• Gene id: 89891

Gene Summary

• Gene Symbol: DYNC2I2   Gene   UCSC   Ensembl
• Aliases: CFAP133, DIC5, FAP133, SRTD11, WDR34, bA216B9.3
• Gene name: dynein 2 intermediate chain 2
• Alternate names: WD repeat-containing protein 34, WD repeat domain 34,
• Gene location: 9q34.11 (128656849: 128633652)     Exons: 9     NC_000009.12
• Gene summary(Entrez): This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein com
• OMIM: 613363

Protein Summary

• Protein general information: Q96EX3  
  • Name: WD repeat containing protein 34
  • Length: 536  
  • Mass: 57801
  • Tissue specificity: Expressed in several cell lines (at protein level). {ECO
• Sequence:

  MATRAQPGPLSQAGSAGVAALATVGVASGPGPGRPGPLQDETLGVASVPSQWRAVQGIRWETKSCQTASIATASA
  SAQARNHVDAQVQTEAPVPVSVQPPSQYDIPRLAAFLRRVEAMVIRELNKNWQSHAFDGFEVNWTEQQQMVSCLY
  TLGYPPAQAQGLHVTSISWNSTGSVVACAYGRLDHGDWSTLKSFVCAWNLDRRDLRPQQPSAVVEVPSAVLCLAF
  HPTQPSHVAGGLYSGEVLVWDLSRLEDPLLWRTGLTDDTHTDPVSQVVWLPEPGHSHRFQVLSVATDGKVLLWQG
  IGVGQLQLTEGFALVMQQLPRSTKLKKHPRGETEVGATAVAFSSFDPRLFILGTEGGFPLKCSLAAGEAALTRMP
  SSVPLRAPAQFTFSPHGGPIYSVSCSPFHRNLFLSAGTDGHVHLYSMLQAPPLTSLQLSLKYLFAVRWSPVRPLV
  FAAASGKGDVQLFDLQKSSQKPTVLIKQTQDESPVYCLEFNSQQTQLLAAGDAQGTVKVWQLSTEFTEQGPREAE
  DLDCLAAEVAA

• Structural information:
  • Interpro: IPR015943  IPR001680  IPR017986  IPR036322  
  • Prosite: PS50294
  • PDB: 6RLB 6SC2
  • PDBsum: 6RLB 6SC2
  • STRING: ENSP00000361800
• Other Databases: GeneCards:  DYNC2I2  Malacards:  DYNC2I2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045504	dynein heavy chain binding	IBA	molecular function
GO:0097014	ciliary plasm	IBA	cellular component
GO:0005868	cytoplasmic dynein complex	IBA	cellular component
GO:0007018	microtubule-based movement	IBA	biological process
GO:0042073	intraciliary transport	IBA	biological process
GO:0045503	dynein light chain binding	IBA	molecular function
GO:0036064	ciliary basal body	ISS	cellular component
GO:0005930	axoneme	ISS	cellular component
GO:0005814	centriole	ISS	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0035735	intraciliary transport involved in cilium assembly	TAS	biological process
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005868	cytoplasmic dynein complex	IDA	cellular component
GO:0005868	cytoplasmic dynein complex	IDA	cellular component
GO:0045503	dynein light chain binding	IPI	molecular function
GO:0060271	cilium assembly	IGI	biological process

Diseases

Associated diseases	References
Short-rib thoracic dysplasia	KEGG:H02157
Short-rib thoracic dysplasia	KEGG:H02157
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray