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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Global developmental delay Likely pathogenic; Pathogenic rs797044854 RCV001255412
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability Likely pathogenic rs869320713 RCV000509303
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (35 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder Likely pathogenic; Pathogenic rs797044854 RCV001844080
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISTIC DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 30, WITH SPEECH DELAY AND BEHAVIORAL ABNORMALITIES CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 20425112
★☆☆☆☆
Found in Text Mining only
Acute myeloid leukemia, minimal differentiation Myeloid Leukemia BEFREE 26608508
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 20425112
★☆☆☆☆
Found in Text Mining only
Aphasia Aphasia Pubtator 30985688 Associate
★☆☆☆☆
Found in Text Mining only
Ataxia Ataxia Pubtator 35172867 Associate
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 25217958
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism CTD_human_DG 25217958
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism Pubtator 25217958, 34216016, 38048114 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal dominant non-syndromic intellectual disability Non-Syndromic Intellectual Disability Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only