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 mutated, deleted, or hypermethylated and silenced in cancer cells. Alternative splicing results in multiple transcript variants.... See more...

Aliases for ZMYND10 Gene

Aliases for ZMYND10 Gene

  • Zinc Finger MYND-Type Containing 10 2 3 5
  • BLU 2 3 4
  • Zinc Finger MYND Domain-Containing Protein 10 3 4
  • Dynein Axonemal Assembly Factor 7 2 3
  • Protein BLu 3 4
  • CILD22 2 3
  • DNAAF7 2 3
  • ZMYND10 5
  • FLU 3

External Ids for ZMYND10 Gene

Previous GeneCards Identifiers for ZMYND10 Gene

  • GC03M050232
  • GC03M050337
  • GC03M050353
  • GC03M050378
  • GC03M050345
  • GC03M050372

Summaries for ZMYND10 Gene

Entrez Gene Summary for ZMYND10 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 mutated, deleted, or hypermethylated and silenced in cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

GeneCards Summary for ZMYND10 Gene

ZMYND10 (Zinc Finger MYND-Type Containing 10) is a Protein Coding gene. Diseases associated with ZMYND10 include Ciliary Dyskinesia, Primary, 22 and Primary Ciliary Dyskinesia. An important paralog of this gene is MSS51.

UniProtKB/Swiss-Prot Summary for ZMYND10 Gene

  • 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 similarity). May act by indirectly regulating transcription of dynein proteins (By similarity).

Gene Wiki entry for ZMYND10 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZMYND10 Gene

Genomics for ZMYND10 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZMYND10 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J050345 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 600.7 -0.2 -154 1.4 RFX1 LARP7 EZH2 NRF1 RFX3 SP2 EGR1 BMI1 ZBTB2 YY1 ZMYND10 lnc-RASSF1-2 CYB561D2 MN297994 ZMYND10-AS1
GH03J050346 Enhancer 0.7 ENCODE 600.7 -1.7 -1652 1.1 CTCF FOXA1 PATZ1 REST RAD21 SP1 TRIM22 ZNF341 SCRT2 JUND MN297994 ZMYND10 HYAL1 CYB561D2 NPRL2 lnc-ZMYND10-2 ZMYND10-AS1
GH03J050453 Enhancer 0.5 FANTOM5 Ensembl 39.3 -109.7 -109663 2.8 POLR2A LOC105377082 lnc-CYB561D2-6 ZMYND10 C3orf18 CACNA2D2 TMEM115 GNAI2 HEMK1 CYB561D2 HYAL3
GH03J049872 Enhancer 1.2 FANTOM5 Ensembl ENCODE 11.2 +472.5 472501 2.4 HNRNPL GATAD2A TFE3 RFX1 RCOR2 RXRB IRF2 SP1 PKNOX1 SOX13 RBM6 ZMYND10 GNAI2 HYAL3 CAMKV ACTBP13 MST1R
GH03J050332 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 0.4 +7.8 7845 9.8 SP1 CREB1 HNRNPL ATF7 TEAD4 PRDM10 ZNF629 TFE3 IKZF1 ZNF692 RASSF1 RASSF1-AS1 HYAL3 CYB561D2 NICN1 IFRD2 LSMEM2 HYAL1 RBM6 SEMA3F
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZMYND10 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZMYND10

Top Transcription factor binding sites by QIAGEN in the ZMYND10 gene promoter:
  • AP-1
  • GR-alpha

Genomic Locations for ZMYND10 Gene

Genomic Locations for ZMYND10 Gene
chr3:50,341,110-50,345,732
(GRCh38/hg38)
Size:
4,623 bases
Orientation:
Minus strand
chr3:50,378,537-50,384,283
(GRCh37/hg19)
Size:
5,747 bases
Orientation:
Minus strand

Genomic View for ZMYND10 Gene

Genes around ZMYND10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZMYND10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZMYND10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZMYND10 Gene

Proteins for ZMYND10 Gene

  • Protein details for ZMYND10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75800-ZMY10_HUMAN
    Recommended name:
    Zinc finger MYND domain-containing protein 10
    Protein Accession:
    O75800
    Secondary Accessions:
    • A6NK41
    • B3KU54
    • O14570
    • O75801
    • Q53FE6
    • Q8N4R6
    • Q8NDN6

