Property Summary

NCBI Gene PubMed Count 27
PubMed Score 66.58
PubTator Score 36.90

Knowledge Summary

Patent (2,912)

TINX Plot

  Disease (3)

Disease Target Count P-value
psoriasis 6685 1.3e-118
non primary Sjogren syndrome sicca 840 1.8e-02
Disease Target Count Z-score Confidence
Blindness 84 3.554 1.8
Cone dystrophy 59 3.325 1.7

Expression

  Differential Expression (2)

Disease log2 FC p
non primary Sjogren syndrome sicca 1.100 1.8e-02
psoriasis 3.800 1.3e-118

Gene RIF (9)

PMID Text
26720471 GARP2 expression in cones can be detrimental to cones. RDS/GARP interactions remain under investigation but are critical for both OS structure and function.
26343373 Helios, and not FoxP3, is the marker of activated Tregs expressing GARP/LAP, and FoxP3+Helios+ Tregs have more suppressive characteristics, compared with FoxP3+Helios- Tregs.
23201897 The p.Arg86Gln mutation actually appears to be a polymorphism common in ethnic West Africans and not associated with RP. This change may provide a useful marker for West African ancestry.
21123569 Deletion of the cyclic nucleotide gated channel CNGB1 alters response waveform but leaves light adaptation intact in a transgenic model.
20801516 Observational study of genetic testing. (HuGE Navigator)
20591486 Observational study of genetic testing. (HuGE Navigator)
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20126465 When expressed in a heterologous expression system the corresponding mutant full-length CNGB1a subunit was more susceptible to proteosomal degradation compared to the wild-type counterpart
19299621 we report targeting of cyclic nucleotide-gated channel(CNG) to rod outer segment required interaction with ankyrin-G; ankyrin-G localized to rod outer segments, coimmunoprecipitated with CNG channel & bound to C-terminal domain of channel beta1 subunit

AA Sequence

MLGWVQRVLPQPPGTPRKTKMQEEEEVEPEPEMEAEVEPEPNPEEAETESESMPPEESFKEEEVAVADPS      1 - 70
PQETKEAALTSTISLRAQGAEISEMNSPSRRVLTWLMKGVEKVIPQPVHSITEDPAQILGHGSTGDTGCT     71 - 140
DEPNEALEAQDTRPGLRLLLWLEQNLERVLPQPPKSSEVWRDEPAVATGAASDPAPPGRPQEMGPKLQAR    141 - 210
ETPSLPTPIPLQPKEEPKEAPAPEPQPGSQAQTSSLPPTRDPARLVAWVLHRLEMALPQPVLHGKIGEQE    211 - 280
PDSPGICDVQTISILPGGQVEPDLVLEEVEPPWEDAHQDVSTSPQGTEVVPAYEEENKAVEKMPRELSRI    281 - 350
EEEKEDEEEEEEEEEEEEEEEVTEVLLDSCVVSQVGVGQSEEDGTRPQSTSDQKLWEEVGEEAKKEAEEK    351 - 420
AKEEAEEVAEEEAEKEPQDWAETKEEPEAEAEAASSGVPATKQHPEVQVEDTDADSCPLMAEENPPSTVL    421 - 490
PPPSPAKSDTLIVPSSASGTHRKKLPSEDDEAEELKALSPAESPVVAWSDPTTPKDTDGQDRAASTASTN    491 - 560
SAIINDRLQELVKLFKERTEKVKEKLIDPDVTSDEESPKPSPAKKAPEPAPDTKPAEAEPVEEEHYCDML    561 - 630
CCKFKHRPWKKYQFPQSIDPLTNLMYVLWLFFVVMAWNWNCWLIPVRWAFPYQTPDNIHHWLLMDYLCDL    631 - 700
IYFLDITVFQTRLQFVRGGDIITDKKDMRNNYLKSRRFKMDLLSLLPLDFLYLKVGVNPLLRLPRCLKYM    701 - 770
AFFEFNSRLESILSKAYVYRVIRTTAYLLYSLHLNSCLYYWASAYQGLGSTHWVYDGVGNSYIRCYYFAV    771 - 840
KTLITIGGLPDPKTLFEIVFQLLNYFTGVFAFSVMIGQMRDVVGAATAGQTYYRSCMDSTVKYMNFYKIP    841 - 910
KSVQNRVKTWYEYTWHSQGMLDESELMVQLPDKMRLDLAIDVNYNIVSKVALFQGCDRQMIFDMLKRLRS    911 - 980
VVYLPNDYVCKKGEIGREMYIIQAGQVQVLGGPDGKSVLVTLKAGSVFGEISLLAVGGGNRRTANVVAHG    981 - 1050
FTNLFILDKKDLNEILVHYPESQKLLRKKARRMLRSNNKPKEEKSVLILPPRAGTPKLFNAALAMTGKMG   1051 - 1120
GKGAKGGKLAHLRARLKELAALEAAAKQQELVEQAKSSQDVKGEEGSAAPDQHTHPKEAATDPPAPRTPP   1121 - 1190
EPPGSPPSSPPPASLGRPEGEEEGPAEPEEHSVRICMSPGPEPGEQILSVKMPEEREEKAE            1191 - 1251
//

