Version 5.4
Homo sapiens Gene: TTC21B
Summary
InnateDB Gene IDBG-74123.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TTC21B
Gene Name tetratricopeptide repeat domain 21B
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000123607
Encoded Proteins
IDBP-74125
tetratricopeptide repeat domain 21B
IDBP-245131
tetratricopeptide repeat domain 21B
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4. [provided by RefSeq, Oct 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:165857475-165953843
Strand Reverse strand
Band q24.3
Transcripts
ENST00000243344 ENSP00000243344
ENST00000392695 ENSP00000376460
ENST00000486672
ENST00000489714
ENST00000497425
ENST00000484129
ENST00000464374
ENST00000476227
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007224 smoothened signaling pathway
GO:0008589 regulation of smoothened signaling pathway
GO:0021591 ventricular system development
GO:0021798 forebrain dorsal/ventral pattern formation
GO:0035721 intraciliary retrograde transport
GO:0035735 intraciliary transport involved in cilium morphogenesis
GO:0060271 cilium morphogenesis
GO:0061512 protein localization to cilium
Cellular Component
GO:0000790 nuclear chromatin
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005929 cilium
GO:0030991 intraciliary transport particle A
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000034848
View Gene Order
ENSBTAG00000016512
Not yet available
Pathways
NETPATH
REACTOME
REACT_228134
Signaling by Hedgehog pathway
REACT_111102
Signal Transduction pathway
REACT_267634
Hedgehog 'off' state pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.310672 Hs.617279 Hs.709870
RefSeq NM_024753
HUGO
OMIM
CCDS CCDS33315
HPRD 07752
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca