• Gene id: 51364

Gene Summary

• Gene Symbol: ZMYND10   Gene   UCSC   Ensembl
• Aliases: BLU, CILD22, DNAAF7, FLU
• Gene name: zinc finger MYND-type containing 10
• Alternate names: zinc finger MYND domain-containing protein 10, dynein axonemal assembly factor 7, protein BLu,
• Gene location: 3p21.31 (50345731: 50341109)     Exons: 12     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 607070

SNPs

rs587777044

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000003.12   g.50343331dup
NC_000003.11   g.50380762dup
NG_023270.1   g.2606dup
NG_042828.1   g.7416dup
NM_015896.4   c.486dup
NM_015896.3   c.486dup
NM_015896.2   c.486dup
NM_001308379.2   c.486dup
NM_001308379.1   c.486dup
XM_005265216.3   c.249dup
XM_005265216.1   c.

rs587777043

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000003.12   g.50343753del
NC_000003.11   g.50381184del
NG_023270.1   g.2185del
NG_042828.1   g.6995del
NM_015896.4   c.300del
NM_015896.3   c.300del
NM_015896.2   c.300del
NM_001308379.2   c.300del
NM_001308379.1   c.300del
XM_005265216.3   c.63del
XM_005265216.1   c.6

rs397515460

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.50342047G>A
NC_000003.11   g.50379478G>A
NG_023270.1   g.3890C>T
NG_042828.1   g.8700C>T
NM_015896.4   c.967C>T
NM_015896.3   c.967C>T
NM_015896.2   c.967C>T
NM_001308379.2   c.952C>T
NM_001308379.1   c.952C>T
XM_005265216.3   c.730C>T
XM_005265216.1   c.

rs200913791

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.50342473A>G
NC_000003.11   g.50379904A>G
NG_023270.1   g.3464T>C
NG_042828.1   g.8274T>C
NM_015896.4   c.797T>C
NM_015896.3   c.797T>C
NM_015896.2   c.797T>C
NM_001308379.2   c.782T>C
NM_001308379.1   c.782T>C
XM_005265216.3   c.560T>C
XM_005265216.1   c.

rs138815960

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.50345533A>C
NC_000003.11   g.50382964A>C
NG_023270.1   g.404T>G
NG_042828.1   g.5214T>G
NM_015896.4   c.47T>G
NM_015896.3   c.47T>G
NM_015896.2   c.47T>G
NM_001308379.2   c.47T>G
NM_001308379.1   c.47T>G
XM_005265216.3   c.-82T>G
XM_005265216.1   c.-82T>G

Protein Summary

• Protein general information: O75800  
  • Name: Zinc finger MYND domain containing protein 10 (Protein BLu)
  • Length: 440  
  • Mass: 50344
• Sequence:

  MGDLELLLPGEAEVLVRGLRSFPLREMGSEGWNQQHENLEKLNMQAILDATVSQGEPIQELLVTHGKVPTLVEEL
  IAVEMWKQKVFPVFCRVEDFKPQNTFPIYMVVHHEASIINLLETVFFHKEVCESAEDTVLDLVDYCHRKLTLLVA
  QSGCGGPPEGEGSQDSNPMQELQKQAELMEFEIALKALSVLRYITDCVDSLSLSTLSRMLSTHNLPCLLVELLEH
  SPWSRREGGKLQQFEGSRWHTVAPSEQQKLSKLDGQVWIALYNLLLSPEAQARYCLTSFAKGRLLKLRAFLTDTL
  LDQLPNLAHLQSFLAHLTLTETQPPKKDLVLEQIPEIWERLERENRGKWQAIAKHQLQHVFSPSEQDLRLQARRW
  AETYRLDVLEAVAPERPRCAYCSAEASKRCSRCQNEWYCCRECQVKHWEKHGKTCVLAAQGDRAK

• Structural information:
  • Interpro: IPR017333  IPR002893  
  • Prosite: PS01360 PS50865
  • PDB: 2D8Q 2DAN
  • PDBsum: 2D8Q 2DAN
  • STRING: ENSP00000231749
• Other Databases: GeneCards:  ZMYND10  Malacards:  ZMYND10

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036159	inner dynein arm assembly	IBA	biological process
GO:0036158	outer dynein arm assembly	IBA	biological process
GO:0044458	motile cilium assembly	IBA	biological process
GO:0034451	centriolar satellite	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0036159	inner dynein arm assembly	IMP	biological process
GO:0036159	inner dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036159	inner dynein arm assembly	ISS	biological process
GO:0036158	outer dynein arm assembly	ISS	biological process
GO:0044458	motile cilium assembly	IMP	biological process
GO:0044458	motile cilium assembly	IMP	biological process
GO:0034451	centriolar satellite	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016324	apical plasma membrane	ISS	cellular component
GO:1905505	positive regulation of motile cilium assembly	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006457	protein folding	IEA	biological process
GO:0036158	outer dynein arm assembly	IEA	biological process
GO:0036159	inner dynein arm assembly	IEA	biological process
GO:0003341	cilium movement	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0044183	protein folding chaperone	IEA	molecular function
GO:0044458	motile cilium assembly	IEA	biological process
GO:0060090	molecular adaptor activity	IEA	molecular function
GO:0061512	protein localization to cilium	IEA	biological process
GO:1905505	positive regulation of motile cilium assembly	IEA	biological process
GO:0034451	centriolar satellite	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Primary ciliary dyskinesia	KEGG:H00564
Primary ciliary dyskinesia	KEGG:H00564
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R