Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Interphotoreceptor matrix proteoglycan 2

Gene

IMPG2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Molecular functioni

  • extracellular matrix structural constituent Source: UniProtKB
  • heparin binding Source: UniProtKB-KW
  • hyaluronic acid binding Source: UniProtKB

GO - Biological processi

  • visual perception Source: UniProtKB

Keywordsi

Molecular functionHeparin-binding, Receptor

Names & Taxonomyi

Protein namesi
Recommended name:
Interphotoreceptor matrix proteoglycan 2
Alternative name(s):
Interphotoreceptor matrix proteoglycan of 200 kDa
Short name:
IPM 200
Sialoprotein associated with cones and rods proteoglycan
Short name:
Spacrcan
Gene namesi
Name:IMPG2
Synonyms:IPM200
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000081148.11
HGNCiHGNC:18362 IMPG2
MIMi607056 gene
neXtProtiNX_Q9BZV3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini23 – 1099ExtracellularSequence analysisAdd BLAST1077
Transmembranei1100 – 1120HelicalSequence analysisAdd BLAST21
Topological domaini1121 – 1241CytoplasmicSequence analysisAdd BLAST121

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 56 (RP56)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613581
Macular dystrophy, vitelliform, 5 (VMD5)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:616152
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064336124F → L in VMD5. 1 PublicationCorresponds to variant dbSNP:rs201893545EnsemblClinVar.1
Natural variantiVAR_0726711077C → F in VMD5. 1 PublicationCorresponds to variant dbSNP:rs713993049EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNETi50939
GeneReviewsiIMPG2
MalaCardsiIMPG2
MIMi613581 phenotype
616152 phenotype
OpenTargetsiENSG00000081148
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA29866

Chemistry databases

DrugBankiDB08818 Hyaluronic acid

Polymorphism and mutation databases

BioMutaiIMPG2
DMDMi296439325

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Sequence analysisAdd BLAST22
ChainiPRO_000032014923 – 1241Interphotoreceptor matrix proteoglycan 2Add BLAST1219

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi154N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi190O-linked (GalNAc...) threonineSequence analysis1
Glycosylationi192O-linked (GalNAc...) threonineSequence analysis1
Glycosylationi301N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi320N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi370N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi544O-linked (GalNAc...) threonineSequence analysis1
Glycosylationi556O-linked (GalNAc...) threonineSequence analysis1
Glycosylationi942N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi956N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1014 ↔ 1025PROSITE-ProRule annotation
Disulfide bondi1019 ↔ 1036PROSITE-ProRule annotation
Disulfide bondi1038 ↔ 1050PROSITE-ProRule annotation
Disulfide bondi1054 ↔ 1067PROSITE-ProRule annotation
Disulfide bondi1061 ↔ 1077PROSITE-ProRule annotation
Disulfide bondi1079 ↔ 1092PROSITE-ProRule annotation

Post-translational modificationi

Highly glycosylated (N- and O-linked carbohydrates).1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9BZV3
PeptideAtlasiQ9BZV3
PRIDEiQ9BZV3

PTM databases

iPTMnetiQ9BZV3
PhosphoSitePlusiQ9BZV3

Expressioni

Tissue specificityi

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.2 Publications

Gene expression databases

BgeeiENSG00000081148
CleanExiHS_IMPG2
ExpressionAtlasiQ9BZV3 baseline and differential
GenevisibleiQ9BZV3 HS

Organism-specific databases

HPAiHPA008779
HPA015907

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000193391

Structurei

3D structure databases

ProteinModelPortaliQ9BZV3
SMRiQ9BZV3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini239 – 353SEA 1PROSITE-ProRule annotationAdd BLAST115
Domaini897 – 1010SEA 2PROSITE-ProRule annotationAdd BLAST114
Domaini1010 – 1051EGF-like 1PROSITE-ProRule annotationAdd BLAST42
Domaini1052 – 1093EGF-like 2PROSITE-ProRule annotationAdd BLAST42

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni259 – 267Hyaluronan-binding motif involved in chondroitin sulfate A-bindingBy similarity9
Regioni1080 – 1088Hyaluronan-binding motif involved in chondroitin sulfate C-bindingBy similarity9
Regioni1125 – 1133Hyaluronan-binding motif involved in chondroitin sulfate A- and C-bindingBy similarity9
Regioni1136 – 1145Hyaluronan-binding motif involved in chondroitin sulfate C-bindingBy similarity10
Regioni1210 – 1218Hyaluronan-binding motif involved in chondroitin sulfate A- and C-binding motifBy similarity9

Keywords - Domaini

EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IH0G Eukaryota
ENOG410Y9FF LUCA
GeneTreeiENSGT00530000063503
HOGENOMiHOG000113064
HOVERGENiHBG108006
InParanoidiQ9BZV3
KOiK19017
OMAiWDLISLH
OrthoDBiEOG091G00XU
PhylomeDBiQ9BZV3
TreeFamiTF331340

Family and domain databases

Gene3Di3.30.70.960, 1 hit
InterProiView protein in InterPro
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR032975 IMPG2
IPR000082 SEA_dom
IPR036364 SEA_dom_sf
PANTHERiPTHR12199:SF4 PTHR12199:SF4, 1 hit
PfamiView protein in Pfam
PF01390 SEA, 2 hits
SMARTiView protein in SMART
SM00200 SEA, 2 hits
SUPFAMiSSF82671 SSF82671, 2 hits
PROSITEiView protein in PROSITE
PS01186 EGF_2, 1 hit
PS50026 EGF_3, 2 hits
PS50024 SEA, 2 hits

