Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	55112
Gene name Gene Name - the full gene name approved by the HGNC.	Dynein 2 intermediate chain 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DYNC2I1
Synonyms (NCBI Gene) Gene synonyms aliases	CFAP163, DIC6, FAP163, SRPS6, SRTD8, WDR60
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q36.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000242	Component	Pericentriolar material	IBA
GO:0000242	Component	Pericentriolar material	IDA	25205765
GO:0000922	Component	Spindle pole	IBA
GO:0000922	Component	Spindle pole	IDA	25830415
GO:0005515	Function	Protein binding	IPI	25036637, 26044572, 27173435, 31451806, 33961781
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	25830415
GO:0005813	Component	Centrosome	IDA	31451806
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005868	Component	Cytoplasmic dynein complex	IBA
GO:0005868	Component	Cytoplasmic dynein complex	IDA	25205765, 25830415, 31451806
GO:0005868	Component	Cytoplasmic dynein complex	IEA
GO:0005929	Component	Cilium	IDA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	TAS
GO:0030030	Process	Cell projection organization	IEA
GO:0031021	Component	Interphase microtubule organizing center	IBA
GO:0031021	Component	Interphase microtubule organizing center	IDA	25830415
GO:0035721	Process	Intraciliary retrograde transport	IDA	29742051, 30649997
GO:0036064	Component	Ciliary basal body	IDA
GO:0042073	Process	Intraciliary transport	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045503	Function	Dynein light chain binding	IBA
GO:0045503	Function	Dynein light chain binding	IEA
GO:0045503	Function	Dynein light chain binding	IPI	25830415
GO:0045504	Function	Dynein heavy chain binding	IEA
GO:0048704	Process	Embryonic skeletal system morphogenesis	IMP	23910462
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IGI	25205765
GO:0060271	Process	Cilium assembly	IMP	23910462, 25205765, 25830415
GO:0097542	Component	Ciliary tip	TAS
GO:0097546	Component	Ciliary base	IBA
GO:0097546	Component	Ciliary base	IDA	25830415
GO:0097546	Component	Ciliary base	IDA	23910462

MIM	HGNC	e!Ensembl
615462	21862	ENSG00000126870

Protein

UniProt ID

Q8WVS4

Protein name

Cytoplasmic dynein 2 intermediate chain 1 (Dynein 2 intermediate chain 1) (WD repeat-containing protein 60)

Protein function

Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 2 complex (dynein-2 complex), a motor protein complex that drives the movement of cargos along microtubules within cilia and flagella in concert with the intrafl

PDB

6RLB , 6SC2 , 8RGG , 8RGH

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Expressed in chondrocytes (at protein level). {ECO:0000269|PubMed:23910462}.

Sequence

MEPGKRRTKDDTWKADDLRKHLWAIQSGGSKEERKHREKKLRKESEMDLPEHKEPRCRDP
DQDARSRDRVAEVHTAKESPRGERDRDRQRERRRDAKDREKEKLKEKHREAEKSHSRGKD
REKEKDRRARKEELRQTVAHHNLLGQETRDRQLLERAERKGRSVSKVRSEEKDEDSERGD
EDRERRYRERKLQYGDSKDNPLKYWLYKEEGERRHRKPREPDRDNKHREKSSTREKREKY
SKEKSNSFSDKGEERHKEKRHKEGFHFDDERHQSNVDRKEKSAKDEPRKRESQNGEHRNR
GASSKRDGTSSQHAENLVRNHGKDKDSRRKHGHEEGSSVWWKLDQRPGGEETVEIEKEET
DLENARADAYTASCEDDFEDYEDDFEVCDGDDDESSNEPESREKLEELPLAQKKEIQEIQ
RAINAENERIGELSLKLFQKRGRTEFEKEPRTDTNSSPSRASVCGIFVDFASASHRQKSR
TQALKQKMRSTKLLRLIDLDFSFTFSLLDLPPVNEYDMYIRNFGKKNTKQAYVQCNEDNV
ERDIQTEEIETREVWTQHPGESTVVSGGSEQRDTSDAVVMPKIDTPRLCSFLRAACQVMA
VLLEEDRLAAEPSWNLRAQDRALYFSDSSSQLNTSLPFLQNRKVSSLHTSRVQRQMVVSV
HDLPEKSFVPLLDSKYVLCVWDIWQPSGPQKVLICESQVTCCCLSPLKAFLLFAGTAHGS
VVVWDLREDSRLHYSVTLSDGFWTFRTATFSTDGILTSVNHRSPLQAVEPISTSVHKKQS
FVLSPFSTQEEMSGLSFHIASLDESGVLNVWVVVELPKADIAGSISDLGLMPGGRVKLVH
SALIQLGDSLSHKGNEFWGTTQTLNVKFLPSDPNHFIIGTDMGLISHGTRQDLRVAPKLF
KPQQHGIRPVKVNVIDFSPFGEPIFLAGCSDGSIRLHQLSSAFPLLQWDSSTDSHAVTGL
QWSPTRPAVFLVQDDTSNIYIWDLLQSDLGPVAKQQVSPNRLVAMAAVGEPEKAGGSFLA
LVLARASGSIDIQHLKRRWAAPEVDECNRLRLLLQEALWPEGKLHK

Sequence length

1066

Interactions

View interactions

	Reactome
			Intraflagellar transport

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Asphyxiating Thoracic Dystrophy	Asphyxiating thoracic dystrophy 3	rs1456300819, rs1554478948	N/A
Short-Rib Thoracic Dysplasia With Or Without Polydactyly	short-rib thoracic dysplasia 8 with or without polydactyly	rs587777066, rs1554460624, rs1456300819, rs766663693, rs587777064, rs587777065	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Jeune Syndrome	Jeune syndrome	N/A	N/A	GenCC
Jeune Thoracic Dystrophy	jeune thoracic dystrophy	N/A	N/A	ClinVar
Short Rib-Polydactyly Syndrome	short rib-polydactyly syndrome, Verma-Naumoff type	N/A	N/A	GenCC

DYNC2I1 (dynein 2 intermediate chain 1)