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Q9BZV3

- IMPG2_HUMAN

UniProt

Q9BZV3 - IMPG2_HUMAN

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Protein

Interphotoreceptor matrix proteoglycan 2

Gene
IMPG2, IPM200
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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

  1. extracellular matrix structural constituent Source: UniProtKB
  2. heparin binding Source: UniProtKB-KW
  3. hyaluronic acid binding Source: UniProtKB

GO - Biological processi

  1. visual perception Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Keywords - Ligandi

Heparin-binding

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
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:18362. IMPG2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini23 – 10991077Extracellular Reviewed predictionAdd
BLAST
Transmembranei1100 – 112021Helical; Reviewed predictionAdd
BLAST
Topological domaini1121 – 1241121Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. proteinaceous extracellular matrix Source: UniProtKB
  3. receptor complex Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Maculopathy, IMPG2-related (MACLP-IMPG2) [MIM:613581]: A mild maculopathy characterized by full-field electroretinogram responses within normal limits, normal color vision, elevation of the photoreceptor layer in the foveal region and mild nuclear sclerosis.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti124 – 1241F → L in MACLP-IMPG2. 1 Publication
VAR_064336

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

MIMi613581. phenotype.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA29866.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2222 Reviewed predictionAdd
BLAST
Chaini23 – 12411219Interphotoreceptor matrix proteoglycan 2PRO_0000320149Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi154 – 1541N-linked (GlcNAc...) Reviewed prediction
Glycosylationi190 – 1901O-linked (GalNAc...) Reviewed prediction
Glycosylationi192 – 1921O-linked (GalNAc...) Reviewed prediction
Glycosylationi301 – 3011N-linked (GlcNAc...) Reviewed prediction
Glycosylationi320 – 3201N-linked (GlcNAc...) Reviewed prediction
Glycosylationi370 – 3701N-linked (GlcNAc...) Reviewed prediction
Glycosylationi544 – 5441O-linked (GalNAc...) Reviewed prediction
Glycosylationi556 – 5561O-linked (GalNAc...) Reviewed prediction
Glycosylationi942 – 9421N-linked (GlcNAc...) Reviewed prediction
Glycosylationi956 – 9561N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi1014 ↔ 1025 By similarity
Disulfide bondi1019 ↔ 1036 By similarity
Disulfide bondi1038 ↔ 1050 By similarity
Disulfide bondi1054 ↔ 1067 By similarity
Disulfide bondi1061 ↔ 1077 By similarity
Disulfide bondi1079 ↔ 1092 By similarity

Post-translational modificationi

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

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9BZV3.
PRIDEiQ9BZV3.

PTM databases

PhosphoSiteiQ9BZV3.

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

ArrayExpressiQ9BZV3.
BgeeiQ9BZV3.
CleanExiHS_IMPG2.
GenevestigatoriQ9BZV3.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000193391.

Structurei

3D structure databases

ProteinModelPortaliQ9BZV3.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini239 – 353115SEA 1Add
BLAST
Domaini897 – 1010114SEA 2Add
BLAST
Domaini1010 – 105142EGF-like 1Add
BLAST
Domaini1052 – 109342EGF-like 2Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni259 – 2679Hyaluronan-binding motif involved in chondroitin sulfate A-binding By similarity
Regioni1080 – 10889Hyaluronan-binding motif involved in chondroitin sulfate C-binding By similarity
Regioni1125 – 11339Hyaluronan-binding motif involved in chondroitin sulfate A- and C-binding By similarity
Regioni1136 – 114510Hyaluronan-binding motif involved in chondroitin sulfate C-binding By similarity
Regioni1210 – 12189Hyaluronan-binding motif involved in chondroitin sulfate A- and C-binding motif By similarity

Sequence similaritiesi

Contains 2 EGF-like domains.
Contains 2 SEA domains.

Keywords - Domaini

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

Phylogenomic databases

eggNOGiNOG17485.
HOGENOMiHOG000113064.
HOVERGENiHBG108006.
InParanoidiQ9BZV3.
OMAiWPWSETS.
OrthoDBiEOG7TXKFR.
PhylomeDBiQ9BZV3.
TreeFamiTF331340.