Text Mined References (31)

PMID Year Title
26720471 2015 Varying the GARP2-to-RDS Ratio Leads to Defects in Rim Formation and Rod and Cone Function.
26343373 2015 Helios, and not FoxP3, is the marker of activated Tregs expressing GARP/LAP.
24164424 2013 Cyclic nucleotide-gated channel subunit glycosylation regulates matrix metalloproteinase-dependent changes in channel gating.
23201897 2013 The p.Arg86Gln change in GARP2 (glutamic acid-rich protein-2) is a common West African-related polymorphism.
21123569 2010 Channel modulation and the mechanism of light adaptation in mouse rods.
20890309 2010 Growth factor receptor-bound protein 14: a new modulator of photoreceptor-specific cyclic-nucleotide-gated channel.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20591486 2010 Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
20126465 2010 The retinitis pigmentosa mutation c.3444+1G>A in CNGB1 results in skipping of exon 32.
19299621 2009 Ankyrin-G promotes cyclic nucleotide-gated channel transport to rod photoreceptor sensory cilia.
16407240 2006 The glutamic acid-rich protein-2 (GARP2) is a high affinity rod photoreceptor phosphodiesterase (PDE6)-binding protein that modulates its catalytic properties.
16382102 2005 International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels.
16280326 2006 Glutamic acid-rich proteins of rod photoreceptors are natively unfolded.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
15557452 2004 A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.
15195096 2004 Calmodulin permanently associates with rat olfactory CNG channels under native conditions.
12107411 2002 Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts.
12048242 2002 Mechanism of calcium/calmodulin inhibition of rod cyclic nucleotide-gated channels.
11641407 2001 The cGMP-gated channel and related glutamic acid-rich proteins interact with peripherin-2 at the rim region of rod photoreceptor disc membranes.
11379879 2001 Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa.
11074001 2000 Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10.
10717482 2000 Genomic organization of the human rod photoreceptor cGMP-gated cation channel beta-subunit gene.
10466724 1999 Interaction of glutamic-acid-rich proteins with the cGMP signalling pathway in rod photoreceptors.
9535905 1998 Identification of a domain on the beta-subunit of the rod cGMP-gated cation channel that mediates inhibition by calcium-calmodulin.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8766832 1996 The beta subunit of human rod photoreceptor cGMP-gated cation channel is generated from a complex transcription unit.
7682292 1993 A new subunit of the cyclic nucleotide-gated cation channel in retinal rods.
7590744 1995 cDNA, gene structure, and chromosomal localization of human GAR1 (CNCG3L), a homolog of the third subunit of bovine photoreceptor cGMP-gated channel.
7526403 1994 Subunit 2 (or beta) of retinal rod cGMP-gated cation channel is a component of the 240-kDa channel-associated protein and mediates Ca(2+)-calmodulin modulation.
1821816 Stable preparation of aldose reductase isoenzymes from human placenta.