Property Summary

NCBI Gene PubMed Count 14
Grant Count 9
R01 Count 5
Funding $673,743.79
PubMed Score 18.17
PubTator Score 16.23

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
oligodendroglioma 1.500 0.026
psoriasis -2.300 0.000
cutaneous lupus erythematosus -4.000 0.001
medulloblastoma, large-cell 3.300 0.001
active ulcerative colitis -2.164 0.026
group 3 medulloblastoma 4.600 0.000
pituitary cancer 1.600 0.004

Gene RIF (9)

PMID Text
26350383 we delineate the retinal pathology of two families segregating autosomal recessive retinal dystrophy due to two previously undescribed mutations in CDHR1.
24265541 Lack of CDHR1 in the human retina causes symptoms related to cone photoreceptor dysfunction.
23233793 A novel splice site mutation of CDHR1, c.1485+2T>G, underlying autosomal recessive cone-rod dystrophy has been described in a consanguineous Israeli Christian Arab family.
23044944 High-resolution retinal imaging revealed outer retinal changes suggesting that CDHR1 is important for normal photoreceptor structure and survival.
20805371 To our knowledge, this is the first report of mutations in PCDH21 as a cause of human disease, autosomal recessive cone-rod dystrophy.
20087419 Biallelic mutations in the photoreceptor-specific gene PCDH21 cause recessive retinal degeneration in humans.
16385451 Observational study of gene-disease association. (HuGE Navigator)
16288196 Observational study of gene-disease association. (HuGE Navigator)
16288196 PCDH21 mutations are not a major cause of the retinal diseases investigated herein, and the corresponding human phenotype remains to be determined.

AA Sequence

MRRCRWAALALGLLRLCLAQANFAPHFFDNGVGSTNGNMALFSLPEDTPVGSHVYTLNGTDPEGDPISYH      1 - 70
ISFDPSTRSVFSVDPTFGNITLVEELDREREDEIEAIISISDGLNLVAEKVVILVTDANDEAPRFIQEPY     71 - 140
VALVPEDIPAGSIIFKVHAVDRDTGSGGSVTYFLQNLHSPFAVDRHSGVLRLQAGATLDYERSRTHYITV    141 - 210
VAKDGGGRLHGADVVFSATTTVTVNVEDVQDMAPVFVGTPYYGYVYEDTLPGSEVLKVVAMDGDRGKPNR    211 - 280
ILYSLVNGNDGAFEINETSGAISITQSPAQLQREVYELHVQVTEMSPAGSPAAQATVPVTIRIVDLNNHP    281 - 350
PTFYGESGPQNRFELSMNEHPPQGEILRGLKITVNDSDQGANAKFNLQLVGPRGIFRVVPQTVLNEAQVT    351 - 420
IIVENSAAIDFEKSKVLTFKLLAVEVNTPEKFSSTADVVIQLLDTNDNVPKFDSLYYVARIPENAPGGSS    421 - 490
VVAVTAVDPDTGPWGEVKYSTYGTGADLFLIHPSTGLIYTQPWASLDAEATARYNFYVKAEDMEGKYSVA    491 - 560
EVFITLLDVNDHPPQFGKSVQKKTMVLGTPVKIEAIDEDAEEPNNLVDYSITHAEPANVFDINSHTGEIW    561 - 630
LKNSIRSLDALHNITPGRDCLWSLEVQAKDRGSPSFSTTALLKIDITDAETLSRSPMAAFLIQTKDNPMK    631 - 700
AVGVLAGTMATVVAITVLISTATFWRNKKSNKVLPMRRVLRKRPSPAPRTIRIEWLKSKSTKAATKFMLK    701 - 770
EKPPNENCNNNSPESSLLPRAPALPPPPSVAPSTGAAQWTVPTVSGSLTPQPTQPPPKPKTMGSPVQSTL    771 - 840
ISELKQKFEKKSVHNKAYF                                                       841 - 859
//

Text Mined References (18)

PMID Year Title
26350383 2015 Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.
24265541 2013 Clinical characteristics of early retinal disease due to CDHR1 mutation.
23233793 2012 A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.
23044944 2012 Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration.
21697133 2011 Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.
20805371 2010 Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy.
20498078 2010 Structure of the N terminus of cadherin 23 reveals a new adhesion mechanism for a subset of cadherin superfamily members.
20087419 2010 Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans.
18654668 2008 Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
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