DYNC2I1 (dynein 2 intermediate chain 1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 55112
Gene name Dynein 2 intermediate chain 1
Gene symbol DYNC2I1
Synonyms (NCBI Gene)
CFAP163DIC6FAP163SRPS6SRTD8WDR60
Chromosome 7
Chromosome location 7q36.3
Summary 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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
Gene Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
615462 21862 ENSG00000126870
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Intraflagellar transport
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
445
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Asphyxiating thoracic dystrophy 3 Pathogenic; Likely pathogenic rs1456300819, rs1554478948 RCV001291413
RCV001291414
DYNC2I1-related disorder Likely pathogenic rs2535858456 RCV003404487
Short-rib thoracic dysplasia 8 with or without polydactyly Pathogenic; Likely pathogenic rs750540944, rs780061154, rs1844679510, rs752596216, rs752109819, rs767577574, rs2535858137, rs1203407896, rs2536414666, rs1412188940, rs1554460624, rs1456300819, rs766663693, rs1843823774, rs899172501
View all (3 more)		 RCV002623408
RCV003489489
RCV001389845
RCV002238239
RCV002239450
RCV003091318
RCV002824242
RCV002853073
RCV003582362
RCV003742426
RCV000502577
RCV004701585
RCV000700069
RCV001175236
RCV001175237
RCV000074338
RCV000074339
RCV000074340
Show/Hide Unknown Diseases (24)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Conflicting classifications of pathogenicity rs2657385, rs78313003, rs58538724 RCV005921862
RCV005899990
RCV005903223
Adrenocortical carcinoma, hereditary Benign rs78313003 RCV005899994
Cervical cancer Benign; Conflicting classifications of pathogenicity rs78313003, rs58538724 RCV005899995
RCV005903224
Cholangiocarcinoma Benign rs2657385, rs78313003 RCV005921866
RCV005900003