Property Summary

NCBI Gene PubMed Count 30
Grant Count 8
R01 Count 4
Funding $761,111.08
PubMed Score 31.50
PubTator Score 706.01

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
psoriasis -1.600 0.000
ependymoma -1.700 0.000
glioblastoma -1.200 0.000
group 3 medulloblastoma -1.800 0.000
medulloblastoma, large-cell -1.400 0.000
tuberculosis -1.500 0.000
non-small cell lung cancer -1.094 0.000
pediatric high grade glioma -1.400 0.000
atypical teratoid/rhabdoid tumor -1.200 0.000
subependymal giant cell astrocytoma -1.409 0.005
lung carcinoma 1.700 0.000
Pick disease -1.200 0.000
Breast cancer -1.200 0.000

 GO Function (1)

Gene RIF (15)

PMID Text
26529358 homozygous Asp3779Asn and a hemizygous Ile262Met mutations in the LRP2 and TSPYL2 genes, respectively, in a Pakistani family with two boys affected with mild nonsyndromic intellectual disability
26089539 Authors demonstrate that human coilin-interacting nuclear ATPase protein (hCINAP) is a novel negative regulator in NF-kappaB signaling by deactivating IkappaB kinase (IKK) complex.
26059843 the extent of the duplicated regions in each case encompassing a minimum of three known disease genes TSPYL2, KDM5C and IQSEC2, is reported.
25613376 TSPYL2 is an essential component of the REST/NRSF transcriptional complex for TGFbeta signaling activation
25142742 Atrial fibrillation can result in alterations in atrial structure and architecture that make the atrial myocardium more susceptible to the maintenance of the arrhythmia.
25017435 The oncogenic events leading to an ectopic activation of TSPY and/or inactivating mutation/epigenetic silencing of TSPX could collectively contribute to the sexual dimorphism(s) in HCC and related liver cancers in male-biased manners.
23246961 More importantly, RPS14 was specifically modified with NEDD8 and hCINAP inhibited RPS14 NEDDylation by recruiting NEDD8-specific protease 1
22038794 hCINAP may not simply regulate nucleotide homeostasis, but may have broader functionality, including control of Cajal body assembly and disassembly
21204751 TSPX is principally expressed in Sertoli cells in the human testis.
20186459 knockdown of CINAP expression results in marked reduction of histone transcription, lower levels of U small nuclear RNAs (U1, U2, U4, and U5), and a loss of cell viability
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AA Sequence

MDRPDEGPPAKTRRLSSSESPQRDPPPPPPPPPLLRLPLPPPQQRPRLQEETEAAQVLADMRGVGLGPAL      1 - 70
PPPPPYVILEEGGIRAYFTLGAECPGWDSTIESGYGEAPPPTESLEALPTPEASGGSLEIDFQVVQSSSF     71 - 140
GGEGALETCSAVGWAPQRLVDPKSKEEAIIIVEDEDEDERESMRSSRRRRRRRRRKQRKVKRESRERNAE    141 - 210
RMESILQALEDIQLDLEAVNIKAGKAFLRLKRKFIQMRRPFLERRDLIIQHIPGFWVKAFLNHPRISILI    211 - 280
NRRDEDIFRYLTNLQVQDLRHISMGYKMKLYFQTNPYFTNMVIVKEFQRNRSGRLVSHSTPIRWHRGQEP    281 - 350
QARRHGNQDASHSFFSWFSNHSLPEADRIAEIIKNDLWVNPLRYYLRERGSRIKRKKQEMKKRKTRGRCE    351 - 420
VVIMEDAPDYYAVEDIFSEISDIDETIHDIKISDFMETTDYFETTDNEITDINENICDSENPDHNEVPNN    421 - 490
ETTDNNESADDHETTDNNESADDNNENPEDNNKNTDDNEENPNNNENTYGNNFFKGGFWGSHGNNQDSSD    491 - 560
SDNEADEASDDEDNDGNEGDNEGSDDDGNEGDNEGSDDDDRDIEYYEKVIEDFDKDQADYEDVIEIISDE    561 - 630
SVEEEGIEEGIQQDEDIYEEGNYEEEGSEDVWEEGEDSDDSDLEDVLQVPNGWANPGKRGKTG           631 - 693
//

Text Mined References (39)

PMID Year Title
26529358 2016 Identification of a homozygous missense mutation in LRP2 and a hemizygous missense mutation in TSPYL2 in a family with mild intellectual disability.
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26089539 2015 hCINAP negatively regulates NF-?B signaling by recruiting the phosphatase PP1 to deactivate IKK complex.
26059843 2016 Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.
25613376 2015 TSPYL2 is an essential component of the REST/NRSF transcriptional complex for TGF? signaling activation.
25142742 2014 Sinus rhythm restoration affects collagen turnover in patients with persistent atrial fibrillation.
25017435 2014 The potential contributions of a Y-located protooncogene and its X homologue in sexual dimorphisms in hepatocellular carcinoma.
23929772 2013 Genetic deletion of cell division autoantigen 1 retards diabetes-associated renal injury.
23246961 2014 hCINAP is a novel regulator of ribosomal protein-HDM2-p53 pathway by controlling NEDDylation of ribosomal protein S14.
22038794 2012 hCINAP is an atypical mammalian nuclear adenylate kinase with an ATPase motif: structural and functional studies.
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