Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10771
Gene name Gene Name - the full gene name approved by the HGNC.
Zinc finger MYND-type containing 11
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZMYND11
Synonyms (NCBI Gene) Gene synonyms aliases
BRAM1, BS69, MRD30
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10p15.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608668 16966 ENSG00000015171
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation Intellectual disability, autosomal dominant 30, intellectual disability rs1554767754, rs672601340, rs1554789246, rs606231268, rs1554792556, rs672601341, rs1388355040, rs797044854, rs869320713, rs1060499626, rs1135401771, rs606231266, rs1135401797, rs606231267 N/A
Developmental Delay global developmental delay rs797044854 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Neurodevelopmental Disorders syndromic complex neurodevelopmental disorder N/A N/A GenCC
Non-Syndromic Intellectual Disability autosomal dominant non-syndromic intellectual disability N/A N/A GenCC
Paraganglioma paragangliomas 5 N/A N/A ClinVar
Associations from Text Mining Disease 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