TTC21B
entrez
79809
canonical
uniprot
Q7Z4L5
canonical
ensembl
ENSG00000123607
resolver
ensp
ENSP00000243344
resolver
ensp
ENSP00000505499
resolver
ensp
ENSP00000505921
resolver
ensp
ENSP00000506449
resolver
enst
ENST00000680448
resolver
enst
ENST00000681024
resolver
genesymbol
TTC21B
resolver
genesymbol_syn
IFT139
resolver
genesymbol_syn
KIAA1992
resolver
hgnc
HGNC:25660
resolver
uniprot
A0A7P0TA66
resolver
uniprot
A0A7P0TB61
resolver
uniprot
A8KA77
resolver
uniprot
A8MUZ3
resolver
uniprot
Q3LIE4
resolver
uniprot
Q53T84
resolver
uniprot
Q6P4A1
resolver
uniprot
Q6PIF5
resolver
uniprot
Q8NCN3
resolver
uniprot
Q96MA4
resolver
uniprot
Q9HAK8
resolver
uniprot_entry
A0A7P0TA66_HUMAN
resolver
uniprot_entry
A0A7P0TB61_HUMAN
resolver
uniprot_entry
A8KA77_HUMAN
resolver
uniprot_entry
TT21B_HUMAN
resolver
uniprot_sec
A8MUZ3
resolver
uniprot_sec
Q3LIE4
resolver
uniprot_sec
Q53T84
resolver
uniprot_sec
Q6P4A1
resolver
uniprot_sec
Q6PIF5
resolver
uniprot_sec
Q8NCN3
resolver
uniprot_sec
Q96MA4
resolver
uniprot_sec
Q9HAK8
resolver
amino_acid_sequence
MDSQELKTLINYYCQERYFHHVLLVASEGIKRYGSDPVFRFYHAYGTLMEGKTQEALREFEAIKNKQDVSLCSLLALIYAHKMSPNPDREAILESDARVKEQRKGAGEKALYHAGLFLWHIGRHDKAREYIDRMIKISDGSKQGHVLKAWLDITRGKEPYTKKALKYFEEGLQDGNDTFALLGKAQCLEMRQNYSGALETVNQIIVNFPSFLPAFVKKMKLQLALQDWDQTVETAQRLLLQDSQNVEALRMQALYYVCREGDIEKASTKLENLGNTLDAMEPQNAQLFYNITLAFSRTCGRSQLILQKIQTLLERAFSLNPQQSEFATELGYQMILQGRVKEALKWYKTAMTLDETSVSALVGFIQCQLIEGQLQDADQQLEFLNEIQQSIGKSAELIYLHAVLAMKKNKRQEEVINLLNDVLDTHFSQLEGLPLGIQYFEKLNPDFLLEIVMEYLSFCPMQPASPGQPLCPLLRRCISVLETVVRTVPGLLQTVFLIAKVKYLSGDIEAAFNNLQHCLEHNPSYADAHLLLAQVYLSQEKVKLCSQSLELCLSYDFKVRDYPLYHLIKAQSQKKMGEIADAIKTLHMAMSLPGMKRIGASTKSKDRKTEVDTSHRLSIFLELIDVHRLNGEQHEATKVLQDAIHEFSGTSEEVRVTIANADLALAQGDIERALSILQNVTAEQPYFIEAREKMADIYLKHRKDKMLYITCFREIAERMANPRSFLLLGDAYMNILEPEEAIVAYEQALNQNPKDGTLASKMGKALIKTHNYSMAITYYEAALKTGQKNYLCYDLAELLLKLKWYDKAEKVLQHALAHEPVNELSALMEDGRCQVLLAKVYSKMEKLGDAITALQQARELQARVLKRVQMEQPDAVPAQKHLAAEICAEIAKHSVAQRDYEKAIKFYREALVHCETDNKIMLELARLYLAQDDPDSCLRQCALLLQSDQDNEAATMMMADLMFRKQDYEQAVFHLQQLLERKPDNYMTLSRLIDLLRRCGKLEDVPRFFSMAEKRNSRAKLEPGFQYCKGLYLWYTGEPNDALRHFNKARKDRDWGQNALYNMIEICLNPDNETVGGEVFENLDGDLGNSTEKQESVQLAVRTAEKLLKELKPQTVQGHVQLRIMENYCLMATKQKSNVEQALNTFTEIAASEKEHIPALLGMATAYMILKQTPRARNQLKRIAKMNWNAIDAEEFEKSWLLLADIYIQSAKYDMAEDLLKRCLRHNRSCCKAYEYMGYIMEKEQAYTDAALNYEMAWKYSNRTNPAVGYKLAFNYLKAKRYVDSIDICHQVLEAHPTYPKIRKDILDKARASLRP
uniprot
proteins
disease_involvement
DISEASE: Note=Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. TTC21B is causally associated with diverse ciliopathies. It also acts as a modifier gene across the ciliopathy spectrum, interacting in trans with mutations in other ciliopathy-causing genes and contributing to disease manifestation and severity. {ECO:0000269|PubMed:21258341}.; DISEASE: Nephronophthisis 12 (NPHP12) [MIM:613820]: An autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Some patients manifest extra-renal features including retinal, skeletal and central nervous system defects. {ECO:0000269|PubMed:21258341}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Short-rib thoracic dysplasia 4 with or without polydactyly (SRTD4) [MIM:613819]: 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:21258341}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Joubert syndrome 11 (JBTS11) [MIM:613820]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. {ECO:0000269|PubMed:21258341, ECO:0000269|PubMed:22425360}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs). Essential for retrograde trafficking of IFT-1, IFT-B and GPCRs (PubMed:27932497). Negatively modulates the SHH signal transduction (By similarity). {ECO:0000250|UniProtKB:Q0HA38, ECO:0000269|PubMed:27932497}.
uniprot
proteins
mass_dalton
150937
uniprot
proteins
protein_family
TTC21 family
uniprot
proteins
pubmed
12056414
uniprot
proteins
pubmed
12880961
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
20889716
uniprot
proteins
pubmed
21258341
uniprot
proteins
pubmed
22425360
uniprot
proteins
pubmed
25860617
uniprot
proteins
pubmed
27666822
uniprot
proteins
pubmed
27932497
uniprot
proteins
sequence_length
1316
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:Q0HA38}.
uniprot
proteins