• Gene id: 55112

Gene Summary

• Gene Symbol: DYNC2I1   Gene   UCSC   Ensembl
• Aliases: CFAP163, DIC6, FAP163, SRPS6, SRTD8, WDR60
• Gene name: dynein 2 intermediate chain 1
• Alternate names: WD repeat-containing protein 60, WD repeat domain 60, testicular secretory protein Li 66,
• Gene location: 7q36.3 (158839244: 158958694)     Exons: 35     NC_000007.14
• 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) and may facilitate the formation of heterotrimeric or multiprotein co
• OMIM: 615462

Protein Summary

• Protein general information: Q8WVS4  
  • Name: WD repeat containing protein 60
  • Length: 1066  
  • Mass: 122571
  • Tissue specificity: Expressed in chondrocytes (at protein level). {ECO
• Sequence:

  MEPGKRRTKDDTWKADDLRKHLWAIQSGGSKEERKHREKKLRKESEMDLPEHKEPRCRDPDQDARSRDRVAEVHT
  AKESPRGERDRDRQRERRRDAKDREKEKLKEKHREAEKSHSRGKDREKEKDRRARKEELRQTVAHHNLLGQETRD
  RQLLERAERKGRSVSKVRSEEKDEDSERGDEDRERRYRERKLQYGDSKDNPLKYWLYKEEGERRHRKPREPDRDN
  KHREKSSTREKREKYSKEKSNSFSDKGEERHKEKRHKEGFHFDDERHQSNVDRKEKSAKDEPRKRESQNGEHRNR
  GASSKRDGTSSQHAENLVRNHGKDKDSRRKHGHEEGSSVWWKLDQRPGGEETVEIEKEETDLENARADAYTASCE
  DDFEDYEDDFEVCDGDDDESSNEPESREKLEELPLAQKKEIQEIQRAINAENERIGELSLKLFQKRGRTEFEKEP
  RTDTNSSPSRASVCGIFVDFASASHRQKSRTQALKQKMRSTKLLRLIDLDFSFTFSLLDLPPVNEYDMYIRNFGK
  KNTKQAYVQCNEDNVERDIQTEEIETREVWTQHPGESTVVSGGSEQRDTSDAVVMPKIDTPRLCSFLRAACQVMA
  VLLEEDRLAAEPSWNLRAQDRALYFSDSSSQLNTSLPFLQNRKVSSLHTSRVQRQMVVSVHDLPEKSFVPLLDSK
  YVLCVWDIWQPSGPQKVLICESQVTCCCLSPLKAFLLFAGTAHGSVVVWDLREDSRLHYSVTLSDGFWTFRTATF
  STDGILTSVNHRSPLQAVEPISTSVHKKQSFVLSPFSTQEEMSGLSFHIASLDESGVLNVWVVVELPKADIAGSI
  SDLGLMPGGRVKLVHSALIQLGDSLSHKGNEFWGTTQTLNVKFLPSDPNHFIIGTDMGLISHGTRQDLRVAPKLF
  KPQQHGIRPVKVNVIDFSPFGEPIFLAGCSDGSIRLHQLSSAFPLLQWDSSTDSHAVTGLQWSPTRPAVFLVQDD
  TSNIYIWDLLQSDLGPVAKQQVSPNRLVAMAAVGEPEKAGGSFLALVLARASGSIDIQHLKRRWAAPEVDECNRL
  RLLLQEALWPEGKLHK

• Structural information:
  • Interpro: IPR015943  IPR001680  IPR036322  IPR042505  
  • PDB: 6RLB 6SC2
  • PDBsum: 6RLB 6SC2
  • STRING: ENSP00000384290
• Other Databases: GeneCards:  DYNC2I1  Malacards:  DYNC2I1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045503	dynein light chain binding	IBA	molecular function
GO:0007018	microtubule-based movement	IBA	biological process
GO:0005868	cytoplasmic dynein complex	IBA	cellular component
GO:2000582	positive regulation of ATP-dependent microtubule motor activity, plus-end-directed	IBA	biological process
GO:0045504	dynein heavy chain binding	IBA	molecular function
GO:0010970	transport along microtubule	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030030	cell projection organization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	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: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:0005929	cilium	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0000922	spindle pole	IDA	colocalizes with
GO:0000242	pericentriolar material	IDA	cellular component
GO:0031021	interphase microtubule organizing center	IDA	colocalizes with
GO:0005813	centrosome	IDA	colocalizes with
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:0097546	ciliary base	IDA	colocalizes with
GO:0097546	ciliary base	IDA	cellular component
GO:0060271	cilium assembly	IMP	biological process
GO:0060271	cilium assembly	IMP	biological process
GO:0060271	cilium assembly	IGI	biological process
GO:0060271	cilium assembly	IMP	biological process
GO:0048704	embryonic skeletal system morphogenesis	IMP	biological process
GO:0005615	extracellular space	HDA	cellular component

Diseases

Associated diseases	References
Short-rib thoracic dysplasia	KEGG:H02157
Short rib-polydactyly syndrome	KEGG:H00511
Short-rib thoracic dysplasia	KEGG:H02157
Short rib-polydactyly syndrome	KEGG:H00511
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray