IMPG2
Interphotoreceptor matrix proteoglycan 2
Also known as: IMPG2_HUMAN, IPM200, RP56, SPACRCAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BZV3
- Gene
- IMPG2
- Ensembl
- ENSG00000081148
- Chromosome
- 3
- Canonical length
- 1241 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted membrane proteins, Predicted secreted proteins
- Secretome location
- Secreted in other tissues
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
1241 residues, UniProt reviewed canonical sequence.
>Q9BZV3|IMPG2
1 MIMFPLFGKI SLGILIFVLI EGDFPSLTAQ TYLSIEEIQE PKSAVSFLLP EESTDLSLAT
61 KKKQPLDRRE TERQWLIRRR RSILFPNGVK ICPDESVAEA VANHVKYFKV RVCQEAVWEA
121 FRTFWDRLPG REEYHYWMNL CEDGVTSIFE MGTNFSESVE HRSLIMKKLT YAKETVSSSE
181 LSSPVPVGDT STLGDTTLSV PHPEVDAYEG ASESSLERPE ESISNEIENV IEEATKPAGE
241 QIAEFSIHLL GKQYREELQD SSSFHHQHLE EEFISEVENA FTGLPGYKEI RVLEFRSPKE
301 NDSGVDVYYA VTFNGEAISN TTWDLISLHS NKVENHGLVE LDDKPTVVYT ISNFRDYIAE
361 TLQQNFLLGN SSLNPDPDSL QLINVRGVLR HQTEDLVWNT QSSSLQATPS SILDNTFQAA
421 WPSADESITS SIPPLDFSSG PPSATGRELW SESPLGDLVS THKLAFPSKM GLSSSPEVLE
481 VSSLTLHSVT PAVLQTGLPV ASEERTSGSH LVEDGLANVE ESEDFLSIDS LPSSSFTQPV
541 PKETIPSMED SDVSLTSSPY LTSSIPFGLD SLTSKVKDQL KVSPFLPDAS MEKELIFDGG
601 LGSGSGQKVD LITWPWSETS SEKSAEPLSK PWLEDDDSLL PAEIEDKKLV LVDKMDSTDQ
661 ISKHSKYEHD DRSTHFPEEE PLSGPAVPIF ADTAAESASL TLPKHISEVP GVDDYSVTKA
721 PLILTSVAIS ASTDKSDQAD AILREDMEQI TESSNYEWFD SEVSMVKPDM QTLWTILPES
781 ERVWTRTSSL EKLSRDILAS TPQSADRLWL SVTQSTKLPP TTISTLLEDE VIMGVQDISL
841 ELDRIGTDYY QPEQVQEQNG KVGSYVEMST SVHSTEMVSV AWPTEGGDDL SYTQTSGALV
901 VFFSLRVTNM MFSEDLFNKN SLEYKALEQR FLELLVPYLQ SNLTGFQNLE ILNFRNGSIV
961 VNSRMKFANS VPPNVNNAVY MILEDFCTTA YNTMNLAIDK YSLDVESGDE ANPCKFQACN
1021 EFSECLVNPW SGEAKCRCFP GYLSVEERPC QSLCDLQPDF CLNDGKCDIM PGHGAICRCR
1081 VGENWWYRGK HCEEFVSEPV IIGITIASVV GLLVIFSAII YFFIRTLQAH HDRSERESPF
1141 SGSSRQPDSL SSIENAVKYN PVYESHRAGC EKYEGPYPQH PFYSSASGDV IGGLSREEIR
1201 QMYESSELSR EEIQERMRVL ELYANDPEFA AFVREQQVEE VLocalizationUniProt · AlphaFold · HPA
Whether an antibody against IMPG2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.56
- Highest tissue expression
- 283 nTPM
Expression across tissuesHPA
Tissue
- retina: 283 nTPM
- fallopian tube: 9.1 nTPM
- choroid plexus: 2.1 nTPM
- kidney: 0.3 nTPM
- appendix: 0.2 nTPM
- blood vessel: 0.2 nTPM
Single-cell type
- rod photoreceptor cells: 741 nCPM
- cone photoreceptor cells: 725 nCPM
- thymocytes: 36 nCPM
- retinal ganglion cells: 27 nCPM
- ependymal cells: 23 nCPM
- retinal bipolar cells: 22 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- choroid plexus: 4.7 nTPM
- hypothalamus: 3.1 nTPM
- pons: 3.1 nTPM
- medulla oblongata: 2.2 nTPM
- midbrain: 1.6 nTPM
- thalamus: 1.6 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about IMPG2.
Disease | AllUniProt
Conditions IMPG2 is implicated in, by any mechanism.
- Retinitis pigmentosa 56 (RP56) MIM:613581
- Macular dystrophy, vitelliform, 5 (VMD5) MIM:616152
Disease | GeneticClinVar
143 pathogenic / likely-pathogenic of 1,088 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Retinal dystrophy
- Retinitis pigmentosa 56
- Retinitis pigmentosa
- Vitelliform macular dystrophy 5
- Autosomal recessive retinitis pigmentosa
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.72
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.21
- DepMap mean gene effect
- 0.04
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- extracellular matrix organization
- intracellular protein localization
- retina morphogenesis in camera-type eye
- visual perception
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads IMPG2 as an antibody target. Whether an autoantibody or antibody against IMPG2 could matter depends on whether native IMPG2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
IMPG2 is annotated as secreted, so native IMPG2 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label IMPG2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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