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Relevance to Autism

A de novo LoF variant (splice-site) was identified in a simplex ASD case from the Simons Simplex Collection (Iossifov et al., 2012). More recently, five loss-of-function variants, one of which was de novo in origin and one which was inherited from a similarly affected parent, were identified in patients from DD/ID cohorts; one of these patients also presented with pervasive developmental disorder, and other patients presented with social difficulties and/or behavioral problems (Coe et al., 2014).

Molecular Function

Chromatin reader that specifically recognizes and binds histone H3.3 trimethylated at 'Lys-36' (H3.3K36me3) and regulates RNA polymerase II elongation. Colocalizes with highly expressed genes and functions as a transcription corepressor by modulating RNA polymerase II at the elongation stage. Acts as a tumor-suppressor by repressing a transcriptional program essential for tumor cell growth.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo gene disruptions in children on the autistic spectrum.
ASD
Support
Mutations in HECW2 are associated with intellectual disability and epilepsy.
ASD, ID, epilepsy/seizures
Support
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder
DD, epilepsy/seizures
ASD, ADHD, ID
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
ASD, DD
ID
Support
A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability.
ID
Support
ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
Autosomal dominant mental retardation-30 (MRD30)
ASD or autistic features
Support
Exome Pool-Seq in neurodevelopmental disorders.
ID, epilepsy/seizures
Macrocephaly, hypotonia, aggression
Support
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of two clinical units and 216 patients.
ID
Macrocephaly
Support
A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.
DD, epilepsy/seizures
Support
ASD, DD, ID
Recent Recommendation
Genome-wide association study of behavioral, physiological and gene expression traits in outbred CFW mice.
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
Recent Recommendation
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
DD, ID
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN641R001 
 splice_site_variant 
 c.1159-1G>A 
  
 De novo 
  
 Simplex 
 GEN641R002 
 frameshift_variant 
 NM_006624.5:g.255918dup 
 p.Thr70AsnfsTer12 
 De novo 
  
 Unknown 
 GEN641R003 
 frameshift_variant 
 c.292_293insC 
 p.Asn98ThrfsTer26 
 Unknown 
  
 Unknown 
 GEN641R004 
 frameshift_variant 
 c.399del 
 p.Met133IlefsTer19 
 Familial 
 Paternal 
 Simplex 
 GEN641R005 
 stop_gained 
 c.976C>T 
 p.Gln326Ter 
 Unknown 
  
 Unknown 
 GEN641R006 
 frameshift_variant 
 c.1084del 
 p.Glu362LysfsTer3 
 Unknown 
  
 Unknown 
 GEN641R007 
 inframe_deletion 
 c.1597del 
 p.Gln533ArgfsTer59 
 De novo 
  
 Unknown 
 GEN641R008 
 missense_variant 
 c.1798C>T 
 p.Arg600Trp 
 De novo 
  
 Simplex 
 GEN641R009 
 missense_variant 
 c.1798C>T 
 p.Arg600Trp 
 De novo 
  
 Unknown 
 GEN641R010 
 missense_variant 
 c.1636C>T 
 p.Arg546Trp 
 De novo 
  
 Simplex 
 GEN641R011 
 missense_variant 
 c.1262G>A 
 p.Ser421Asn 
 De novo 
  
 Simplex 
 GEN641R012 
 missense_variant 
 c.76C>T 
 p.Arg26Trp 
 De novo 
  
  
 GEN641R013 
 frameshift_variant 
 c.383del 
 p.Ser128LeufsTer42 
 Familial 
 Paternal 
 Simplex 
 GEN641R014 
 stop_gained 
  
  
 De novo 
  
 Simplex 
 GEN641R015 
 splice_site_variant 
 c.117-2A>T 
  
 Unknown 
  
 Simplex 
 GEN641R016 
 stop_gained 
 c.630C>G 
 p.Tyr210Ter 
 De novo 
  
 Simplex 
 GEN641R017 
 frameshift_variant 
 c.456_459del 
 p.Asn152LysfsTer22 
 De novo 
  
 Simplex 
 GEN641R018 
 stop_gained 
 c.1089G>A 
 p.Trp363Ter 
 De novo 
  
 Simplex 
 GEN641R019 
 frameshift_variant 
 c.1129del 
 p.Ser377ProfsTer11 
 De novo 
  
 Simplex 
 GEN641R020 
 frameshift_variant 
 c.1155_1158del 
 p.Thr386ArgfsTer3 
 Unknown 
  
  
 GEN641R021 
 frameshift_variant 
 c.1332_1333del 
 p.Lys446AlafsTer4 
 Unknown 
  
  
 GEN641R022 
 stop_gained 
 c.1531C>T 
 p.Gln511Ter 
 Familial 
 Paternal 
 Simplex 
 GEN641R023 
 frameshift_variant 
 c.1379dup 
 p.Asn460LysfsTer2 
 De novo 
  
