DYNC2I2
entrez
89891
canonical
uniprot
Q96EX3
canonical
ensembl
ENSG00000119333
resolver
ensp
ENSP00000361800
resolver
ensp
ENSP00000595069
resolver
enst
ENST00000372715
resolver
genesymbol
DYNC2I2
resolver
genesymbol_syn
WDR34
resolver
hgnc
HGNC:28296
resolver
uniprot
Q5VXV4
resolver
uniprot
Q9BV46
resolver
uniprot_entry
DC2I2_HUMAN
resolver
uniprot_sec
Q5VXV4
resolver
uniprot_sec
Q9BV46
resolver
amino_acid_sequence
MATRAQPGPLSQAGSAGVAALATVGVASGPGPGRPGPLQDETLGVASVPSQWRAVQGIRWETKSCQTASIATASASAQARNHVDAQVQTEAPVPVSVQPPSQYDIPRLAAFLRRVEAMVIRELNKNWQSHAFDGFEVNWTEQQQMVSCLYTLGYPPAQAQGLHVTSISWNSTGSVVACAYGRLDHGDWSTLKSFVCAWNLDRRDLRPQQPSAVVEVPSAVLCLAFHPTQPSHVAGGLYSGEVLVWDLSRLEDPLLWRTGLTDDTHTDPVSQVVWLPEPGHSHRFQVLSVATDGKVLLWQGIGVGQLQLTEGFALVMQQLPRSTKLKKHPRGETEVGATAVAFSSFDPRLFILGTEGGFPLKCSLAAGEAALTRMPSSVPLRAPAQFTFSPHGGPIYSVSCSPFHRNLFLSAGTDGHVHLYSMLQAPPLTSLQLSLKYLFAVRWSPVRPLVFAAASGKGDVQLFDLQKSSQKPTVLIKQTQDESPVYCLEFNSQQTQLLAAGDAQGTVKVWQLSTEFTEQGPREAEDLDCLAAEVAA
uniprot
proteins
disease_involvement
DISEASE: Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269|PubMed:24183449, ECO:0000269|PubMed:24183451, ECO:0000269|PubMed:29241935}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 intraflagellar transport (IFT) system (PubMed:25205765, PubMed:29742051). DYNC2I2 plays a major role in retrograde ciliary protein trafficking and in ciliogenesis (PubMed:29742051, PubMed:30320547, PubMed:30649997). Required also to maintain a functional transition zone (PubMed:30320547). {ECO:0000269|PubMed:25205765, ECO:0000269|PubMed:29742051, ECO:0000269|PubMed:30320547, ECO:0000269|PubMed:30649997}.; FUNCTION: Acts as a negative regulator of the Toll-like and IL-1R receptor signaling pathways. Inhibits the MAP3K7-induced NF-kappa-B activation pathway. Inhibits MAP3K7 phosphorylation at 'Thr-184' and 'Thr-187' upon Il-1 beta stimulation. {ECO:0000269|PubMed:19521662, ECO:0000269|PubMed:24183449}.
uniprot
proteins
mass_dalton
57801
uniprot
proteins
protein_family
Dynein light intermediate chain family
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19521662
uniprot
proteins
pubmed
24183449
uniprot
proteins
pubmed
24183451
uniprot
proteins
pubmed
25205765
uniprot
proteins
pubmed
29241935
uniprot
proteins
pubmed
29742051
uniprot
proteins
pubmed
30320547
uniprot
proteins
pubmed
30649997
uniprot
proteins
pubmed
31451806
uniprot
proteins
sequence_length
536
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19521662, ECO:0000269|PubMed:25205765}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:19521662, ECO:0000269|PubMed:25205765}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:19521662}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:25205765}. Cell projection, cilium {ECO:0000269|PubMed:25205765}. Cell projection, filopodium {ECO:0000250|UniProtKB:Q5U4F6}. Note=Concentrates around the centrioles and basal bodies also showing axonemal staining. {ECO:0000250|UniProtKB:Q5U4F6}.
uniprot
proteins