DCDC2
entrez
51473
canonical
uniprot
Q9UHG0
canonical
ensembl
ENSG00000146038
resolver
ensp
ENSP00000367715
resolver
ensp
ENSP00000792686
resolver
genesymbol
DCDC2
resolver
genesymbol_syn
KIAA1154
resolver
genesymbol_syn
RU2
resolver
hgnc
HGNC:18141
resolver
uniprot
Q5VTR8
resolver
uniprot
Q5VTR9
resolver
uniprot
Q86W35
resolver
uniprot
Q9UFD1
resolver
uniprot
Q9UHG1
resolver
uniprot
Q9ULR6
resolver
uniprot_entry
DCDC2_HUMAN
resolver
uniprot_sec
Q5VTR8
resolver
uniprot_sec
Q5VTR9
resolver
uniprot_sec
Q86W35
resolver
uniprot_sec
Q9UFD1
resolver
uniprot_sec
Q9UHG1
resolver
uniprot_sec
Q9ULR6
resolver
amino_acid_sequence
MSGSSARSSHLSQPVVKSVLVYRNGDPFYAGRRVVIHEKKVSSFEVFLKEVTGGVQAPFGAVRNIYTPRTGHRIRKLDQIQSGGNYVAGGQEAFKKLNYLDIGEIKKRPMEVVNTEVKPVIHSRINVSARFRKPLQEPCTIFLIANGDLINPASRLLIPRKTLNQWDHVLQMVTEKITLRSGAVHRLYTLEGKLVESGAELENGQFYVAVGRDKFKKLPYSELLFDKSTMRRPFGQKASSLPPIVGSRKSKGSGNDRHSKSTVGSSDNSSPQPLKRKGKKEDVNSEKLTKLKQNVKLKNSQETIPNSDEGIFKAGAERSETRGAAEVQEDEDTQVEVPVDQRPAEIVDEEEDGEKANKDAEQKEDFSGMNGDLEEEGGREATDAPEQVEEILDHSEQQARPARVNGGTDEENGEELQQVNNELQLVLDKERKSQGAGSGQDEADVDPQRPPRPEVKITSPEENENNQQNKDYAAVA
uniprot
proteins
disease_involvement
DISEASE: Dyslexia 2 (DYX2) [MIM:600202]: A relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability. {ECO:0000269|PubMed:16278297}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Nephronophthisis 19 (NPHP19) [MIM:616217]: A form of nephronophthisis, an autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease. NPHP19 patients also manifest hepatosplenomegaly, hepatic fibrosis, destruction of the bile ducts, focal bile ductal proliferation, ductal plate malformation, and cholestasis. {ECO:0000269|PubMed:25557784}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Deafness, autosomal recessive, 66 (DFNB66) [MIM:610212]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:25601850}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Sclerosing cholangitis, neonatal (NSC) [MIM:617394]: An autosomal recessive form of liver disease with onset in infancy. Affected infants have jaundice, cholestasis, acholic stools, and progressive liver dysfunction resulting in fibrosis and cirrhosis. Cholangiography shows patent biliary ducts, but there are bile duct irregularities. {ECO:0000269|PubMed:27319779, ECO:0000269|PubMed:27469900}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Protein that plays a role in the inhibition of canonical Wnt signaling pathway (PubMed:25557784). May be involved in neuronal migration during development of the cerebral neocortex (By similarity). Involved in the control of ciliogenesis and ciliary length (PubMed:25601850, PubMed:27319779). {ECO:0000250|UniProtKB:D3ZR10, ECO:0000269|PubMed:25557784, ECO:0000269|PubMed:25601850, ECO:0000269|PubMed:27319779}.
uniprot
proteins
mass_dalton
52834
uniprot
proteins
pubmed
10574461
uniprot
proteins
pubmed
10601354
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16278297
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
25557784
uniprot
proteins
pubmed
25601850
uniprot
proteins
pubmed
27319779
uniprot
proteins
pubmed
27469900
uniprot
proteins
sequence_length
476
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|PubMed:25601850, ECO:0000269|PubMed:27319779}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:25557784, ECO:0000269|PubMed:27319779}. Cell projection, kinocilium {ECO:0000250|UniProtKB:D3ZR10}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:D3ZR10}. Note=Localizes to the ciliary axoneme and to mitotic spindle fibers in a cell-cycle-dependent manner. {ECO:0000269|PubMed:25557784}.
uniprot
proteins