  
 GEN641R024 
 missense_variant 
 c.1720T>C 
 p.Cys574Arg 
 De novo 
  
 Simplex 
 GEN641R025 
 stop_gained 
 c.1756C>T 
 p.Gln586Ter 
 Familial 
 Maternal 
 Multiplex 
 GEN641R026 
 missense_variant 
 c.1053G>A 
 p.Glu351= 
 De novo 
  
 Simplex 
 GEN641R027 
 frameshift_variant 
 c.581_582del 
 p.Thr194MetfsTer3 
 De novo 
  
  
 GEN641R028 
 missense_variant 
 c.7C>T 
 p.Arg3Cys 
 Familial 
 Maternal 
  
 GEN641R029 
 missense_variant 
 c.803G>A 
 p.Arg268His 
 Unknown 
  
 Simplex 
 GEN641R030 
 missense_variant 
 c.850G>C 
 p.Val284Leu 
 Unknown 
  
  
 GEN641R031 
 missense_variant 
 c.8G>A 
 p.Arg3His 
 Unknown 
  
 Simplex 
 GEN641R032 
 frameshift_variant 
 c.744_745del 
 p.Cys249SerfsTer2 
 Unknown 
  
  
 GEN641R033 
 stop_gained 
 c.466C>T 
 p.Gln156Ter 
 Unknown 
  
  
 GEN641R034 
 missense_variant 
 c.848T>C 
 p.Leu283Pro 
 Unknown 
  
  
 GEN641R035 
 missense_variant 
 c.1799G>A 
 p.Arg600Gln 
 Unknown 
  
  
 GEN641R036 
 missense_variant 
 c.8G>A 
 p.Arg3His 
 Unknown 
  
  
 GEN641R037 
 missense_variant 
 c.8G>A 
 p.Arg3His 
 Unknown 
  
  
 GEN641R038 
 splice_site_variant 
 c.997-1G>A 
  
 Unknown 
  
  
 GEN641R039 
 splice_site_variant 
 c.1159-1G>A 
  
 Unknown 
  
  
 GEN641R040 
 stop_gained 
 c.22C>T 
 p.Arg8Ter 
 De novo 
  
  
 GEN641R041 
 stop_gained 
 c.82C>T 
 p.Gln28Ter 
 De novo 
  
  
 GEN641R042 
 stop_gained 
 c.709C>T 
 p.Gln237Ter 
 De novo 
  
 Multiplex 
 GEN641R043 
 frameshift_variant 
 c.737_738del 
 p.Lys246ArgfsTer5 
 Unknown 
  
  
 GEN641R044 
 frameshift_variant 
 c.737_738del 
 p.Lys246ArgfsTer5 
 Unknown 
  
  
 GEN641R045 
 missense_variant 
 c.926G>A 
 p.Arg309His 
 De novo 
  
  
 GEN641R046 
 frameshift_variant 
 c.1129del 
 p.Ser377ProfsTer11 
 De novo 
  
  
 GEN641R047 
 missense_variant 
 c.1685G>C 
 p.Trp562Ser 
 Familial 
 Maternal 
  
 GEN641R048 
 missense_variant 
 c.1724G>A 
 p.Cys575Tyr 
 De novo 
  
  
 GEN641R049 
 missense_variant 
 c.1793G>C 
 p.Cys598Ser 
 De novo 
  
  
 GEN641R050 
 splice_site_variant 
 c.1159-2A>G 
  
 De novo 
  
  
 GEN641R051 
 frameshift_variant 
 c.1581dup 
 p.Cys528MetfsTer2 
 Familial 
 Maternal 
 Multiplex 
 GEN641R052 
 splice_site_variant 
 c.1687-1G>A 
  
 De novo 
  
  
 GEN641R053 
 frameshift_variant 
 c.876_882del 
 p.Phe293GlnfsTer43 
 Unknown 
  
  
  et al.  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
10
Deletion-Duplication
 24
 
