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Entry version 125 (22 Apr 2020)
Sequence version 3 (18 May 2010)
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Protein

Interphotoreceptor matrix proteoglycan 2

Gene

IMPG2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHeparin-binding, Receptor

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:IMPG2
Synonyms:IPM200
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18362 IMPG2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
607056 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9BZV3

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini23 – 1099ExtracellularSequence analysisAdd BLAST1077
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei1100 – 1120HelicalSequence analysisAdd BLAST21
Topological domaini1121 – 1241CytoplasmicSequence analysisAdd BLAST121

Keywords - Cellular componenti

Cell projection, Extracellular matrix, Membrane, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Retinitis pigmentosa 56 (RP56)2 Publications
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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_082176127 – 1241Missing in RP56. 1 PublicationAdd BLAST1115
Natural variantiVAR_082177171 – 1241Missing in RP56. 1 PublicationAdd BLAST1071
Natural variantiVAR_082178212 – 1241Missing in RP56. 1 PublicationAdd BLAST1030
Natural variantiVAR_082181296 – 302Missing in RP56. 1 Publication7
Natural variantiVAR_082184560 – 1241Missing in RP56. 1 PublicationAdd BLAST682
Natural variantiVAR_082186906 – 1241Missing in RP56. 1 PublicationAdd BLAST336
Natural variantiVAR_082187964 – 1241Missing in RP56. 1 PublicationAdd BLAST278
Natural variantiVAR_0821911088 – 1241Missing in RP56. 1 PublicationAdd BLAST154
Macular dystrophy, vitelliform, 5 (VMD5)3 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064336124F → L in VMD5. 1 PublicationCorresponds to variant dbSNP:rs201893545EnsemblClinVar.1
Natural variantiVAR_082179226 – 1241Missing in VMD5. 1 PublicationAdd BLAST1016
Natural variantiVAR_082183522 – 1241Missing in VMD5. 1 PublicationAdd BLAST720
Natural variantiVAR_082185856 – 1241Missing in VMD5. 1 PublicationAdd BLAST386
Natural variantiVAR_0726711077C → F in VMD5. 2 PublicationsCorresponds to variant dbSNP:rs713993049EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...
DisGeNETi
50939

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
IMPG2

MalaCards human disease database

More...
MalaCardsi
IMPG2
MIMi613581 phenotype
616152 phenotype

Open Targets

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OpenTargetsi
ENSG00000081148

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
99000 Adult-onset foveomacular vitelliform dystrophy
791 Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29866

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9BZV3 Tbio

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB08818 Hyaluronic acid

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
IMPG2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296439325

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 22Sequence analysisAdd BLAST22
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000032014923 – 1241Interphotoreceptor matrix proteoglycan 2Add BLAST1219

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>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
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

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

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9BZV3

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9BZV3

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9BZV3

PeptideAtlas

More...
PeptideAtlasi
Q9BZV3

PRoteomics IDEntifications database

More...
PRIDEi
Q9BZV3

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
79907

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9BZV3

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9BZV3

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in the retina (at protein level) (PubMed:10702256, PubMed:29777959). Expressed by photoreceptors of the interphotoreceptor matrix (IPM) surrounding both rods and cones (at protein level) (PubMed:10542133, PubMed:29777959). IPM occupies the subretinal space between the apices of the retinal pigment epithelium and the neural retina (PubMed:10542133). Expressed in the pineal gland (at protein level) (PubMed:10702256).3 Publications

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed in the retina 17 weeks post-conception (at protein level) (PubMed:29777959). Expressed in the outer neuroblastic zone and retinal pigment epithelium (at protein level) (PubMed:29777959).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000081148 Expressed in oviduct epithelium and 39 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9BZV3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9BZV3 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000081148 Tissue enriched (retina)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000193391

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9BZV3 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9BZV3

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>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
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IH0G Eukaryota
ENOG410Y9FF LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00530000063503

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_005111_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9BZV3

KEGG Orthology (KO)

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KOi
K19017

Identification of Orthologs from Complete Genome Data

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OMAi
FVREHQI

Database of Orthologous Groups

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OrthoDBi
112459at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9BZV3

TreeFam database of animal gene trees

More...
TreeFami
TF331340

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.30.70.960, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR039861 IMPG
IPR032975 IMPG2
IPR000082 SEA_dom
IPR036364 SEA_dom_sf