Family and domain databases

Gene3Di3.30.70.960. 2 hits.
InterProiIPR000742. EG-like_dom.
IPR013032. EGF-like_CS.
IPR000082. SEA_dom.
[Graphical view]
PfamiPF01390. SEA. 2 hits.
[Graphical view]
SMARTiSM00200. SEA. 2 hits.
[Graphical view]
SUPFAMiSSF82671. SSF82671. 2 hits.
PROSITEiPS01186. EGF_2. 1 hit.
PS50026. EGF_3. 2 hits.
PS50024. SEA. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Q9BZV3-1 [UniParc]FASTAAdd to Basket

« Hide

MIMFPLFGKI SLGILIFVLI EGDFPSLTAQ TYLSIEEIQE PKSAVSFLLP     50
EESTDLSLAT KKKQPLDRRE TERQWLIRRR RSILFPNGVK ICPDESVAEA 100
VANHVKYFKV RVCQEAVWEA FRTFWDRLPG REEYHYWMNL CEDGVTSIFE 150
MGTNFSESVE HRSLIMKKLT YAKETVSSSE LSSPVPVGDT STLGDTTLSV 200
PHPEVDAYEG ASESSLERPE ESISNEIENV IEEATKPAGE QIAEFSIHLL 250
GKQYREELQD SSSFHHQHLE EEFISEVENA FTGLPGYKEI RVLEFRSPKE 300
NDSGVDVYYA VTFNGEAISN TTWDLISLHS NKVENHGLVE LDDKPTVVYT 350
ISNFRDYIAE TLQQNFLLGN SSLNPDPDSL QLINVRGVLR HQTEDLVWNT 400
QSSSLQATPS SILDNTFQAA WPSADESITS SIPPLDFSSG PPSATGRELW 450
SESPLGDLVS THKLAFPSKM GLSSSPEVLE VSSLTLHSVT PAVLQTGLPV 500
ASEERTSGSH LVEDGLANVE ESEDFLSIDS LPSSSFTQPV PKETIPSMED 550
SDVSLTSSPY LTSSIPFGLD SLTSKVKDQL KVSPFLPDAS MEKELIFDGG 600
LGSGSGQKVD LITWPWSETS SEKSAEPLSK PWLEDDDSLL PAEIEDKKLV 650
LVDKMDSTDQ ISKHSKYEHD DRSTHFPEEE PLSGPAVPIF ADTAAESASL 700
TLPKHISEVP GVDDYSVTKA PLILTSVAIS ASTDKSDQAD AILREDMEQI 750
TESSNYEWFD SEVSMVKPDM QTLWTILPES ERVWTRTSSL EKLSRDILAS 800
TPQSADRLWL SVTQSTKLPP TTISTLLEDE VIMGVQDISL ELDRIGTDYY 850
QPEQVQEQNG KVGSYVEMST SVHSTEMVSV AWPTEGGDDL SYTQTSGALV 900
VFFSLRVTNM MFSEDLFNKN SLEYKALEQR FLELLVPYLQ SNLTGFQNLE 950
ILNFRNGSIV VNSRMKFANS VPPNVNNAVY MILEDFCTTA YNTMNLAIDK 1000
YSLDVESGDE ANPCKFQACN EFSECLVNPW SGEAKCRCFP GYLSVEERPC 1050
QSLCDLQPDF CLNDGKCDIM PGHGAICRCR VGENWWYRGK HCEEFVSEPV 1100
IIGITIASVV GLLVIFSAII YFFIRTLQAH HDRSERESPF SGSSRQPDSL 1150
SSIENAVKYN PVYESHRAGC EKYEGPYPQH PFYSSASGDV IGGLSREEIR 1200
QMYESSELSR EEIQERMRVL ELYANDPEFA AFVREQQVEE V 1241
Length:1,241
Mass (Da):138,621
Last modified:May 18, 2010 - v3
Checksum:iE72D7BFB84824078
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti124 – 1241F → L in MACLP-IMPG2. 1 Publication
VAR_064336
Natural varianti344 – 3441K → N.
Corresponds to variant rs34375459 [ dbSNP | Ensembl ].
VAR_039144
Natural varianti674 – 6741T → I.3 Publications
Corresponds to variant rs571391 [ dbSNP | Ensembl ].
VAR_039145
Natural varianti1013 – 10131P → L.1 Publication
Corresponds to variant rs116450347 [ dbSNP | Ensembl ].
VAR_039146

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti5 – 51P → L in AAF13154. 1 Publication
Sequence conflicti77 – 771I → T in AAF13154. 1 Publication
Sequence conflicti668 – 6681E → V in AAF13154. 1 Publication
Sequence conflicti715 – 7151Y → C in AAF06999. 1 Publication
Sequence conflicti1012 – 10121N → T in AAG49889. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.2. human.

