Property Summary

NCBI Gene PubMed Count 9
PubMed Score 3.55
PubTator Score 1.24

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
medulloblastoma, large-cell 2.300 0.000
group 4 medulloblastoma 1.400 0.020

Synonym

Accession Q5T4T6 A6NDS5 Q08GK5 Q6ZRM2 Q96EJ2 SCP-2-like
Symbols NO145
C6orf177
dJ62D2.1

Gene

Gene RIF (2)

PMID Text
26362258 We find that a human SYCP2L intronic single nucleotide polymorphism (SNP) rs2153157, which is associated with ANM, changes the splicing efficiency of U12-type minor introns
19448621 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)

AA Sequence

MQAKNKDALQPIKEDRTGKAQDDAFWLQSLITDAFHDKGFQKIKEYFQQKESHFPQKYNRLLLYRLDRSI      1 - 70
NKELDKNEFQSVSLLLKCIQRFLVDGLKEDEPLLIRQGLIPKLVSWFERTTGILTSEGLASDTSLICVIE     71 - 140
DFFDTALIISRSSSEGKIQMLDSFLLSLGFLVTEKTVNHLLQQEGLKTFNCILHAVPREERKKFPLSEGM    141 - 210
CHLMKDLARTLLTVGDYDQQVAISEALCRLTIKKSRDELVHKWFDDEVIAEAFKEIKDREFETDSRRFLN    211 - 280
HLNNRLGDQRRVYSFPCIAAFADEHEMRKPADEKLEKFWIDFNLGSQSVTFYIDNAENTLWDSVTLPKEA    281 - 350
VMNFSITETEKIKIFIIYLKKPMIISYKEVMKIEIHFDLQFNISQVSIQALGEDKQMLPDQTKISSELFS    351 - 420
KSDKEDRESPSGLERETEQAEESTNMVEFMSAEDDRCLITLHLNDQSEPPVIGEPASDSHLQPVPPFGVP    421 - 490
DFPQQPKSHYRKHLFSESNQDSSTSELSWTSNQKKKSLKSYSSRKKTRTRSNLRILPVFPPSSGSGHEKD    491 - 560
QAKLLSPSEKEIPEQNNTTSPKTSEQKFQDSFAFLTAEDSAQKTELQDPHSLSELSSLKHSEDEEKPKIV    561 - 630
NQESLTESTSLKHKLRNLEDKDIPEGSFAKSQQSRLEEEVAPGSPFSITEERELPEGISTSSLEVVPENL    631 - 700
NGSAILPTFENFTKKRKRKYELRYRKRPFNSENAKKAPDCLIKLLNQMQLFRLNKLERFQNLVLQELSSL    701 - 770
KQDIQALEHLEKEVLEFWGKQSADLQSFCDLQVLRFNSTQTS                                771 - 812
//

Text Mined References (14)

PMID Year Title
26362258 2015 Accelerated reproductive aging in females lacking a novel centromere protein SYCP2L.
25085501 2014 Integrated genome-wide association, coexpression network, and expression single nucleotide polymorphism analysis identifies novel pathway in allergic rhinitis.
24159190 2014 Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.
22267201 2012 Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
21829377 2011 Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
19448621 2009 Genome-wide association studies identify loci associated with age at menarche and age at natural menopause.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17374641 2007 Regulatory mechanisms governing the oocyte-specific synthesis of the karyoskeletal protein NO145.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
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