10
Duplication
 2
 
10
Duplication
 1
 
10
Duplication
 1
 
10
Duplication
 1
 
10
Deletion
 3
 
10
Deletion-Duplication
 3
 
10
Deletion
 4
 
10
Duplication
 6
 
10
Deletion
 1
 

No Animal Model Data Available





Download ZMYND11's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
BMPR1A bone morphogenetic protein receptor, type IA 657 P36894 Y2H; IP/WB; Northern blot; GST
Kurozumi K , et al. 1998
C11orf30 chromosome 11 open reading frame 30 56946 Q7Z589 IP/WB; GST; Y2H; qRT-PCR
Hughes-Davies L , et al. 2003
CHD2 chromodomain helicase DNA binding protein 2 1106 O14647 LC-MS/MS
Vertegaal AC , et al. 2006
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 CHIP-seq
Cotney J , et al. 2015
E2F6 E2F transcription factor 6 1876 O75461 IP/WB; GST
Velasco G , et al. 2006
ELAVL1 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) 1994 Q15717 RNP IP
Abdelmohsen K , et al. 2009
EP400 E1A binding protein p400 57634 Q96L91 IP/WB
Zhang W , et al. 2007
ETS2 v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) 2114 P15036 Y2H; IP/WB; Affinity chromatography; Luciferase reporter assay
Wei G , et al. 2003
EZH1 enhancer of zeste homolog 1 (Drosophila) 2145 Q92800 IP/WB; GST
Velasco G , et al. 2006
EZH2 enhancer of zeste homolog 2 (Drosophila) 2146 Q15910 IP/WB; GST
Velasco G , et al. 2006
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
H3F3A H3 histone, family 3A 3020 P84243 Peptide microarray; Peptide pull-down assay; EMSA; X-ray crystallography; IP/WB
Wen H , et al. 2014
HDAC1 histone deacetylase 1 3065 Q13547 IP/WB; GST
Velasco G , et al. 2006
HOXD4 Homeobox protein Hox-D4 3233 P09016 M2H
Ravasi T , et al. 2010
LMP1 Latent membrane protein 1 3783750 P03230 IP/WB; qRT-PCR
Ikeda O , et al. 2010
LTBR lymphotoxin beta receptor (TNFR superfamily, member 3) 4055 P36941 Y2H; IP/WB
Liu HP , et al. 2010
MAGEC2 Melanoma-associated antigen C2 51438 Q9UBF1 MS; GST; IP/WB
Hao J , et al. 2014
MYB Transcriptional activator Myb 4602 P10242 IP/WB; Luciferase reporter assay; Beta-galactosidase filter assay; Fluorescence in situ hybridization
Ladendorff NE , et al. 2001
NCOR1 nuclear receptor corepressor 1 9611 O75376 IP/WB; Luciferase reporter assay; Beta-galactosidase filter assay; Y2H
Masselink H and Bernards R 2000
PDLIM7 PDZ and LIM domain 7 (enigma) 9260 Q9NR12 IP/WB; Y2H; qRT-PCR
Wan J , et al. 2005
PIAS1 protein inhibitor of activated STAT, 1 8554 O75925 Y2H; IP/WB; in vivo SUMOylation assay
Yu B , et al. 2009
SMAD2 SMAD family member 2 4087 Q15796 Y2H
Colland F , et al. 2004
SMAD3 SMAD family member 3 4088 P84022 Y2H
Wang J , et al. 2011
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 6595 P51531 IP/WB; GST
Velasco G , et al. 2006
SRPK1 SRSF protein kinase 1 6732 B4DS61 LC-MS/MS; in vitro kinase assay
Varjosalo M , et al. 2013
SUMO1 SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae) 7341 P63165 LC-MS/MS
Vertegaal AC , et al. 2006
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1 10454 A8K6K3 Y2H; IP/WB; Northern blot; GST
Kurozumi K , et al. 1998
TP53 tumor protein p53 7157 P04637 IP/WB
Zhang W , et al. 2007
TRADD TNFRSF1A-associated via death domain 8717 Q15628 IP/WB; qRT-PCR; Immunofluorescence
Ikeda O , et al. 2009
TRAF1 TNF receptor-associated factor 1 7185 Q13077 IP/WB; qRT-PCR
Ikeda O , et al. 2010
TRAF2 TNF receptor-associated factor 2 7186 Q12933 IP/WB; qRT-PCR
Ikeda O , et al. 2010
TRAF3 TNF receptor-associated factor 3 7187 Q13114 IP/WB; qRT-PCR
Ikeda O , et al. 2010
TRAF5 TNF receptor-associated factor 5 7188 O00463 IP/WB; qRT-PCR
Ikeda O , et al. 2010
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase 7189 Q9Y4K3 IP/WB
Wan J , et al. 2005
UBC ubiquitin C 7316 P63279 GST; IP/WB
Hao J , et al. 2014
UBE2I ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast) 7329 P63279 Y2H; IP/WB; in vivo SUMOylation assay
Yu B , et al. 2009
UL122 Viral transcription factor IE2 3077563 Q6SW29 LC-MS/MS
Pichlmair A , et al. 2012
ZHX1 zinc fingers and homeoboxes 1 11244 Q9UKY1 Y2H
Wang J , et al. 2011
ZMYND11 zinc finger, MYND-type containing 11 10771 Q5BJG6 Y2H; IP/WB; in vivo SUMOylation assay
Yu B , et al. 2009

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