• Gene id: 79809

Gene Summary

• Gene Symbol: TTC21B   Gene   UCSC   Ensembl
• Aliases: ATD4, FAP60, FLA17, IFT139, IFT139B, JBTS11, NPHP12, Nbla10696, SRTD4, THM1
• Gene name: tetratricopeptide repeat domain 21B
• Alternate names: tetratricopeptide repeat protein 21B, TPR repeat protein 21B, intraflagellar transport 139 homolog, putative protein product of Nbla10696,
• Gene location: 2q24.3 (165953780: 165873361)     Exons: 33     NC_000002.12
• Gene summary(Entrez): This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associa
• OMIM: 612014

Protein Summary

• Protein general information: Q7Z4L5  
  • Name: Tetratricopeptide repeat protein 21B (TPR repeat protein 21B) (Intraflagellar transport 139 homolog)
  • Length: 1316  
  • Mass: 150937
• Sequence:

  MDSQELKTLINYYCQERYFHHVLLVASEGIKRYGSDPVFRFYHAYGTLMEGKTQEALREFEAIKNKQDVSLCSLL
  ALIYAHKMSPNPDREAILESDARVKEQRKGAGEKALYHAGLFLWHIGRHDKAREYIDRMIKISDGSKQGHVLKAW
  LDITRGKEPYTKKALKYFEEGLQDGNDTFALLGKAQCLEMRQNYSGALETVNQIIVNFPSFLPAFVKKMKLQLAL
  QDWDQTVETAQRLLLQDSQNVEALRMQALYYVCREGDIEKASTKLENLGNTLDAMEPQNAQLFYNITLAFSRTCG
  RSQLILQKIQTLLERAFSLNPQQSEFATELGYQMILQGRVKEALKWYKTAMTLDETSVSALVGFIQCQLIEGQLQ
  DADQQLEFLNEIQQSIGKSAELIYLHAVLAMKKNKRQEEVINLLNDVLDTHFSQLEGLPLGIQYFEKLNPDFLLE
  IVMEYLSFCPMQPASPGQPLCPLLRRCISVLETVVRTVPGLLQTVFLIAKVKYLSGDIEAAFNNLQHCLEHNPSY
  ADAHLLLAQVYLSQEKVKLCSQSLELCLSYDFKVRDYPLYHLIKAQSQKKMGEIADAIKTLHMAMSLPGMKRIGA
  STKSKDRKTEVDTSHRLSIFLELIDVHRLNGEQHEATKVLQDAIHEFSGTSEEVRVTIANADLALAQGDIERALS
  ILQNVTAEQPYFIEAREKMADIYLKHRKDKMLYITCFREIAERMANPRSFLLLGDAYMNILEPEEAIVAYEQALN
  QNPKDGTLASKMGKALIKTHNYSMAITYYEAALKTGQKNYLCYDLAELLLKLKWYDKAEKVLQHALAHEPVNELS
  ALMEDGRCQVLLAKVYSKMEKLGDAITALQQARELQARVLKRVQMEQPDAVPAQKHLAAEICAEIAKHSVAQRDY
  EKAIKFYREALVHCETDNKIMLELARLYLAQDDPDSCLRQCALLLQSDQDNEAATMMMADLMFRKQDYEQAVFHL
  QQLLERKPDNYMTLSRLIDLLRRCGKLEDVPRFFSMAEKRNSRAKLEPGFQYCKGLYLWYTGEPNDALRHFNKAR
  KDRDWGQNALYNMIEICLNPDNETVGGEVFENLDGDLGNSTEKQESVQLAVRTAEKLLKELKPQTVQGHVQLRIM
  ENYCLMATKQKSNVEQALNTFTEIAASEKEHIPALLGMATAYMILKQTPRARNQLKRIAKMNWNAIDAEEFEKSW
  LLLADIYIQSAKYDMAEDLLKRCLRHNRSCCKAYEYMGYIMEKEQAYTDAALNYEMAWKYSNRTNPAVGYKLAFN
  YLKAKRYVDSIDICHQVLEAHPTYPKIRKDILDKARASLRP

• Structural information:
  • Interpro: IPR013026  IPR011990  IPR019734  IPR040364  
  • Prosite: PS50005 PS50293
  • STRING: ENSP00000243344
• Other Databases: GeneCards:  TTC21B  Malacards:  TTC21B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030991	intraciliary transport particle A	IBA	cellular component
GO:0061512	protein localization to cilium	IBA	biological process
GO:0035721	intraciliary retrograde transport	IBA	biological process
GO:0030991	intraciliary transport particle A	IDA	cellular component
GO:0030991	intraciliary transport particle A	IDA	cellular component
GO:1905799	regulation of intraciliary retrograde transport	IMP	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IMP	biological process
GO:0061512	protein localization to cilium	IMP	biological process
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0035735	intraciliary transport involved in cilium assembly	TAS	biological process
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0090263	positive regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0035721	intraciliary retrograde transport	IEA	biological process
GO:0030900	forebrain development	IEA	biological process
GO:0021798	forebrain dorsal/ventral pattern formation	IEA	biological process
GO:0021702	cerebellar Purkinje cell differentiation	IEA	biological process
GO:0021591	ventricular system development	IEA	biological process
GO:0008589	regulation of smoothened signaling pathway	IEA	biological process
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0000790	nuclear chromatin	IEA	cellular component
GO:1903999	negative regulation of eating behavior	IEA	biological process
GO:0097499	protein localization to non-motile cilium	IEA	biological process
GO:0060020	Bergmann glial cell differentiation	IEA	biological process
GO:0030991	intraciliary transport particle A	IEA	cellular component
GO:0021549	cerebellum development	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process

Diseases

Associated diseases	References
Joubert syndrome	KEGG:H00530
Nephronophthisis	KEGG:H00537
Short-rib thoracic dysplasia	KEGG:H02157
Asphyxiating thoracic dystrophy	KEGG:H00751
Joubert syndrome	KEGG:H00530
Nephronophthisis	KEGG:H00537
Short-rib thoracic dysplasia	KEGG:H02157
Asphyxiating thoracic dystrophy	KEGG:H00751
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)