DYNC2I2 (dynein 2 intermediate chain 2)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 89891
Gene name Dynein 2 intermediate chain 2
Gene symbol DYNC2I2
Synonyms (NCBI Gene)
CFAP133DIC5FAP133SRTD11WDR34bA216B9.3
Chromosome 9
Chromosome location 9q34.11
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), which may facilitate formation of heterotrimeric or multiprotein com
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (36)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 27173435, 30649997, 31451806, 32296183, 33961781
GO:0005654 Component Nucleoplasm IDA
GO:0005730 Component Nucleolus IDA
GO:0005737 Component Cytoplasm IDA 25205765
GO:0005737 Component Cytoplasm IEA
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
613363 28296 ENSG00000119333
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.
Q96EX3
Protein name Cytoplasmic dynein 2 intermediate chain 2 (Dynein 2 intermediate chain 2) (WD repeat-containing protein 34)
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

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 384 → 421 WD domain, G-beta repeat Repeat
PF00400 WD40 472 → 511 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in several cell lines (at protein level). {ECO:0000269|PubMed:19521662}.
Sequence 
MATRAQPGPLSQAGSAGVAALATVGVASGPGPGRPGPLQDETLGVASVPSQWRAVQGIRW
ETKSCQTASIATASASAQARNHVDAQVQTEAPVPVSVQPPSQYDIPRLAAFLRRVEAMVI
RELNKNWQSHAFDGFEVNWTEQQQMVSCLYTLGYPPAQAQGLHVTSISWNSTGSVVACAY
GRLDHGDWSTLKSFVCAWNLDRRDLRPQQPSAVVEVPSAVLCLAFHPTQPSHVAGGLYSG
EVLVWDLSRLEDPLLWRTGLTDDTHTDPVSQVVWLPEPGHSHRFQVLSVATDGKVLLWQG
IGVGQLQLTEGFALVMQQLPRSTKLKKHPRGETEVGATAVAFSSFDPRLFILGTEGGFPL
KCSLAAGEAALTRMPSSVPLRAPAQFTFSPHGGPIYSVSCSPFHRNLFLSAGTDGHVHLY
SMLQAPPLTSLQLSLKYLFAVRWSPVRPLVFAAASGKGDVQLFDLQKSSQKPTVLIKQTQ
DESPVYCLEFNSQQTQLLAAGDAQGTVKVWQLSTEFTEQGPREAEDLDCLAAEVAA
Sequence length 536
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.
525
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (6)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Asphyxiating thoracic dystrophy 3 Likely pathogenic; Pathogenic rs1554770620, rs1554771066 RCV001291410
RCV001291409
DYNC2I2-related disorder Likely pathogenic rs587777092 RCV003398687
Hepatocellular carcinoma Likely pathogenic; Pathogenic rs371069043 RCV005930630
Jeune thoracic dystrophy Likely pathogenic; Pathogenic rs1554770453, rs1554771175, rs555811074 RCV000516036
RCV000515969
RCV000515869
Show/Hide Unknown Diseases (20)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs12380424 RCV005897066
Cervical cancer Benign; Likely benign rs12380424, rs200052239, rs16930544 RCV005897069
RCV005907231
RCV005907219
Cholangiocarcinoma Benign rs12380424 RCV005897078
Clear cell carcinoma of kidney Uncertain significance; Benign rs765921383, rs12380424 RCV005929983
RCV005897070