Gene Gene information from NCBI Gene database.
Entrez ID 50939
Gene name Interphotoreceptor matrix proteoglycan 2
Gene symbol IMPG2
Synonyms (NCBI Gene)
IPM200RP56SPACRCANVMD5
Chromosome 3
Chromosome location 3q12.3
Summary 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 photor
SNPs SNP information provided by dbSNP.
29
SNP ID Visualize variation Clinical significance Consequence
rs116450347 G>A Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance Missense variant, coding sequence variant
rs199867882 G>A Pathogenic, likely-pathogenic Coding sequence variant, stop gained
rs201893545 A>G Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs267606874 G>C Pathogenic Coding sequence variant, stop gained
rs267606875 G>A Pathogenic, likely-pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
418
miRTarBase ID miRNA Experiments Reference
MIRT504928 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT504927 hsa-miR-586 HITS-CLIP 21572407
MIRT504926 hsa-miR-190a-3p HITS-CLIP 21572407
MIRT504925 hsa-miR-1277-5p HITS-CLIP 21572407
MIRT504928 hsa-miR-5011-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0005201 Function Extracellular matrix structural constituent TAS 10702256
GO:0005540 Function Hyaluronic acid binding IBA
GO:0005540 Function Hyaluronic acid binding IEA
GO:0005540 Function Hyaluronic acid binding TAS 10702256
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607056 18362 ENSG00000081148
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BZV3
Protein name Interphotoreceptor matrix proteoglycan 2 (Interphotoreceptor matrix proteoglycan of 200 kDa) (IPM 200) (Sialoprotein associated with cones and rods proteoglycan) (Spacrcan)
Protein 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. {ECO:0000269
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01390 SEA 241 338 SEA domain Family
PF01390 SEA 899 999 SEA domain Family
Tissue specificity TISSUE SPECIFICITY: 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). IP
Sequence
MIMFPLFGKISLGILIFVLIEGDFPSLTAQTYLSIEEIQEPKSAVSFLLPEESTDLSLAT
KKKQPLDRRETERQWLIRRRRSILFPNGVKICPDESVAEAVANHVKYFKVRVCQEAVWEA
FRTFWDRLPGREEYHYWMNLCEDGVTSIFEMGTNFSESVEHRSLIMKKLTYAKETVSSSE
LSSPVPVGDTSTLGDTTLSVPHPEVDAYEGASESSLERPEESISNEIENVIEEATKPAGE
QIAEFSIHLLGKQYREELQDSSSFHHQHLEEEFISEVENAFTGLPGYKEIRVLEFRSPKE
NDSGVDVYYAVTFNGEAISNTTWDLISLHSNKVENHGL
VELDDKPTVVYTISNFRDYIAE
TLQQNFLLGNSSLNPDPDSLQLINVRGVLRHQTEDLVWNTQSSSLQATPSSILDNTFQAA
WPSADESITSSIPPLDFSSGPPSATGRELWSESPLGDLVSTHKLAFPSKMGLSSSPEVLE
VSSLTLHSVTPAVLQTGLPVASEERTSGSHLVEDGLANVEESEDFLSIDSLPSSSFTQPV
PKETIPSMEDSDVSLTSSPYLTSSIPFGLDSLTSKVKDQLKVSPFLPDASMEKELIFDGG
LGSGSGQKVDLITWPWSETSSEKSAEPLSKPWLEDDDSLLPAEIEDKKLVLVDKMDSTDQ
ISKHSKYEHDDRSTHFPEEEPLSGPAVPIFADTAAESASLTLPKHISEVPGVDDYSVTKA
PLILTSVAISASTDKSDQADAILREDMEQITESSNYEWFDSEVSMVKPDMQTLWTILPES
ERVWTRTSSLEKLSRDILASTPQSADRLWLSVTQSTKLPPTTISTLLEDEVIMGVQDISL
ELDRIGTDYYQPEQVQEQNGKVGSYVEMSTSVHSTEMVSVAWPTEGGDDLSYTQTSGALV
VFFSLRVTNMMFSEDLFNKNSLEYKALEQRFLELLVPYLQSNLTGFQNLEILNFRNGSIV
VNSRMKFANSVPPNVNNAVYMILEDFCTTAYNTMNLAID
KYSLDVESGDEANPCKFQACN
EFSECLVNPWSGEAKCRCFPGYLSVEERPCQSLCDLQPDFCLNDGKCDIMPGHGAICRCR
VGENWWYRGKHCEEFVSEPVIIGITIASVVGLLVIFSAIIYFFIRTLQAHHDRSERESPF
SGSSRQPDSLSSIENAVKYNPVYESHRAGCEKYEGPYPQHPFYSSASGDVIGGLSREEIR
QMYESSELSREEIQERMRVLELYANDPEFAAFVREQQVEEV
Sequence length 1241
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormality of the eye Pathogenic rs758291149 RCV000504960
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive retinitis pigmentosa Likely pathogenic; Pathogenic rs199867882, rs786205564, rs763295314, rs1707008452, rs1706441535, rs2058802149 RCV001257827
RCV001257825
RCV001257828
RCV001257829
RCV001257826
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl syndrome Likely pathogenic; Pathogenic rs199867882 RCV005625313
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy Likely pathogenic; Pathogenic rs2508989693 RCV003389514
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ADULT-ONSET FOVEOMACULAR VITELLIFORM DYSTROPHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult-onset foveomacular vitelliform dystrophy Foveomacular Vitelliform Dystrophy Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adult-Onset Vitelliform Macular Dystrophy Vitelliform Macular Dystrophy ORPHANET_DG 25085631
★☆☆☆☆
Found in Text Mining only
Adult-Onset Vitelliform Macular Dystrophy Vitelliform Macular Dystrophy CTD_human_DG
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 11726612
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration HPO_DG
★☆☆☆☆
Found in Text Mining only
Cataract Cataract HPO_DG
★☆☆☆☆
Found in Text Mining only
Chorioretinal atrophy Chorioretinal atrophy BEFREE 24876279
★☆☆☆☆
Found in Text Mining only
Choroideremia Choroideremia HPO_DG
★☆☆☆☆
Found in Text Mining only
Conductive hearing loss Hearing Loss HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital hypoplasia of penis Congenital Hypoplasia Of Penis HPO_DG
★☆☆☆☆
Found in Text Mining only