    Protein attributes for ZMYND10 Gene

    Size:
    440 amino acids
    Molecular mass:
    50344 Da
    Quaternary structure:
    • Interacts (via C-terminus) with LRRC6 (via CS domain); this interaction stabilizes LRRC6 at the protein level (PubMed:23891469, PubMed:23891471, PubMed:29601588). Interacts (via C-terminus) with DNAL1; this interaction stabilizes DNAL1 at the protein level (PubMed:29601588). Interacts with DNAAF4, HSPA8, IQUB, RUVBL2 and TCTEX1D1 (PubMed:29601588).
    SequenceCaution:
    • Sequence=AAB67311.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ZMYND10 Gene

    Alternative splice isoforms for ZMYND10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZMYND10 Gene

Post-translational modifications for ZMYND10 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZMYND10 Gene

No data available for DME Specific Peptides for ZMYND10 Gene

Domains & Families for ZMYND10 Gene

Gene Families for ZMYND10 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ZMYND10 Gene

InterPro:
Blocks:
  • Zn-finger, MYND type
ProtoNet:

Suggested Antigen Peptide Sequences for ZMYND10 Gene

GenScript: Design optimal peptide antigens:
  • Protein BLu (ZMY10_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75800

UniProtKB/Swiss-Prot:

ZMY10_HUMAN :
  • Belongs to the ZMYND10 family.
Family:
  • Belongs to the ZMYND10 family.
genes like me logo Genes that share domains with ZMYND10: view

Function for ZMYND10 Gene

Molecular function for ZMYND10 Gene

UniProtKB/Swiss-Prot 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 similarity). May act by indirectly regulating transcription of dynein proteins (By similarity).

Phenotypes From GWAS Catalog for ZMYND10 Gene

Gene Ontology (GO) - Molecular Function for ZMYND10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0044183 protein binding involved in protein folding IEA --
GO:0046872 metal ion binding IEA --
GO:0060090 molecular adaptor activity IEA --
genes like me logo Genes that share ontologies with ZMYND10: view
genes like me logo Genes that share phenotypes with ZMYND10: view

Human Phenotype Ontology for ZMYND10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ZMYND10 Gene

MGI Knock Outs for ZMYND10:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZMYND10

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for ZMYND10 Gene

Localization for ZMYND10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZMYND10 Gene

Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Apical cell membrane. Note=Localizes to sites proximal to the axoneme. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZMYND10 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 4
cytosol 3
nucleus 2
extracellular 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ZMYND10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ZMYND10: view

Pathways & Interactions for ZMYND10 Gene

PathCards logo

SuperPathways for ZMYND10 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZMYND10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003341 cilium movement IEA --
GO:0006457 protein folding IEA --
GO:0036158 outer dynein arm assembly IBA,ISS --
GO:0036159 inner dynein arm assembly IBA,ISS --
GO:0044458 motile cilium assembly IBA,IMP 23891469
genes like me logo Genes that share ontologies with ZMYND10: view

No data available for Pathways by source and SIGNOR curated interactions for ZMYND10 Gene

Drugs & Compounds for ZMYND10 Gene

(1) Additional Compounds for ZMYND10 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ZMYND10: view

Transcripts for ZMYND10 Gene

mRNA/cDNA for ZMYND10 Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZMYND10

Alternative Splicing Database (ASD) splice patterns (SP) for ZMYND10 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b
SP1: - - - -
SP2: - - - -
SP3: - - - - - -
SP4: - - - -
SP5: - -
SP6:
SP7: -
SP8:
SP9:

Relevant External Links for ZMYND10 Gene

GeneLoc Exon Structure for
ZMYND10

Expression for ZMYND10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZMYND10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ZMYND10 Gene

This gene is overexpressed in Testis (x33.3).

Protein differential expression in normal tissues from HIPED for ZMYND10 Gene

This gene is overexpressed in Ovary (24.5), Testis (24.4), and Fetal Brain (20.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ZMYND10 Gene



Protein tissue co-expression partners for ZMYND10 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZMYND10

SOURCE GeneReport for Unigene cluster for ZMYND10 Gene:

Hs.526735

Evidence on tissue expression from TISSUES for ZMYND10 Gene

  • Nervous system(4.7)
  • Lung(4.4)
  • Kidney(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ZMYND10 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pharynx
  • sinus
  • skull
Thorax:
  • bronchus
  • lung
  • trachea
Abdomen:
  • spleen
Pelvis:
  • ovary
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • white blood cell
genes like me logo Genes that share expression patterns with ZMYND10: view

No data available for mRNA Expression by UniProt/SwissProt for ZMYND10 Gene

Orthologs for ZMYND10 Gene

This gene was present in the common ancestor of animals.

