DYNLT2B
entrez
255758
canonical
uniprot
Q8WW35
canonical
ensembl
ENSG00000213123
resolver
ensp
ENSP00000324323
resolver
ensp
ENSP00000728948
resolver
enst
ENST00000325318
resolver
genesymbol
DYNLT2B
resolver
genesymbol_syn
TCTEX1D2
resolver
hgnc
HGNC:28482
resolver
uniprot
A6NCN5
resolver
uniprot_entry
DYT2B_HUMAN
resolver
uniprot_sec
A6NCN5
resolver
amino_acid_sequence
MATSIGVSFSVGDGVPEAEKNAGEPENTYILRPVFQQRFRPSVVKDCIHAVLKEELANAEYSPEEMPQLTKHLSENIKDKLKEMGFDRYKMVVQVVIGEQRGEGVFMASRCFWDADTDNYTHDVFMNDSLFCVVAAFGCFYY
uniprot
proteins
disease_involvement
DISEASE: Short-rib thoracic dysplasia 17 with or without polydactyly (SRTD17) [MIM:617405]: 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:26044572}. 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. Required for proper retrograde ciliary transport. {ECO:0000269|PubMed:26044572, ECO:0000269|PubMed:29742051}.
uniprot
proteins
mass_dalton
16122
uniprot
proteins
protein_family
Dynein light chain Tctex-type family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
25205765
uniprot
proteins
pubmed
26044572
uniprot
proteins
pubmed
27021811
uniprot
proteins
pubmed
29742051
uniprot
proteins
sequence_length
142
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Dynein axonemal particle {ECO:0000305}.
uniprot
proteins