPG2 LOC101929411 GC03M102109
GH03G101193 0.6 ENCODE 6.9 +126.4 126421 1.0 JUN CEBPB EP300 RFX5 ZNF316 JUND MAFF MAFK RNU6-865P ZBTB11-AS1 IMPG2 ACTR3P3 GC03P101264
GH03G101375 0.4 ENCODE 7.5 -55.4 -55369 0.8 CEBPB HNF4A SENP7 IMPG2 ZNF90P1 LOC100287852
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IMPG2 on UCSC Golden Path with GeneCards custom track

Genomic Location for IMPG2 Gene

Chromosome:
3
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

Genes around IMPG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IMPG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IMPG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for IMPG2 Gene

  • Highly glycosylated (N- and O-linked carbohydrates).
  • Glycosylation at isoforms=154, posLast=190190, posLast=192192, posLast=301301, isoforms=320, isoforms=370, isoforms=544, isoforms=556, posLast=942942, and isoforms=956
  • Modification sites at PhosphoSitePlus

Other Protein References for IMPG2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for IMPG2 Gene

Domains & Families for IMPG2 Gene

Protein Domains for IMPG2 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families and UniProtKB/Swiss-Prot 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:0005540 hyaluronic acid binding TAS 10702256
GO:0008201 heparin binding IEA --
genes like me logo Genes that share ontologies with IMPG2: view
genes like me logo Genes that share phenotypes with IMPG2: view

Human Phenotype Ontology for IMPG2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0033165 interphotoreceptor matrix IEA --
GO:0043235 receptor complex IDA 23382219
genes like me logo Genes that share ontologies with IMPG2: view

Pathways & Interactions 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 IID

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

No data available for SIGNOR curated interactions for IMPG2 Gene

Drugs & Compounds for IMPG2 Gene

(1) Drugs for IMPG2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hyaluronic acid Approved, Vet_approved Pharma Target, binder 469
genes like me logo Genes that share compounds with IMPG2: view

Transcripts for IMPG2 Gene

mRNA/cDNA for IMPG2 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(35) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for IMPG2 Gene

Interphotoreceptor matrix proteoglycan 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for IMPG2 Gene

Protein differential expression in normal tissues from HIPED for IMPG2 Gene

This gene is overexpressed in Retina (65.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IMPG2 Gene



Protein tissue co-expression partners for IMPG2 Gene

NURSA nuclear receptor signaling pathways regulating expression of IMPG2 Gene:

IMPG2

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.

Evidence on tissue expression from TISSUES for IMPG2 Gene

  • Eye(3.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IMPG2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with IMPG2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for IMPG2 Gene

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 34 35
  • 99.62 (n)
dog
(Canis familiaris)
Mammalia IMPG2 34 35
  • 87.48 (n)
cow
(Bos Taurus)
Mammalia IMPG2 34 35
  • 86.23 (n)
rat
(Rattus norvegicus)
Mammalia Impg2 34
  • 81.94 (n)
mouse
(Mus musculus)
Mammalia Impg2 34 16 35
  • 81.52 (n)
oppossum
(Monodelphis domestica)
Mammalia IMPG2 35
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IMPG2 35
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves IMPG2 34 35
  • 63.39 (n)
lizard
(Anolis carolinensis)
Reptilia IMPG2 35
  • 44 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii IMPG2 (4 of 4) 35
  • 66 (a)
OneToMany
IMPG2 (1 of 4) 35
  • 38 (a)
OneToMany
IMPG2 (3 of 4) 35
  • 36 (a)
OneToMany
IMPG2 (2 of 4) 35
  • 32 (a)
OneToMany
Species where no ortholog for IMPG2 was found in the sources mined by GeneCards:
  • 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

(1) 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
rs201893545 Pathogenic, Macular dystrophy, vitelliform, 5 (VMD5) [MIM:616152] 101,304,277(+) CCAAA(A/G)AGTCC reference, missense
rs713993049 Pathogenic, Macular dystrophy, vitelliform, 5 (VMD5) [MIM:616152] 101,232,784(-) CATTT(G/T)TAGGT reference, missense
rs199867882 Pathogenic 101,231,117(+) GCCTC(A/G)GTACC reference, stop-gained
rs267606874 Pathogenic 101,275,694(-) TGCCT(C/G)AGAGA reference, stop-gained
rs267606875 Pathogenic 101,242,820(-) ACAGT(C/T)GAATG reference, stop-gained

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

Variant ID Type Subtype PubMed ID
esv3597186 CNV loss 21293372
nsv1003475 CNV gain 25217958
nsv508232 CNV deletion 20534489

Variation tolerance for IMPG2 Gene

Residual Variation Intolerance Score: 5.08% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.12; 51.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IMPG2 Gene

Human Gene Mutation Database (HGMD)
IMPG2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IMPG2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IMPG2 Gene

Disorders for IMPG2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for IMPG2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
macular dystrophy, vitelliform, 5
  • vmd5
retinitis pigmentosa 56
  • rp56
macular dystrophy, vitelliform, 3
  • adult-onset vitelliform macular dystrophy
retinitis pigmentosa
  • retinitis pigmentosa 1
impg2-related retinitis pigmentosa
  • retinitis pigmentosa 56
- elite association - COSMIC cancer census association via MalaCards
Search IMPG2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IMPG2_HUMAN
  • 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.
  • 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.

Relevant External Links for IMPG2

Genetic Association Database (GAD)
IMPG2
Human Genome Epidemiology (HuGE) Navigator
IMPG2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IMPG2
genes like me logo Genes that share disorders with IMPG2: view

No data available for Genatlas for IMPG2 Gene

Publications for IMPG2 Gene

  1. 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 22 64
  2. 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 22 64
  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 64
  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 64
  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 64

Products for IMPG2 Gene

Sources for IMPG2 Gene

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