Property Summary

NCBI Gene PubMed Count 18
Grant Count 22
R01 Count 21
Funding $3,609,459.2
PubMed Score 25.52
PubTator Score 5.64

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Gene RIF (5)

PMID Text
25902260 KIRREL3 interacting proteins MAP1B and MYO16 are potential candidates for intellectual disability and autism spectrum disorder.
25488023 Results presented demonstrate for the first time that there are at least 3 splice variants of Kirrel3 expressed in adult human skeletal muscle, two of which have never previously been identified in human muscle.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20237496 Observational study of gene-disease association. (HuGE Navigator)
19012874 Alterations in KIRREL3 in patients with mild to severe intellectual disability are reported.

AA Sequence

MKPFQLDLLFVCFFLFSQELGLQKRGCCLVLGYMAKDKFRRMNEGQVYSFSQQPQDQVVVSGQPVTLLCA      1 - 70
IPEYDGFVLWIKDGLALGVGRDLSSYPQYLVVGNHLSGEHHLKILRAELQDDAVYECQAIQAAIRSRPAR     71 - 140
LTVLVPPDDPVILGGPVISLRAGDPLNLTCHADNAKPAASIIWLRKGEVINGATYSKTLLRDGKRESIVS    141 - 210
TLFISPGDVENGQSIVCRATNKAIPGGKETSVTIDIQHPPLVNLSVEPQPVLEDNVVTFHCSAKANPAVT    211 - 280
QYRWAKRGQIIKEASGEVYRTTVDYTYFSEPVSCEVTNALGSTNLSRTVDVYFGPRMTTEPQSLLVDLGS    281 - 350
DAIFSCAWTGNPSLTIVWMKRGSGVVLSNEKTLTLKSVRQEDAGKYVCRAVVPRVGAGEREVTLTVNGPP    351 - 420
IISSTQTQHALHGEKGQIKCFIRSTPPPDRIAWSWKENVLESGTSGRYTVETISTEEGVISTLTISNIVR    421 - 490
ADFQTIYNCTAWNSFGSDTEIIRLKEQGSEMKSGAGLEAESVPMAVIIGVAVGAGVAFLVLMATIVAFCC    491 - 560
ARSQRNLKGVVSAKNDIRVEIVHKEPASGREGEEHSTIKQLMMDRGEFQQDSVLKQLEVLKEEEKEFQNL    561 - 630
KDPTNGYYSVNTFKEHHSTPTISLSSCQPDLRPAGKQRVPTGMSFTNIYSTLSGQGRLYDYGQRFVLGMG    631 - 700
SSSIELCEREFQRGSLSDSSSFLDTQCDSSVSSSGKQDGYVQFDKASKASASSSHHSQSSSQNSDPSRPL    701 - 770
QRRMQTHV                                                                  771 - 778
//

Text Mined References (18)

PMID Year Title
25902260 2015 Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment.
25488023 2014 Identification of novel Kirrel3 gene splice variants in adult human skeletal muscle.
23667675 2013 Genome wide association study of age at menarche in the Japanese population.
22747683 2012 Genetic variants associated with breast size also influence breast cancer risk.
20585627 2010 Web-based, participant-driven studies yield novel genetic associations for common traits.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20237496 2010 New genetic associations detected in a host response study to hepatitis B vaccine.
20195266 2011 Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.
19012874 2008 Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.
18951430 2008 Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
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