DYNC2I2 (dynein 2 intermediate chain 2)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
89891
Gene name Gene Name - the full gene name approved by the HGNC.
Dynein 2 intermediate chain 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DYNC2I2
Synonyms (NCBI Gene) Gene synonyms aliases
CFAP133, DIC5, FAP133, SRTD11, WDR34, bA216B9.3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SRTD11
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.11
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), which may facilitate formation of heterotrimeric or multiprotein com
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(23)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 30649997, 32296183
GO:0005737 Component Cytoplasm IDA 25205765
GO:0005813 Component Centrosome IDA 25205765
GO:0005814 Component Centriole ISS
GO:0005829 Component Cytosol IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
613363 28296 ENSG00000119333
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (17)
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Asphyxiating thoracic dystrophy Saldino-Noonan Syndrome rs137853115, rs137853025, rs1565310938, rs137853028, rs137853029, rs137853030, rs137853031, rs137853032, rs431905499, rs137853033, rs137853034, rs137853035, rs431905500, rs483352907, rs387906980
View all (112 more)
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Show/Hide Unknown Diseases (5)
Unknown
Disease term Disease name Evidence References Source
Ambiguous genitalia Ambiguous Genitalia ClinVar
Pulmonary hypoplasia Congenital hypoplasia of lung ClinVar
Renal hypoplasia Congenital hypoplasia of kidney ClinVar
Jeune Syndrome Jeune syndrome GenCC