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Aliases for ZMYND10 Gene

Aliases for ZMYND10 Gene

  • Zinc Finger MYND-Type Containing 10 2 3 5
  • Protein BLu 3 4
  • BLU 3 4
  • Zinc Finger MYND Domain-Containing Protein 10 3
  • CILD22 3
  • FLU 3

External Ids for ZMYND10 Gene

Previous GeneCards Identifiers for ZMYND10 Gene

  • GC03M050232
  • GC03M050337
  • GC03M050353

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 Kartagener Syndrome.

UniProtKB/Swiss-Prot for ZMYND10 Gene

  • Required for motile ciliary function. Probably involved in axonemal assembly of inner and outer dynein arms (IDA and ODA, respectively) for proper axoneme building for cilia motility. May act by indirectly regulating transcription of dynein proteins.

Gene Wiki entry for ZMYND10 Gene

Additional gene information for ZMYND10 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZMYND10 Gene

Genomics for ZMYND10 Gene

GeneHancer (GH) Regulatory Elements for ZMYND10 Gene

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
GH03I050345 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 550.8 +1.1 1067 1.2 ZNF639 MAZ RFX1 ZBTB2 NRF1 SP2 SIN3A ZBTB8A BMI1 E2F1 ZMYND10 ZMYND10-AS1
GH03I050346 Enhancer 0.9 Ensembl ENCODE 550.8 -0.5 -532 1.1 CTCF FOXA2 JUN ZNF384 RAD21 ZBTB40 FOSL1 PATZ1 SCRT2 ZNF143 ZMYND10 HYAL1 NPRL2 CYB561D2
GH03I049872 Enhancer 1 FANTOM5 ENCODE 11.2 +473.6 473621 2.4 ELF3 PKNOX1 MLX ARID4B BMI1 DMAP1 RAD21 ZNF48 ZSCAN9 THAP11 RBM6 ZMYND10 GNAI2 HYAL3 NAT6 CAMKV ACTBP13 GC03P049762 GC03P049763 GC03P049421
GH03I050453 Enhancer 0.2 FANTOM5 39.3 -107.2 -107224 0.2 LOC105377082 ZMYND10 C3orf18 GNAI2 HYAL3 NAT6 RNA5SP131 CACNA2D2
GH03I050332 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 0.4 +9.2 9180 9.4 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 POLR2B ZNF766 RASSF1 RASSF1-AS1 HYAL3 CYB561D2 RBM6 SEMA3F-AS1 NICN1 RBM5 RHOA-IT1 TMEM115
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ZMYND10 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ZMYND10 gene promoter:

Genomic Locations for ZMYND10 Gene

Genomic Locations for ZMYND10 Gene
chr3:50,341,106-50,346,852
(GRCh38/hg38)
Size:
5,747 bases
Orientation:
Minus strand
chr3:50,378,537-50,384,283
(GRCh37/hg19)

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 with LRRC6.
    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

No Post-translational modifications

Other Protein References for ZMYND10 Gene

Antibody Products

  • Abcam antibodies for ZMYND10
  • Santa Cruz Biotechnology (SCBT) Antibodies for ZMYND10

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

Suggested Antigen Peptide Sequences for ZMYND10 Gene

GenScript: Design optimal peptide antigens:

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:
Required for motile ciliary function. Probably involved in axonemal assembly of inner and outer dynein arms (IDA and ODA, respectively) for proper axoneme building for cilia motility. May act by indirectly regulating transcription of dynein proteins.

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:0046872 metal ion binding 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 Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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. 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
cytoskeleton 5
cytosol 3
plasma membrane 2
nucleus 2
extracellular 1
mitochondrion 1

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:0034451 centriolar satellite ISS --
genes like me logo Genes that share ontologies with ZMYND10: view

Pathways & Interactions for ZMYND10 Gene

SuperPathways for ZMYND10 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZMYND10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0036158 outer dynein arm assembly IMP 23891469
GO:0036159 inner dynein arm assembly IMP 23891469
GO:0044458 motile cilium assembly 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

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
ZMYND10

Expression for ZMYND10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for ZMYND10 Gene



Protein tissue co-expression partners for ZMYND10 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ZMYND10 Gene:

ZMYND10

SOURCE GeneReport for Unigene cluster for ZMYND10 Gene:

Hs.526735

Evidence on tissue expression from TISSUES for ZMYND10 Gene

  • Nervous system(4.6)
  • Lung(4.3)
  • Kidney(4.2)

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
Organs:
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

Primer Products

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 33 34
  • 99.77 (n)
cow
(Bos Taurus)
Mammalia ZMYND10 33 34
  • 91.09 (n)
dog
(Canis familiaris)
Mammalia ZMYND10 33 34
  • 88.91 (n)
mouse
(Mus musculus)
Mammalia Zmynd10 33 16 34
  • 85.68 (n)
rat
(Rattus norvegicus)
Mammalia Zmynd10 33
  • 85.61 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ZMYND10 34
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ZMYND10 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZMYND10 34
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ZMYND10 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zmynd10 33
  • 62.88 (n)
zebrafish
(Danio rerio)
Actinopterygii zmynd10 33 34
  • 58.1 (n)
zgc63660 33
fruit fly
(Drosophila melanogaster)
Insecta CG11253 33 34
  • 47.94 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011078 33
  • 47.19 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5292 33
Species where no ortholog for ZMYND10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for ZMYND10 Gene

No data available for Paralogs for ZMYND10 Gene

Variants for ZMYND10 Gene

Sequence variations from dbSNP and Humsavar for ZMYND10 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs114329675 benign, Primary ciliary dyskinesia 50,341,858(-) T/C coding_sequence_variant, missense_variant
rs114377074 benign, Primary ciliary dyskinesia 50,343,622(-) A/G intron_variant
rs138815960 pathogenic, Ciliary dyskinesia, primary, 22, Kartagener syndrome, Primary ciliary dyskinesia, Ciliary dyskinesia, primary, 22 (CILD22) [MIM:615444] 50,345,533(-) A/C 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs141055331 benign, Primary ciliary dyskinesia 50,342,543(-) G/A coding_sequence_variant, missense_variant
rs142613783 benign, Primary ciliary dyskinesia 50,341,826(-) G/A coding_sequence_variant, missense_variant

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: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 22
  • cild22
kartagener syndrome
  • kartagener's syndrome
primary ciliary dyskinesia
  • ciliary motility disorder
ciliary dyskinesia, primary, 1
  • pcd
ovarian serous carcinoma
  • ovarian serous adenocarcinoma
- 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ZMYND10

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 58
  2. 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 58
  3. 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 58
  4. 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 22 58
  5. Hypermethylation of two consecutive tumor suppressor genes, BLU and RASSF1A, located at 3p21.3 in cervical neoplasias. (PMID: 17097722) Lai HC … Chu TY (Gynecologic oncology 2007) 3 22 58

Products for ZMYND10 Gene

Sources for ZMYND10 Gene

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