Gene Gene information from NCBI Gene database.
Entrez ID 10771
Gene name Zinc finger MYND-type containing 11
Gene symbol ZMYND11
Synonyms (NCBI Gene)
BRAM1BS69MRD30
Chromosome 10
Chromosome location 10p15.3
Summary The protein encoded by this gene was first identified by its ability to bind the adenovirus E1A protein. The protein localizes to the nucleus. It functions as a transcriptional repressor, and expression of E1A inhibits this repression. Alternatively splic
SNPs SNP information provided by dbSNP.
11
SNP ID Visualize variation Clinical significance Consequence
rs606231266 CAG>- Pathogenic Coding sequence variant, inframe deletion, non coding transcript variant, genic downstream transcript variant
rs606231267 ->T Pathogenic Coding sequence variant, intron variant, frameshift variant, non coding transcript variant
rs672601341 G>- Pathogenic Coding sequence variant, intron variant, frameshift variant, non coding transcript variant
rs797044854 C>A,T Pathogenic Coding sequence variant, genic downstream transcript variant, non coding transcript variant, synonymous variant, missense variant
rs1057518219 AACA>- Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
589
miRTarBase ID miRNA Experiments Reference
MIRT020086 hsa-miR-361-5p Sequencing 20371350
MIRT024469 hsa-miR-215-5p Microarray 19074876
MIRT026851 hsa-miR-192-5p Microarray 19074876
MIRT046758 hsa-miR-222-3p CLASH 23622248
MIRT046219 hsa-miR-27b-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0003690 Function Double-stranded DNA binding IDA 24675531
GO:0003714 Function Transcription corepressor activity IEA
GO:0003714 Function Transcription corepressor activity ISS
GO:0005515 Function Protein binding IPI 10734313, 11733528, 19379743, 20138174, 20732415, 21988832, 26845565, 35044719
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608668 16966 ENSG00000015171
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15326
Protein name Zinc finger MYND domain-containing protein 11 (Adenovirus 5 E1A-binding protein) (Bone morphogenetic protein receptor-associated molecule 1) (Protein BS69)
Protein function Chromatin reader that specifically recognizes and binds histone H3.3 trimethylated at 'Lys-36' (H3.3K36me3) and regulates RNA polymerase II elongation. Does not bind other histone H3 subtypes (H3.1 or H3.2) (By similarity). Colocalizes with high
PDB 4NS5 , 5HDA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00439 Bromodomain 163 243 Bromodomain Domain
PF00855 PWWP 278 357 PWWP domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:16565076}.
Sequence
MARLTKRRQADTKAIQHLWAAIEIIRNQKQIANIDRITKYMSRVHGMHPKETTRQLSLAV
KDGLIVETLTVGCKGSKAGIEQEGYWLPGDEIDWETENHDWYCFECHLPGEVLICDLCFR
VYHSKCLSDEFRLRDSSSPWQCPVCRSIKKKNTNKQEMGTYLRFIVSRMKERAIDLNKKG
KDNKHPMYRRLVHSAVDVPTIQEKVNEGKYRSYEEFKADAQLLLHNTVIFYGADSEQADI
ARM
LYKDTCHELDELQLCKNCFYLSNARPDNWFCYPCIPNHELVWAKMKGFGFWPAKVMQ
KEDNQVDVRFFGHHHQRAWIPSENIQDITVNIHRLHVKRSMGWKKACDELELHQRFL
REG
RFWKSKNEDRGEEEAESSISSTSNEQLKVTQEPRAKKGRRNQSVEPKKEEPEPETEAVSS
SQEIPTMPQPIEKVSVSTQTKKLSASSPRMLHRSTQTTNDGVCQSMCHDKYTKIFNDFKD
RMKSDHKRETERVVREALEKLRSEMEEEKRQAVNKAVANMQGEMDRKCKQVKEKCKEEFV
EEIKKLATQHKQLISQTKKKQWCYNCEEEAMYHCCWNTSYCSIKCQQEHWHAEHKRTCRR
KR
Sequence length 602
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
98
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Global developmental delay Likely pathogenic; Pathogenic rs797044854 RCV001255412
Intellectual disability Likely pathogenic rs869320713 RCV000509303
Intellectual disability, autosomal dominant 30 Likely pathogenic; Pathogenic rs1952619236, rs2131978117, rs2132045372, rs2131938879, rs2132045760, rs2131927984, rs2131979217, rs2131810674, rs2131744948, rs772620276, rs2131925813, rs2132046225, rs2131809743, rs606231266, rs606231267
View all (25 more)
RCV001330265
RCV001374626
RCV001374627
RCV001374629
RCV001374631
RCV001374632
RCV001374633
RCV001374635
RCV001374660
RCV001810098
RCV001809166
RCV002226788
RCV002077371
RCV000144895
RCV000144896
RCV000144897
RCV000144898
RCV000144899
RCV002282711
RCV002282712
RCV002282713
RCV002282714
RCV001004105
RCV000210880
RCV003149143
RCV003326687
RCV005871129
RCV003322716
RCV003883268
RCV003992015
RCV004547284
RCV000445592
RCV000496105
RCV000496111
RCV001374663
RCV001374634
RCV002285019
RCV003147590
RCV001253173
RCV004819242
Neurodevelopmental disorder Likely pathogenic; Pathogenic rs797044854 RCV001844080
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability, autosomal dominant 1 Uncertain significance rs2539907718 RCV004527469
Pheochromocytoma/paraganglioma syndrome 5 Uncertain significance rs1057517548 RCV000410973
Schizophrenia Uncertain significance rs2539607218 RCV002463501
See cases Uncertain significance; Conflicting classifications of pathogenicity rs2131267933, rs2538907768 RCV002287727
RCV003128488
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aphasia Associate 30985688
Ataxia Associate 35172867
Autistic Disorder Associate 25217958, 34216016, 38048114
Brachydactyly Associate 32097528
Brain Diseases Associate 34216016
Carcinogenesis Associate 33631116, 35705031
Chromosome 10 monosomy 10q Associate 40049822
Cleft Palate Associate 32241273
Coronary Artery Disease Associate 28980286
Dental Enamel Hypoplasia Associate 32097528