ZMYND10 (zinc finger MYND-type containing 10)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 51364
Gene name Zinc finger MYND-type containing 10
Gene symbol ZMYND10
Synonyms (NCBI Gene)
BLUCILD22DNAAF7FLU
Chromosome 3
Chromosome location 3p21.31
Summary 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.
6
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.
6
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607070 19412 ENSG00000004838
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Kartagener syndrome Pathogenic rs138815960 RCV000190919
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia Likely pathogenic; Pathogenic rs1703516836, rs2109356957, rs376314608, rs1415036829, rs1703520578, rs1335327546, rs761505231, rs587731307, rs1161101663, rs587621539, rs1297857806, rs373312648, rs138815960, rs587777043, rs397515460
View all (2 more)		 RCV001864502
RCV001956096
RCV003096375
RCV002912575
RCV002890801
View all (12 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary ciliary dyskinesia 22 Pathogenic; Likely pathogenic rs2109356853, rs376314608, rs1415036829, rs1298463059, rs145320643, rs2470920447, rs138815960, rs587777043, rs587777044, rs397515460, rs587777045, rs200913791 RCV001806441
RCV002283820
RCV004595675
RCV003140522
RCV003387653
View all (7 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ZMYND10-related disorder Likely pathogenic; Pathogenic rs2109356957, rs1195050131, rs587621539, rs138815960, rs587777043 RCV003408015
RCV003404691
RCV004754439
RCV004754290
RCV003934999
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (6)
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
Adrenocortical carcinoma, hereditary Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 22 — CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL ATRESIA OF NASOPHARYNX — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (97)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 17097722
★★★★★
★☆☆☆☆
Found in Text Mining only
Aggressive Systemic Mastocytosis Systemic Mastocytosis BEFREE 29093181
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 35637434 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Refractory Refractory anemia Pubtator 22246278 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthenozoospermia Asthenozoospermia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 18298842, 18616639
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 21062653, 23478169
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 31801619
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 22139571 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only