Property Summary

NCBI Gene PubMed Count 12
PubMed Score 15.57
PubTator Score 12.75

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
medulloblastoma, large-cell 6.000 0.000
group 3 medulloblastoma 3.700 0.000

Synonym

Accession Q9BZV3 A8MWT5 Q9UKD4 Q9UKK5
Symbols RP56
VMD5
IPM200
SPACRCAN

Gene

Gene RIF (4)

PMID Text
25085631 IMPG1 and IMPG2 are new causal genes of vitelliform dystrophy, involved in 8% of our families.
24876279 Mutations in IMPG2 cause a severe form of retinitis pigmentosa with symptoms manifesting in the first 2 decades of life.
20673862 identification of IMPG2 mutations in autosomal-recessive retinitis pigmentosa; data show that mutations in a structural component of the interphotoreceptor matrix can cause autosomal-recessive retinitis pigmentosa
10542133 IPM 200 represents the second member of a novel family of retinal proteoglycans suspected to be involved in retinal adhesion and photoreceptor cell survival

AA Sequence

MIMFPLFGKISLGILIFVLIEGDFPSLTAQTYLSIEEIQEPKSAVSFLLPEESTDLSLATKKKQPLDRRE      1 - 70
TERQWLIRRRRSILFPNGVKICPDESVAEAVANHVKYFKVRVCQEAVWEAFRTFWDRLPGREEYHYWMNL     71 - 140
CEDGVTSIFEMGTNFSESVEHRSLIMKKLTYAKETVSSSELSSPVPVGDTSTLGDTTLSVPHPEVDAYEG    141 - 210
ASESSLERPEESISNEIENVIEEATKPAGEQIAEFSIHLLGKQYREELQDSSSFHHQHLEEEFISEVENA    211 - 280
FTGLPGYKEIRVLEFRSPKENDSGVDVYYAVTFNGEAISNTTWDLISLHSNKVENHGLVELDDKPTVVYT    281 - 350
ISNFRDYIAETLQQNFLLGNSSLNPDPDSLQLINVRGVLRHQTEDLVWNTQSSSLQATPSSILDNTFQAA    351 - 420
WPSADESITSSIPPLDFSSGPPSATGRELWSESPLGDLVSTHKLAFPSKMGLSSSPEVLEVSSLTLHSVT    421 - 490
PAVLQTGLPVASEERTSGSHLVEDGLANVEESEDFLSIDSLPSSSFTQPVPKETIPSMEDSDVSLTSSPY    491 - 560
LTSSIPFGLDSLTSKVKDQLKVSPFLPDASMEKELIFDGGLGSGSGQKVDLITWPWSETSSEKSAEPLSK    561 - 630
PWLEDDDSLLPAEIEDKKLVLVDKMDSTDQISKHSKYEHDDRSTHFPEEEPLSGPAVPIFADTAAESASL    631 - 700
TLPKHISEVPGVDDYSVTKAPLILTSVAISASTDKSDQADAILREDMEQITESSNYEWFDSEVSMVKPDM    701 - 770
QTLWTILPESERVWTRTSSLEKLSRDILASTPQSADRLWLSVTQSTKLPPTTISTLLEDEVIMGVQDISL    771 - 840
ELDRIGTDYYQPEQVQEQNGKVGSYVEMSTSVHSTEMVSVAWPTEGGDDLSYTQTSGALVVFFSLRVTNM    841 - 910
MFSEDLFNKNSLEYKALEQRFLELLVPYLQSNLTGFQNLEILNFRNGSIVVNSRMKFANSVPPNVNNAVY    911 - 980
MILEDFCTTAYNTMNLAIDKYSLDVESGDEANPCKFQACNEFSECLVNPWSGEAKCRCFPGYLSVEERPC    981 - 1050
QSLCDLQPDFCLNDGKCDIMPGHGAICRCRVGENWWYRGKHCEEFVSEPVIIGITIASVVGLLVIFSAII   1051 - 1120
YFFIRTLQAHHDRSERESPFSGSSRQPDSLSSIENAVKYNPVYESHRAGCEKYEGPYPQHPFYSSASGDV   1121 - 1190
IGGLSREEIRQMYESSELSREEIQERMRVLELYANDPEFAAFVREQQVEEV                      1191 - 1241
//

Text Mined References (12)

PMID Year Title
25085631 2014 Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.
24876279 2014 IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.
23382219 2013 Structural basis for endosomal trafficking of diverse transmembrane cargos by PX-FERM proteins.
21697133 2011 Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.
20673862 2010 Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.
17286855 2007 Mapping of transcription start sites of human retina expressed genes.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11726612 2001 Organization of the human IMPG2 gene and its evaluation as a candidate gene in age-related macular degeneration and other retinal degenerative disorders.
10702256 2000 SPACRCAN, a novel human interphotoreceptor matrix hyaluronan-binding proteoglycan synthesized by photoreceptors and pinealocytes.
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