Property Summary

NCBI Gene PubMed Count 10
PubMed Score 1.00
PubTator Score 2.70

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count
Ciliary dyskinesia, primary, 18 1
Disease Target Count P-value
posterior fossa group B ependymoma 1530 1.30288711964675E-11
malignant mesothelioma 3163 9.71277683469935E-8
atypical teratoid / rhabdoid tumor 4369 3.70818566323011E-7
sonic hedgehog group medulloblastoma 1482 8.13793701407687E-6
pediatric high grade glioma 2712 2.42361595566154E-5
glioblastoma 5572 1.58357143966544E-4
medulloblastoma, large-cell 6234 2.23999502241469E-4
ovarian cancer 8492 4.82144057922741E-4
intraductal papillary-mucinous carcinoma (IPMC) 2988 5.89178265858138E-4
primitive neuroectodermal tumor 3031 0.00121991015605468
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.00646959182454749
astrocytoma 1493 0.00734451409909975
lung cancer 4473 0.0240479351698647

Expression

Synonym

Accession Q86Y56 Q69YL1 Q96FI9 Q9NX75
Symbols CILD18
HEATR2

Gene

  Ortholog (11)

Species Source
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG
Dog OMA EggNOG
Cow OMA EggNOG
Pig OMA EggNOG
Opossum OMA EggNOG
Chicken OMA EggNOG
Anole lizard OMA EggNOG
Xenopus OMA EggNOG
Fruitfly OMA EggNOG Inparanoid

Pathway (1)

Gene RIF (1)

PMID Text
23040496 Identification of HEATR2 contributes to the growing number of genes associated with PCD identified in both individuals and model organisms and shows that exome sequencing in family studies facilitates the discovery of novel disease-causing gene mutations.

AA Sequence

MAALGVAEAVAAPHPAEGAETAEAVELSRALSRLLPGLEADSKPGRRRALEALRRALEEPGPAADPTAFQ      1 - 70
GPWARLLLPRLLRCLSDPAEGCRALAVHLLDLGLRRAARPRDALPRLLPALAARLAGPVPARRPPEACEE     71 - 140
LRLALVQLLGLAVDLCGAALAPHLDDALRALRCSLLDPFAAVRRESCSCAAALAQATPDHFHMQSESLIG    141 - 210
PLMQTISHQHWKVRVAAIEATGAVIHFGNGKSVDDVLSHFAQRLFDDVPQVRRAVASVVGGWLLCLRDRY    211 - 280
SFFHKLIPLLLSSLNDEVPEVRQLAASLWEDVGLQWQKENEEDLKDKLDFAPPTPPHYPPHERRPVLGCR    281 - 350
ELVFRNLSKILPALCHDITDWVVGTRVKSAQLLPVLLLHAEDHATQHLEVVLRTLFQACTDEEAAVVQSC    351 - 420
TRSAELVGTFVSPEVFLKLILSTLKKTPSASGLLVLASAMRGCPREALQPHLAAIATELAQAHICQASEN    421 - 490
DLYLERLLLCVQALVSVCHEDCGVASLQLLDVLLTIVALAGATGLRDKAQETMDSLAMVEGVSSCQDLYR    491 - 560
KHIGPLLERVTASHLDWTAHSPELLQFSVIVAQSGPALGEALPHVVPTLRACLQPSQDPQMRLKLFSILS    561 - 630
TVLLRATDTINSQGQFPSYLETVTKDILAPNLQWHAGRTAAAIRTAAVSCLWALTSSEVLSAEQIRDVQE    631 - 700
TLMPQVLTTLEEDSKMTRLISCRIINTFLKTSGGMTDPEKLIRIYPELLKRLDDVSNDVRMAAASTLVTW    701 - 770
LQCVKGANAKSYYQSSVQYLYRELLVHLDDPERAIQDAILEVLKEGSGLFPDLLVRETEAVIHKHRSATY    771 - 840
CEQLLQHVQAVPATQ                                                           841 - 855
//

Text Mined References (15)

PMID Year Title
25232951 2014 HEATR2 plays a conserved role in assembly of the ciliary motile apparatus.
23040496 2012 Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
21269460 2011 Initial characterization of the human central proteome.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
18838000 2008 Inhibition of G1P3 expression found in the differential display study on respiratory syncytial virus infection.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
16341674 2005 Transcriptome analysis of human gastric cancer.
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