The PANTHER Classification System

More...
PANTHERi
PTHR12199 PTHR12199, 1 hit
PTHR12199:SF4 PTHR12199:SF4, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01390 SEA, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00200 SEA, 2 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF82671 SSF82671, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01186 EGF_2, 1 hit
PS50026 EGF_3, 2 hits
PS50024 SEA, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iE72D7BFB84824078
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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_082176127 – 1241Missing in RP56. 1 PublicationAdd BLAST1115
Natural variantiVAR_082177171 – 1241Missing in RP56. 1 PublicationAdd BLAST1071
Natural variantiVAR_082178212 – 1241Missing in RP56. 1 PublicationAdd BLAST1030
Natural variantiVAR_082179226 – 1241Missing in VMD5. 1 PublicationAdd BLAST1016
Natural variantiVAR_082180243A → P Found in a patient with vitelliform macular dystrophy; unknown pathological significance. 1 Publication1
Natural variantiVAR_082181296 – 302Missing in RP56. 1 Publication7
Natural variantiVAR_039144344K → N. Corresponds to variant dbSNP:rs34375459Ensembl.1
Natural variantiVAR_082182379S → P Found in a patient with retinitis pigmentosa; unknown pathological significance. 1 Publication1
Natural variantiVAR_082183522 – 1241Missing in VMD5. 1 PublicationAdd BLAST720
Natural variantiVAR_082184560 – 1241Missing in RP56. 1 PublicationAdd BLAST682
Natural variantiVAR_039145674T → I3 PublicationsCorresponds to variant dbSNP:rs571391EnsemblClinVar.1
Natural variantiVAR_082185856 – 1241Missing in VMD5. 1 PublicationAdd BLAST386
Natural variantiVAR_082186906 – 1241Missing in RP56. 1 PublicationAdd BLAST336
Natural variantiVAR_082187964 – 1241Missing in RP56. 1 PublicationAdd BLAST278
Natural variantiVAR_0821881008G → D Found in a patient with vitelliform macular dystrophy; unknown pathological significance. 1 Publication1
Natural variantiVAR_0391461013P → L1 PublicationCorresponds to variant dbSNP:rs116450347EnsemblClinVar.1
Natural variantiVAR_0821891016F → S Found in a patient with VMD5; unknown pathological significance. 1 Publication1
Natural variantiVAR_0821901042Y → C Found in a patient with vitelliform macular dystophy; unknown pathological significance. 1 Publication1
Natural variantiVAR_0726711077C → F in VMD5. 2 PublicationsCorresponds to variant dbSNP:rs713993049EnsemblClinVar.1
Natural variantiVAR_0821911088 – 1241Missing in RP56. 1 PublicationAdd BLAST154

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF173155 mRNA Translation: AAF06999.1
AF271379 AF271378 Genomic DNA Translation: AAG49889.1
AF157624 mRNA Translation: AAF13154.1
AC068764 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

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CCDSi
CCDS2940.1

NCBI Reference Sequences

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RefSeqi
NP_057331.2, NM_016247.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000193391; ENSP00000193391; ENSG00000081148

Database of genes from NCBI RefSeq genomes

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GeneIDi
50939

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:50939

UCSC genome browser

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UCSCi
uc003duq.3 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF173155 mRNA Translation: AAF06999.1
AF271379 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

3D structure databases

SMRiQ9BZV3
ModBaseiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000193391

Chemistry databases

DrugBankiDB08818 Hyaluronic acid

PTM databases

iPTMnetiQ9BZV3
PhosphoSitePlusiQ9BZV3

Polymorphism and mutation databases

BioMutaiIMPG2
DMDMi296439325

Proteomic databases

jPOSTiQ9BZV3
MassIVEiQ9BZV3
PaxDbiQ9BZV3
PeptideAtlasiQ9BZV3
PRIDEiQ9BZV3
ProteomicsDBi79907

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
32271 46 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
50939
DisGeNETi50939

GeneCards: human genes, protein and diseases

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GeneCardsi
IMPG2
GeneReviewsiIMPG2
HGNCiHGNC:18362 IMPG2
HPAiENSG00000081148 Tissue enriched (retina)
MalaCardsiIMPG2
MIMi607056 gene
613581 phenotype
616152 phenotype
neXtProtiNX_Q9BZV3
OpenTargetsiENSG00000081148
Orphaneti99000 Adult-onset foveomacular vitelliform dystrophy
791 Retinitis pigmentosa
PharmGKBiPA29866

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IH0G Eukaryota
ENOG410Y9FF LUCA
GeneTreeiENSGT00530000063503
HOGENOMiCLU_005111_0_0_1
InParanoidiQ9BZV3
KOiK19017
OMAiFVREHQI
OrthoDBi112459at2759
PhylomeDBiQ9BZV3
TreeFamiTF331340

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
IMPG2 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
50939
PharosiQ9BZV3 Tbio

Protein Ontology

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PROi
PR:Q9BZV3
RNActiQ9BZV3 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000081148 Expressed in oviduct epithelium and 39 other tissues
ExpressionAtlasiQ9BZV3 baseline and differential
GenevisibleiQ9BZV3 HS

Family and domain databases

Gene3Di3.30.70.960, 1 hit
InterProiView protein in InterPro
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR039861 IMPG
IPR032975 IMPG2
IPR000082 SEA_dom
IPR036364 SEA_dom_sf
PANTHERiPTHR12199 PTHR12199, 1 hit
PTHR12199: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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiIMPG2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BZV3
Secondary accession number(s): A8MWT5, Q9UKD4, Q9UKK5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: May 18, 2010
Last modified: April 22, 2020
This is version 125 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Direct protein sequencing, Reference proteome

Documents

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