ZMYND10 (zinc finger MYND-type containing 10)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51364
Gene name Gene Name - the full gene name approved by the HGNC.
Zinc finger MYND-type containing 10
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZMYND10
Synonyms (NCBI Gene) Gene synonyms aliases
BLU, CILD22, DNAAF7, FLU
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.31
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein containing a MYND-type zinc finger domain that likely functions in assembly of the dynein motor. Mutations in this gene can cause primary ciliary dyskinesia. This gene is also considered a tumor suppressor gene and is often mut
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs138815960 A>C Pathogenic Missense variant, 5 prime UTR variant, coding sequence variant
rs373312648 C>T Pathogenic Splice donor variant
rs587621539 A>G Pathogenic 5 prime UTR variant, coding sequence variant, missense variant
rs587777043 G>- Pathogenic Coding sequence variant, frameshift variant
rs587777044 ->T Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
miRTarBase ID miRNA Experiments Reference
MIRT1515170 hsa-miR-1291 CLIP-seq
MIRT1515171 hsa-miR-3127-5p CLIP-seq
MIRT1515172 hsa-miR-342-5p CLIP-seq
MIRT1515173 hsa-miR-4286 CLIP-seq
MIRT1515174 hsa-miR-4664-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(34)
GO ID Ontology Definition Evidence Reference
GO:0003341 Process Cilium movement IEA
GO:0005515 Function Protein binding IPI 16189514, 23891469, 23891471, 25416956, 29601588, 32296183
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607070 19412 ENSG00000004838
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID O75800
Protein name Zinc finger MYND domain-containing protein 10 (Protein BLu)
Protein function Plays a role in axonemal structure organization and motility (PubMed:23891469, PubMed:23891471). Involved in axonemal pre-assembly of inner and outer dynein arms (IDA and ODA, respectively) for proper axoneme building for cilia motility (By simi
PDB 2D8Q , 2DAN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01753 zf-MYND 394 → 430 MYND finger Domain
Sequence 
MGDLELLLPGEAEVLVRGLRSFPLREMGSEGWNQQHENLEKLNMQAILDATVSQGEPIQE
LLVTHGKVPTLVEELIAVEMWKQKVFPVFCRVEDFKPQNTFPIYMVVHHEASIINLLETV
FFHKEVCESAEDTVLDLVDYCHRKLTLLVAQSGCGGPPEGEGSQDSNPMQELQKQAELME
FEIALKALSVLRYITDCVDSLSLSTLSRMLSTHNLPCLLVELLEHSPWSRREGGKLQQFE
GSRWHTVAPSEQQKLSKLDGQVWIALYNLLLSPEAQARYCLTSFAKGRLLKLRAFLTDTL
LDQLPNLAHLQSFLAHLTLTETQPPKKDLVLEQIPEIWERLERENRGKWQAIAKHQLQHV
FSPSEQDLRLQARRWAETYRLDVLEAVAPERPRCAYCSAEASKRCSRCQNEWYCCRECQV
KHWEKHGKTCVLAAQGDRAK
Sequence length 440
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Ciliary dyskinesia primary ciliary dyskinesia, Primary ciliary dyskinesia 22 rs200913791, rs138815960, rs587621539, rs1297857806, rs373312648, rs587777043, rs587777044, rs397515460, rs587777045 N/A
Kartagener Syndrome kartagener syndrome rs138815960 N/A
Show/Hide Text Mining Associations (18)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 35637434
Anemia Refractory Inhibit 22246278
Anemia Refractory with Excess of Blasts Inhibit 22246278
Breast Neoplasms Associate 22139571
Carcinoma Non Small Cell Lung Associate 20521346
Ciliary Motility Disorders Associate 25186273, 26824761, 29402277, 35637434, 39180133
Epstein Barr Virus Infections Associate 23829175
Genetic Diseases Inborn Associate 26824761
Glioma Associate 18616639
Influenza Human Stimulate 39288111