Orthologs for ZMYND10 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ZMYND10 30 31
  • 99.77 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ZMYND10 30 31
  • 91.09 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ZMYND10 30 31
  • 88.91 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Zmynd10 30 17 31
  • 85.68 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Zmynd10 30
  • 85.61 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ZMYND10 31
  • 67 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ZMYND10 31
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ZMYND10 31
  • 63 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ZMYND10 31
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia zmynd10 30
  • 62.88 (n)
Zebrafish
(Danio rerio)
Actinopterygii zmynd10 30 31
  • 58.1 (n)
OneToOne
zgc63660 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG11253 30 31
  • 47.94 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011078 30
  • 47.19 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5292 30
Species where no ortholog for ZMYND10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ZMYND10 Gene

ENSEMBL:
Gene Tree for ZMYND10 (if available)
TreeFam:
Gene Tree for ZMYND10 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZMYND10: view image

Paralogs for ZMYND10 Gene

Paralogs for ZMYND10 Gene

genes like me logo Genes that share paralogs with ZMYND10: view

Variants for ZMYND10 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZMYND10 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
639060 Uncertain Significance: Primary ciliary dyskinesia 50,343,332(-) C/T MISSENSE_VARIANT
644750 Uncertain Significance: Primary ciliary dyskinesia 50,341,610(-) C/T MISSENSE_VARIANT
645306 Pathogenic: Primary ciliary dyskinesia 50,343,306(-) C/T SPLICE_DONOR_VARIANT
646011 Uncertain Significance: Primary ciliary dyskinesia 50,343,817(-) C/T MISSENSE_VARIANT
646133 Uncertain Significance: Primary ciliary dyskinesia 50,343,166(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ZMYND10 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZMYND10 Gene

Variant ID Type Subtype PubMed ID
dgv8317n54 CNV loss 21841781
esv3584502 CNV gain 24956385
nsv460531 CNV loss 19166990
nsv470561 CNV loss 18288195
nsv476603 CNV novel sequence insertion 20440878
nsv523662 CNV loss 19592680
nsv590255 CNV loss 21841781
nsv590258 CNV loss 21841781
nsv834692 CNV loss 17160897
nsv834693 CNV loss 17160897
nsv954855 CNV deletion 24416366

Variation tolerance for ZMYND10 Gene

Residual Variation Intolerance Score: 81.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.30; 41.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZMYND10 Gene

Human Gene Mutation Database (HGMD)
ZMYND10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZMYND10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZMYND10 Gene

Disorders for ZMYND10 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ZMYND10 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ZMY10_HUMAN
  • Ciliary dyskinesia, primary, 22 (CILD22) [MIM:615444]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269 PubMed:23891469, ECO:0000269 PubMed:23891471, ECO:0000269 PubMed:25186273, ECO:0000269 PubMed:29601588}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with ZMYND10: view

No data available for Genatlas for ZMYND10 Gene

Publications for ZMYND10 Gene

  1. ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. (PMID: 23891469) Zariwala MA … Hildebrandt F (American journal of human genetics 2013) 2 3 4
  2. ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms. (PMID: 29601588) Cho KJ … Gee HY (PLoS genetics 2018) 3 4
  3. Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. (PMID: 25186273) Raidt J … Werner C (The European respiratory journal 2014) 3 4
  4. Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia. (PMID: 23891471) Moore DJ … Mitchison HM (American journal of human genetics 2013) 3 4
  5. RASSF1A, BLU, NORE1A, PTEN and MGMT expression and promoter methylation in gliomas and glioma cell lines and evidence of deregulated expression of de novo DNMTs. (PMID: 18616639) Lorente A … Castresana JS (Brain pathology (Zurich, Switzerland) 2009) 3 23

Products for ZMYND10 Gene

  • Signalway Proteins for ZMYND10

Sources for ZMYND10 Gene