Property Summary

NCBI Gene PubMed Count 9
PubMed Score 8.30
PubTator Score 12.27

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Gene RIF (6)

PMID Text
24780881 A homozygous nonsense CEP250 mutation, in combination with a heterozygous C2orf71 nonsense mutation, causes an atypical form of Usher syndrome, characterised by early-onset sensorineural hearing loss and a relatively mild retinitis pigmentosa.
21412943 Novel C2orf71 mutations account for approximately 1% of cases in a large French arRP cohort.
20811058 C2ORF71 is a highly polymorphic gene (average heterozygosity of coding region in controls: 2.118 x 10(-3)) with many rare variants that confound mutation detection.
20811058 Observational study of gene-disease association. (HuGE Navigator)
20398886 Discovery and functional analysis of a retinitis pigmentosa gene, C2orf71, are reported.
20398884 Mutations in C2orf71 cause autosomal-recessive retinitis pigmentosa.

AA Sequence

MGCTPSHSDLVNSVAKSGIQFLKKPKAIRPGCQGGSERGSIPLLVKNSTCYDAGEGLAEEQPSPRRNQTT      1 - 70
AKGLCQLMGDPASGKRKDMEGLIPGTKTSSSQLNKSQSHMAKDIPFKTQGSHGSQGADFSGDESEESSTQ     71 - 140
DTSKWKRTAKCHTSSTQSHCYQTIHPAHEPEGKVDFPEPLVKAHQQAYTYLHSSLSKYEAILCIIHQATQ    141 - 210
TRELLQPMVSFLLLCFEEISQLLGEISKDGEVLLQEVREDLAWPLKKREPQEQPNLLQQLLQYTVSKLQV    211 - 280
LNGTVASLTGSFLEGSSSYLHSTATHLENKLSTKRNVDERLLRALRQLESLASGCGDPGVQGLPLCSEDS    281 - 350
GIGADNESVQSVDKLGKQTSWDLAPEPEEWKSVTSPHTEARQSGHTWQQSPFCLGSGRPQDCLLSGAPMA    351 - 420
KVQPRAQDEARSPCLSSTSPENITSPPLKLGTSTPCDSFGIGVSVEPHLSKTSRPMDASSLSDSEDSSPE    421 - 490
EEEEDKMSSMSLCAWQEKTPHSRPQSSPADRESPFQARTRRLRSLQAQEMILKMKESISERIKFVPVPCG    491 - 560
HQDWSEEEEGRTVVPPRPSTVSGSRRAPERQTRSQSESCLQSHVEDPTFQELRRVQRDLSQKLEAFYALG    561 - 630
AKGQGQSQEQILQPRAAAVWPNGTCRVSPSNTTSRLKASLTKNFSILPSQDKSILQKCNPHPEDEQGKAG    631 - 700
KLPNAIPSGEVSEAAKATDWNVRGCPTRTSVKKLIETFSPTESLRMLGDSKDAGASPCLRNCIMPPRFPK    701 - 770
YTGLAPLYPKPQISPASGRESLKMGIGWKPLAPIFPPLPKAEAAKSEELSCEMEGNLEHLPPPPMEVLMD    771 - 840
KSFASLESPESSKSTENSPKETQEPGPGEAGPTRRTWASPKLRASVSPLDLLPSKSTASLTKPHSTGPGS    841 - 910
GRSSCQPRKPALDLSSPPATSQSPEVKGGTWSQAEKATSLYRQPRKAIAWHHSGPPSGQNRTSESSLARP    911 - 980
RQSRERSPPVGRKASPTRTHWVPQADKRRRSLPSSYRPAQPSPSAVQTPPSPPVSPRVLSPPTTKRRTSP    981 - 1050
PHQPKLPNPPPESAPAQCKVPSPPTQHPEASPPFSIPSPSPPMSPSQEHKETRDSEDSQAVIAKVSGNTH   1051 - 1120
SIFCPATSSLFEAKPPLSTAHPLTPPSLPPEAGGPLGNPAECWKNSSGPWLRADSQRRAALCALNPLPFL   1121 - 1190
RRTASDRQPGGRPQPPTLDPTSTSYESQLGQNSSSEESPKKDTEPGSSPCSPELQGGTRRASPPEFCVLG   1191 - 1260
HGLQPEPRTGHIQDKSQPEAQPQQEEVS                                             1261 - 1288
//

Text Mined References (9)

PMID Year Title
24780881 2014 A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.
21412943 2011 Novel C2orf71 mutations account for ?1% of cases in a large French arRP cohort.
20811058 2011 A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls.
20398886 2010 Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.
20398884 2010 Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.
20125088 2011 Genome-wide association study of recurrent early-onset major depressive disorder.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.