Property Summary

NCBI Gene PubMed Count 27
Grant Count 230
R01 Count 99
Funding $74,277,088.5
PubMed Score 789.03
PubTator Score 50.75

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q6T4R5 B7ZVX8 E2DH69 Q5J7Q0 Q5J7Q1 Q68DR5
Symbols CXN
SCML1
CTRCT40

Gene

NHS

Gene RIF (16)

PMID Text
25266737 Our findings broaden the spectrum of NHS mutations causing Nance-Horan syndrome and phenotypic spectrum of the disease in Chinese patients.
25091991 A nonsense mutation c.322G>T (E108X) co-segregated with the disease in a family. Multiple sequence alignments showed that codon 108, where the mutation (c.322G>T) occurred, was located within a phylogenetically conserved region.
24968223 mutations in NHS are the common cause of congenital cataract
23566852 Identification of a previously unreported frameshift mutation (c.558insA) in exon 1 of the NHS gene in a Turkish family with Nance-Horan Syndrome.
22229851 Lens opacities centered around the posterior Y-suture in the context of certain facial features were sensitive and specific clinical signs of carrier status for NHS mutation in asymptomatic females.
21559051 Direct sequencing of NHS sequences in a Tunisian family identified the first missense mutation (P551S) and a reported SNP-polymorphism (L1319F) in exon 6, a reported UTR-SNP (c.7422 C>T) and a novel one (c.8239 T>A) in exon 8.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20332100 these data identify NHS as a new regulator of actin remodelling.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19414485 Four novel protein truncation mutations and a large deletion of the NHS gene lead to Nance-Horan syndrome.
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AA Sequence

MPFAKRIVEPQWLCRQRRPAPGPAVDASGGSAEPPPPLQPPGRRDLDEVEAPGPEEPARAVPAPSGLPPP      1 - 70
PPPLPAPADQTQPPHGEASVAGEESTAGIPEAAPAAGEASSAAAAAAVLLMLDLCAVSNAALARVLRQLS     71 - 140
DVARHACSLFQELESDIQLTHRRVWALQGKLGGVQRVLSTLDPKQEAVPVSNLDIESKLSVYYRAPWHQQ    141 - 210
RNIFLPATRPPCVEELHRHARQSLQALRREHRSRSDRREQRAAAPLSIAAPPLPAYPPAHSQRRREFKDR    211 - 280
HFLTFNSTRSPSPTECCHMTPWSRKSHPPEDEDTDVMLGQRPKNPIHNIPSTLDKQTNWSKALPLPTPEE    281 - 350
KMKQDAQVISSCIIPINVTGVGFDREASIRCSLVHSQSVLQRRRKLRRRKTISGIPRRVQQEIDSDESPV    351 - 420
ARERNVIVHTNPDPSNTVNRISGTRDSECQTEDILIAAPSRRRIRAQRGQSIAASLSHSAGNISALADKG    421 - 490
DTMFTPAVSSRTRSRSLPREGNRGGDAEPKVGAKPSAYEEGESFVGDHERTPNDFSEAPSSPSAQDHQPT    491 - 560
LGLACSQHLHSPQHKLSERGRSRLSRMAADSGSCDISSNSDTFGSPIHCISTAGVLLSSHMDQKDDHQSS    561 - 630
SGNWSGSSSTCPSQTSETIPPAASPPLTGSSHCDSELSLNTAPHANEDASVFVTEQYNDHLDKVRGHRAN    631 - 700
SFTSTVADLLDDPNNSNTSDSEWNYLHHHHDASCRQDFSPERPKADSLGCPSFTSMATYDSFLEKSPSDK    701 - 770
ADTSSHFSVDTEGYYTSMHFDCGLKGNKSYVCHYAALGPENGQGVGASPGLPDCAWQDYLDHKRQGRPSI    771 - 840
SFRKPKAKPTPPKRSSSLRKSDGNADISEKKEPKISSGQHLPHSSREMKLPLDFANTPSRMENANLPTKQ    841 - 910
EPSWINQSEQGIKEPQLDASDIPPFKDEVAESTHYADLWLLNDLKTNDPYRSLSNSSTATGTTVIECIKS    911 - 980
PESSESQTSQSESRATTPSLPSVDNEFKLASPEKLAGLASPSSGYSSQSETPTSSFPTAFFSGPLSPGGS    981 - 1050
KRKPKVPERKSSLQQPSLKDGTISLSKDLELPIIPPTHLDLSALHNVLNKPFHHRHPLHVFTHNKQNTVG   1051 - 1120
ETLRSNPPPSLAITPTILKSVNLRSINKSEEVKQKEENNTDLPYLEESTLTTAALSPSKIRPHTANKSVS   1121 - 1190
RQYSTEDTILSFLDSSAVEMGPDKLHLEKNSTFDVKNRCDPETITSAGSSLLDSNVTKDQVRTETEPIPE   1191 - 1260
NTPTKNCAFPTEGFQRVSAARPNDLDGKIIQYGPGPDETLEQVQKAPSAGLEEVAQPESVDVITSQSDSP   1261 - 1330
TRATDVSNQFKHQFVMSRHHDKVPGTISYESEITSVNSFPEKCSKQENIASGISAKSASDNSKAEETQGN   1331 - 1400
VDEASLKESSPSDDSIISPLSEDSQAEAEGVFVSPNKPRTTEDLFAVIHRSKRKVLGRKDSGDMSVRSKS   1401 - 1470
RAPLSSSSSSASSITSPSSNVTTPNSQRSPGLIYRNAKKSNTSNEEFKLLLLKKGSRSDSSYRMSATEIL   1471 - 1540
KSPILPKPPGELTAESPQSTDDAHQGSQGAEALSPLSPCSPRVNAEGFSSKSFATSASARVGRSRAPPAA   1541 - 1610
SSSRYSVRCRLYNTPMQAISEGETENSDGSPHDDRSSQSST                                1611 - 1651
//

Text Mined References (34)

PMID Year Title
26566883 2016 Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
25266737 2015 Identification of a novel NHS mutation in a Chinese family with Nance-Horan syndrome.
25091991 2014 Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing.
24968223 2014 Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.
23566852 2013 A Turkish family with Nance-Horan Syndrome due to a novel mutation.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23092983 2012 Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.
22544364 2012 A genome-wide association study identifies susceptibility loci for Wilms tumor.
22229851 2012 Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).
21559051 2011 The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.
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