Polymorphism databases

DMDMi296439325.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS2940.1.
RefSeqi NP_057331.2. NM_016247.3.
UniGenei Hs.209249.

3D structure databases

ProteinModelPortali Q9BZV3.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000193391.

PTM databases

PhosphoSitei Q9BZV3.

Polymorphism databases

DMDMi 296439325.

Proteomic databases

PaxDbi Q9BZV3.
PRIDEi Q9BZV3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000193391 ; ENSP00000193391 ; ENSG00000081148 .
GeneIDi 50939.
KEGGi hsa:50939.
UCSCi uc003duq.2. human.

Organism-specific databases

CTDi 50939.
GeneCardsi GC03M100944.
GeneReviewsi IMPG2.
H-InvDB HIX0030730.
HGNCi HGNC:18362. IMPG2.
MIMi 607056. gene.
613581. phenotype.
neXtProti NX_Q9BZV3.
Orphaneti 791. Retinitis pigmentosa.
PharmGKBi PA29866.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG17485.
HOGENOMi HOG000113064.
HOVERGENi HBG108006.
InParanoidi Q9BZV3.
OMAi WPWSETS.
OrthoDBi EOG7TXKFR.
PhylomeDBi Q9BZV3.
TreeFami TF331340.

Miscellaneous databases

GenomeRNAii 50939.
NextBioi 53387.
PROi Q9BZV3.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9BZV3.
Bgeei Q9BZV3.
CleanExi HS_IMPG2.
Genevestigatori Q9BZV3.

Family and domain databases

Gene3Di 3.30.70.960. 2 hits.
InterProi IPR000742. EG-like_dom.
IPR013032. EGF-like_CS.
IPR000082. SEA_dom.
[Graphical view ]
Pfami PF01390. SEA. 2 hits.
[Graphical view ]
SMARTi SM00200. SEA. 2 hits.
[Graphical view ]
SUPFAMi SSF82671. SSF82671. 2 hits.
PROSITEi PS01186. EGF_2. 1 hit.
PS50026. EGF_3. 2 hits.
PS50024. SEA. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular characterization and genomic mapping of human IPM 200, a second member of a novel family of proteoglycans."
    Kuehn M.H., Hageman G.S.
    Mol. Cell Biol. Res. Commun. 2:103-110(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], TISSUE SPECIFICITY, VARIANT ILE-674.
  2. "SPACRCAN, a novel human interphotoreceptor matrix hyaluronan-binding proteoglycan synthesized by photoreceptors and pinealocytes."
    Acharya S., Foletta V.C., Lee J.W., Rayborn M.E., Rodriguez I.R., Young W.S. III, Hollyfield J.G.
    J. Biol. Chem. 275:6945-6955(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 82-86; 123-127 AND 582-593, IDENTIFICATION BY MASS SPECTROMETRY, TISSUE SPECIFICITY, FUNCTION, GLYCOSYLATION, VARIANT ILE-674.
  3. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "Organization of the human IMPG2 gene and its evaluation as a candidate gene in age-related macular degeneration and other retinal degenerative disorders."
    Kuehn M.H., Stone E.M., Hageman G.S.
    Invest. Ophthalmol. Vis. Sci. 42:3123-3129(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ILE-674 AND LEU-1013.
  5. Cited for: VARIANT MACLP-IMPG2 LEU-124, INVOLVEMENT IN RP56.

Entry informationi

Entry nameiIMPG2_HUMAN
AccessioniPrimary (citable) accession number: Q9BZV3
Secondary accession number(s): A8MWT5, Q9UKD4, Q9UKK5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 84 of the entry and version 3 of the sequence. [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

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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