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q9BZV3-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MIMFPLFGKI SLGILIFVLI EGDFPSLTAQ TYLSIEEIQE PKSAVSFLLP
60 70 80 90 100
EESTDLSLAT KKKQPLDRRE TERQWLIRRR RSILFPNGVK ICPDESVAEA
110 120 130 140 150
VANHVKYFKV RVCQEAVWEA FRTFWDRLPG REEYHYWMNL CEDGVTSIFE
160 170 180 190 200
MGTNFSESVE HRSLIMKKLT YAKETVSSSE LSSPVPVGDT STLGDTTLSV
210 220 230 240 250
PHPEVDAYEG ASESSLERPE ESISNEIENV IEEATKPAGE QIAEFSIHLL
260 270 280 290 300
GKQYREELQD SSSFHHQHLE EEFISEVENA FTGLPGYKEI RVLEFRSPKE
310 320 330 340 350
NDSGVDVYYA VTFNGEAISN TTWDLISLHS NKVENHGLVE LDDKPTVVYT
360 370 380 390 400
ISNFRDYIAE TLQQNFLLGN SSLNPDPDSL QLINVRGVLR HQTEDLVWNT
410 420 430 440 450
QSSSLQATPS SILDNTFQAA WPSADESITS SIPPLDFSSG PPSATGRELW
460 470 480 490 500
SESPLGDLVS THKLAFPSKM GLSSSPEVLE VSSLTLHSVT PAVLQTGLPV
510 520 530 540 550
ASEERTSGSH LVEDGLANVE ESEDFLSIDS LPSSSFTQPV PKETIPSMED
560 570 580 590 600
SDVSLTSSPY LTSSIPFGLD SLTSKVKDQL KVSPFLPDAS MEKELIFDGG
610 620 630 640 650
LGSGSGQKVD LITWPWSETS SEKSAEPLSK PWLEDDDSLL PAEIEDKKLV
660 670 680 690 700
LVDKMDSTDQ ISKHSKYEHD DRSTHFPEEE PLSGPAVPIF ADTAAESASL
710 720 730 740 750
TLPKHISEVP GVDDYSVTKA PLILTSVAIS ASTDKSDQAD AILREDMEQI
760 770 780 790 800
TESSNYEWFD SEVSMVKPDM QTLWTILPES ERVWTRTSSL EKLSRDILAS
810 820 830 840 850
TPQSADRLWL SVTQSTKLPP TTISTLLEDE VIMGVQDISL ELDRIGTDYY
860 870 880 890 900
QPEQVQEQNG KVGSYVEMST SVHSTEMVSV AWPTEGGDDL SYTQTSGALV
910 920 930 940 950
VFFSLRVTNM MFSEDLFNKN SLEYKALEQR FLELLVPYLQ SNLTGFQNLE
960 970 980 990 1000
ILNFRNGSIV VNSRMKFANS VPPNVNNAVY MILEDFCTTA YNTMNLAIDK
1010 1020 1030 1040 1050
YSLDVESGDE ANPCKFQACN EFSECLVNPW SGEAKCRCFP GYLSVEERPC
1060 1070 1080 1090 1100
QSLCDLQPDF CLNDGKCDIM PGHGAICRCR VGENWWYRGK HCEEFVSEPV
1110 1120 1130 1140 1150
IIGITIASVV GLLVIFSAII YFFIRTLQAH HDRSERESPF SGSSRQPDSL
1160 1170 1180 1190 1200
SSIENAVKYN PVYESHRAGC EKYEGPYPQH PFYSSASGDV IGGLSREEIR
1210 1220 1230 1240
QMYESSELSR EEIQERMRVL ELYANDPEFA AFVREQQVEE V
Length:1,241
Mass (Da):138,621
Last modified:May 18, 2010 - v3
Checksum:iE72D7BFB84824078
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti5P → L in AAF13154 (PubMed:10702256).Curated1
Sequence conflicti77I → T in AAF13154 (PubMed:10702256).Curated1
Sequence conflicti668E → V in AAF13154 (PubMed:10702256).Curated1
Sequence conflicti715Y → C in AAF06999 (PubMed:10542133).Curated1
Sequence conflicti1012N → T in AAG49889 (PubMed:10542133).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064336124F → L in VMD5. 1 PublicationCorresponds to variant dbSNP:rs201893545EnsemblClinVar.1
Natural variantiVAR_039144344K → N. Corresponds to variant dbSNP:rs34375459Ensembl.1
Natural variantiVAR_039145674T → I3 PublicationsCorresponds to variant dbSNP:rs571391EnsemblClinVar.1
Natural variantiVAR_0391461013P → L1 PublicationCorresponds to variant dbSNP:rs116450347EnsemblClinVar.1
Natural variantiVAR_0726711077C → F in VMD5. 1 PublicationCorresponds to variant dbSNP:rs713993049EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF173155 mRNA Translation: AAF06999.1
AF271379
, AF271363, AF271364, AF271365, AF271366, AF271367, AF271368, AF271369, AF271370, AF271371, AF271372, AF271373, AF271374, AF271375, AF271376, AF271377, AF271378 Genomic DNA Translation: AAG49889.1
AF157624 mRNA Translation: AAF13154.1
AC068764 Genomic DNA No translation available.
CCDSiCCDS2940.1
RefSeqiNP_057331.2, NM_016247.3
UniGeneiHs.209249

Genome annotation databases

EnsembliENST00000193391; ENSP00000193391; ENSG00000081148
GeneIDi50939
KEGGihsa:50939
UCSCiuc003duq.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiIMPG2_HUMAN
AccessioniPrimary (citable) accession number: Q9BZV3
Secondary accession number(s): A8MWT5, Q9UKD4, Q9UKK5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: May 18, 2010
Last modified: April 25, 2018
This is version 111 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Cookie policy

We would like to use anonymized google analytics cookies to gather statistics on how uniprot.org is used in aggregate. Learn more

UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health