Property Summary

NCBI Gene PubMed Count 18
PubMed Score 15.53
PubTator Score 7.67

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
osteosarcoma -1.568 4.2e-04
posterior fossa group B ependymoma 2.100 3.7e-10
medulloblastoma -1.100 2.5e-04
medulloblastoma, large-cell -1.100 5.9e-03
colon cancer 1.100 1.0e-02
nasopharyngeal carcinoma -1.300 9.4e-07
chronic rhinosinusitis -1.359 2.4e-02
cystic fibrosis and chronic rhinosinusit... -1.182 3.6e-02

Gene RIF (3)

PMID Text
23891469 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
23527195 LRRC6 plays a role in dynein arm assembly or trafficking and when mutated leads to primary ciliary dyskinesia with laterality defects.
23122589 Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.

AA Sequence

MGWITEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIENVSKLKKLEY      1 - 70
LNLALNNIEKIENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLP     71 - 140
QLKWLDGKEIEPSERIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRW    141 - 210
YTDINATLSSLESKDHLQAPDTEEHNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSE    211 - 280
KKKKVKPPRTLITEDGKALNVNEPKIDFSLKDNEKQIILDLAVYRYMDTSLIDVDVQPTYVRVMIKGKPF    281 - 350
QLVLPAEVKPDSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKSMKTTSDRSREQTNTRSKHMEKLEVDP    351 - 420
SKHSFPDVTNIVQEKKHTPRRRPEPKIIPSEEDPTFEDNPEVPPLI                            421 - 466
//

Text Mined References (17)

PMID Year Title
26228299 2016 An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia.
25186273 2014 Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.
24432614 2013 [Molecular genetic mechanisms of teratozoospermia].
23891471 2013 Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.
23891469 2013 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
23527195 2013 LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects.
23122589 2012 Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.
23122586 2012 Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.
20215474 2010 Hearing in Drosophila requires TilB, a conserved protein associated with ciliary motility.
19395640 2009 Mutations in zebrafish leucine-rich repeat-containing six-like affect cilia motility and result in pronephric cysts, but have variable effects on left-right patterning.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15831481 2005 An evolutionarily conserved coiled-coil protein implicated in polycystic kidney disease is involved in basal body duplication and flagellar biogenesis in Trypanosoma brucei.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11329013 2001 Creation of genome-wide protein expression libraries using random activation of gene expression.
10775177 2000 Identification of a novel testis-specific leucine-rich protein in humans and mice.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.